KEGG   Homo sapiens (human): 1277
Entry
1277              CDS       T01001                                 

Gene name
COL1A1, CAFYD, EDSARTH1, EDSC, OI1, OI2, OI3, OI4
Definition
(RefSeq) collagen type I alpha 1 chain
  KO
K06236  collagen type I alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04611  Platelet activation
hsa04926  Relaxin signaling pathway
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa04974  Protein digestion and absorption
hsa05146  Amoebiasis
hsa05165  Human papillomavirus infection
hsa05205  Proteoglycans in cancer
hsa05415  Diabetic cardiomyopathy
Disease
H00506  Osteogenesis imperfecta
H00613  Infantile cortical hyperostosis
H01593  Osteoporosis
H02243  Ehlers-Danlos syndrome arthrochalasia type
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04151 PI3K-Akt signaling pathway
    1277 (COL1A1)
  09133 Signaling molecules and interaction
   04512 ECM-receptor interaction
    1277 (COL1A1)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04510 Focal adhesion
    1277 (COL1A1)
 09150 Organismal Systems
  09151 Immune system
   04611 Platelet activation
    1277 (COL1A1)
  09152 Endocrine system
   04926 Relaxin signaling pathway
    1277 (COL1A1)
  09154 Digestive system
   04974 Protein digestion and absorption
    1277 (COL1A1)
 09160 Human Diseases
  09161 Cancer: overview
   05205 Proteoglycans in cancer
    1277 (COL1A1)
  09172 Infectious disease: viral
   05165 Human papillomavirus infection
    1277 (COL1A1)
  09174 Infectious disease: parasitic
   05146 Amoebiasis
    1277 (COL1A1)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    1277 (COL1A1)
  09167 Endocrine and metabolic disease
   04933 AGE-RAGE signaling pathway in diabetic complications
    1277 (COL1A1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    1277 (COL1A1)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Heparin
  Extracellular matrix molecules
   1277 (COL1A1)
SSDB
Motif
Pfam: Collagen COLFI VWC
Other DBs
NCBI-GeneID: 1277
NCBI-ProteinID: NP_000079
OMIM: 120150
HGNC: 2197
Ensembl: ENSG00000108821
Vega: OTTHUMG00000148674
Pharos: P02452(Tbio)
UniProt: P02452
Structure
PDB: 
5K31

Position
17q21.33
AA seq 1464 aa
MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRI
CVCDNGKVLCDDVICDETKNCPGAEVPEGECCPVCPDGSESPTDQETTGVEGPKGDTGPR
GPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFAPQLSYGYDEKSTGGISVPGP
MGPSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPPGPPGKNGDDGEAGKPGR
PGERGPPGPQGARGLPGTAGLPGMKGHRGFSGLDGAKGDAGPAGPKGEPGSPGENGAPGQ
MGPRGLPGERGRPGAPGPAGARGNDGATGAAGPPGPTGPAGPPGFPGAVGAKGEAGPQGP
RGSEGPQGVRGEPGPPGPAGAAGPAGNPGADGQPGAKGANGAPGIAGAPGFPGARGPSGP
QGPGGPPGPKGNSGEPGAPGSKGDTGAKGEPGPVGVQGPPGPAGEEGKRGARGEPGPTGL
PGPPGERGGPGSRGFPGADGVAGPKGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGL
TGSPGSPGPDGKTGPPGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGEPGKAGERGV
PGPPGAVGPAGKDGEAGAQGPPGPAGPAGERGEQGPAGSPGFQGLPGPAGPPGEAGKPGE
QGVPGDLGAPGPSGARGERGFPGERGVQGPPGPAGPRGANGAPGNDGAKGDAGAPGAPGS
QGAPGLQGMPGERGAAGLPGPKGDRGDAGPKGADGSPGKDGVRGLTGPIGPPGPAGAPGD
KGESGPSGPAGPTGARGAPGDRGEPGPPGPAGFAGPPGADGQPGAKGEPGDAGAKGDAGP
PGPAGPAGPPGPIGNVGAPGAKGARGSAGPPGATGFPGAAGRVGPPGPSGNAGPPGPPGP
AGKEGGKGPRGETGPAGRPGEVGPPGPPGPAGEKGSPGADGPAGAPGTPGPQGIAGQRGV
VGLPGQRGERGFPGLPGPSGEPGKQGPSGASGERGPPGPMGPPGLAGPPGESGREGAPGA
EGSPGRDGSPGAKGDRGETGPAGPPGAPGAPGAPGPVGPAGKSGDRGETGPAGPAGPVGP
VGARGPAGPQGPRGDKGETGEQGDRGIKGHRGFSGLQGPPGPPGSPGEQGPSGASGPAGP
RGPPGSAGAPGKDGLNGLPGPIGPPGPRGRTGDAGPVGPPGPPGPPGPPGPPSAGFDFSF
LPQPPQEKAHDGGRYYRADDANVVRDRDLEVDTTLKSLSQQIENIRSPEGSRKNPARTCR
DLKMCHSDWKSGEYWIDPNQGCNLDAIKVFCNMETGETCVYPTQPSVAQKNWYISKNPKD
KRHVWFGESMTDGFQFEYGGQGSDPADVAIQLTFLRLMSTEASQNITYHCKNSVAYMDQQ
TGNLKKALLLQGSNEIEIRAEGNSRFTYSVTVDGCTSHTGAWGKTVIEYKTTKTSRLPII
DVAPLDVGAPDQEFGFDVGPVCFL
NT seq 4395 nt   +upstreamnt  +downstreamnt
atgttcagctttgtggacctccggctcctgctcctcttagcggccaccgccctcctgacg
cacggccaagaggaaggccaagtcgagggccaagacgaagacatcccaccaatcacctgc
gtacagaacggcctcaggtaccatgaccgagacgtgtggaaacccgagccctgccggatc
tgcgtctgcgacaacggcaaggtgttgtgcgatgacgtgatctgtgacgagaccaagaac
tgccccggcgccgaagtccccgagggcgagtgctgtcccgtctgccccgacggctcagag
tcacccaccgaccaagaaaccaccggcgtcgagggacccaagggagacactggcccccga
ggcccaaggggacccgcaggcccccctggccgagatggcatccctggacagcctggactt
cccggaccccccggaccccccggacctcccggaccccctggcctcggaggaaactttgct
ccccagctgtcttatggctatgatgagaaatcaaccggaggaatttccgtgcctggcccc
atgggtccctctggtcctcgtggtctccctggcccccctggtgcacctggtccccaaggc
ttccaaggtccccctggtgagcctggcgagcctggagcttcaggtcccatgggtccccga
ggtcccccaggtccccctggaaagaatggagatgatggggaagctggaaaacctggtcgt
cctggtgagcgtgggcctcctgggcctcagggtgctcgaggattgcccggaacagctggc
ctccctggaatgaagggacacagaggtttcagtggtttggatggtgccaagggagatgct
ggtcctgctggtcctaagggtgagcctggcagccctggtgaaaatggagctcctggtcag
atgggcccccgtggcctgcctggtgagagaggtcgccctggagcccctggccctgctggt
gctcgtggaaatgatggtgctactggtgctgccgggccccctggtcccaccggccccgct
ggtcctcctggcttccctggtgctgttggtgctaagggtgaagctggtccccaagggccc
cgaggctctgaaggtccccagggtgtgcgtggtgagcctggcccccctggccctgctggt
gctgctggccctgctggaaaccctggtgctgatggacagcctggtgctaaaggtgccaat
ggtgctcctggtattgctggtgctcctggcttccctggtgcccgaggcccctctggaccc
cagggccccggcggccctcctggtcccaagggtaacagcggtgaacctggtgctcctggc
agcaaaggagacactggtgctaagggagagcctggccctgttggtgttcaaggaccccct
ggccctgctggagaggaaggaaagcgaggagctcgaggtgaacccggacccactggcctg
cccggaccccctggcgagcgtggtggacctggtagccgtggtttccctggcgcagatggt
gttgctggtcccaagggtcccgctggtgaacgtggttctcctggccctgctggccccaaa
ggatctcctggtgaagctggtcgtcccggtgaagctggtctgcctggtgccaagggtctg
actggaagccctggcagccctggtcctgatggcaaaactggcccccctggtcccgccggt
caagatggtcgccccggacccccaggcccacctggtgcccgtggtcaggctggtgtgatg
ggattccctggacctaaaggtgctgctggagagcccggcaaggctggagagcgaggtgtt
cccggaccccctggcgctgtcggtcctgctggcaaagatggagaggctggagctcaggga
ccccctggccctgctggtcccgctggcgagagaggtgaacaaggccctgctggctccccc
ggattccagggtctccctggtcctgctggtcctccaggtgaagcaggcaaacctggtgaa
cagggtgttcctggagaccttggcgcccctggcccctctggagcaagaggcgagagaggt
ttccctggcgagcgtggtgtgcaaggtccccctggtcctgctggtccccgaggggccaac
ggtgctcccggcaacgatggtgctaagggtgatgctggtgcccctggagctcccggtagc
cagggcgcccctggccttcagggaatgcctggtgaacgtggtgcagctggtcttccaggg
cctaagggtgacagaggtgatgctggtcccaaaggtgctgatggctctcctggcaaagat
ggcgtccgtggtctgactggccccattggtcctcctggccctgctggtgcccctggtgac
aagggtgaaagtggtcccagcggccctgctggtcccactggagctcgtggtgcccccgga
gaccgtggtgagcctggtccccccggccctgctggctttgctggcccccctggtgctgac
ggccaacctggtgctaaaggcgaacctggtgatgctggtgctaaaggcgatgctggtccc
cctggccctgccggacccgctggaccccctggccccattggtaatgttggtgctcctgga
gccaaaggtgctcgcggcagcgctggtccccctggtgctactggtttccctggtgctgct
ggccgagtcggtcctcctggcccctctggaaatgctggaccccctggccctcctggtcct
gctggcaaagaaggcggcaaaggtccccgtggtgagactggccctgctggacgtcctggt
gaagttggtccccctggtccccctggccctgctggcgagaaaggatcccctggtgctgat
ggtcctgctggtgctcctggtactcccgggcctcaaggtattgctggacagcgtggtgtg
gtcggcctgcctggtcagagaggagagagaggcttccctggtcttcctggcccctctggt
gaacctggcaaacaaggtccctctggagcaagtggtgaacgtggtccccctggtcccatg
ggcccccctggattggctggaccccctggtgaatctggacgtgagggggctcctggtgcc
gaaggttcccctggacgagacggttctcctggcgccaagggtgaccgtggtgagaccggc
cccgctggaccccctggtgctcctggtgctcctggtgcccctggccccgttggccctgct
ggcaagagtggtgatcgtggtgagactggtcctgctggtcccgccggtcctgtcggccct
gttggcgcccgtggccccgccggaccccaaggcccccgtggtgacaagggtgagacaggc
gaacagggcgacagaggcataaagggtcaccgtggcttctctggcctccagggtccccct
ggccctcctggctctcctggtgaacaaggtccctctggagcctctggtcctgctggtccc
cgaggtccccctggctctgctggtgctcctggcaaagatggactcaacggtctccctggc
cccattgggccccctggtcctcgcggtcgcactggtgatgctggtcctgttggtcccccc
ggccctcctggacctcctggtccccctggtcctcccagcgctggtttcgacttcagcttc
ctgccccagccacctcaagagaaggctcacgatggtggccgctactaccgggctgatgat
gccaatgtggttcgtgaccgtgacctcgaggtggacaccaccctcaagagcctgagccag
cagatcgagaacatccggagcccagagggcagccgcaagaaccccgcccgcacctgccgt
gacctcaagatgtgccactctgactggaagagtggagagtactggattgaccccaaccaa
ggctgcaacctggatgccatcaaagtcttctgcaacatggagactggtgagacctgcgtg
taccccactcagcccagtgtggcccagaagaactggtacatcagcaagaaccccaaggac
aagaggcatgtctggttcggcgagagcatgaccgatggattccagttcgagtatggcggc
cagggctccgaccctgccgatgtggccatccagctgaccttcctgcgcctgatgtccacc
gaggcctcccagaacatcacctaccactgcaagaacagcgtggcctacatggaccagcag
actggcaacctcaagaaggccctgctcctccagggctccaacgagatcgagatccgcgcc
gagggcaacagccgcttcacctacagcgtcactgtcgatggctgcacgagtcacaccgga
gcctggggcaagacagtgattgaatacaaaaccaccaagacctcccgcctgcccatcatc
gatgtggcccccttggacgttggtgccccagaccaggaattcggcttcgacgttggccct
gtctgcttcctgtaa

KEGG   Homo sapiens (human): 1278
Entry
1278              CDS       T01001                                 

Gene name
COL1A2, EDSARTH2, EDSCV, OI4
Definition
(RefSeq) collagen type I alpha 2 chain
  KO
K06236  collagen type I alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04611  Platelet activation
hsa04926  Relaxin signaling pathway
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa04974  Protein digestion and absorption
hsa05146  Amoebiasis
hsa05165  Human papillomavirus infection
hsa05205  Proteoglycans in cancer
hsa05415  Diabetic cardiomyopathy
Disease
H00506  Osteogenesis imperfecta
H01593  Osteoporosis
H02241  Ehlers-Danlos syndrome cardiac valvular type
H02243  Ehlers-Danlos syndrome arthrochalasia type
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04151 PI3K-Akt signaling pathway
    1278 (COL1A2)
  09133 Signaling molecules and interaction
   04512 ECM-receptor interaction
    1278 (COL1A2)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04510 Focal adhesion
    1278 (COL1A2)
 09150 Organismal Systems
  09151 Immune system
   04611 Platelet activation
    1278 (COL1A2)
  09152 Endocrine system
   04926 Relaxin signaling pathway
    1278 (COL1A2)
  09154 Digestive system
   04974 Protein digestion and absorption
    1278 (COL1A2)
 09160 Human Diseases
  09161 Cancer: overview
   05205 Proteoglycans in cancer
    1278 (COL1A2)
  09172 Infectious disease: viral
   05165 Human papillomavirus infection
    1278 (COL1A2)
  09174 Infectious disease: parasitic
   05146 Amoebiasis
    1278 (COL1A2)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    1278 (COL1A2)
  09167 Endocrine and metabolic disease
   04933 AGE-RAGE signaling pathway in diabetic complications
    1278 (COL1A2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    1278 (COL1A2)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Heparin
  Extracellular matrix molecules
   1278 (COL1A2)
SSDB
Motif
Pfam: Collagen COLFI
Other DBs
NCBI-GeneID: 1278
NCBI-ProteinID: NP_000080
OMIM: 120160
HGNC: 2198
Ensembl: ENSG00000164692
Vega: OTTHUMG00000148675
Pharos: P08123(Tbio)
UniProt: P08123 A0A0S2Z3H5
Position
7q21.3
AA seq 1366 aa
MLSFVDTRTLLLLAVTLCLATCQSLQEETVRKGPAGDRGPRGERGPPGPPGRDGEDGPTG
PPGPPGPPGPPGLGGNFAAQYDGKGVGLGPGPMGLMGPRGPPGAAGAPGPQGFQGPAGEP
GEPGQTGPAGARGPAGPPGKAGEDGHPGKPGRPGERGVVGPQGARGFPGTPGLPGFKGIR
GHNGLDGLKGQPGAPGVKGEPGAPGENGTPGQTGARGLPGERGRVGAPGPAGARGSDGSV
GPVGPAGPIGSAGPPGFPGAPGPKGEIGAVGNAGPAGPAGPRGEVGLPGLSGPVGPPGNP
GANGLTGAKGAAGLPGVAGAPGLPGPRGIPGPVGAAGATGARGLVGEPGPAGSKGESGNK
GEPGSAGPQGPPGPSGEEGKRGPNGEAGSAGPPGPPGLRGSPGSRGLPGADGRAGVMGPP
GSRGASGPAGVRGPNGDAGRPGEPGLMGPRGLPGSPGNIGPAGKEGPVGLPGIDGRPGPI
GPAGARGEPGNIGFPGPKGPTGDPGKNGDKGHAGLAGARGAPGPDGNNGAQGPPGPQGVQ
GGKGEQGPPGPPGFQGLPGPSGPAGEVGKPGERGLHGEFGLPGPAGPRGERGPPGESGAA
GPTGPIGSRGPSGPPGPDGNKGEPGVVGAVGTAGPSGPSGLPGERGAAGIPGGKGEKGEP
GLRGEIGNPGRDGARGAPGAVGAPGPAGATGDRGEAGAAGPAGPAGPRGSPGERGEVGPA
GPNGFAGPAGAAGQPGAKGERGAKGPKGENGVVGPTGPVGAAGPAGPNGPPGPAGSRGDG
GPPGMTGFPGAAGRTGPPGPSGISGPPGPPGPAGKEGLRGPRGDQGPVGRTGEVGAVGPP
GFAGEKGPSGEAGTAGPPGTPGPQGLLGAPGILGLPGSRGERGLPGVAGAVGEPGPLGIA
GPPGARGPPGAVGSPGVNGAPGEAGRDGNPGNDGPPGRDGQPGHKGERGYPGNIGPVGAA
GAPGPHGPVGPAGKHGNRGETGPSGPVGPAGAVGPRGPSGPQGIRGDKGEPGEKGPRGLP
GLKGHNGLQGLPGIAGHHGDQGAPGSVGPAGPRGPAGPSGPAGKDGRTGHPGTVGPAGIR
GPQGHQGPAGPPGPPGPPGPPGVSGGGYDFGYDGDFYRADQPRSAPSLRPKDYEVDATLK
SLNNQIETLLTPEGSRKNPARTCRDLRLSHPEWSSGYYWIDPNQGCTMDAIKVYCDFSTG
ETCIRAQPENIPAKNWYRSSKDKKHVWLGETINAGSQFEYNVEGVTSKEMATQLAFMRLL
ANYASQNITYHCKNSIAYMDEETGNLKKAVILQGSNDVELVAEGNSRFTYTVLVDGCSKK
TNEWGKTIIEYKTNKPSRLPFLDIAPLDIGGADQEFFVDIGPVCFK
NT seq 4101 nt   +upstreamnt  +downstreamnt
atgctcagctttgtggatacgcggactttgttgctgcttgcagtaaccttatgcctagca
acatgccaatctttacaagaggaaactgtaagaaagggcccagccggagatagaggacca
cgtggagaaaggggtccaccaggccccccaggcagagatggtgaagatggtcccacaggc
cctcctggtccacctggtcctcctggcccccctggtctcggtgggaactttgctgctcag
tatgatggaaaaggagttggacttggccctggaccaatgggcttaatgggacctagaggc
ccacctggtgcagctggagccccaggccctcaaggtttccaaggacctgctggtgagcct
ggtgaacctggtcaaactggtcctgcaggtgctcgtggtccagctggccctcctggcaag
gctggtgaagatggtcaccctggaaaacccggacgacctggtgagagaggagttgttgga
ccacagggtgctcgtggtttccctggaactcctggacttcctggcttcaaaggcattagg
ggacacaatggtctggatggattgaagggacagcccggtgctcctggtgtgaagggtgaa
cctggtgcccctggtgaaaatggaactccaggtcaaacaggagcccgtgggcttcctggt
gagagaggacgtgttggtgcccctggcccagctggtgcccgtggcagtgatggaagtgtg
ggtcccgtgggtcctgctggtcccattgggtctgctggccctccaggcttcccaggtgcc
cctggccccaagggtgaaattggagctgttggtaacgctggtcctgctggtcccgccggt
ccccgtggtgaagtgggtcttccaggcctctccggccccgttggacctcctggtaatcct
ggagcaaacggccttactggtgccaagggtgctgctggccttcccggcgttgctggggct
cccggcctccctggaccccgcggtattcctggccctgttggtgctgccggtgctactggt
gccagaggacttgttggtgagcctggtccagctggctccaaaggagagagcggtaacaag
ggtgagcccggctctgctgggccccaaggtcctcctggtcccagtggtgaagaaggaaag
agaggccctaatggggaagctggatctgccggccctccaggacctcctgggctgagaggt
agtcctggttctcgtggtcttcctggagctgatggcagagctggcgtcatgggccctcct
ggtagtcgtggtgcaagtggccctgctggagtccgaggacctaatggagatgctggtcgc
cctggggagcctggtctcatgggacccagaggtcttcctggttcccctggaaatatcggc
cccgctggaaaagaaggtcctgtcggcctccctggcatcgacggcaggcctggcccaatt
ggcccagctggagcaagaggagagcctggcaacattggattccctggacccaaaggcccc
actggtgatcctggcaaaaacggtgataaaggtcatgctggtcttgctggtgctcggggt
gctccaggtcctgatggaaacaatggtgctcagggacctcctggaccacagggtgttcaa
ggtggaaaaggtgaacagggtccccctggtcctccaggcttccagggtctgcctggcccc
tcaggtcccgctggtgaagttggcaaaccaggagaaaggggtctccatggtgagtttggt
ctccctggtcctgctggtccaagaggggaacgcggtcccccaggtgagagtggtgctgcc
ggtcctactggtcctattggaagccgaggtccttctggacccccagggcctgatggaaac
aagggtgaacctggtgtggttggtgctgtgggcactgctggtccatctggtcctagtgga
ctcccaggagagaggggtgctgctggcatacctggaggcaagggagaaaagggtgaacct
ggtctcagaggtgaaattggtaaccctggcagagatggtgctcgtggtgctcctggtgct
gtaggtgcccctggtcctgctggagccacaggtgaccggggcgaagctggggctgctggt
cctgctggtcctgctggtcctcggggaagccctggtgaacgtggtgaggtcggtcctgct
ggccccaatggatttgctggtcctgctggtgctgctggtcaacctggtgctaaaggagaa
agaggagccaaagggcctaagggtgaaaacggtgttgttggtcccacaggccccgttgga
gctgctggcccagctggtccaaatggtccccccggtcctgctggaagtcgtggtgatgga
ggcccccctggtatgactggtttccctggtgctgctggacggactggtcccccaggaccc
tctggtatttctggccctcctggtccccctggtcctgctgggaaagaagggcttcgtggt
cctcgtggtgaccaaggtccagttggccgaactggagaagtaggtgcagttggtccccct
ggcttcgctggtgagaagggtccctctggagaggctggtactgctggacctcctggcact
ccaggtcctcagggtcttcttggtgctcctggtattctgggtctccctggctcgagaggt
gaacgtggtctaccaggtgttgctggtgctgtgggtgaacctggtcctcttggcattgcc
ggccctcctggggcccgtggtcctcctggtgctgtgggtagtcctggagtcaacggtgct
cctggtgaagctggtcgtgatggcaaccctgggaacgatggtcccccaggtcgcgatggt
caacccggacacaagggagagcgcggttaccctggcaatattggtcccgttggtgctgca
ggtgcacctggtcctcatggccccgtgggtcctgctggcaaacatggaaaccgtggtgaa
actggtccttctggtcctgttggtcctgctggtgctgttggcccaagaggtcctagtggc
ccacaaggcattcgtggcgataagggagagcccggtgaaaaggggcccagaggtcttcct
ggcttaaagggacacaatggattgcaaggtctgcctggtatcgctggtcaccatggtgat
caaggtgctcctggctccgtgggtcctgctggtcctaggggccctgctggtccttctggc
cctgctggaaaagatggtcgcactggacatcctggtacagttggacctgctggcattcga
ggccctcagggtcaccaaggccctgctggcccccctggtccccctggccctcctggacct
ccaggtgtaagcggtggtggttatgactttggttacgatggagacttctacagggctgac
cagcctcgctcagcaccttctctcagacccaaggactatgaagttgatgctactctgaag
tctctcaacaaccagattgagacccttcttactcctgaaggctctagaaagaacccagct
cgcacatgccgtgacttgagactcagccacccagagtggagcagtggttactactggatt
gaccctaaccaaggatgcactatggatgctatcaaagtatactgtgatttctctactggc
gaaacctgtatccgggcccaacctgaaaacatcccagccaagaactggtataggagctcc
aaggacaagaaacacgtctggctaggagaaactatcaatgctggcagccagtttgaatat
aatgtagaaggagtgacttccaaggaaatggctacccaacttgccttcatgcgcctgctg
gccaactatgcctctcagaacatcacctaccactgcaagaacagcattgcatacatggat
gaggagactggcaacctgaaaaaggctgtcattctacagggctctaatgatgttgaactt
gttgctgagggcaacagcaggttcacttacactgttcttgtagatggctgctctaaaaag
acaaatgaatggggaaagacaatcattgaatacaaaacaaataagccatcacgcctgccc
ttccttgatattgcacctttggacatcggtggtgctgaccaggaattctttgtggacatt
ggcccagtctgtttcaaataa

KEGG   Homo sapiens (human): 1280
Entry
1280              CDS       T01001                                 

Gene name
COL2A1, ANFH, AOM, COL11A3, SEDC, STL1
Definition
(RefSeq) collagen type II alpha 1 chain
  KO
K19719  collagen type II alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04974  Protein digestion and absorption
hsa05165  Human papillomavirus infection
Disease
H00445  Osteoarthritis with mild chondrodysplasia
H00476  Multiple epiphyseal dysplasia
H00519  Spondyloepiphyseal dysplasia congenita
H00520  Type II collagenopathies
H00805  Vitreoretinal degeneration
H01526  Legg-Calve-Perthes Disease
H01529  Avascular necrosis of femoral head
H01709  Glucocorticoid-induced osteonecrosis
H02066  Achondrogenesis type II
H02070  Kniest dysplasia
H02071  Czech dysplasia
H02072  Stickler syndrome
H02187  Spondyloepimetaphyseal dysplasia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04151 PI3K-Akt signaling pathway
    1280 (COL2A1)
  09133 Signaling molecules and interaction
   04512 ECM-receptor interaction
    1280 (COL2A1)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04510 Focal adhesion
    1280 (COL2A1)
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    1280 (COL2A1)
 09160 Human Diseases
  09172 Infectious disease: viral
   05165 Human papillomavirus infection
    1280 (COL2A1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    1280 (COL2A1)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Heparin
  Extracellular matrix molecules
   1280 (COL2A1)
SSDB
Motif
Pfam: Collagen COLFI VWC
Other DBs
NCBI-GeneID: 1280
NCBI-ProteinID: NP_001835
OMIM: 120140
HGNC: 2200
Ensembl: ENSG00000139219
Vega: OTTHUMG00000149896
Pharos: P02458(Tbio)
UniProt: P02458
Structure
PDB: 
5NIR 1U5M

Position
12q13.11
AA seq 1487 aa
MIRLGAPQTLVLLTLLVAAVLRCQGQDVQEAGSCVQDGQRYNDKDVWKPEPCRICVCDTG
TVLCDDIICEDVKDCLSPEIPFGECCPICPTDLATASGQPGPKGQKGEPGDIKDIVGPKG
PPGPQGPAGEQGPRGDRGDKGEKGAPGPRGRDGEPGTPGNPGPPGPPGPPGPPGLGGNFA
AQMAGGFDEKAGGAQLGVMQGPMGPMGPRGPPGPAGAPGPQGFQGNPGEPGEPGVSGPMG
PRGPPGPPGKPGDDGEAGKPGKAGERGPPGPQGARGFPGTPGLPGVKGHRGYPGLDGAKG
EAGAPGVKGESGSPGENGSPGPMGPRGLPGERGRTGPAGAAGARGNDGQPGPAGPPGPVG
PAGGPGFPGAPGAKGEAGPTGARGPEGAQGPRGEPGTPGSPGPAGASGNPGTDGIPGAKG
SAGAPGIAGAPGFPGPRGPPGPQGATGPLGPKGQTGEPGIAGFKGEQGPKGEPGPAGPQG
APGPAGEEGKRGARGEPGGVGPIGPPGERGAPGNRGFPGQDGLAGPKGAPGERGPSGLAG
PKGANGDPGRPGEPGLPGARGLTGRPGDAGPQGKVGPSGAPGEDGRPGPPGPQGARGQPG
VMGFPGPKGANGEPGKAGEKGLPGAPGLRGLPGKDGETGAAGPPGPAGPAGERGEQGAPG
PSGFQGLPGPPGPPGEGGKPGDQGVPGEAGAPGLVGPRGERGFPGERGSPGAQGLQGPRG
LPGTPGTDGPKGASGPAGPPGAQGPPGLQGMPGERGAAGIAGPKGDRGDVGEKGPEGAPG
KDGGRGLTGPIGPPGPAGANGEKGEVGPPGPAGSAGARGAPGERGETGPPGPAGFAGPPG
ADGQPGAKGEQGEAGQKGDAGAPGPQGPSGAPGPQGPTGVTGPKGARGAQGPPGATGFPG
AAGRVGPPGSNGNPGPPGPPGPSGKDGPKGARGDSGPPGRAGEPGLQGPAGPPGEKGEPG
DDGPSGAEGPPGPQGLAGQRGIVGLPGQRGERGFPGLPGPSGEPGKQGAPGASGDRGPPG
PVGPPGLTGPAGEPGREGSPGADGPPGRDGAAGVKGDRGETGAVGAPGAPGPPGSPGPAG
PTGKQGDRGEAGAQGPMGPSGPAGARGIQGPQGPRGDKGEAGEPGERGLKGHRGFTGLQG
LPGPPGPSGDQGASGPAGPSGPRGPPGPVGPSGKDGANGIPGPIGPPGPRGRSGETGPAG
PPGNPGPPGPPGPPGPGIDMSAFAGLGPREKGPDPLQYMRADQAAGGLRQHDAEVDATLK
SLNNQIESIRSPEGSRKNPARTCRDLKLCHPEWKSGDYWIDPNQGCTLDAMKVFCNMETG
ETCVYPNPANVPKKNWWSSKSKEKKHIWFGETINGGFHFSYGDDNLAPNTANVQMTFLRL
LSTEGSQNITYHCKNSIAYLDEAAGNLKKALLIQGSNDVEIRAEGNSRFTYTALKDGCTK
HTGKWGKTVIEYRSQKTSRLPIIDIAPMDIGGPEQEFGVDIGPVCFL
NT seq 4464 nt   +upstreamnt  +downstreamnt
atgattcgcctcggggctccccagacgctggtgctgctgacgctgctcgtcgccgctgtc
cttcggtgtcagggccaggatgtccaggaggctggcagctgtgtgcaggatgggcagagg
tataatgataaggatgtgtggaagccggagccctgccggatctgtgtctgtgacactggg
actgtcctctgcgacgacataatctgtgaagacgtgaaagactgcctcagccctgagatc
cccttcggagagtgctgccccatctgcccaactgacctcgccactgccagtgggcaacca
ggaccaaagggacagaaaggagaacctggagacatcaaggatattgtaggacccaaagga
cctcctgggcctcagggacctgcaggggaacaaggacccagaggggatcgtggtgacaaa
ggtgaaaaaggtgcccctggacctcgtggcagagatggagaacctgggacccctggaaat
cctggcccccctggtcctcccggcccccctggtccccctggtcttggtggaaactttgct
gcccagatggctggaggatttgatgaaaaggctggtggcgcccagttgggagtaatgcaa
ggaccaatgggccccatgggacctcgaggacctccaggccctgcaggtgctcctgggcct
caaggatttcaaggcaatcctggtgaacctggtgaacctggtgtctctggtcccatgggt
ccccgtggtcctcctggtccccctggaaagcctggtgatgatggtgaagctggaaaacct
ggaaaagctggtgaaaggggtccgcctggtcctcagggtgctcgtggtttcccaggaacc
ccaggccttcctggtgtcaaaggtcacagaggttatccaggcctggacggtgctaaggga
gaggcgggtgctcctggtgtgaagggtgagagtggttccccgggtgagaacggatctccg
ggcccaatgggtcctcgtggcctgcctggtgaaagaggacggactggccctgctggcgct
gcgggtgcccgaggcaacgatggtcagccaggccccgcagggcctccgggtcctgtcggt
cctgctggtggtcctggcttccctggtgctcctggagccaagggtgaagccggccccact
ggtgcccgtggtcctgaaggtgctcaaggtcctcgcggtgaacctggtactcctgggtcc
cctgggcctgctggtgcctccggtaaccctggaacagatggaattcctggagccaaagga
tctgctggtgctcctggcattgctggtgctcctggcttccctgggccacggggccctcct
ggccctcaaggtgcaactggtcctctgggcccgaaaggtcagacgggtgaacctggtatt
gctggcttcaaaggtgaacaaggccccaagggagaacctggccctgctggcccccaggga
gcccctggacccgctggtgaagaaggcaagagaggtgcccgtggagagcctggtggcgtt
gggcccatcggtccccctggagaaagaggtgctcccggcaaccgcggtttcccaggtcaa
gatggtctggcaggtcccaagggagcccctggagagcgagggcccagtggtcttgctggc
cccaagggagccaacggtgaccctggccgtcctggagaacctggccttcctggagcccgg
ggtctcactggccgccctggtgatgctggtcctcaaggcaaagttggcccttctggagcc
cctggtgaagatggtcgtcctggacctccaggtcctcagggggctcgtgggcagcctggt
gtcatgggtttccctggccccaaaggtgccaacggtgagcctggcaaagctggtgagaag
ggactgcctggtgctcctggtctgaggggtcttcctggcaaagatggtgagacaggtgct
gcaggaccccctggccctgctggacctgctggtgaacgaggcgagcagggtgctcctggg
ccatctgggttccagggacttcctggccctcctggtcccccaggtgaaggtggaaaacca
ggtgaccagggtgttcccggtgaagctggagcccctggcctcgtgggtcccaggggtgaa
cgaggtttcccaggtgaacgtggctctcccggtgcccagggcctccagggtccccgtggc
ctccccggcactcctggcactgatggtcccaaaggtgcatctggcccagcaggcccccct
ggggctcagggccctccaggtcttcagggaatgcctggcgagaggggagcagctggtatc
gctgggcccaaaggcgacaggggtgacgttggtgagaaaggccctgagggagcccctgga
aaggatggtggacgaggcctgacaggtcccattggcccccctggcccagctggtgctaat
ggcgagaagggagaagttggacctcctggtcctgcaggaagtgctggtgctcgtggcgct
ccgggtgaacgtggagagactgggccccccggaccagcgggatttgctgggcctcctggt
gctgatggccagcctggggccaagggtgagcaaggagaggccggccagaaaggcgatgct
ggtgcccctggtcctcagggcccctctggagcacctgggcctcagggtcctactggagtg
actggtcctaaaggagcccgaggtgcccaaggccccccgggagccactggattccctgga
gctgctggccgcgttggacccccaggctccaatggcaaccctggaccccctggtccccct
ggtccttctggaaaagatggtcccaaaggtgctcgaggagacagcggcccccctggccga
gctggtgaacccggcctccaaggtcctgctggaccccctggcgagaagggagagcctgga
gatgacggtccctctggtgccgaaggtccaccaggtccccagggtctggctggtcagaga
ggcatcgtcggtctgcctgggcaacgtggtgagagaggattccctggcttgcctggcccg
tcgggtgagcccggcaagcagggtgctcctggagcatctggagacagaggtcctcctggc
cccgtgggtcctcctggcctgacgggtcctgcaggtgaacctggacgagagggaagcccc
ggtgctgatggcccccctggcagagatggcgctgctggagtcaagggtgatcgtggtgag
actggtgctgtgggagctcctggagcccctgggccccctggctcccctggccccgctggt
ccaactggcaagcaaggagacagaggagaagctggtgcacaaggccccatgggaccctca
ggaccagctggagcccggggaatccagggtcctcaaggccccagaggtgacaaaggagag
gctggagagcctggcgagagaggcctgaagggacaccgtggcttcactggtctgcagggt
ctgcccggccctcctggtccttctggagaccaaggtgcttctggtcctgctggtccttct
ggccctagaggtcctcctggccccgtcggtccctctggcaaagatggtgctaatggaatc
cctggccccattgggcctcctggtccccgtggacgatcaggcgaaaccggccctgctggt
cctcctggaaatcctggaccccctggtcctccaggtccccctggccctggcatcgacatg
tccgcctttgctggcttaggcccgagagagaagggccccgaccccctgcagtacatgcgg
gccgaccaggcagccggtggcctgagacagcatgacgccgaggtggatgccacactcaag
tccctcaacaaccagattgagagcatccgcagccccgagggctcccgcaagaaccctgct
cgcacctgcagagacctgaaactctgccaccctgagtggaagagtggagactactggatt
gaccccaaccaaggctgcaccttggacgccatgaaggttttctgcaacatggagactggc
gagacttgcgtctaccccaatccagcaaacgttcccaagaagaactggtggagcagcaag
agcaaggagaagaaacacatctggtttggagaaaccatcaatggtggcttccatttcagc
tatggagatgacaatctggctcccaacactgccaacgtccagatgaccttcctacgcctg
ctgtccacggaaggctcccagaacatcacctaccactgcaagaacagcattgcctatctg
gacgaagcagctggcaacctcaagaaggccctgctcatccagggctccaatgacgtggag
atccgggcagagggcaatagcaggttcacgtacactgccctgaaggatggctgcacgaaa
cataccggtaagtggggcaagactgttatcgagtaccggtcacagaagacctcacgcctc
cccatcattgacattgcacccatggacataggagggcccgagcaggaattcggtgtggac
atagggccggtctgcttcttgtaa

KEGG   Homo sapiens (human): 1281
Entry
1281              CDS       T01001                                 

Gene name
COL3A1, EDS4A, EDSVASC, PMGEDSV
Definition
(RefSeq) collagen type III alpha 1 chain
  KO
K19720  collagen type III alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04611  Platelet activation
hsa04926  Relaxin signaling pathway
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa04974  Protein digestion and absorption
hsa05146  Amoebiasis
hsa05415  Diabetic cardiomyopathy
Disease
H02242  Ehlers-Danlos syndrome vascular type
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09151 Immune system
   04611 Platelet activation
    1281 (COL3A1)
  09152 Endocrine system
   04926 Relaxin signaling pathway
    1281 (COL3A1)
  09154 Digestive system
   04974 Protein digestion and absorption
    1281 (COL3A1)
 09160 Human Diseases
  09174 Infectious disease: parasitic
   05146 Amoebiasis
    1281 (COL3A1)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    1281 (COL3A1)
  09167 Endocrine and metabolic disease
   04933 AGE-RAGE signaling pathway in diabetic complications
    1281 (COL3A1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    1281 (COL3A1)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Heparin
  Extracellular matrix molecules
   1281 (COL3A1)
SSDB
Motif
Pfam: Collagen COLFI VWC
Other DBs
NCBI-GeneID: 1281
NCBI-ProteinID: NP_000081
OMIM: 120180
HGNC: 2201
Ensembl: ENSG00000168542
Vega: OTTHUMG00000132648
Pharos: P02461(Tbio)
UniProt: P02461
Structure
PDB: 
4AE2 4AEJ 6FZV 6FZW 4AK3

Position
2q32.2
AA seq 1466 aa
MMSFVQKGSWLLLALLHPTIILAQQEAVEGGCSHLGQSYADRDVWKPEPCQICVCDSGSV
LCDDIICDDQELDCPNPEIPFGECCAVCPQPPTAPTRPPNGQGPQGPKGDPGPPGIPGRN
GDPGIPGQPGSPGSPGPPGICESCPTGPQNYSPQYDSYDVKSGVAVGGLAGYPGPAGPPG
PPGPPGTSGHPGSPGSPGYQGPPGEPGQAGPSGPPGPPGAIGPSGPAGKDGESGRPGRPG
ERGLPGPPGIKGPAGIPGFPGMKGHRGFDGRNGEKGETGAPGLKGENGLPGENGAPGPMG
PRGAPGERGRPGLPGAAGARGNDGARGSDGQPGPPGPPGTAGFPGSPGAKGEVGPAGSPG
SNGAPGQRGEPGPQGHAGAQGPPGPPGINGSPGGKGEMGPAGIPGAPGLMGARGPPGPAG
ANGAPGLRGGAGEPGKNGAKGEPGPRGERGEAGIPGVPGAKGEDGKDGSPGEPGANGLPG
AAGERGAPGFRGPAGPNGIPGEKGPAGERGAPGPAGPRGAAGEPGRDGVPGGPGMRGMPG
SPGGPGSDGKPGPPGSQGESGRPGPPGPSGPRGQPGVMGFPGPKGNDGAPGKNGERGGPG
GPGPQGPPGKNGETGPQGPPGPTGPGGDKGDTGPPGPQGLQGLPGTGGPPGENGKPGEPG
PKGDAGAPGAPGGKGDAGAPGERGPPGLAGAPGLRGGAGPPGPEGGKGAAGPPGPPGAAG
TPGLQGMPGERGGLGSPGPKGDKGEPGGPGADGVPGKDGPRGPTGPIGPPGPAGQPGDKG
EGGAPGLPGIAGPRGSPGERGETGPPGPAGFPGAPGQNGEPGGKGERGAPGEKGEGGPPG
VAGPPGGSGPAGPPGPQGVKGERGSPGGPGAAGFPGARGLPGPPGSNGNPGPPGPSGSPG
KDGPPGPAGNTGAPGSPGVSGPKGDAGQPGEKGSPGAQGPPGAPGPLGIAGITGARGLAG
PPGMPGPRGSPGPQGVKGESGKPGANGLSGERGPPGPQGLPGLAGTAGEPGRDGNPGSDG
LPGRDGSPGGKGDRGENGSPGAPGAPGHPGPPGPVGPAGKSGDRGESGPAGPAGAPGPAG
SRGAPGPQGPRGDKGETGERGAAGIKGHRGFPGNPGAPGSPGPAGQQGAIGSPGPAGPRG
PVGPSGPPGKDGTSGHPGPIGPPGPRGNRGERGSEGSPGHPGQPGPPGPPGAPGPCCGGV
GAAAIAGIGGEKAGGFAPYYGDEPMDFKINTDEIMTSLKSVNGQIESLISPDGSRKNPAR
NCRDLKFCHPELKSGEYWVDPNQGCKLDAIKVFCNMETGETCISANPLNVPRKHWWTDSS
AEKKHVWFGESMDGGFQFSYGNPELPEDVLDVHLAFLRLLSSRASQNITYHCKNSIAYMD
QASGNVKKALKLMGSNEGEFKAEGNSKFTYTVLEDGCTKHTGEWSKTVFEYRTRKAVRLP
IVDIAPYDIGGPDQEFGVDVGPVCFL
NT seq 4401 nt   +upstreamnt  +downstreamnt
atgatgagctttgtgcaaaaggggagctggctacttctcgctctgcttcatcccactatt
attttggcacaacaggaagctgttgaaggaggatgttcccatcttggtcagtcctatgcg
gatagagatgtctggaagccagaaccatgccaaatatgtgtctgtgactcaggatccgtt
ctctgcgatgacataatatgtgacgatcaagaattagactgccccaacccagaaattcca
tttggagaatgttgtgcagtttgcccacagcctccaactgctcctactcgccctcctaat
ggtcaaggacctcaaggccccaagggagatccaggccctcctggtattcctgggagaaat
ggtgaccctggtattccaggacaaccagggtcccctggttctcctggcccccctggaatc
tgtgaatcatgccctactggtcctcagaactattctccccagtatgattcatatgatgtc
aagtctggagtagcagtaggaggactcgcaggctatcctggaccagctggccccccaggc
cctcccggtccccctggtacatctggtcatcctggttcccctggatctccaggataccaa
ggaccccctggtgaacctgggcaagctggtccttcaggccctccaggacctcctggtgct
ataggtccatctggtcctgctggaaaagatggagaatcaggtagacccggacgacctgga
gagcgaggattgcctggacctccaggtatcaaaggtccagctgggatacctggattccct
ggtatgaaaggacacagaggcttcgatggacgaaatggagaaaagggtgaaacaggtgct
cctggattaaagggtgaaaatggtcttccaggcgaaaatggagctcctggacccatgggt
ccaagaggggctcctggtgagcgaggacggccaggacttcctggggctgcaggtgctcgg
ggtaatgacggtgctcgaggcagtgatggtcaaccaggccctcctggtcctcctggaact
gccggattccctggatcccctggtgctaagggtgaagttggacctgcagggtctcctggt
tcaaatggtgcccctggacaaagaggagaacctggacctcagggacacgctggtgctcaa
ggtcctcctggccctcctgggattaatggtagtcctggtggtaaaggcgaaatgggtccc
gctggcattcctggagctcctggactgatgggagcccggggtcctccaggaccagccggt
gctaatggtgctcctggactgcgaggtggtgcaggtgagcctggtaagaatggtgccaaa
ggagagcccggaccacgtggtgaacgcggtgaggctggtattccaggtgttccaggagct
aaaggcgaagatggcaaggatggatcacctggagaacctggtgcaaatgggcttccagga
gctgcaggagaaaggggtgcccctgggttccgaggacctgctggaccaaatggcatccca
ggagaaaagggtcctgctggagagcgtggtgctccaggccctgcagggcccagaggagct
gctggagaacctggcagagatggcgtccctggaggtccaggaatgaggggcatgcccgga
agtccaggaggaccaggaagtgatgggaaaccagggcctcccggaagtcaaggagaaagt
ggtcgaccaggtcctcctgggccatctggtccccgaggtcagcctggtgtcatgggcttc
cccggtcctaaaggaaatgatggtgctcctggtaagaatggagaacgaggtggccctgga
ggacctggccctcagggtcctcctggaaagaatggtgaaactggacctcagggaccccca
gggcctactgggcctggtggtgacaaaggagacacaggaccccctggtccacaaggatta
caaggcttgcctggtacaggtggtcctccaggagaaaatggaaaacctggggaaccaggt
ccaaagggtgatgccggtgcacctggagctccaggaggcaagggtgatgctggtgcccct
ggtgaacgtggacctcctggattggcaggggccccaggacttagaggtggagctggtccc
cctggtcccgaaggaggaaagggtgctgctggtcctcctgggccacctggtgctgctggt
actcctggtctgcaaggaatgcctggagaaagaggaggtcttggaagtcctggtccaaag
ggtgacaagggtgaaccaggcggtccaggtgctgatggtgtcccagggaaagatggccca
aggggtcctactggtcctattggtcctcctggcccagctggccagcctggagataagggt
gaaggtggtgcccccggacttccaggtatagctggacctcgtggtagccctggtgagaga
ggtgaaactggccctccaggacctgctggtttccctggtgctcctggacagaatggtgaa
cctggtggtaaaggagaaagaggggctccgggtgagaaaggtgaaggaggccctcctgga
gttgcaggaccccctggaggttctggacctgctggtcctcctggtccccaaggtgtcaaa
ggtgaacgtggcagtcctggtggacctggtgctgctggcttccctggtgctcgtggtctt
cctggtcctcctggtagtaatggtaacccaggacccccaggtcccagcggttctccaggc
aaggatgggcccccaggtcctgcgggtaacactggtgctcctggcagccctggagtgtct
ggaccaaaaggtgatgctggccaaccaggagagaagggatcgcctggtgcccagggccca
ccaggagctccaggcccacttgggattgctgggatcactggagcacggggtcttgcagga
ccaccaggcatgccaggtcctaggggaagccctggccctcagggtgtcaagggtgaaagt
gggaaaccaggagctaacggtctcagtggagaacgtggtccccctggaccccagggtctt
cctggtctggctggtacagctggtgaacctggaagagatggaaaccctggatcagatggt
cttccaggccgagatggatctcctggtggcaagggtgatcgtggtgaaaatggctctcct
ggtgcccctggcgctcctggtcatccaggcccacctggtcctgtcggtccagctggaaag
agtggtgacagaggagaaagtggccctgctggccctgctggtgctcccggtcctgctggt
tcccgaggtgctcctggtcctcaaggcccacgtggtgacaaaggtgaaacaggtgaacgt
ggagctgctggcatcaaaggacatcgaggattccctggtaatccaggtgccccaggttct
ccaggccctgctggtcagcagggtgcaatcggcagtccaggacctgcaggccccagagga
cctgttggacccagtggacctcctggcaaagatggaaccagtggacatccaggtcccatt
ggaccaccagggcctcgaggtaacagaggtgaaagaggatctgagggctccccaggccac
ccagggcaaccaggccctcctggacctcctggtgcccctggtccttgctgtggtggtgtt
ggagccgctgccattgctgggattggaggtgaaaaagctggcggttttgccccgtattat
ggagatgaaccaatggatttcaaaatcaacaccgatgagattatgacttcactcaagtct
gttaatggacaaatagaaagcctcattagtcctgatggttctcgtaaaaaccccgctaga
aactgcagagacctgaaattctgccatcctgaactcaagagtggagaatactgggttgac
cctaaccaaggatgcaaattggatgctatcaaggtattctgtaatatggaaactggggaa
acatgcataagtgccaatcctttgaatgttccacggaaacactggtggacagattctagt
gctgagaagaaacacgtttggtttggagagtccatggatggtggttttcagtttagctac
ggcaatcctgaacttcctgaagatgtccttgatgtgcatctggcattccttcgacttctc
tccagccgagcttcccagaacatcacatatcactgcaaaaatagcattgcatacatggat
caggccagtggaaatgtaaagaaggccctgaagctgatggggtcaaatgaaggtgaattc
aaggctgaaggaaatagcaaattcacctacacagttctggaggatggttgcacgaaacac
actggggaatggagcaaaacagtctttgaatatcgaacacgcaaggctgtgagactacct
attgtagatattgcaccctatgacattggtggtcctgatcaagaatttggtgtggacgtt
ggccctgtttgctttttataa

KEGG   Homo sapiens (human): 1282
Entry
1282              CDS       T01001                                 

Gene name
COL4A1, BSVD, BSVD1, COL4A1s, PADMAL, RATOR
Definition
(RefSeq) collagen type IV alpha 1 chain
  KO
K06237  collagen type IV alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04926  Relaxin signaling pathway
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa04974  Protein digestion and absorption
hsa05146  Amoebiasis
hsa05165  Human papillomavirus infection
hsa05200  Pathways in cancer
hsa05222  Small cell lung cancer
Disease
H00579  Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC)
H00839  Porencephaly
H00877  Brain small vessel disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04151 PI3K-Akt signaling pathway
    1282 (COL4A1)
  09133 Signaling molecules and interaction
   04512 ECM-receptor interaction
    1282 (COL4A1)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04510 Focal adhesion
    1282 (COL4A1)
 09150 Organismal Systems
  09152 Endocrine system
   04926 Relaxin signaling pathway
    1282 (COL4A1)
  09154 Digestive system
   04974 Protein digestion and absorption
    1282 (COL4A1)
 09160 Human Diseases
  09161 Cancer: overview
   05200 Pathways in cancer
    1282 (COL4A1)
  09162 Cancer: specific types
   05222 Small cell lung cancer
    1282 (COL4A1)
  09172 Infectious disease: viral
   05165 Human papillomavirus infection
    1282 (COL4A1)
  09174 Infectious disease: parasitic
   05146 Amoebiasis
    1282 (COL4A1)
  09167 Endocrine and metabolic disease
   04933 AGE-RAGE signaling pathway in diabetic complications
    1282 (COL4A1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    1282 (COL4A1)
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    1282 (COL4A1)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other cancer cells
   1282 (COL4A1)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Heparin
  Extracellular matrix molecules
   1282 (COL4A1)
SSDB
Motif
Pfam: Collagen C4
Other DBs
NCBI-GeneID: 1282
NCBI-ProteinID: NP_001836
OMIM: 120130
HGNC: 2202
Ensembl: ENSG00000187498
Vega: OTTHUMG00000017342
Pharos: P02462(Tbio)
UniProt: P02462
Structure
PDB: 
5NAY 6MPX 1LI1 5NAX

Position
13q34
AA seq 1669 aa
MGPRLSVWLLLLPAALLLHEEHSRAAAKGGCAGSGCGKCDCHGVKGQKGERGLPGLQGVI
GFPGMQGPEGPQGPPGQKGDTGEPGLPGTKGTRGPPGASGYPGNPGLPGIPGQDGPPGPP
GIPGCNGTKGERGPLGPPGLPGFAGNPGPPGLPGMKGDPGEILGHVPGMLLKGERGFPGI
PGTPGPPGLPGLQGPVGPPGFTGPPGPPGPPGPPGEKGQMGLSFQGPKGDKGDQGVSGPP
GVPGQAQVQEKGDFATKGEKGQKGEPGFQGMPGVGEKGEPGKPGPRGKPGKDGDKGEKGS
PGFPGEPGYPGLIGRQGPQGEKGEAGPPGPPGIVIGTGPLGEKGERGYPGTPGPRGEPGP
KGFPGLPGQPGPPGLPVPGQAGAPGFPGERGEKGDRGFPGTSLPGPSGRDGLPGPPGSPG
PPGQPGYTNGIVECQPGPPGDQGPPGIPGQPGFIGEIGEKGQKGESCLICDIDGYRGPPG
PQGPPGEIGFPGQPGAKGDRGLPGRDGVAGVPGPQGTPGLIGQPGAKGEPGEFYFDLRLK
GDKGDPGFPGQPGMPGRAGSPGRDGHPGLPGPKGSPGSVGLKGERGPPGGVGFPGSRGDT
GPPGPPGYGPAGPIGDKGQAGFPGGPGSPGLPGPKGEPGKIVPLPGPPGAEGLPGSPGFP
GPQGDRGFPGTPGRPGLPGEKGAVGQPGIGFPGPPGPKGVDGLPGDMGPPGTPGRPGFNG
LPGNPGVQGQKGEPGVGLPGLKGLPGLPGIPGTPGEKGSIGVPGVPGEHGAIGPPGLQGI
RGEPGPPGLPGSVGSPGVPGIGPPGARGPPGGQGPPGLSGPPGIKGEKGFPGFPGLDMPG
PKGDKGAQGLPGITGQSGLPGLPGQQGAPGIPGFPGSKGEMGVMGTPGQPGSPGPVGAPG
LPGEKGDHGFPGSSGPRGDPGLKGDKGDVGLPGKPGSMDKVDMGSMKGQKGDQGEKGQIG
PIGEKGSRGDPGTPGVPGKDGQAGQPGQPGPKGDPGISGTPGAPGLPGPKGSVGGMGLPG
TPGEKGVPGIPGPQGSPGLPGDKGAKGEKGQAGPPGIGIPGLRGEKGDQGIAGFPGSPGE
KGEKGSIGIPGMPGSPGLKGSPGSVGYPGSPGLPGEKGDKGLPGLDGIPGVKGEAGLPGT
PGPTGPAGQKGEPGSDGIPGSAGEKGEPGLPGRGFPGFPGAKGDKGSKGEVGFPGLAGSP
GIPGSKGEQGFMGPPGPQGQPGLPGSPGHATEGPKGDRGPQGQPGLPGLPGPMGPPGLPG
IDGVKGDKGNPGWPGAPGVPGPKGDPGFQGMPGIGGSPGITGSKGDMGPPGVPGFQGPKG
LPGLQGIKGDQGDQGVPGAKGLPGPPGPPGPYDIIKGEPGLPGPEGPPGLKGLQGLPGPK
GQQGVTGLVGIPGPPGIPGFDGAPGQKGEMGPAGPTGPRGFPGPPGPDGLPGSMGPPGTP
SVDHGFLVTRHSQTIDDPQCPSGTKILYHGYSLLYVQGNERAHGQDLGTAGSCLRKFSTM
PFLFCNINNVCNFASRNDYSYWLSTPEPMPMSMAPITGENIRPFISRCAVCEAPAMVMAV
HSQTIQIPPCPSGWSSLWIGYSFVMHTSAGAEGSGQALASPGSCLEEFRSAPFIECHGRG
TCNYYANAYSFWLATIERSEMFKKPTPSTLKAGELRTHVSRCQVCMRRT
NT seq 5010 nt   +upstreamnt  +downstreamnt
atggggccccggctcagcgtctggctgctgctgctgcccgccgcccttctgctccacgag
gagcacagccgggccgctgcgaagggtggctgtgctggctctggctgtggcaaatgtgac
tgccatggagtgaagggacaaaagggtgaaagaggcctcccggggttacaaggtgtcatt
gggtttcctggaatgcaaggacctgaggggccacagggaccaccaggacaaaagggtgat
actggagaaccaggactacctggaacaaaagggacaagaggacctccgggagcatctggc
taccctggaaacccaggacttcccggaattcctggccaagacggcccgccaggcccccca
ggtattccaggatgcaatggcacaaagggggagagagggccgctcgggcctcctggcttg
cctggtttcgctggaaatcccggaccaccaggcttaccagggatgaagggtgatccaggt
gagatacttggccatgtgcccgggatgctgttgaaaggtgaaagaggatttcccggaatc
ccagggactccaggcccaccaggactgccagggcttcaaggtcctgttgggcctccagga
tttaccggaccaccaggtcccccaggccctcccggccctccaggtgaaaagggacaaatg
ggcttaagttttcaaggaccaaaaggtgacaagggtgaccaaggggtcagtgggcctcca
ggagtaccaggacaagctcaagttcaagaaaaaggagacttcgccaccaagggagaaaag
ggccaaaaaggtgaacctggatttcaggggatgccaggggtcggagagaaaggtgaaccc
ggaaaaccaggacccagaggcaaacccggaaaagatggtgacaaaggggaaaaagggagt
cccggttttcctggtgaacccgggtacccaggactcataggccgccagggcccgcaggga
gaaaagggtgaagcaggtcctcctggcccacctggaattgttataggcacaggacctttg
ggagaaaaaggagagaggggctaccctggaactccggggccaagaggagagccaggccca
aaaggtttcccaggactaccaggccaacccggacctccaggcctccctgtacctgggcag
gctggtgcccctggcttccctggtgaaagaggagaaaaaggtgaccgaggatttcctggt
acatctctgccaggaccaagtggaagagatgggctcccgggtcctcctggttcccctggg
ccccctgggcagcctggctacacaaatggaattgtggaatgtcagcccggacctccaggt
gaccagggtcctcctggaattccagggcagccaggatttataggcgaaattggagagaaa
ggtcaaaaaggagagagttgcctcatctgtgatatagacggatatcgggggcctcccggg
ccacagggacccccgggagaaataggtttcccagggcagccaggggccaagggcgacaga
ggtttgcctggcagagatggtgttgcaggagtgccaggccctcaaggtacaccagggctg
ataggccagccaggagccaagggggagcctggtgagttttatttcgacttgcggctcaaa
ggtgacaaaggagacccaggctttccaggacagcccggcatgccagggagagcgggttct
cctggaagagatggccatccgggtcttcctggccccaagggctcgccgggttctgtagga
ttgaaaggagagcgtggcccccctggaggagttggattcccaggcagtcgtggtgacacc
ggcccccctgggcctccaggatatggtcctgctggtcccattggtgacaaaggacaagca
ggctttcctggaggccctggatccccaggcctgccaggtccaaagggtgaaccaggaaaa
attgttcctttaccaggcccccctggagcagaaggactgccggggtccccaggcttccca
ggtccccaaggagaccgaggctttcccggaaccccaggaaggccaggcctgccaggagag
aagggcgctgtgggccagccaggcattggatttccagggccccccggccccaaaggtgtt
gacggcttacctggagacatggggccaccggggactccaggtcgcccgggatttaatggc
ttacctgggaacccaggtgtgcagggccagaagggagagcctggagttggtctaccggga
ctcaaaggtttgccaggtcttcccggcattcctggcacacccggggagaaggggagcatt
ggggtaccaggcgttcctggagaacatggagcgatcggaccccctgggcttcaggggatc
agaggtgaaccgggacctcctggattgccaggctccgtggggtctccaggagttccagga
ataggcccccctggagctaggggtccccctggaggacagggaccaccggggttgtcaggc
cctcctggaataaaaggagagaagggtttccccggattccctggactggacatgccgggc
cctaaaggagataaaggggctcaaggactccctggcataacgggacagtcggggctccct
ggccttcctggacagcagggggctcctgggattcctgggtttccaggttccaagggagaa
atgggcgtcatggggacccccgggcagccgggctcaccaggaccagtgggtgctcctgga
ttaccgggtgaaaaaggggaccatggctttccgggctcctcaggacccaggggagaccct
ggcttgaaaggtgataagggggatgtcggtctccctggcaagcctggctccatggataag
gtggacatgggcagcatgaagggccagaaaggagaccaaggagagaaaggacaaattgga
ccaattggtgagaagggatcccgaggagaccctgggaccccaggagtgcctggaaaggac
gggcaggcaggacagcctgggcagccaggacctaaaggtgatccaggtataagtggaacc
ccaggtgctccaggacttccgggaccaaaaggatctgttggtggaatgggcttgccagga
acacctggagagaaaggtgtgcctggcatccctggcccacaaggttcacctggcttacct
ggagacaaaggtgcaaaaggagagaaagggcaggcaggcccacctggcataggcatccca
gggctgcgaggtgaaaagggagatcaagggatagcgggtttcccaggaagccctggagag
aagggagaaaaaggaagcattgggatcccaggaatgccagggtccccaggccttaaaggg
tctcccgggagtgttggctatccaggaagtcctgggctacctggagaaaaaggtgacaaa
ggcctcccaggattggatggcatccctggtgtcaaaggagaagcaggtcttcctgggact
cctggccccacaggcccagctggccagaaaggggagccaggcagtgatggaatcccgggg
tcagcaggagagaagggtgaaccaggtctaccaggaagaggattcccagggtttccaggg
gccaaaggagacaaaggttcaaagggtgaggtgggtttcccaggattagccgggagccca
ggaattcctggatccaaaggagagcaaggattcatgggtcctccggggccccagggacag
ccggggttaccgggatccccaggccatgccacggaggggcccaaaggagaccgcggacct
cagggccagcctggcctgccaggacttccgggacccatggggcctccagggcttcctggg
attgatggagttaaaggtgacaaaggaaatccaggctggccaggagcacccggtgtccca
gggcccaagggagaccctggattccagggcatgcctggtattggtggctctccaggaatc
acaggctctaagggtgatatggggcctccaggagttccaggatttcaaggtccaaaaggt
cttcctggcctccagggaattaaaggtgatcaaggcgatcaaggcgtcccgggagctaaa
ggtctcccgggtcctcctggccccccaggtccttacgacatcatcaaaggggagcccggg
ctccctggtcctgagggccccccagggctgaaagggcttcagggactgccaggcccgaaa
ggccagcaaggtgttacaggattggtgggtatacctggacctccaggtattcctgggttt
gacggtgcccctggccagaaaggagagatgggacctgccgggcctactggtccaagagga
tttccaggtccaccaggccccgatgggttgccaggatccatggggcccccaggcacccca
tctgttgatcacggcttccttgtgaccaggcatagtcaaacaatagatgacccacagtgt
ccttctgggaccaaaattctttaccacgggtactctttgctctacgtgcaaggcaatgaa
cgggcccatggccaggacttgggcacggccggcagctgcctgcgcaagttcagcacaatg
cccttcctgttctgcaatattaacaacgtgtgcaactttgcatcacgaaatgactactcg
tactggctgtccacccctgagcccatgcccatgtcaatggcacccatcacgggggaaaac
ataagaccatttattagtaggtgtgctgtgtgtgaggcgcctgccatggtgatggccgtg
cacagccagaccattcagatcccaccgtgccccagcgggtggtcctcgctgtggatcggc
tactcttttgtgatgcacaccagcgctggtgcagaaggctctggccaagccctggcgtcc
cccggctcctgcctggaggagtttagaagtgcgccattcatcgagtgtcacggccgtggg
acctgcaattactacgcaaacgcttacagcttttggctcgccaccatagagaggagcgag
atgttcaagaagcctacgccgtccaccttgaaggcaggggagctgcgcacgcacgtcagc
cgctgccaagtctgtatgagaagaacataa

KEGG   Homo sapiens (human): 1284
Entry
1284              CDS       T01001                                 

Gene name
COL4A2, BSVD2, ICH, POREN2
Definition
(RefSeq) collagen type IV alpha 2 chain
  KO
K06237  collagen type IV alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04926  Relaxin signaling pathway
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa04974  Protein digestion and absorption
hsa05146  Amoebiasis
hsa05165  Human papillomavirus infection
hsa05200  Pathways in cancer
hsa05222  Small cell lung cancer
Disease
H00839  Porencephaly
H00877  Brain small vessel disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04151 PI3K-Akt signaling pathway
    1284 (COL4A2)
  09133 Signaling molecules and interaction
   04512 ECM-receptor interaction
    1284 (COL4A2)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04510 Focal adhesion
    1284 (COL4A2)
 09150 Organismal Systems
  09152 Endocrine system
   04926 Relaxin signaling pathway
    1284 (COL4A2)
  09154 Digestive system
   04974 Protein digestion and absorption
    1284 (COL4A2)
 09160 Human Diseases
  09161 Cancer: overview
   05200 Pathways in cancer
    1284 (COL4A2)
  09162 Cancer: specific types
   05222 Small cell lung cancer
    1284 (COL4A2)
  09172 Infectious disease: viral
   05165 Human papillomavirus infection
    1284 (COL4A2)
  09174 Infectious disease: parasitic
   05146 Amoebiasis
    1284 (COL4A2)
  09167 Endocrine and metabolic disease
   04933 AGE-RAGE signaling pathway in diabetic complications
    1284 (COL4A2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    1284 (COL4A2)
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    1284 (COL4A2)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other cancer cells
   1284 (COL4A2)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Heparin
  Extracellular matrix molecules
   1284 (COL4A2)
SSDB
Motif
Pfam: Collagen C4
Other DBs
NCBI-GeneID: 1284
NCBI-ProteinID: NP_001837
OMIM: 120090
HGNC: 2203
Ensembl: ENSG00000134871
Vega: OTTHUMG00000017344
Pharos: P08572(Tbio)
UniProt: P08572 A0A024RDW8
Structure
PDB: 
1LI1 5NB2 5NAX

Position
13q34
AA seq 1712 aa
MGRDQRAVAGPALRRWLLLGTVTVGFLAQSVLAGVKKFDVPCGGRDCSGGCQCYPEKGGR
GQPGPVGPQGYNGPPGLQGFPGLQGRKGDKGERGAPGVTGPKGDVGARGVSGFPGADGIP
GHPGQGGPRGRPGYDGCNGTQGDSGPQGPPGSEGFTGPPGPQGPKGQKGEPYALPKEERD
RYRGEPGEPGLVGFQGPPGRPGHVGQMGPVGAPGRPGPPGPPGPKGQQGNRGLGFYGVKG
EKGDVGQPGPNGIPSDTLHPIIAPTGVTFHPDQYKGEKGSEGEPGIRGISLKGEEGIMGF
PGLRGYPGLSGEKGSPGQKGSRGLDGYQGPDGPRGPKGEAGDPGPPGLPAYSPHPSLAKG
ARGDPGFPGAQGEPGSQGEPGDPGLPGPPGLSIGDGDQRRGLPGEMGPKGFIGDPGIPAL
YGGPPGPDGKRGPPGPPGLPGPPGPDGFLFGLKGAKGRAGFPGLPGSPGARGPKGWKGDA
GECRCTEGDEAIKGLPGLPGPKGFAGINGEPGRKGDRGDPGQHGLPGFPGLKGVPGNIGA
PGPKGAKGDSRTITTKGERGQPGVPGVPGMKGDDGSPGRDGLDGFPGLPGPPGDGIKGPP
GDPGYPGIPGTKGTPGEMGPPGLGLPGLKGQRGFPGDAGLPGPPGFLGPPGPAGTPGQID
CDTDVKRAVGGDRQEAIQPGCIGGPKGLPGLPGPPGPTGAKGLRGIPGFAGADGGPGPRG
LPGDAGREGFPGPPGFIGPRGSKGAVGLPGPDGSPGPIGLPGPDGPPGERGLPGEVLGAQ
PGPRGDAGVPGQPGLKGLPGDRGPPGFRGSQGMPGMPGLKGQPGLPGPSGQPGLYGPPGL
HGFPGAPGQEGPLGLPGIPGREGLPGDRGDPGDTGAPGPVGMKGLSGDRGDAGFTGEQGH
PGSPGFKGIDGMPGTPGLKGDRGSPGMDGFQGMPGLKGRPGFPGSKGEAGFFGIPGLKGL
AGEPGFKGSRGDPGPPGPPPVILPGMKDIKGEKGDEGPMGLKGYLGAKGIQGMPGIPGLS
GIPGLPGRPGHIKGVKGDIGVPGIPGLPGFPGVAGPPGITGFPGFIGSRGDKGAPGRAGL
YGEIGATGDFGDIGDTINLPGRPGLKGERGTTGIPGLKGFFGEKGTEGDIGFPGITGVTG
VQGPPGLKGQTGFPGLTGPPGSQGELGRIGLPGGKGDDGWPGAPGLPGFPGLRGIRGLHG
LPGTKGFPGSPGSDIHGDPGFPGPPGERGDPGEANTLPGPVGVPGQKGDQGAPGERGPPG
SPGLQGFPGITPPSNISGAPGDKGAPGIFGLKGYRGPPGPPGSAALPGSKGDTGNPGAPG
TPGTKGWAGDSGPQGRPGVFGLPGEKGPRGEQGFMGNTGPTGAVGDRGPKGPKGDPGFPG
APGTVGAPGIAGIPQKIAVQPGTVGPQGRRGPPGAPGEMGPQGPPGEPGFRGAPGKAGPQ
GRGGVSAVPGFRGDEGPIGHQGPIGQEGAPGRPGSPGLPGMPGRSVSIGYLLVKHSQTDQ
EPMCPVGMNKLWSGYSLLYFEGQEKAHNQDLGLAGSCLARFSTMPFLYCNPGDVCYYASR
NDKSYWLSTTAPLPMMPVAEDEIKPYISRCSVCEAPAIAIAVHSQDVSIPHCPAGWRSLW
IGYSFLMHTAAGDEGGGQSLVSPGSCLEDFRATPFIECNGGRGTCHYYANKYSFWLTTIP
EQSFQGSPSADTLKAGLIRTHISRCQVCMKNL
NT seq 5139 nt   +upstreamnt  +downstreamnt
atggggagagaccagcgcgcggtggccggccctgccctacggcggtggctgctgctgggg
acagtgaccgtggggttcctcgcccagagcgtcttggcgggtgtgaagaagtttgatgtg
ccgtgtggaggaagagattgcagtgggggctgccagtgctaccctgagaaaggtggacgt
ggtcagcctgggccagtgggcccccaggggtacaatgggccaccaggattacaaggattc
ccgggactgcagggacgtaaaggagacaagggtgaaaggggagcccccggagtaacggga
cccaagggcgacgtgggagcaagaggcgtttctggattccctggtgccgatggaattcct
ggacacccggggcaaggtgggcccaggggaaggccgggctacgatggctgcaacggaacc
cagggagactcaggtccacaggggccccccggctctgaggggttcaccgggcctcccggg
ccccaaggaccaaaagggcagaaaggtgagccttatgcactgcctaaagaggagcgcgac
agatatcggggtgaacctggagagcctggattggtcggtttccagggacctcccggccgc
cctgggcatgtgggacagatgggtccagttggagctccagggagaccaggaccacctgga
ccccctggaccaaaaggacagcaaggcaacagaggacttggtttctacggagttaagggt
gaaaagggtgacgtagggcagccgggacccaacgggattccatcagacaccctccacccc
atcatcgcgcccacaggagtcaccttccacccagatcagtacaagggtgaaaaaggcagt
gagggggaaccaggaataagaggcatttccttgaagggagaagaaggaatcatgggcttt
cctggactgaggggttaccctggcttgagtggtgaaaaaggatcaccaggacagaaggga
agccgaggcctggatggctatcaagggcctgatggaccccggggacccaagggagaagcc
ggagacccagggccccctggactacctgcctactcccctcacccttccctagcaaaaggt
gccagaggtgacccgggattcccaggggcccaaggggagccaggaagccagggtgagcca
ggagacccgggcctcccaggtccccctggcctctccatcggagatggagatcagaggaga
ggcctgccgggtgagatgggacccaagggcttcatcggagaccccggcatccctgcgctc
tacgggggcccacctggacctgatggaaagcgagggcctccaggaccccccgggctccct
ggaccacctggacctgatggcttcctgtttgggctgaaaggagcaaaaggaagagcaggc
ttccctgggcttcccggctcccctggagcccgcggaccaaaggggtggaaaggtgacgct
ggggaatgcagatgtacagaaggcgacgaagctatcaaaggtcttccgggactgccagga
cccaagggcttcgcaggcatcaacggggagccggggaggaaaggggacagaggagacccc
ggccaacacggcctccctgggttcccagggctcaagggagtgcctggcaacattggtgct
cccggacccaaaggagcaaaaggagattccagaacaatcacaaccaaaggtgagcgggga
cagcccggcgtcccaggtgtgcccgggatgaaaggtgacgatggcagcccaggccgcgat
gggctcgatggattccccggcctcccaggccctcccggtgatggcatcaagggccctcca
ggggacccaggctatccaggaatacctggaacgaagggtactccaggagaaatgggcccc
ccaggactgggccttcccggcctcaaaggccaacgtggtttccctggagacgccggctta
cctggaccaccaggcttcctgggccctcctggccccgcagggaccccaggacaaatagat
tgtgacacagatgtgaaaagggccgttggaggtgacagacaggaggccatccagccaggt
tgcataggagggcccaagggattgccaggcctgccaggacccccaggccccacaggtgcc
aaaggcctccgaggaatcccaggcttcgcaggagctgatggaggaccagggcccaggggc
ttgccaggagacgcaggtcgtgaagggttcccaggacccccagggttcataggaccccga
ggatccaaaggtgcagtgggcctccctggcccagatggatccccaggtcccatcggcctg
ccagggccagatgggccccctggggaaaggggcctccctggagaagtcctgggagctcag
cccgggccacggggagatgctggtgtgcctggacagcctgggcttaaaggccttcccgga
gacagaggcccccctggattcagaggaagccaagggatgcctgggatgccagggctgaag
ggccagccaggcctcccaggaccttccggccagccaggcctgtatgggcctccaggactg
catggattcccaggagctcctggccaagaggggcccttggggctgccaggaatcccaggc
cgtgaaggtctgcctggtgatagaggggaccctggggacacaggcgctcctggccctgtg
ggcatgaaaggtctctctggtgacagaggagatgctggcttcacaggggagcaaggccat
ccaggaagccctggatttaaaggaattgatggaatgcctgggacccccgggctaaaagga
gatagaggctcacctgggatggatggtttccaaggcatgcctggactcaaagggagaccc
gggtttccagggagcaaaggcgaggctggatttttcggaatacccggtctgaagggtctg
gctggtgagccaggttttaaaggcagccgaggggaccctgggcccccaggaccacctcct
gtcatcctgccaggaatgaaagacattaaaggagagaaaggagatgaagggcctatgggg
ctgaaaggatacctgggcgcaaaaggtatccaaggaatgccaggcatcccagggctgtca
ggaatccctgggctgcctgggaggcccggccacatcaaaggagtcaagggagacatcgga
gtccccggcatccccggtttgccaggattccctggggtggctggcccccctggaattacg
ggattcccaggattcataggaagccggggtgacaaaggtgccccagggagagcaggcctg
tatggcgagattggcgcgactggtgatttcggtgacatcggggacactataaatttacca
ggaagaccaggcctgaagggggagcggggcaccactggaataccaggtctgaagggattc
tttggagagaagggaacagaaggtgacatcggcttccctgggataacaggcgtgactgga
gtccaaggccctcctggacttaaaggacaaacaggctttccagggctgactgggcctcca
gggtcgcagggagagctggggcggattggactgcctggtggcaaaggagatgatggctgg
ccgggagctccgggcttaccaggttttccgggactccgtgggatccgcggcttacacggc
ttgccaggcaccaagggctttccaggatccccaggttctgacatccacggagacccaggc
ttcccaggccctcctggggaaagaggtgacccaggagaggccaacacccttccaggccct
gtgggagtcccaggacagaaaggagaccaaggagctccaggggaacgaggcccacctggg
agcccaggacttcaggggttccctggtatcacacccccttccaacatctctggggcacct
ggtgacaaaggggcgccagggatatttggcctgaaaggttatcggggcccaccagggcca
ccaggttctgctgctcttcctggaagcaaaggtgacacagggaacccaggagctccagga
accccagggaccaaaggatgggccggggactccgggccccagggcaggcctggtgtgttt
ggtctcccaggagaaaaagggcccaggggtgaacaaggcttcatggggaacactggaccc
actggggcggtgggcgacagaggccccaagggacccaagggagacccaggattccctggt
gcccccgggactgtgggagcccccgggattgcaggaatcccccagaagattgccgtccaa
ccagggacagtgggtccccaggggaggcgaggcccccctggggcaccgggggagatgggg
ccccagggcccccccggagaaccaggtttccgtggggctccagggaaagctgggccccaa
ggaagaggtggtgtgtctgctgttcccggcttccggggagatgaaggacccataggccac
caggggccgattggccaagaaggtgcaccaggccgtccagggagcccgggcctgccgggt
atgccaggccgcagcgtcagcatcggctacctcctggtgaagcacagccagacggaccag
gagcccatgtgcccagtgggcatgaacaaactctggagtggatacagcctgctgtacttc
gagggccaggagaaggcgcacaaccaggacctggggctggcgggctcctgcctggcgcgg
ttcagcaccatgcccttcctgtactgcaaccctggtgatgtctgctactatgccagccgg
aacgacaagtcctactggctctctaccactgcgccgctgcccatgatgcccgtggccgag
gacgagatcaagccctacatcagccgctgttctgtgtgtgaggccccggccatcgccatc
gcggtccacagtcaggatgtctccatcccacactgcccagctgggtggcggagtttgtgg
atcggatattccttcctcatgcacacggcggcgggagacgaaggcggtggccaatcactg
gtgtcaccgggcagctgtctagaggacttccgcgccacaccattcatcgaatgcaatgga
ggccgcggcacctgccactactacgccaacaagtacagcttctggctgaccaccattccc
gagcagagcttccagggctcgccctccgccgacacgctcaaggccggcctcatccgcaca
cacatcagccgctgccaggtgtgcatgaagaacctgtga

KEGG   Homo sapiens (human): 1285
Entry
1285              CDS       T01001                                 

Gene name
COL4A3, ATS2, ATS3
Definition
(RefSeq) collagen type IV alpha 3 chain
  KO
K06237  collagen type IV alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04926  Relaxin signaling pathway
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa04974  Protein digestion and absorption
hsa05146  Amoebiasis
hsa05165  Human papillomavirus infection
hsa05200  Pathways in cancer
hsa05222  Small cell lung cancer
Disease
H00581  Alport syndrome
H00582  Benign familial hematuria
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04151 PI3K-Akt signaling pathway
    1285 (COL4A3)
  09133 Signaling molecules and interaction
   04512 ECM-receptor interaction
    1285 (COL4A3)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04510 Focal adhesion
    1285 (COL4A3)
 09150 Organismal Systems
  09152 Endocrine system
   04926 Relaxin signaling pathway
    1285 (COL4A3)
  09154 Digestive system
   04974 Protein digestion and absorption
    1285 (COL4A3)
 09160 Human Diseases
  09161 Cancer: overview
   05200 Pathways in cancer
    1285 (COL4A3)
  09162 Cancer: specific types
   05222 Small cell lung cancer
    1285 (COL4A3)
  09172 Infectious disease: viral
   05165 Human papillomavirus infection
    1285 (COL4A3)
  09174 Infectious disease: parasitic
   05146 Amoebiasis
    1285 (COL4A3)
  09167 Endocrine and metabolic disease
   04933 AGE-RAGE signaling pathway in diabetic complications
    1285 (COL4A3)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    1285 (COL4A3)
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    1285 (COL4A3)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other cancer cells
   1285 (COL4A3)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Heparin
  Extracellular matrix molecules
   1285 (COL4A3)
SSDB
Motif
Pfam: Collagen C4
Other DBs
NCBI-GeneID: 1285
NCBI-ProteinID: NP_000082
OMIM: 120070
HGNC: 2204
Ensembl: ENSG00000169031
Vega: OTTHUMG00000149891
Pharos: Q01955(Tbio)
UniProt: Q01955
Structure
PDB: 
5NB0

Position
2q36.3
AA seq 1670 aa
MSARTAPRPQVLLLPLLLVLLAAAPAASKGCVCKDKGQCFCDGAKGEKGEKGFPGPPGSP
GQKGFTGPEGLPGPQGPKGFPGLPGLTGSKGVRGISGLPGFSGSPGLPGTPGNTGPYGLV
GVPGCSGSKGEQGFPGLPGTLGYPGIPGAAGLKGQKGAPAKEEDIELDAKGDPGLPGAPG
PQGLPGPPGFPGPVGPPGPPGFFGFPGAMGPRGPKGHMGERVIGHKGERGVKGLTGPPGP
PGTVIVTLTGPDNRTDLKGEKGDKGAMGEPGPPGPSGLPGESYGSEKGAPGDPGLQGKPG
KDGVPGFPGSEGVKGNRGFPGLMGEDGIKGQKGDIGPPGFRGPTEYYDTYQEKGDEGTPG
PPGPRGARGPQGPSGPPGVPGSPGSSRPGLRGAPGWPGLKGSKGERGRPGKDAMGTPGSP
GCAGSPGLPGSPGPPGPPGDIVFRKGPPGDHGLPGYLGSPGIPGVDGPKGEPGLLCTQCP
YIPGPPGLPGLPGLHGVKGIPGRQGAAGLKGSPGSPGNTGLPGFPGFPGAQGDPGLKGEK
GETLQPEGQVGVPGDPGLRGQPGRKGLDGIPGTPGVKGLPGPKGELALSGEKGDQGPPGD
PGSPGSPGPAGPAGPPGYGPQGEPGLQGTQGVPGAPGPPGEAGPRGELSVSTPVPGPPGP
PGPPGHPGPQGPPGIPGSLGKCGDPGLPGPDGEPGIPGIGFPGPPGPKGDQGFPGTKGSL
GCPGKMGEPGLPGKPGLPGAKGEPAVAMPGGPGTPGFPGERGNSGEHGEIGLPGLPGLPG
TPGNEGLDGPRGDPGQPGPPGEQGPPGRCIEGPRGAQGLPGLNGLKGQQGRRGKTGPKGD
PGIPGLDRSGFPGETGSPGIPGHQGEMGPLGQRGYPGNPGILGPPGEDGVIGMMGFPGAI
GPPGPPGNPGTPGQRGSPGIPGVKGQRGTPGAKGEQGDKGNPGPSEISHVIGDKGEPGLK
GFAGNPGEKGNRGVPGMPGLKGLKGLPGPAGPPGPRGDLGSTGNPGEPGLRGIPGSMGNM
GMPGSKGKRGTLGFPGRAGRPGLPGIHGLQGDKGEPGYSEGTRPGPPGPTGDPGLPGDMG
KKGEMGQPGPPGHLGPAGPEGAPGSPGSPGLPGKPGPHGDLGFKGIKGLLGPPGIRGPPG
LPGFPGSPGPMGIRGDQGRDGIPGPAGEKGETGLLRAPPGPRGNPGAQGAKGDRGAPGFP
GLPGRKGAMGDAGPRGPTGIEGFPGPPGLPGAIIPGQTGNRGPPGSRGSPGAPGPPGPPG
SHVIGIKGDKGSMGHPGPKGPPGTAGDMGPPGRLGAPGTPGLPGPRGDPGFQGFPGVKGE
KGNPGFLGSIGPPGPIGPKGPPGVRGDPGTLKIISLPGSPGPPGTPGEPGMQGEPGPPGP
PGNLGPCGPRGKPGKDGKPGTPGPAGEKGNKGSKGEPGPAGSDGLPGLKGKRGDSGSPAT
WTTRGFVFTRHSQTTAIPSCPEGTVPLYSGFSFLFVQGNQRAHGQDLGTLGSCLQRFTTM
PFLFCNVNDVCNFASRNDYSYWLSTPALMPMNMAPITGRALEPYISRCTVCEGPAIAIAV
HSQTTDIPPCPHGWISLWKGFSFIMFTSAGSEGTGQALASPGSCLEEFRASPFLECHGRG
TCNYYSNSYSFWLASLNPERMFRKPIPSTVKAGELEKIISRCQVCMKKRH
NT seq 5013 nt   +upstreamnt  +downstreamnt
atgagcgcccggaccgcccccaggccgcaggtgctcctgctgccgctcctgctggtgctc
ctggcggcggcgcccgcagccagcaagggttgtgtctgtaaagacaaaggccagtgcttc
tgtgacggggccaaaggggagaagggggagaagggctttcctggaccccccggttctcct
ggccagaaaggattcacaggtcctgaaggcttgcctggaccgcagggacccaagggcttt
ccaggacttccaggactcacgggttccaaaggtgtaaggggaataagtggattgccagga
ttttctggttctcctggacttccaggcaccccaggcaataccgggccttacggacttgtc
ggtgtaccaggatgcagtggttctaagggtgagcaggggtttccaggactcccagggaca
ctgggctacccagggatcccgggtgctgctggtttgaaaggacaaaagggtgctcctgct
aaagaagaagatatagaacttgatgcaaaaggcgaccccgggttgccaggggctccagga
ccccagggtttgccaggccctccaggttttcctgggcctgttggcccacctggtcctccg
ggattctttggctttccaggagccatgggacctagaggacctaagggtcacatgggtgaa
agagtgataggacataaaggagagcggggtgtgaaagggttaacaggacccccgggacca
ccaggaacagttattgtgaccctaactggcccagataacagaacggacctcaagggggaa
aagggagacaagggagcaatgggcgagcctggacctcctggaccctcaggactgcctgga
gaatcatatggatctgaaaagggtgctcctggagaccctggcctgcagggaaaacccgga
aaagatggtgttcctggcttccctggaagtgagggagtcaagggcaacaggggtttccct
gggttaatgggtgaagatggcattaagggacagaaaggggacattggccctccaggattt
cgtggtccaacagaatattatgacacataccaggaaaagggagatgaaggcactccaggc
ccaccagggcccagaggagctcgtggcccacaaggtcccagtggtccccccggagttcct
ggaagtcctggatcatcaaggcctggcctcagaggagcccctggatggccaggcctgaaa
ggaagtaaaggggaacgaggccgcccaggaaaggatgccatggggactcctgggtcccca
ggttgtgctggttcaccaggtcttccaggatcaccgggacctccaggaccgccaggtgac
atcgtttttcgcaagggtccacctggagatcacggactgccaggctatctagggtctcca
ggaatcccaggagttgatgggcccaaaggagaaccaggcctcctgtgtacacagtgccct
tatatcccagggcctcccggtctcccaggattgccagggttacatggtgtaaaaggaatc
ccaggaagacaaggcgcagctggcttgaaaggaagcccagggtccccaggaaatacaggt
cttccaggatttccaggtttcccaggtgcccagggtgacccaggacttaaaggagaaaaa
ggtgaaacacttcagcctgaggggcaagtgggtgtcccaggtgacccggggctcagaggc
caacctgggagaaagggcttggatggaattcctggaactccgggagtgaaaggattacca
ggacctaaaggcgaactggctctgagtggtgagaaaggggaccaaggtcctccaggggat
cctggctcccctgggtccccaggacctgcaggaccagctggaccacctggctacggaccc
caaggagaacctggtctccagggcacgcaaggagttcctggagcccccggaccacccgga
gaagccggccctaggggagagctcagtgtttcaacaccagttccaggcccaccaggacct
ccagggccccctggccatcctggcccccaaggtccacctggtatccctggatccctgggg
aaatgtggagatcctggtcttccagggcctgatggtgaaccaggaattccaggaattgga
tttcctgggcctcctggacctaagggagaccaaggttttccaggtacaaaaggatcactg
ggttgtcctggaaaaatgggagagcctgggttacctggaaagccaggcctcccaggagcc
aagggagaaccagcagtagccatgcctggaggaccaggaacaccaggttttccaggagaa
agaggcaattctggggaacatggagaaattggactccctggacttccaggtctccctgga
actccaggaaatgaagggcttgatggaccacgaggagatccagggcagcctggaccacct
ggagaacaaggacccccaggaaggtgcatagagggtcccaggggagcccaaggacttcca
ggcttaaatggattgaaagggcaacaaggcagaagaggtaaaacggggccaaagggagac
ccaggaattccaggcttggatagatcaggatttcctggagaaactggatcaccaggaatt
ccaggtcatcaaggtgaaatgggaccactgggtcaaagaggatatccaggaaatccggga
attttagggccaccaggtgaagatggagtgattgggatgatgggctttcctggagccatt
ggccctccagggccccctgggaacccaggcacaccagggcagagggggagccctggaatt
ccaggagtaaagggccagagaggaaccccaggagccaagggggaacaaggagataaagga
aatcccgggccttcagagatatcccacgtaataggggacaaaggagaaccaggtctcaaa
ggattcgcaggaaatccaggtgagaaaggaaacagaggcgttccagggatgccaggttta
aagggcctcaaaggactacccggaccagcaggaccaccaggccccagaggagatttgggc
agcactgggaatcctggagaaccaggactgcgtggtataccaggaagcatggggaacatg
ggcatgccaggttctaaaggaaaaaggggaactttgggattcccaggtcgagcaggaaga
ccaggcctcccaggtattcatggtctccagggagataagggagagccaggttattcagaa
ggtacaaggccaggaccaccgggaccaacgggggatccaggactgccgggtgatatggga
aagaaaggagaaatggggcaacctggcccacctggacatttggggcctgctggacctgag
ggagcccctggaagtcctggaagtcctggcctcccaggaaagccaggtcctcatggtgat
ttgggttttaaaggaatcaaaggcctcctgggccctccaggaatcagaggccctccaggt
cttccaggatttccaggatctcctggaccaatgggtataagaggtgaccaaggacgtgat
ggaattcctggtccagccggagaaaagggagaaacgggtttattgagggcccctccaggc
ccaagagggaaccctggtgctcaaggagccaaaggagacaggggagccccaggttttcct
ggcctcccgggcagaaaaggggccatgggagatgctggacctcgaggacccacaggcata
gaaggattcccagggccaccaggtctgcccggtgcaattatccctggccagacaggaaat
cgtggtccaccaggctcaagaggaagcccaggtgcgcctggtccccctggacctccaggg
agtcatgtaataggcataaaaggagacaaagggtctatgggccaccctggcccaaaaggt
ccacctggaactgcaggagacatgggaccaccaggtcgtctgggagcaccaggtactcca
ggtcttccaggacccagaggtgatcctggattccaggggtttccaggcgtgaaaggagaa
aagggtaatcctggatttctaggatccattggacctccaggaccaattgggccaaaagga
ccacctggtgtacgtggagaccctggcacacttaagattatctcccttccaggaagccca
gggccacctggcacacctggagaaccagggatgcagggagaacctgggccaccagggcca
cctggaaacctaggaccctgtgggccaagaggtaagccaggcaaggatggaaaaccagga
actcctggaccagctggagaaaaaggcaacaaaggttctaaaggagagccaggaccagct
ggatcagatggattgccaggtttgaaaggaaaacgtggagacagtggatcacctgcaacc
tggacaacgagaggctttgtcttcacccgacacagtcaaaccacagcaattccttcatgt
ccagaggggacagtgccactctacagtgggttttcttttctttttgtacaaggaaatcaa
cgagcccacggacaagaccttggaactcttggcagctgcctgcagcgatttaccacaatg
ccattcttattctgcaatgtcaatgatgtatgtaattttgcatctcgaaatgattattca
tactggctgtcaacaccagctctgatgccaatgaacatggctcccattactggcagagcc
cttgagccttatataagcagatgcactgtttgtgaaggtcctgcgatcgccatagccgtt
cacagccaaaccactgacattcctccatgtcctcacggctggatttctctctggaaagga
ttttcattcatcatgttcacaagtgcaggttctgagggcaccgggcaagcactggcctcc
cctggctcctgcctggaagaattccgagccagcccatttctagaatgtcatggaagagga
acgtgcaactactattcaaattcctacagtttctggctggcttcattaaacccagaaaga
atgttcagaaagcctattccatcaactgtgaaagctggggaattagaaaaaataataagt
cgctgtcaggtgtgcatgaagaaaagacactga

KEGG   Homo sapiens (human): 1286
Entry
1286              CDS       T01001                                 

Gene name
COL4A4, ATS2, BFH, CA44
Definition
(RefSeq) collagen type IV alpha 4 chain
  KO
K06237  collagen type IV alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04926  Relaxin signaling pathway
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa04974  Protein digestion and absorption
hsa05146  Amoebiasis
hsa05165  Human papillomavirus infection
hsa05200  Pathways in cancer
hsa05222  Small cell lung cancer
Disease
H00581  Alport syndrome
H00582  Benign familial hematuria
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04151 PI3K-Akt signaling pathway
    1286 (COL4A4)
  09133 Signaling molecules and interaction
   04512 ECM-receptor interaction
    1286 (COL4A4)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04510 Focal adhesion
    1286 (COL4A4)
 09150 Organismal Systems
  09152 Endocrine system
   04926 Relaxin signaling pathway
    1286 (COL4A4)
  09154 Digestive system
   04974 Protein digestion and absorption
    1286 (COL4A4)
 09160 Human Diseases
  09161 Cancer: overview
   05200 Pathways in cancer
    1286 (COL4A4)
  09162 Cancer: specific types
   05222 Small cell lung cancer
    1286 (COL4A4)
  09172 Infectious disease: viral
   05165 Human papillomavirus infection
    1286 (COL4A4)
  09174 Infectious disease: parasitic
   05146 Amoebiasis
    1286 (COL4A4)
  09167 Endocrine and metabolic disease
   04933 AGE-RAGE signaling pathway in diabetic complications
    1286 (COL4A4)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    1286 (COL4A4)
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    1286 (COL4A4)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other cancer cells
   1286 (COL4A4)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Heparin
  Extracellular matrix molecules
   1286 (COL4A4)
SSDB
Motif
Pfam: Collagen C4
Other DBs
NCBI-GeneID: 1286
NCBI-ProteinID: NP_000083
OMIM: 120131
HGNC: 2206
Ensembl: ENSG00000081052
Vega: OTTHUMG00000149892
Pharos: P53420(Tbio)
UniProt: P53420
Structure
PDB: 
5NB1

Position
2q36.3
AA seq 1690 aa
MWSLHIVLMRCSFRLTKSLATGPWSLILILFSVQYVYGSGKKYIGPCGGRDCSVCHCVPE
KGSRGPPGPPGPQGPIGPLGAPGPIGLSGEKGMRGDRGPPGAAGDKGDKGPTGVPGFPGL
DGIPGHPGPPGPRGKPGMSGHNGSRGDPGFPGGRGALGPGGPLGHPGEKGEKGNSVFILG
AVKGIQGDRGDPGLPGLPGSWGAGGPAGPTGYPGEPGLVGPPGQPGRPGLKGNPGVGVKG
QMGDPGEVGQQGSPGPTLLVEPPDFCLYKGEKGIKGIPGMVGLPGPPGRKGESGIGAKGE
KGIPGFPGPRGDPGSYGSPGFPGLKGELGLVGDPGLFGLIGPKGDPGNRGHPGPPGVLVT
PPLPLKGPPGDPGFPGRYGETGDVGPPGPPGLLGRPGEACAGMIGPPGPQGFPGLPGLPG
EAGIPGRPDSAPGKPGKPGSPGLPGAPGLQGLPGSSVIYCSVGNPGPQGIKGKVGPPGGR
GPKGEKGNEGLCACEPGPMGPPGPPGLPGRQGSKGDLGLPGWLGTKGDPGPPGAEGPPGL
PGKHGASGPPGNKGAKGDMVVSRVKGHKGERGPDGPPGFPGQPGSHGRDGHAGEKGDPGP
PGDHEDATPGGKGFPGPLGPPGKAGPVGPPGLGFPGPPGERGHPGVPGHPGVRGPDGLKG
QKGDTISCNVTYPGRHGPPGFDGPPGPKGFPGPQGAPGLSGSDGHKGRPGTPGTAEIPGP
PGFRGDMGDPGFGGEKGSSPVGPPGPPGSPGVNGQKGIPGDPAFGHLGPPGKRGLSGVPG
IKGPRGDPGCPGAEGPAGIPGFLGLKGPKGREGHAGFPGVPGPPGHSCERGAPGIPGQPG
LPGYPGSPGAPGGKGQPGDVGPPGPAGMKGLPGLPGRPGAHGPPGLPGIPGPFGDDGLPG
PPGPKGPRGLPGFPGFPGERGKPGAEGCPGAKGEPGEKGMSGLPGDRGLRGAKGAIGPPG
DEGEMAIISQKGTPGEPGPPGDDGFPGERGDKGTPGMQGRRGEPGRYGPPGFHRGEPGEK
GQPGPPGPPGPPGSTGLRGFIGFPGLPGDQGEPGSPGPPGFSGIDGARGPKGNKGDPASH
FGPPGPKGEPGSPGCPGHFGASGEQGLPGIQGPRGSPGRPGPPGSSGPPGCPGDHGMPGL
RGQPGEMGDPGPRGLQGDPGIPGPPGIKGPSGSPGLNGLHGLKGQKGTKGASGLHDVGPP
GPVGIPGLKGERGDPGSPGISPPGPRGKKGPPGPPGSSGPPGPAGATGRAPKDIPDPGPP
GDQGPPGPDGPRGAPGPPGLPGSVDLLRGEPGDCGLPGPPGPPGPPGPPGYKGFPGCDGK
DGQKGPVGFPGPQGPHGFPGPPGEKGLPGPPGRKGPTGLPGPRGEPGPPADVDDCPRIPG
LPGAPGMRGPEGAMGLPGMRGPSGPGCKGEPGLDGRRGVDGVPGSPGPPGRKGDTGEDGY
PGGPGPPGPIGDPGPKGFGPGYLGGFLLVLHSQTDQEPTCPLGMPRLWTGYSLLYLEGQE
KAHNQDLGLAGSCLPVFSTLPFAYCNIHQVCHYAQRNDRSYWLASAAPLPMMPLSEEAIR
PYVSRCAVCEAPAQAVAVHSQDQSIPPCPQTWRSLWIGYSFLMHTGAGDQGGGQALMSPG
SCLEDFRAAPFLECQGRQGTCHFFANKYSFWLTTVKADLQFSSAPAPDTLKESQAQRQKI
SRCQVCVKYS
NT seq 5073 nt   +upstreamnt  +downstreamnt
atgtggtctctgcacatagtactaatgaggtgctccttcagattgaccaagtccttggcc
acaggtccctggtcacttatactcattctcttttctgtacaatatgtatatgggagtgga
aagaaatacattggtccttgtggaggaagagattgctctgtttgccactgtgttcctgaa
aaggggtctcggggtccaccaggaccaccagggccacagggtccaattggacccctggga
gccccaggacccattgggctttcaggagagaaaggaatgagaggggaccgcggccctcct
ggagcagcaggggacaaaggagataagggtccaactggtgttcctggatttccaggttta
gatggcatacctgggcacccagggcctcctggacccagaggcaaacctggtatgagtggc
cacaatggctcaagaggtgacccagggtttccaggaggaagaggagctcttggcccagga
ggccccctaggccatcctggggaaaagggagaaaaaggaaattcagtgttcattttaggt
gccgttaaaggtattcagggagacagaggggacccaggactgcctggcttaccaggatct
tggggtgcaggaggaccggcaggtcccacaggatatcctggagagccagggttagtggga
cctccgggccaaccagggcgtccaggtttgaagggaaatcccggtgtgggagtaaagggg
caaatgggagacccgggtgaggttggtcagcaaggttctcctggacccaccctgttggta
gagccacctgacttttgtctctataaaggagaaaagggtataaaaggaattcctggaatg
gttggactgccaggaccaccaggacgcaagggagaatctggtattggggcaaaaggagaa
aaaggtattcctggatttccagggcctcggggggatcctggttcctatggatctccaggt
tttccaggattaaagggagaactaggactggttggagatcctgggctatttggattaatt
ggcccaaagggggatcctggaaatcgagggcacccaggaccaccaggtgttttggtgact
ccacctcttccactcaaaggcccaccaggggacccagggttccctggccgctatggagaa
acaggggatgttggaccacctggtcccccaggtctcttgggcagaccaggggaagcctgt
gcaggcatgataggaccccctgggccacaaggatttcctggtcttcctgggcttccagga
gaagctggtattcctgggagacctgattctgctccaggaaaaccagggaagccaggatca
cctggcttgcctggagcaccaggcctgcagggcctcccaggatcaagtgtgatatactgt
agtgttgggaaccccggaccacaaggaataaaaggcaaagttggtcccccaggaggaaga
ggcccaaaaggagaaaaaggaaatgaaggactctgtgcctgtgagcctggacccatgggc
ccccctggccctccaggacttcctgggaggcaggggagtaagggagacttggggctccct
ggctggcttggaacaaaaggtgacccaggacctcctggtgctgaaggacctccagggcta
ccaggaaagcatggtgcctctggaccacctggcaacaaaggggcgaagggtgacatggtt
gtatcaagagttaaagggcacaaaggagaaagaggtcctgatgggcccccaggatttcca
gggcagccaggatcacatggtcgggatggacatgctggagaaaaaggggatccaggacct
ccaggggatcatgaagatgcgaccccaggtggtaaaggatttcctggacctctgggcccc
ccaggcaaagcaggacctgtggggcccccaggactgggatttcctggtccaccaggagag
cgaggccacccaggagttccaggccacccaggtgtgaggggccctgatggcttgaagggt
cagaaaggtgacacaatttcttgcaacgtaacctaccctgggaggcatggccctccaggt
tttgatggacctccaggtccgaagggatttccaggtccccaaggtgcccctgggctgagt
ggttcagatgggcataaaggcagacctggcacaccaggaacagcggaaataccaggtcca
cctggttttcgtggtgacatgggagatccgggttttggaggtgaaaaggggtcctcccct
gttgggcccccaggccctcccggctcaccaggagtgaatggtcagaaaggaatcccggga
gaccctgcatttggtcacctgggacccccgggaaagaggggtctttcaggagtgccaggg
ataaaaggacccagaggtgatccgggatgtccaggggctgaagggccagctggcattcct
ggattcctaggtctcaaaggtcccaaaggcagagagggacatgctgggtttccaggtgtc
ccaggtccacctggccattcctgtgaaagaggtgctccagggataccagggcaaccggga
ctccctgggtatccaggtagcccaggtgctccaggtgggaaaggacagccgggagatgtg
gggcctcccgggccagctggaatgaaaggcctccccggactcccaggacggcctggggca
catggtcccccaggcctcccaggaatcccaggtccctttggagatgatgggctacctggt
cctccaggtccaaagggaccccgggggctgcctggtttcccaggttttcccggagaaaga
ggaaagcctggtgcagagggatgtcctggcgcaaagggagaacctggagagaagggcatg
tctggccttcctggagaccggggactgagaggggccaaaggagccataggacctcccgga
gatgaaggagaaatggctatcatttcacaaaagggaacacctggggaacctggacctcct
ggagatgatggattcccaggagaaagaggtgataaaggaactcccgggatgcaagggaga
agaggagagccgggaagatacggaccacctggatttcacagaggggaacctggtgagaaa
ggtcagccagggcctcctggacccccaggccctccaggctcaactggtctaagagggttc
attggttttccaggacttccaggtgaccagggtgagccaggttctccaggtccccctgga
ttttcaggaattgatggagcaagaggacctaaaggaaacaaaggtgaccctgccagtcac
tttggtccacctggtccaaagggtgagccaggtagccctggatgtccagggcattttgga
gcatccggagagcagggcttgcctggtattcaagggcccagaggatcacctggaaggcca
gggccacctggctcctctggaccaccagggtgcccaggtgatcacgggatgcctgggctg
aggggacagccaggagaaatgggagaccctgggccaagaggcctccagggggatccaggg
ataccaggtcctccgggaataaaaggtccctccggatcacctggcctgaacggcttgcat
ggattgaaaggtcagaaaggaactaaaggtgcttcaggtttgcatgatgtggggccacct
ggtccagtgggaatacctgggctaaaaggggagagaggagaccctgggagcccaggaatc
tctcctccaggtcctcgtggaaagaaaggtcccccaggacccccagggagttcaggacca
cctggtcctgcaggtgccacaggaagagctcctaaggacattcctgacccgggtccacct
ggagatcagggacctcctggtcctgatggcccaagaggagcacctgggcctccaggcctc
cctgggagtgttgaccttctgagaggggagccaggtgactgtggtctaccagggccacca
ggtccccctggcccaccaggccctccaggatacaaaggctttccaggatgtgatggaaaa
gatggccagaaaggaccagtgggattcccgggaccgcagggaccacatggatttcctggg
ccacctggagagaagggtttacctggacctccagggagaaaagggcccactggtcttccg
ggtcccagaggtgaaccggggccacctgcagatgtggatgactgtccccgaatcccaggc
cttcctggggcgccaggcatgagaggaccagaaggagccatggggctccctggaatgaga
ggcccctcaggaccagggtgcaaaggagagcctgggctggatggcaggaggggtgtggat
ggcgtccctgggtctcctgggcctcccggacgtaaaggtgacacaggagaagacggctac
cctggaggaccagggcctcctggtcccattggggatcctgggcccaaagggtttggccct
ggatacctcggtggcttcctcctggttctccacagtcagacggaccaggagcccacctgc
cccctgggcatgcccaggctctggactgggtatagtctgttatacctggaagggcaagag
aaagctcacaatcaagaccttggtctggcagggtcttgccttcccgtatttagcacgctg
ccctttgcctactgcaacatccaccaggtgtgccactatgcccagagaaacgacagatcc
tactggctggccagcgctgcgcccctccccatgatgccactctctgaagaggcgatccgc
ccctatgtcagccgctgtgcggtatgcgaggccccggcccaggcggtggcggtgcacagc
caggaccagtccatccccccatgtccgcagacctggaggagcctctggatcgggtattca
ttcctgatgcacacaggagctggggaccaaggaggagggcaggcccttatgtcacctggc
agctgcctggaagatttcagagcagcaccattccttgaatgccagggccggcagggaact
tgccactttttcgcaaataagtatagcttctggctcacaacggtgaaagcagacttgcag
ttttcctctgctccagcaccagacaccttaaaagaaagccaggcccaacgccagaaaatc
agccggtgccaggtctgcgtgaagtatagctag

KEGG   Homo sapiens (human): 1287
Entry
1287              CDS       T01001                                 

Gene name
COL4A5, ASLN, ATS, ATS1, CA54
Definition
(RefSeq) collagen type IV alpha 5 chain
  KO
K06237  collagen type IV alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04926  Relaxin signaling pathway
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa04974  Protein digestion and absorption
hsa05146  Amoebiasis
hsa05165  Human papillomavirus infection
hsa05200  Pathways in cancer
hsa05222  Small cell lung cancer
Disease
H00581  Alport syndrome
H01640  Uterine leiomyoma
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04151 PI3K-Akt signaling pathway
    1287 (COL4A5)
  09133 Signaling molecules and interaction
   04512 ECM-receptor interaction
    1287 (COL4A5)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04510 Focal adhesion
    1287 (COL4A5)
 09150 Organismal Systems
  09152 Endocrine system
   04926 Relaxin signaling pathway
    1287 (COL4A5)
  09154 Digestive system
   04974 Protein digestion and absorption
    1287 (COL4A5)
 09160 Human Diseases
  09161 Cancer: overview
   05200 Pathways in cancer
    1287 (COL4A5)
  09162 Cancer: specific types
   05222 Small cell lung cancer
    1287 (COL4A5)
  09172 Infectious disease: viral
   05165 Human papillomavirus infection
    1287 (COL4A5)
  09174 Infectious disease: parasitic
   05146 Amoebiasis
    1287 (COL4A5)
  09167 Endocrine and metabolic disease
   04933 AGE-RAGE signaling pathway in diabetic complications
    1287 (COL4A5)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    1287 (COL4A5)
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    1287 (COL4A5)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other cancer cells
   1287 (COL4A5)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Heparin
  Extracellular matrix molecules
   1287 (COL4A5)
SSDB
Motif
Pfam: Collagen C4
Other DBs
NCBI-GeneID: 1287
NCBI-ProteinID: NP_000486
OMIM: 303630
HGNC: 2207
Ensembl: ENSG00000188153
Vega: OTTHUMG00000022182
Pharos: P29400(Tbio)
UniProt: P29400 Q49AM6 A7MBN3
Structure
PDB: 
5NAZ

Position
Xq22.3
AA seq 1685 aa
MKLRGVSLAAGLFLLALSLWGQPAEAAACYGCSPGSKCDCSGIKGEKGERGFPGLEGHPG
LPGFPGPEGPPGPRGQKGDDGIPGPPGPKGIRGPPGLPGFPGTPGLPGMPGHDGAPGPQG
IPGCNGTKGERGFPGSPGFPGLQGPPGPPGIPGMKGEPGSIIMSSLPGPKGNPGYPGPPG
IQGLPGPTGIPGPIGPPGPPGLMGPPGPPGLPGPKGNMGLNFQGPKGEKGEQGLQGPPGP
PGQISEQKRPIDVEFQKGDQGLPGDRGPPGPPGIRGPPGPPGGEKGEKGEQGEPGKRGKP
GKDGENGQPGIPGLPGDPGYPGEPGRDGEKGQKGDTGPPGPPGLVIPRPGTGITIGEKGN
IGLPGLPGEKGERGFPGIQGPPGLPGPPGAAVMGPPGPPGFPGERGQKGDEGPPGISIPG
PPGLDGQPGAPGLPGPPGPAGPHIPPSDEICEPGPPGPPGSPGDKGLQGEQGVKGDKGDT
CFNCIGTGISGPPGQPGLPGLPGPPGSLGFPGQKGEKGQAGATGPKGLPGIPGAPGAPGF
PGSKGEPGDILTFPGMKGDKGELGSPGAPGLPGLPGTPGQDGLPGLPGPKGEPGGITFKG
ERGPPGNPGLPGLPGNIGPMGPPGFGPPGPVGEKGIQGVAGNPGQPGIPGPKGDPGQTIT
QPGKPGLPGNPGRDGDVGLPGDPGLPGQPGLPGIPGSKGEPGIPGIGLPGPPGPKGFPGI
PGPPGAPGTPGRIGLEGPPGPPGFPGPKGEPGFALPGPPGPPGLPGFKGALGPKGDRGFP
GPPGPPGRTGLDGLPGPKGDVGPNGQPGPMGPPGLPGIGVQGPPGPPGIPGPIGQPGLHG
IPGEKGDPGPPGLDVPGPPGERGSPGIPGAPGPIGPPGSPGLPGKAGASGFPGTKGEMGM
MGPPGPPGPLGIPGRSGVPGLKGDDGLQGQPGLPGPTGEKGSKGEPGLPGPPGPMDPNLL
GSKGEKGEPGLPGIPGVSGPKGYQGLPGDPGQPGLSGQPGLPGPPGPKGNPGLPGQPGLI
GPPGLKGTIGDMGFPGPQGVEGPPGPSGVPGQPGSPGLPGQKGDKGDPGISSIGLPGLPG
PKGEPGLPGYPGNPGIKGSVGDPGLPGLPGTPGAKGQPGLPGFPGTPGPPGPKGISGPPG
NPGLPGEPGPVGGGGHPGQPGPPGEKGKPGQDGIPGPAGQKGEPGQPGFGNPGPPGLPGL
SGQKGDGGLPGIPGNPGLPGPKGEPGFHGFPGVQGPPGPPGSPGPALEGPKGNPGPQGPP
GRPGLPGPEGPPGLPGNGGIKGEKGNPGQPGLPGLPGLKGDQGPPGLQGNPGRPGLNGMK
GDPGLPGVPGFPGMKGPSGVPGSAGPEGEPGLIGPPGPPGLPGPSGQSIIIKGDAGPPGI
PGQPGLKGLPGPQGPQGLPGPTGPPGDPGRNGLPGFDGAGGRKGDPGLPGQPGTRGLDGP
PGPDGLQGPPGPPGTSSVAHGFLITRHSQTTDAPQCPQGTLQVYEGFSLLYVQGNKRAHG
QDLGTAGSCLRRFSTMPFMFCNINNVCNFASRNDYSYWLSTPEPMPMSMQPLKGQSIQPF
ISRCAVCEAPAVVIAVHSQTIQIPHCPQGWDSLWIGYSFMMHTSAGAEGSGQALASPGSC
LEEFRSAPFIECHGRGTCNYYANSYSFWLATVDVSDMFSKPQSETLKAGDLRTRISRCQV
CMKRT
NT seq 5058 nt   +upstreamnt  +downstreamnt
atgaaactgcgtggagtcagcctggctgccggcttgttcttactggccctgagtctttgg
gggcagcctgcagaggctgcggcttgctatgggtgttctccaggatcaaagtgtgactgc
agtggcataaaaggggaaaagggagagagagggtttccaggtttggaaggacacccagga
ttgcctggatttccaggtccagaagggcctccggggcctcggggacaaaagggtgatgat
ggaattccagggccaccaggaccaaaaggaatcagaggtcctcctggacttcctggattt
ccagggacaccaggtcttcctggaatgccaggccacgatggggccccaggacctcaaggt
attcccggatgcaatggaaccaagggagaacgtggatttccaggcagtcccggttttcct
ggtttacagggtcctccaggaccccctgggatcccaggtatgaagggtgaaccaggtagt
ataattatgtcatcactgccaggaccaaagggtaatccaggatatccaggtcctcctgga
atacaaggcctacctggtcccactggtataccagggccaattggtcccccaggaccacca
ggtttgatgggccctcctggtccaccaggacttccaggacctaaggggaatatgggctta
aatttccagggacccaaaggtgaaaaaggtgagcaaggtcttcagggcccacctgggcca
cctgggcagatcagtgaacagaaaagaccaattgatgtagagtttcagaaaggagatcag
ggacttcctggtgaccgagggcctcctggacctccagggatacgtggtcctccaggtccc
ccaggtggtgagaaaggtgagaagggtgagcaaggagagccaggcaaaagaggtaaacca
ggcaaagatggagaaaatggccaaccaggaattcctggtttgcctggtgatcctggttac
cctggtgaacccggaagggatggtgaaaagggccaaaaaggtgacactggcccacctgga
cctcctggacttgtaattcctagacctgggactggtataactataggagaaaaaggaaac
attgggttgcctgggttgcctggagaaaaaggagagcgaggatttcctggaatacagggt
ccacctggccttcctggacctccaggggctgcagttatgggtcctcctggccctcctgga
tttcctggagaaaggggtcagaaaggtgatgaaggaccacctggaatttccattcctgga
cctcctggacttgacggacagcctggggctcctgggcttccagggcctcctggccctgct
ggccctcacattcctcctagtgatgagatatgtgaaccaggccctccaggccccccagga
tctccaggtgataaaggactccaaggagaacaaggagtgaaaggtgacaaaggtgacact
tgcttcaactgcattggaactggtatttcagggcctccaggtcaacctggtttgccaggt
ctcccaggtcctccaggatctcttggtttccctggacagaaaggggaaaaaggacaagct
ggtgcaactggtcccaaaggattaccaggcattccaggagctccaggtgctccaggcttt
cctggatctaaaggtgaacctggtgatatcctcacttttccaggaatgaagggtgacaaa
ggagagttgggttcccctggagctccagggcttcctggtttacctggcactcctggacag
gatggattgccagggcttcctggcccgaaaggagagcctggtggaattacttttaagggt
gaaagaggtccccctgggaacccaggtttaccaggcctcccagggaatatagggcctatg
ggtccccctggtttcggccctccaggcccagtaggtgaaaaaggcatacaaggtgtggca
ggaaatccaggccagccaggaataccaggtcctaaaggggatccaggtcagactataacc
cagccggggaagcctggcttgcctggtaacccaggcagagatggtgatgtaggtcttcca
ggtgaccctggacttccagggcaaccaggcttgccagggatacctggtagcaaaggagaa
ccaggtatccctggaattgggcttcctggaccacctggtcccaaaggctttcctggaatt
ccaggacctccaggagcacctgggacacctggaagaattggtctagaaggccctcctggg
ccacccggctttccaggaccaaagggtgaaccaggatttgcattacctgggccacctggg
ccaccaggacttccaggtttcaaaggagcacttggtccaaaaggtgatcgtggtttccca
ggacctccgggtcctccaggacgcactggcttagatgggctccctggaccaaaaggtgat
gttggaccaaatggacaacctggaccaatgggacctcctgggctgccaggaataggtgtt
cagggaccaccaggaccaccagggattcctgggccaataggtcaacctggtttacatgga
ataccaggagagaagggggatccaggacctcctggacttgatgttccaggacccccaggt
gaaagaggcagtccagggatccccggagcacctggtcctataggacctccaggatcacca
gggcttccaggaaaagcaggtgcctctggatttccaggtaccaaaggtgaaatgggtatg
atgggacctccaggcccaccaggacctttgggaattcctggcaggagtggtgtacctggt
cttaaaggtgatgatggcttgcagggtcagccaggacttcctggccctacaggagaaaaa
ggtagtaaaggagagcctggccttccaggccctcctggaccaatggatccaaatcttctg
ggctcaaaaggagagaagggggaacctggcttaccaggtatacctggagtttcagggcca
aaaggttatcagggtttgcctggagacccagggcaacctggactgagtggacaacctgga
ttaccaggaccaccaggtcccaaaggtaaccctggtctccctggacagccaggtcttata
ggacctcctggacttaaaggaaccatcggtgatatgggttttccagggcctcagggtgtg
gaagggcctcctggaccttctggagttcctggacaacctggctccccaggattacctgga
cagaaaggcgacaaaggtgatcctggtatttcaagcattggtcttccaggtcttcctggt
ccaaagggtgagcctggtctgcctggatacccagggaaccctggtatcaaaggttctgtg
ggagatcctggtttgcccggattaccaggaacccctggagcaaaaggacaaccaggcctt
cctggattcccaggaaccccaggccctcctggaccaaaaggtattagtggccctcctggg
aaccccggccttccaggagaacctggtcctgtaggtggtggaggtcatcctgggcaacca
gggcctccaggcgaaaaaggcaaacccggtcaagatggtattcctggaccagctggacag
aagggtgaaccaggtcaaccaggctttggaaacccaggaccccctggacttccaggactt
tctggccaaaagggtgatggaggattacctgggattccaggaaatcctggccttccaggt
ccaaagggcgaaccaggctttcacggtttccctggtgtgcagggtcccccaggccctcct
ggttctccgggtccagctctggaaggacctaaaggcaaccctgggccccaaggtcctcct
gggagaccaggtctaccaggtccagaaggtcctccaggtctccctggaaatggaggtatt
aaaggagagaagggaaatccaggccaacctgggctacctggcttgcctggtttgaaagga
gatcaaggaccaccaggactccagggtaatcctggccggccgggtctcaatggaatgaaa
ggagatcctggtctccctggtgttccaggattcccaggcatgaaaggacccagtggagta
cctggatcagctggccctgagggggaaccgggacttattggtcctccaggtcctcctgga
ttacctggtccttcaggacagagtatcataattaaaggagatgctggtcctccaggaatc
cctggccagcctgggctaaagggtctaccaggaccccaaggacctcaaggcttaccaggt
ccaactggccctccaggagatcctggacgcaatggactccctggctttgatggtgcagga
gggcgcaaaggagacccaggtctgccaggacagccaggtacccgtggtttggatggtccc
cctggtccagatggattgcaaggtcccccaggtccccctggaacctcctctgttgcacat
ggatttcttattacacgccacagccagacaacggatgcaccacaatgcccacagggaaca
cttcaggtctatgaaggcttttctctcctgtatgtacaaggaaataaaagagcccacggt
caagacttggggacggctggcagctgccttcgtcgctttagtaccatgcctttcatgttc
tgcaacatcaataatgtttgcaactttgcttcaagaaatgactattcttactggctctct
accccagagcccatgccaatgagcatgcaacccctaaagggccagagcatccagccattc
attagtcgatgtgcagtatgtgaagctccagctgtggtgatcgcagttcacagtcagacg
atccagattccccattgtcctcagggatgggattctctgtggattggttattccttcatg
atgcatacaagtgcaggggcagaaggctcaggtcaagccctagcctcccctggttcctgc
ttggaagagtttcgttcagctcccttcatcgaatgtcatgggaggggtacctgtaactac
tatgccaactcctacagcttttggctggcaactgtagatgtgtcagacatgttcagtaaa
cctcagtcagaaacgctgaaagcaggagacttgaggacacgaattagccgatgtcaagtg
tgcatgaagaggacataa

KEGG   Homo sapiens (human): 1288
Entry
1288              CDS       T01001                                 

Gene name
COL4A6, CXDELq22.3, DELXq22.3, DFNX6
Definition
(RefSeq) collagen type IV alpha 6 chain
  KO
K06237  collagen type IV alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04926  Relaxin signaling pathway
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa04974  Protein digestion and absorption
hsa05146  Amoebiasis
hsa05165  Human papillomavirus infection
hsa05200  Pathways in cancer
hsa05222  Small cell lung cancer
Disease
H01209  Deafness, X-linked
H01640  Uterine leiomyoma
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04151 PI3K-Akt signaling pathway
    1288 (COL4A6)
  09133 Signaling molecules and interaction
   04512 ECM-receptor interaction
    1288 (COL4A6)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04510 Focal adhesion
    1288 (COL4A6)
 09150 Organismal Systems
  09152 Endocrine system
   04926 Relaxin signaling pathway
    1288 (COL4A6)
  09154 Digestive system
   04974 Protein digestion and absorption
    1288 (COL4A6)
 09160 Human Diseases
  09161 Cancer: overview
   05200 Pathways in cancer
    1288 (COL4A6)
  09162 Cancer: specific types
   05222 Small cell lung cancer
    1288 (COL4A6)
  09172 Infectious disease: viral
   05165 Human papillomavirus infection
    1288 (COL4A6)
  09174 Infectious disease: parasitic
   05146 Amoebiasis
    1288 (COL4A6)
  09167 Endocrine and metabolic disease
   04933 AGE-RAGE signaling pathway in diabetic complications
    1288 (COL4A6)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    1288 (COL4A6)
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    1288 (COL4A6)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other cancer cells
   1288 (COL4A6)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Heparin
  Extracellular matrix molecules
   1288 (COL4A6)
SSDB
Motif
Pfam: Collagen C4
Other DBs
NCBI-GeneID: 1288
NCBI-ProteinID: NP_001838
OMIM: 303631
HGNC: 2208
Ensembl: ENSG00000197565
Vega: OTTHUMG00000022179
Pharos: Q14031(Tbio)
UniProt: Q14031
Position
Xq22.3
AA seq 1691 aa
MLINKLWLLLVTLCLTEELAAAGEKSYGKPCGGQDCSGSCQCFPEKGARGRPGPIGIQGP
TGPQGFTGSTGLSGLKGERGFPGLLGPYGPKGDKGPMGVPGFLGINGIPGHPGQPGPRGP
PGLDGCNGTQGAVGFPGPDGYPGLLGPPGLPGQKGSKGDPVLAPGSFKGMKGDPGLPGLD
GITGPQGAPGFPGAVGPAGPPGLQGPPGPPGPLGPDGNMGLGFQGEKGVKGDVGLPGPAG
PPPSTGELEFMGFPKGKKGSKGEPGPKGFPGISGPPGFPGLGTTGEKGEKGEKGIPGLPG
PRGPMGSEGVQGPPGQQGKKGTLGFPGLNGFQGIEGQKGDIGLPGPDVFIDIDGAVISGN
PGDPGVPGLPGLKGDEGIQGLRGPSGVPGLPALSGVPGALGPQGFPGLKGDQGNPGRTTI
GAAGLPGRDGLPGPPGPPGPPSPEFETETLHNKESGFPGLRGEQGPKGNLGLKGIKGDSG
FCACDGGVPNTGPPGEPGPPGPWGLIGLPGLKGARGDRGSGGAQGPAGAPGLVGPLGPSG
PKGKKGEPILSTIQGMPGDRGDSGSQGFRGVIGEPGKDGVPGLPGLPGLPGDGGQGFPGE
KGLPGLPGEKGHPGPPGLPGNGLPGLPGPRGLPGDKGKDGLPGQQGLPGSKGITLPCIIP
GSYGPSGFPGTPGFPGPKGSRGLPGTPGQPGSSGSKGEPGSPGLVHLPELPGFPGPRGEK
GLPGFPGLPGKDGLPGMIGSPGLPGSKGATGDIFGAENGAPGEQGLQGLTGHKGFLGDSG
LPGLKGVHGKPGLLGPKGERGSPGTPGQVGQPGTPGSSGPYGIKGKSGLPGAPGFPGISG
HPGKKGTRGKKGPPGSIVKKGLPGLKGLPGNPGLVGLKGSPGSPGVAGLPALSGPKGEKG
SVGFVGFPGIPGLPGIPGTRGLKGIPGSTGKMGPSGRAGTPGEKGDRGNPGPVGIPSPRR
PMSNLWLKGDKGSQGSAGSNGFPGPRGDKGEAGRPGPPGLPGAPGLPGIIKGVSGKPGPP
GFMGIRGLPGLKGSSGITGFPGMPGESGSQGIRGSPGLPGASGLPGLKGDNGQTVEISGS
PGPKGQPGESGFKGTKGRDGLIGNIGFPGNKGEDGKVGVSGDVGLPGAPGFPGVAGMRGE
PGLPGSSGHQGAIGPLGSPGLIGPKGFPGFPGLHGLNGLPGTKGTHGTPGPSITGVPGPA
GLPGPKGEKGYPGIGIGAPGKPGLRGQKGDRGFPGLQGPAGLPGAPGISLPSLIAGQPGD
PGRPGLDGERGRPGPAGPPGPPGPSSNQGDTGDPGFPGIPGPKGPKGDQGIPGFSGLPGE
LGLKGMRGEPGFMGTPGKVGPPGDPGFPGMKGKAGPRGSSGLQGDPGQTPTAEAVQVPPG
PLGLPGIDGIPGLTGDPGAQGPVGLQGSKGLPGIPGKDGPSGLPGPPGALGDPGLPGLQG
PPGFEGAPGQQGPFGMPGMPGQSMRVGYTLVKHSQSEQVPPCPIGMSQLWVGYSLLFVEG
QEKAHNQDLGFAGSCLPRFSTMPFIYCNINEVCHYARRNDKSYWLSTTAPIPMMPVSQTQ
IPQYISRCSVCEAPSQAIAVHSQDITIPQCPLGWRSLWIGYSFLMHTAAGAEGGGQSLVS
PGSCLEDFRATPFIECSGARGTCHYFANKYSFWLTTVEERQQFGELPVSETLKAGQLHTR
VSRCQVCMKSL
NT seq 5076 nt   +upstreamnt  +downstreamnt
atgcttataaacaagttgtggctgctcctggttacgttgtgcctgaccgaggaactggca
gcagcgggagagaagtcttatggaaagccatgtgggggccaggactgcagtgggagctgt
cagtgttttcctgagaaaggagcgagaggacgacctggaccaattggaattcaaggccca
acaggtcctcaaggattcactggctctactggtttatcgggattgaaaggagaaaggggt
ttcccaggccttctgggaccttatggaccaaaaggagataagggtcccatgggagttcct
ggctttcttggcatcaatgggattccgggccaccctggacaaccaggccccagaggccca
cctggtctggatggctgtaatggaactcaaggagctgttggatttccaggccctgatggc
tatcctgggcttctcggaccacccgggcttcctggtcagaaaggatcaaaaggtgaccct
gtccttgctccaggtagtttcaaaggaatgaagggggatcctgggctgcctggactggat
ggaatcactggcccacaaggagcacccggatttcctggagctgtaggacctgcaggacca
ccaggattacaaggtcctccagggcctcctggtcctcttggtcctgatgggaatatgggg
ctaggttttcaaggagagaaaggagtcaagggggatgttggcctccctggcccagcagga
cctccaccatctactggagagctggaattcatgggattccccaaagggaagaaaggatcc
aagggtgaaccagggcctaagggttttccaggcataagtggccctccaggcttcccgggc
cttggaactactggagaaaagggagaaaagggagaaaagggaatccctggtttgccagga
cctaggggtcccatgggttcagaaggagtccaaggccctccagggcaacagggcaagaaa
gggaccctgggatttcctgggcttaatggattccaaggaattgagggtcaaaagggtgac
attggcctgccaggcccagatgttttcatcgatatagatggtgctgtgatctcaggtaat
cctggagatcctggtgtacctggcctcccaggccttaaaggagatgaaggcatccaaggc
ctacgtggcccttctggtgtccctggattgccagcattatcaggtgtcccaggagcccta
gggcctcagggatttccagggctgaagggggaccaaggaaacccaggccgtaccacaatt
ggagcagctggcctccctggcagagatggtttgccaggcccaccaggtccaccaggccca
cctagtccagaatttgagactgaaactctacacaacaaagagtcagggttccctggtctc
cgaggagaacaaggtccaaaaggaaacctaggcctcaaaggaataaaaggagactcaggt
ttctgtgcttgtgacggtggtgttcccaacactggaccacccggggaaccaggcccacct
ggtccatggggtctcataggccttccaggccttaaaggagccagaggagatcgaggctct
gggggtgcacagggcccagcaggggctccaggcttagttgggcctctgggtccttcagga
cccaaaggaaagaagggggaaccaattctcagtacaatccaaggaatgccaggagatcgg
ggtgattctggctcccagggcttccgtggtgtaataggagaaccaggcaaggacggagta
ccaggtttaccaggtctgccaggccttccgggtgatggtggacagggcttcccaggtgaa
aaggggttacctggacttcctggtgaaaaaggccatcctggtccacctggcctcccagga
aatgggttaccaggacttcctggaccccgtgggcttcctggagataaaggcaaggatgga
ttaccgggacaacaaggccttcccggatctaagggaatcaccctgccctgtattattcct
gggtcatacggtccatcaggatttccaggcactcccggattcccaggccctaaagggtct
cgaggcctccctgggaccccaggccagcctgggtcaagtggaagtaaaggagagccaggg
agtccaggattggttcatcttcctgaattaccaggatttcctggacctcgtggggagaag
ggcttgcctgggtttcctgggctccctggaaaagatggcttgcctgggatgattggcagt
ccaggcttacctggttccaagggagccactggtgacatctttggtgctgaaaatggtgct
ccgggggaacaaggcctacaaggattaacagggcacaaaggatttcttggagactctggc
cttccaggactcaagggtgtgcacgggaagcctggcttactaggccccaaaggtgagcgg
ggcagccctgggacaccaggacaggtgggacagccaggcaccccaggatctagtggtcca
tatggcatcaagggcaaatctgggctcccaggagcaccaggcttcccaggcatctcagga
catcctggaaagaaaggaacaagaggcaagaaaggtcctcctggatcaattgtaaagaaa
gggctgccagggctaaaaggccttcctggaaatccaggcctagtaggactgaaaggaagc
ccaggctctccaggggtcgctgggttgccagccctctctggacccaagggagagaagggg
tctgttggattcgtaggttttccaggaataccaggtctgcctggtattcctggaacaaga
ggattaaaaggaattccaggatcaactggaaaaatgggaccatctggacgtgctggtact
cctggtgaaaagggagacagaggcaatccggggccagtcggaatacctagtccaagacgt
ccaatgtcaaacctttggctcaaaggagacaaaggctctcaaggctcagccggatccaat
ggatttcctgggccaagaggtgacaaaggagaggctggtcgacctggaccaccaggccta
cctggagctcctggcctcccaggcattatcaaaggagttagtggaaagccagggccccct
ggcttcatgggaatccggggcttacctggcctgaaggggtcctctgggatcacaggtttc
ccaggaatgccaggagaaagtggttcacaaggtatcagagggtcgcctggactcccagga
gcatctggtctcccaggcctgaaaggagacaacggccagacagttgaaatttccggtagc
ccaggacccaagggacagcctggcgaatctggttttaaaggcacaaaaggaagagatgga
ctaataggcaatataggcttccctggaaacaaaggtgaagatggaaaagttggtgtttct
ggagatgttggccttcctggagctccaggatttccaggagttgccggcatgagaggagaa
ccaggacttccaggttcttctggtcaccaaggggcaattgggcctctaggatcccccgga
ttaataggacccaaaggcttccctggatttcctggtttacatggactgaatgggcttccg
ggcaccaagggtacccatggcactccaggacctagtatcaccggtgtgcctgggcctgct
ggtctccctggacccaaaggagaaaaaggatatccaggaattggcatcggagctccaggg
aagccgggcctgagagggcaaaaaggtgatcgaggtttcccaggtctccagggccctgct
ggtctccccggtgccccaggcatctccttgccctcactcatagcaggacagcctggtgac
cccgggcgaccaggcctagatggagaacgaggccgcccaggccccgctggacccccaggt
ccccctgggccatcctcgaatcaaggcgacaccggagaccctggcttccctggaattcct
ggacctaaagggcctaagggagaccaaggaattccaggtttttctggcctccctggagag
ctaggactgaaaggcatgagaggtgagcctggcttcatggggactccaggcaaggttggg
ccacctggagacccaggatttcccggaatgaaggggaaggcagggccaagaggctcttct
ggcctccaaggtgatcctggacaaacaccaactgcagaagctgtccaggttcctcctgga
cccttgggtctaccagggatcgatggcatccctggcctcactggggaccctggggctcaa
ggccctgtaggcctacaaggctccaaaggtttacctggcatccccggtaaagatggcccc
agtgggctcccaggcccacctggggctcttggtgatcctggtctgcctggactgcaaggc
cctccaggatttgaaggagctccagggcagcaaggccccttcgggatgcctggaatgcct
ggccagagcatgagagtgggctacacgttggtaaagcacagccagtcggaacaggtgccc
ccgtgtcccatcgggatgagccagctgtgggtggggtacagcttactgtttgtggagggg
caagagaaagcccacaaccaggacctgggctttgctggctcctgtctgccccgcttcagc
accatgcccttcatctactgcaacatcaacgaggtgtgccactatgccaggcgcaatgat
aaatcttactggctctccactaccgcccctatccccatgatgcccgtcagccagacccag
attccccagtacatcagccgctgctctgtgtgtgaggcaccctcgcaagccattgctgtg
cacagccaggacatcaccatcccgcagtgccccctgggctggcgcagcctctggattggg
tactctttcctcatgcacactgccgctggtgccgagggtggaggccagtccctggtctca
cctggctcctgcctagaggactttcgggccactcctttcatcgaatgcagtggtgcccga
ggcacctgccactactttgcaaacaagtacagtttctggttgaccacagtggaggagagg
cagcagtttggggagttgcctgtgtctgaaacgctgaaagctgggcagctccacactcga
gtcagtcgctgccaggtgtgtatgaaaagcctgtag

KEGG   Homo sapiens (human): 1289
Entry
1289              CDS       T01001                                 

Gene name
COL5A1, EDSC, EDSCL1
Definition
(RefSeq) collagen type V alpha 1 chain
  KO
K19721  collagen type V/XI/XXIV/XXVII, alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04974  Protein digestion and absorption
Disease
H00802  Ehlers-Danlos syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    1289 (COL5A1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    1289 (COL5A1)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Heparin
  Extracellular matrix molecules
   1289 (COL5A1)
SSDB
Motif
Pfam: Collagen COLFI Laminin_G_2 Laminin_G_1 Laminin_G_3
Other DBs
NCBI-GeneID: 1289
NCBI-ProteinID: NP_000084
OMIM: 120215
HGNC: 2209
Ensembl: ENSG00000130635
Vega: OTTHUMG00000020891
Pharos: P20908(Tbio)
UniProt: P20908 A0A024R8E5 B2ZZ86 Q59EE7
Position
9q34.3
AA seq 1838 aa
MDVHTRWKARSALRPGAPLLPPLLLLLLWAPPPSRAAQPADLLKVLDFHNLPDGITKTTG
FCATRRSSKGPDVAYRVTKDAQLSAPTKQLYPASAFPEDFSILTTVKAKKGSQAFLVSIY
NEQGIQQIGLELGRSPVFLYEDHTGKPGPEDYPLFRGINLSDGKWHRIALSVHKKNVTLI
LDCKKKTTKFLDRSDHPMIDINGIIVFGTRILDEEVFEGDIQQLLFVSDHRAAYDYCEHY
SPDCDTAVPDTPQSQDPNPDEYYTEGDGEGETYYYEYPYYEDPEDLGKEPTPSKKPVEAA
KETTEVPEELTPTPTEAAPMPETSEGAGKEEDVGIGDYDYVPSEDYYTPSPYDDLTYGEG
EENPDQPTDPGAGAEIPTSTADTSNSSNPAPPPGEGADDLEGEFTEETIRNLDENYYDPY
YDPTSSPSEIGPGMPANQDTIYEGIGGPRGEKGQKGEPAIIEPGMLIEGPPGPEGPAGLP
GPPGTMGPTGQVGDPGERGPPGRPGLPGADGLPGPPGTMLMLPFRFGGGGDAGSKGPMVS
AQESQAQAILQQARLALRGPAGPMGLTGRPGPVGPPGSGGLKGEPGDVGPQGPRGVQGPP
GPAGKPGRRGRAGSDGARGMPGQTGPKGDRGFDGLAGLPGEKGHRGDPGPSGPPGPPGDD
GERGDDGEVGPRGLPGEPGPRGLLGPKGPPGPPGPPGVTGMDGQPGPKGNVGPQGEPGPP
GQQGNPGAQGLPGPQGAIGPPGEKGPLGKPGLPGMPGADGPPGHPGKEGPPGEKGGQGPP
GPQGPIGYPGPRGVKGADGIRGLKGTKGEKGEDGFPGFKGDMGIKGDRGEIGPPGPRGED
GPEGPKGRGGPNGDPGPLGPPGEKGKLGVPGLPGYPGRQGPKGSIGFPGFPGANGEKGGR
GTPGKPGPRGQRGPTGPRGERGPRGITGKPGPKGNSGGDGPAGPPGERGPNGPQGPTGFP
GPKGPPGPPGKDGLPGHPGQRGETGFQGKTGPPGPPGVVGPQGPTGETGPMGERGHPGPP
GPPGEQGLPGLAGKEGTKGDPGPAGLPGKDGPPGLRGFPGDRGLPGPVGALGLKGNEGPP
GPPGPAGSPGERGPAGAAGPIGIPGRPGPQGPPGPAGEKGAPGEKGPQGPAGRDGLQGPV
GLPGPAGPVGPPGEDGDKGEIGEPGQKGSKGDKGEQGPPGPTGPQGPIGQPGPSGADGEP
GPRGQQGLFGQKGDEGPRGFPGPPGPVGLQGLPGPPGEKGETGDVGQMGPPGPPGPRGPS
GAPGADGPQGPPGGIGNPGAVGEKGEPGEAGEPGLPGEGGPPGPKGERGEKGESGPSGAA
GPPGPKGPPGDDGPKGSPGPVGFPGDPGPPGEPGPAGQDGPPGDKGDDGEPGQTGSPGPT
GEPGPSGPPGKRGPPGPAGPEGRQGEKGAKGEAGLEGPPGKTGPIGPQGAPGKPGPDGLR
GIPGPVGEQGLPGSPGPDGPPGPMGPPGLPGLKGDSGPKGEKGHPGLIGLIGPPGEQGEK
GDRGLPGPQGSSGPKGEQGITGPSGPIGPPGPPGLPGPPGPKGAKGSSGPTGPKGEAGHP
GPPGPPGPPGEVIQPLPIQASRTRRNIDASQLLDDGNGENYVDYADGMEEIFGSLNSLKL
EIEQMKRPLGTQQNPARTCKDLQLCHPDFPDGEYWVDPNQGCSRDSFKVYCNFTAGGSTC
VFPDKKSEGARITSWPKENPGSWFSEFKRGKLLSYVDAEGNPVGVVQMTFLRLLSASAHQ
NVTYHCYQSVAWQDAATGSYDKALRFLGSNDEEMSYDNNPYIRALVDGCATKKGYQKTVL
EIDTPKVEQVPIVDIMFNDFGEASQKFGFEVGPACFMG
NT seq 5517 nt   +upstreamnt  +downstreamnt
atggacgtccatacccgctggaaagcgcgcagcgcgctccgcccgggcgccccgctgctg
cccccgctgctgctgctgctgctgtgggcgccgcctccgagccgcgcagctcagccagca
gatctcctgaaggttctagattttcacaacttgcctgatggaataacaaagacaacaggc
ttttgcgccacgcggcgatcttccaaaggcccggatgtcgcttacagagtcaccaaagac
gcgcagctcagcgcacccaccaagcagctgtaccctgcgtctgcatttcccgaggacttc
tccatcctaacaactgtgaaagccaagaaaggcagccaggccttcctggtctccatctac
aacgagcagggtatccagcagattgggctggagctgggccgctctcccgtcttcctctac
gaggaccacacggggaagcctggcccggaagactaccccctcttccggggcatcaacctg
tcagatggcaagtggcacagaattgctctcagcgtccacaagaaaaatgtcaccttgatc
ctcgactgtaaaaagaagaccaccaaattcctcgaccgcagcgaccaccccatgatcgac
atcaatggcatcatcgtgtttggcacccggatcctggatgaggaggtgtttgagggtgac
atccagcagctgctctttgtctcggaccaccgggcagcttatgattactgtgagcactac
agccctgactgtgacaccgcagtacctgacaccccacagtcgcaggaccccaatccagat
gaatattacacggaaggagacggcgagggtgagacctattactacgaatacccctactac
gaagaccccgaagacctagggaaggagcccacccccagcaagaagcccgtggaagctgcc
aaagaaaccacagaggtccccgaggagctgaccccgacccccacggaagctgctcccatg
cctgaaaccagtgaaggggctgggaaggaagaggacgtcggcatcggggactatgactac
gtgcccagtgaggactactacacgccctcaccgtatgatgacctcacctatggcgagggg
gaggagaaccccgaccagcccacagacccaggcgctggggccgaaattcccaccagcacc
gccgacacctccaactcctccaatccagctccgcctccaggggaaggtgcggatgacttg
gagggggagttcactgaggaaacgatccggaaccttgacgagaactactacgacccctac
tacgaccccaccagctccccgtcggagatcgggccgggaatgccggcgaaccaggatacc
atctatgaagggattggaggacctcggggcgagaaaggccaaaagggagaaccagcgatt
atcgagccgggcatgctcatcgagggcccgcctggcccagaaggccccgcgggtcttccc
ggacctccaggaaccatgggtcccactggccaagtcggggaccctggagaaaggggcccc
cctggacgcccaggccttcctggggccgatggcctgcccggtcctccaggaaccatgctc
atgctgcccttccggtttggaggtggcggcgatgcgggctccaaaggccccatggtctca
gcccaggagtcccaggcgcaagccattctccagcaggccaggttggcactgaggggacca
gctggcccgatgggtctcacagggagacctggccctgtgggtccccctgggagcggaggt
ttgaagggcgagccgggagacgtggggcctcagggtcctcgaggtgtgcaaggcccgcct
ggtccggccgggaagcccggaagacggggtcgggctgggagtgatggagccagaggaatg
cctggacaaactggccccaagggtgaccggggtttcgacggcctggctgggttgccaggc
gagaagggccacaggggtgaccctggtccttccggcccaccaggacctccgggagacgat
ggagaaaggggtgacgacggagaagttgggcccagggggctgcctggggagcccgggcca
cgtggtctgcttgggccgaaggggcccccaggtcctcccggacctcccggtgtcacgggt
atggacggccagccggggccaaaaggaaatgtgggtccccagggagagcctggcccccca
ggacagcagggtaatccaggcgcccagggtcttccaggcccccagggtgcaattggtcct
ccaggagaaaagggtcccttggggaaaccaggccttccaggaatgcccggtgctgacgga
cccccgggacaccctggcaaagaaggccctccaggagagaaaggaggtcagggtccacct
ggcccccagggtccgattggctacccaggtcctcgaggagtcaagggggccgatggcatc
cgtggtctgaagggcacaaagggcgagaagggtgaagacggctttcctgggtttaaagga
gacatgggcatcaagggtgatcggggggagatcggcccacccggtcccaggggagaagat
ggccctgaaggcccaaagggtcgcggaggtcccaatggtgaccccggtcctctgggaccc
cctggggagaagggaaaactcggagtcccagggttaccagggtatccaggaagacaagga
ccaaagggctctattggattccctggatttcctggcgccaatggagagaagggcggcagg
gggacccctggaaagccaggaccgcgggggcagcgaggcccaacgggtccgaggggtgaa
agaggcccccggggcatcactgggaagcctggccccaagggcaactccggaggtgacggc
ccagctggccctcctggtgaacggggacccaatggaccccaaggacccacaggatttcct
ggaccaaagggcccccctggccctccaggcaaggatggactcccaggacaccctggacag
agaggcgagactggtttccaaggcaagaccggccctccaggcccccccggcgtggtcggc
cctcagggtcccacgggagaaacgggcccaatgggtgagcgtggccaccctgggccccct
ggaccccccggtgaacaggggcttccgggccttgctggaaaagaagggacgaagggtgac
ccaggccctgcaggcctccctgggaaagatggccctccaggattacgtggtttccctggg
gaccgagggcttcctggtccagtgggagctcttggactgaaaggcaatgaagggccccct
ggcccaccaggccctgcgggatctccaggggagagaggtccagctggagccgctgggccc
atcggaattccagggagacctgggccccagggacccccagggccggcaggagagaaaggg
gctcctggcgagaaaggcccacaaggcccagctggccgagacggtctccaggggcctgtg
gggctcccgggtccagctggccctgtgggtccccctggagaagacggagataagggagag
atcggggagccggggcagaaaggaagcaagggggacaaaggagaacagggtcctcctggg
cctacaggtcctcaaggccccatcggacagccaggcccctctggagctgacggcgagccg
gggcctcggggccagcagggccttttcgggcagaaaggtgatgaaggtcccagaggcttt
cctggaccccctgggccagtggggctgcagggtttgccaggacctccaggcgagaagggt
gagacaggagacgtgggccagatgggccccccgggtccccctggcccccgaggaccctcc
ggagctccaggtgctgatggcccacaaggtcccccaggtggaataggaaaccctggtgca
gtgggagagaagggcgagcctggcgaagcaggtgagcctggccttccgggagaaggcggc
cccccgggacccaaaggagaaaggggagagaagggcgagtcaggcccttcaggtgctgcc
ggaccccctggacccaaaggccctcccggagatgatggtcccaaaggcagccctggccca
gtgggttttcctggagatcctggcccccccggagagcctggccccgcgggtcaagatggt
ccccctggtgacaaaggagatgatggtgaacccgggcagacgggatcccccggccctact
ggtgaaccaggtccatcggggcctccaggaaaaaggggtcccccaggccccgcaggcccc
gaaggcagacagggagagaaaggggccaagggagaagccggcttggaaggccctcctggg
aagactggccccatcggcccccagggggcccctgggaagcccggaccggatggccttcga
gggatccctggccctgtgggagaacaaggtctcccaggatccccaggcccggacggtccc
cccggccccatgggtcccccaggacttcccggcctcaaaggagattctggtcccaaaggt
gaaaagggtcatccaggcctgatcgggctcatcggtcctccgggtgaacagggtgagaag
ggcgaccgtggtctccctggcccccagggctcctccggtcctaagggagaacagggtatc
actggtccttctggcccgattgggcctcctgggccccctggcctgccgggtccgcctggt
ccaaaaggtgctaagggctcctcgggtccaactggcccgaagggtgaggcaggccaccca
ggacccccaggccccccgggccccccgggagaggtcatccagcccctgccaatccaggca
tccaggacgcggcggaacatcgacgccagccagctgctggacgacgggaatggcgagaac
tacgtggactacgcggacggcatggaagagatcttcggctctctcaactctctgaagctg
gagattgagcagatgaaacggcccctgggcacgcagcagaaccccgcccgcacctgcaag
gacctgcagctctgccaccccgacttcccagatggtgaatactgggtcgatcctaaccaa
ggatgctccagggattccttcaaggtttactgcaacttcacagccggggggtcgacatgc
gtcttccctgacaagaagtccgaaggggccagaatcacttcttggcccaaagaaaacccg
ggctcctggttcagtgaattcaagcgtgggaaactgctctcctatgtggacgccgagggc
aaccctgtgggtgtggtacagatgaccttcctgcggctgctgagcgcctctgcccaccag
aacgtcacctaccactgctaccagtcagtggcctggcaggacgcagccacgggcagctac
gacaaggccctccgcttcctgggctccaacgacgaggagatgtcctatgacaacaacccc
tacatccgcgccctggtggacggctgtgctaccaagaaaggctaccagaagacggttctg
gagatcgacacccccaaagtggagcaggtgcccatcgtggacatcatgttcaatgacttc
ggtgaagcgtcacagaaatttggatttgaagtggggccggcttgcttcatgggctag

KEGG   Homo sapiens (human): 1290
Entry
1290              CDS       T01001                                 

Gene name
COL5A2, EDSC, EDSCL2
Definition
(RefSeq) collagen type V alpha 2 chain
  KO
K19721  collagen type V/XI/XXIV/XXVII, alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04974  Protein digestion and absorption
Disease
H00802  Ehlers-Danlos syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    1290 (COL5A2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    1290 (COL5A2)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Heparin
  Extracellular matrix molecules
   1290 (COL5A2)
SSDB
Motif
Pfam: Collagen COLFI VWC TILa Amnionless
Other DBs
NCBI-GeneID: 1290
NCBI-ProteinID: NP_000384
OMIM: 120190
HGNC: 2210
Ensembl: ENSG00000204262
Vega: OTTHUMG00000149842
Pharos: P05997(Tbio)
UniProt: P05997
Position
2q32.2
AA seq 1499 aa
MMANWAEARPLLILIVLLGQFVSIKAQEEDEDEGYGEEIACTQNGQMYLNRDIWKPAPCQ
ICVCDNGAILCDKIECQDVLDCADPVTPPGECCPVCSQTPGGGNTNFGRGRKGQKGEPGL
VPVVTGIRGRPGPAGPPGSQGPRGERGPKGRPGPRGPQGIDGEPGVPGQPGAPGPPGHPS
HPGPDGLSRPFSAQMAGLDEKSGLGSQVGLMPGSVGPVGPRGPQGLQGQQGGAGPTGPPG
EPGDPGPMGPIGSRGPEGPPGKPGEDGEPGRNGNPGEVGFAGSPGARGFPGAPGLPGLKG
HRGHKGLEGPKGEVGAPGSKGEAGPTGPMGAMGPLGPRGMPGERGRLGPQGAPGQRGAHG
MPGKPGPMGPLGIPGSSGFPGNPGMKGEAGPTGARGPEGPQGQRGETGPPGPVGSPGLPG
AIGTDGTPGAKGPTGSPGTSGPPGSAGPPGSPGPQGSTGPQGIRGQPGDPGVPGFKGEAG
PKGEPGPHGIQGPIGPPGEEGKRGPRGDPGTVGPPGPVGERGAPGNRGFPGSDGLPGPKG
AQGERGPVGSSGPKGSQGDPGRPGEPGLPGARGLTGNPGVQGPEGKLGPLGAPGEDGRPG
PPGSIGIRGQPGSMGLPGPKGSSGDPGKPGEAGNAGVPGQRGAPGKDGEVGPSGPVGPPG
LAGERGEQGPPGPTGFQGLPGPPGPPGEGGKPGDQGVPGDPGAVGPLGPRGERGNPGERG
EPGITGLPGEKGMAGGHGPDGPKGSPGPSGTPGDTGPPGLQGMPGERGIAGTPGPKGDRG
GIGEKGAEGTAGNDGARGLPGPLGPPGPAGPTGEKGEPGPRGLVGPPGSRGNPGSRGENG
PTGAVGFAGPQGPDGQPGVKGEPGEPGQKGDAGSPGPQGLAGSPGPHGPNGVPGLKGGRG
TQGPPGATGFPGSAGRVGPPGPAGAPGPAGPLGEPGKEGPPGLRGDPGSHGRVGDRGPAG
PPGGPGDKGDPGEDGQPGPDGPPGPAGTTGQRGIVGMPGQRGERGMPGLPGPAGTPGKVG
PTGATGDKGPPGPVGPPGSNGPVGEPGPEGPAGNDGTPGRDGAVGERGDRGDPGPAGLPG
SQGAPGTPGPVGAPGDAGQRGDPGSRGPIGPPGRAGKRGLPGPQGPRGDKGDHGDRGDRG
QKGHRGFTGLQGLPGPPGPNGEQGSAGIPGPFGPRGPPGPVGPSGKEGNPGPLGPIGPPG
VRGSVGEAGPEGPPGEPGPPGPPGPPGHLTAALGDIMGHYDESMPDPLPEFTEDQAAPDD
KNKTDPGVHATLKSLSSQIETMRSPDGSKKHPARTCDDLKLCHSAKQSGEYWIDPNQGSV
EDAIKVYCNMETGETCISANPSSVPRKTWWASKSPDNKPVWYGLDMNRGSQFAYGDHQSP
NTAITQMTFLRLLSKEASQNITYICKNSVGYMDDQAKNLKKAVVLKGANDLDIKAEGNIR
FRYIVLQDTCSKRNGNVGKTVFEYRTQNVARLPIIDLAPVDVGGTDQEFGVEIGPVCFV
NT seq 4500 nt   +upstreamnt  +downstreamnt
atgatggcaaactgggcggaagcaagacctctcctcattcttattgttttattagggcaa
tttgtctcaataaaagcccaggaagaagacgaggatgaaggatatggtgaagaaatagcc
tgcactcagaatggccagatgtacttaaacagggacatttggaaacctgccccttgtcag
atctgtgtctgtgacaatggagccattctctgtgacaagatagaatgccaggatgtgctg
gactgtgccgaccctgtaacgccccctggggaatgctgtcctgtctgttcacaaacacct
ggaggtggcaataccaattttggtagaggaagaaagggacaaaagggagaaccaggatta
gtgcctgttgtaacaggcatacgtggtcgtccaggaccggcaggacctccaggatcacag
ggaccaagaggagagcgagggccaaaaggaagacctggccctcgtggacctcagggaatt
gatggagaaccaggtgttcctggtcaacctggtgctccaggacctcctggacatccgtcc
cacccaggacccgatggcttgagcaggccgttttcagctcaaatggctgggttggatgaa
aaatctggacttgggagtcaagtaggactaatgcctggctctgtgggtcctgttggccca
aggggaccacagggtttacaaggacagcaaggtggtgcaggacctacaggacctcctggt
gaacctggtgatcctggaccaatgggtccgattggttcacgtggaccagagggccctcct
ggtaaacctggggaagatggtgaacctggcagaaatggaaatcctggtgaagtgggattt
gcaggatctccgggagctcgtggatttcctggggctcctggtcttccaggtctgaagggt
caccgaggacacaaaggtcttgaaggccctaaaggtgaagttggagcacctggttccaag
ggtgaagctggccccactggtccaatgggtgccatgggtcctctgggtccgaggggaatg
ccaggagagagagggagacttgggccacagggtgctcctggacaacgaggtgcacatggt
atgcctggaaaacctggaccaatgggtcctcttgggataccaggctcttctggttttcca
ggaaatcctggaatgaagggagaagcaggtcctacaggggcgcgaggccctgaaggtcct
caggggcagagaggtgaaactgggcccccaggtccagttggctctccaggtcttcctggt
gcaataggaactgatggtactcctggtgccaaaggcccaacgggctctccaggtacctct
ggtcctcctggctcagcagggcctcctggatctccaggacctcagggtagcactggtcct
cagggaattcgaggccaaccgggtgatccaggagttccaggtttcaaaggagaagctggc
ccaaaaggggaaccagggccacatggtattcagggtccgataggcccacccggtgaagaa
ggcaaaagaggtcccagaggtgacccaggaacagttggtcctccagggccagtgggagaa
aggggtgctcctggcaatcgtggttttccaggctctgatggtttacctgggccaaagggt
gctcaaggagaacggggtcctgtaggttcttcaggacccaaaggaagccagggggatcca
ggacgtccaggggaacctgggcttccaggtgctcggggtttgacaggaaatcctggtgtt
caaggtcctgaaggaaaacttggacctttgggtgcgccaggggaagatggccgtccaggt
cctccaggctccataggaatcagagggcagcccgggagcatgggccttccaggccccaaa
ggtagcagtggtgaccctgggaaacctggagaagcaggaaatgctggagttcctgggcag
aggggagctcctggaaaagatggtgaagttggtccttctggtcctgtgggcccgccgggt
ctagctggtgaaagaggagaacaaggacctccaggccccacaggttttcaggggcttcct
ggtcctccagggcctcctggagaaggtggaaaaccaggtgatcaaggtgttcctggagat
cccggagcagttggcccgttaggacctagaggagaacgaggaaatcctggggaaagagga
gaacctgggataactggactccctggtgagaagggaatggctggaggacatggtcctgat
ggcccaaaaggcagtccaggtccatctgggacccctggagatacaggcccaccaggtctt
caaggtatgccgggagaaagaggaattgcaggaactcctggccccaagggtgacagaggt
ggcataggagaaaaaggtgctgaaggcacagctggaaatgatggtgcaagaggtcttcca
ggtcctttgggccctccaggtccggcaggtcctactggagaaaagggtgaacctggtcct
cgaggtttagttggccctcctggctcccggggcaatcctggttctcgaggtgaaaatggg
ccaactggagctgttggttttgccggaccccagggtcctgacggacagcctggagtaaaa
ggtgaacctggagagccaggacagaagggagatgctggttctcctggaccacaaggttta
gcaggatcccctggccctcatggtcctaatggtgttcctggactaaaaggtggtcgagga
acccaaggtccgcctggtgctacaggatttcctggttctgcgggcagagttggacctcca
ggccctgctggagctccaggacctgcgggacccctaggggaacccgggaaggagggacct
ccaggtcttcgtggggaccctggctctcatgggcgtgtgggagatcgaggaccagctggc
ccccctggtggcccaggagacaaaggggacccaggagaagatgggcaacctggtccagat
ggcccccctggtccagctggaacgaccgggcagagaggaattgttggcatgcctgggcaa
cgtggagagagaggcatgcccggcctaccaggcccagcgggaacaccaggaaaagtagga
ccaactggtgcaacaggagataaaggtccacctggacctgtggggcccccaggctccaat
ggtcctgtaggggaacctggaccagaaggtccagctggcaatgatggtaccccaggacgg
gatggtgctgttggagaacgtggtgatcgtggagaccctgggcctgcaggtctgccaggc
tctcagggtgcccctggaactcctggccctgtgggtgctccaggagatgcaggacaaaga
ggagatccgggttctcggggtcctataggaccacctggtcgagctgggaaacgtggatta
cctggaccccaaggacctcgtggtgacaaaggtgatcatggagaccgaggtgacagaggt
cagaagggccacagaggctttactggtcttcagggtcttcctggccctcctggtccaaat
ggtgaacaaggaagtgctggaatccctggaccatttggcccaagaggtcctccaggccca
gttggtccttcaggtaaagaaggaaaccctgggccacttgggccaattggacctccaggt
gtacgaggcagtgtaggagaagcaggacctgagggccctcctggtgagcctggcccacct
ggccctccgggtccccctggccaccttacagctgctcttggggatatcatggggcactat
gatgaaagcatgccagatccacttcctgagtttactgaagatcaggcggctcctgatgac
aaaaacaaaacggacccaggggttcatgctaccctgaagtcactcagtagtcagattgaa
accatgcgcagccccgatggctcgaaaaagcacccagcccgcacgtgtgatgacctaaag
ctttgccattccgcaaagcagagtggtgaatactggattgatcctaaccaaggatctgtt
gaagatgcaatcaaagtttactgcaacatggaaacaggagaaacatgtatttcagcaaac
ccatccagtgtaccacgtaaaacctggtgggccagtaaatctcctgacaataaacctgtt
tggtatggtcttgatatgaacagagggtctcagttcgcttatggagaccaccaatcacct
aatacagccattactcagatgacttttttgcgccttttatcaaaagaagcctcccagaac
atcacttacatctgtaaaaacagtgtaggatacatggacgatcaagctaagaacctcaaa
aaagctgtggttctcaaaggggcaaatgacttagatatcaaagcagagggaaatattaga
ttccggtatatcgttcttcaagacacttgctctaagcggaatggaaatgtgggcaagact
gtctttgaatatagaacacagaatgtggcacgcttgcccatcatagatcttgctcctgtg
gatgttggcggcacagaccaggaattcggcgttgaaattgggccagtttgttttgtgtaa

KEGG   Homo sapiens (human): 1291
Entry
1291              CDS       T01001                                 

Gene name
COL6A1, BTHLM1, OPLL, UCHMD1
Definition
(RefSeq) collagen type VI alpha 1 chain
  KO
K06238  collagen type VI alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04974  Protein digestion and absorption
hsa05165  Human papillomavirus infection
Disease
H00431  Ossification of the posterior longitudinal ligament of spine
H01340  Bethlem myopathy
H01341  Collagen VI myopathy
H01778  Ullrich disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04151 PI3K-Akt signaling pathway
    1291 (COL6A1)
  09133 Signaling molecules and interaction
   04512 ECM-receptor interaction
    1291 (COL6A1)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04510 Focal adhesion
    1291 (COL6A1)
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    1291 (COL6A1)
 09160 Human Diseases
  09172 Infectious disease: viral
   05165 Human papillomavirus infection
    1291 (COL6A1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    1291 (COL6A1)
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    1291 (COL6A1)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   1291 (COL6A1)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Heparin
  Extracellular matrix molecules
   1291 (COL6A1)
 Hyaluronan
  Extracellular matrix or blood plasma proteins
   1291 (COL6A1)
SSDB
Motif
Pfam: VWA Collagen VWA_2 VWA_3
Other DBs
NCBI-GeneID: 1291
NCBI-ProteinID: NP_001839
OMIM: 120220
HGNC: 2211
Ensembl: ENSG00000142156
Vega: OTTHUMG00000090440
Pharos: P12109(Tbio)
UniProt: P12109 A0A384P5H7
Position
21q22.3
AA seq 1028 aa
MRAARALLPLLLQACWTAAQDEPETPRAVAFQDCPVDLFFVLDTSESVALRLKPYGALVD
KVKSFTKRFIDNLRDRYYRCDRNLVWNAGALHYSDEVEIIQGLTRMPGGRDALKSSVDAV
KYFGKGTYTDCAIKKGLEQLLVGGSHLKENKYLIVVTDGHPLEGYKEPCGGLEDAVNEAK
HLGVKVFSVAITPDHLEPRLSIIATDHTYRRNFTAADWGQSRDAEEAISQTIDTIVDMIK
NNVEQVCCSFECQPARGPPGLRGDPGFEGERGKPGLPGEKGEAGDPGRPGDLGPVGYQGM
KGEKGSRGEKGSRGPKGYKGEKGKRGIDGVDGVKGEMGYPGLPGCKGSPGFDGIQGPPGP
KGDPGAFGLKGEKGEPGADGEAGRPGSSGPSGDEGQPGEPGPPGEKGEAGDEGNPGPDGA
PGERGGPGERGPRGTPGTRGPRGDPGEAGPQGDQGREGPVGVPGDPGEAGPIGPKGYRGD
EGPPGSEGARGAPGPAGPPGDPGLMGERGEDGPAGNGTEGFPGFPGYPGNRGAPGINGTK
GYPGLKGDEGEAGDPGDDNNDIAPRGVKGAKGYRGPEGPQGPPGHQGPPGPDECEILDII
MKMCSCCECKCGPIDLLFVLDSSESIGLQNFEIAKDFVVKVIDRLSRDELVKFEPGQSYA
GVVQYSHSQMQEHVSLRSPSIRNVQELKEAIKSLQWMAGGTFTGEALQYTRDQLLPPSPN
NRIALVITDGRSDTQRDTTPLNVLCSPGIQVVSVGIKDVFDFIPGSDQLNVISCQGLAPS
QGRPGLSLVKENYAELLEDAFLKNVTAQICIDKKCPDYTCPITFSSPADITILLDGSASV
GSHNFDTTKRFAKRLAERFLTAGRTDPAHDVRVAVVQYSGTGQQRPERASLQFLQNYTAL
ASAVDAMDFINDATDVNDALGYVTRFYREASSGAAKKRLLLFSDGNSQGATPAAIEKAVQ
EAQRAGIEIFVVVVGRQVNEPHIRVLVTGKTAEYDVAYGESHLFRVPSYQALLRGVFHQT
VSRKVALG
NT seq 3087 nt   +upstreamnt  +downstreamnt
atgagggcggcccgtgctctgctgcccctgctgctgcaggcctgctggacagccgcgcag
gatgagccggagaccccgagggccgtggccttccaggactgccccgtggacctgttcttt
gtgctggacacctctgagagcgtggccctgaggctgaagccctacggggccctcgtggac
aaagtcaagtccttcaccaagcgcttcatcgacaacctgagggacaggtactaccgctgt
gaccgaaacctggtgtggaacgcaggcgcgctgcactacagtgacgaggtggagatcatc
caaggcctcacgcgcatgcctggcggccgcgacgcactcaaaagcagcgtggacgcggtc
aagtactttgggaagggcacctacaccgactgcgctatcaagaaggggctggagcagctc
ctcgtggggggctcccacctgaaggagaataagtacctgattgtggtgaccgacgggcac
cccctggagggctacaaggaaccctgtggggggctggaggatgctgtgaacgaggccaag
cacctgggcgtcaaagtcttctcggtggccatcacacccgaccacctggagccgcgtctg
agcatcatcgccacggaccacacgtaccggcgcaacttcacggcggctgactggggccag
agccgcgacgcagaggaggccatcagccagaccatcgacaccatcgtggacatgatcaaa
aataacgtggagcaagtgtgctgctccttcgaatgccagcctgcaagaggacctccgggg
ctccggggcgaccccggctttgagggagaacgaggcaagccggggctcccaggagagaag
ggagaagccggagatcctggaagacccggggacctcggacctgttgggtaccagggaatg
aagggagaaaaagggagccgtggggagaagggctccaggggacccaagggctacaaggga
gagaagggcaagcgtggcatcgacggggtggacggcgtgaagggggagatggggtaccca
ggcctgccaggctgcaagggctcgcccgggtttgacggcattcaaggaccccctggcccc
aagggagaccccggtgcctttggactgaaaggagaaaagggcgagcctggagctgacggg
gaggcggggagaccagggagctcgggaccatctggagacgagggccagccgggagagcct
gggccccccggagagaaaggagaggcgggcgacgaggggaacccaggacctgacggtgcc
cccggggagcggggtggccctggagagagaggaccacgggggaccccaggcacgcgggga
ccaagaggagaccctggtgaagctggcccgcagggtgatcagggaagagaaggccccgtt
ggtgtccctggagacccgggcgaggctggccctatcggacctaaaggctaccgaggcgat
gagggtcccccagggtccgagggtgccagaggagccccaggacctgccggaccccctgga
gacccggggctgatgggtgaaaggggagaagacggccccgctggaaatggcaccgagggc
ttccccggcttccccgggtatccgggcaacaggggcgctcccgggataaacggcacgaag
ggctaccccggcctcaagggggacgagggagaagccggggaccccggagacgataacaac
gacattgcaccccgaggagtcaaaggagcaaaggggtaccggggtcccgagggcccccag
ggacccccaggacaccaaggaccgcctgggccggacgaatgcgagattttggacatcatc
atgaaaatgtgctcttgctgtgaatgcaagtgcggccccatcgacctcctgttcgtgctg
gacagctcagagagcattggcctgcagaacttcgagattgccaaggacttcgtcgtcaag
gtcatcgaccggctgagccgggacgagctggtcaagttcgagccagggcagtcgtacgcg
ggtgtggtgcagtacagccacagccagatgcaggagcacgtgagcctgcgcagccccagc
atccggaacgtgcaggagctcaaggaagccatcaagagcctgcagtggatggcgggcggc
accttcacgggggaggccctgcagtacacgcgggaccagctgctgccgcccagcccgaac
aaccgcatcgccctggtcatcactgacgggcgctcagacactcagagggacaccacaccg
ctcaacgtgctctgcagccccggcatccaggtggtctccgtgggcatcaaagacgtgttt
gacttcatcccaggctcagaccagctcaatgtcatttcttgccaaggcctggcaccatcc
cagggccggcccggcctctcgctggtcaaggagaactatgcagagctgctggaggatgcc
ttcctgaagaatgtcaccgcccagatctgcatagacaagaagtgtccagattacacctgc
cccatcacgttctcctccccggctgacatcaccatcctgctggacggctccgccagcgtg
ggcagccacaactttgacaccaccaagcgcttcgccaagcgcctggccgagcgcttcctc
acagcgggcaggacggaccccgcccacgacgtgcgggtggcggtggtgcagtacagcggc
acgggccagcagcgcccagagcgggcgtcgctgcagttcctgcagaactacacggccctg
gccagtgccgtcgatgccatggactttatcaacgacgccaccgacgtcaacgatgccctg
ggctatgtgacccgcttctaccgcgaggcctcgtccggcgctgccaagaagaggctgctg
ctcttctcagatggcaactcgcagggcgccacgcccgctgccatcgagaaggccgtgcag
gaagcccagcgggcaggcatcgagatcttcgtggtggtcgtgggccgccaggtgaatgag
ccccacatccgcgtcctggtcaccggcaagacggccgagtacgacgtggcctacggcgag
agccacctgttccgtgtccccagctaccaggccctgctccgcggtgtcttccaccagaca
gtctccaggaaggtggcgctgggctag

KEGG   Homo sapiens (human): 1292
Entry
1292              CDS       T01001                                 

Gene name
COL6A2, BTHLM1, PP3610, UCMD1
Definition
(RefSeq) collagen type VI alpha 2 chain
  KO
K06238  collagen type VI alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04974  Protein digestion and absorption
hsa05165  Human papillomavirus infection
Disease
H01338  Myosclerosis
H01340  Bethlem myopathy
H01341  Collagen VI myopathy
H01778  Ullrich disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04151 PI3K-Akt signaling pathway
    1292 (COL6A2)
  09133 Signaling molecules and interaction
   04512 ECM-receptor interaction
    1292 (COL6A2)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04510 Focal adhesion
    1292 (COL6A2)
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    1292 (COL6A2)
 09160 Human Diseases
  09172 Infectious disease: viral
   05165 Human papillomavirus infection
    1292 (COL6A2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    1292 (COL6A2)
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    1292 (COL6A2)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   1292 (COL6A2)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Heparin
  Extracellular matrix molecules
   1292 (COL6A2)
 Hyaluronan
  Extracellular matrix or blood plasma proteins
   1292 (COL6A2)
SSDB
Motif
Pfam: VWA Collagen VWA_2 VWA_3 Ins134_P3_kin_N ParE-like_toxin Lipoprotein_21
Other DBs
NCBI-GeneID: 1292
NCBI-ProteinID: NP_001840
OMIM: 120240
HGNC: 2212
Ensembl: ENSG00000142173
Vega: OTTHUMG00000090489
Pharos: P12110(Tbio)
UniProt: P12110 A0A384MDP3
Position
21q22.3
AA seq 1019 aa
MLQGTCSVLLLWGILGAIQAQQQEVISPDTTERNNNCPEKTDCPIHVYFVLDTSESVTMQ
SPTDILLFHMKQFVPQFISQLQNEFYLDQVALSWRYGGLHFSDQVEVFSPPGSDRASFIK
NLQGISSFRRGTFTDCALANMTEQIRQDRSKGTVHFAVVITDGHVTGSPCGGIKLQAERA
REEGIRLFAVAPNQNLKEQGLRDIASTPHELYRNDYATMLPDSTEIDQDTINRIIKVMKH
EAYGECYKVSCLEIPGPSGPKGYRGQKGAKGNMGEPGEPGQKGRQGDPGIEGPIGFPGPK
GVPGFKGEKGEFGADGRKGAPGLAGKNGTDGQKGKLGRIGPPGCKGDPGNRGPDGYPGEA
GSPGERGDQGGKGDPGRPGRRGPPGEIGAKGSKGYQGNSGAPGSPGVKGAKGGPGPRGPK
GEPGRRGDPGTKGSPGSDGPKGEKGDPGPEGPRGLAGEVGNKGAKGDRGLPGPRGPQGAL
GEPGKQGSRGDPGDAGPRGDSGQPGPKGDPGRPGFSYPGPRGAPGEKGEPGPRGPEGGRG
DFGLKGEPGRKGEKGEPADPGPPGEPGPRGPRGVPGPEGEPGPPGDPGLTECDVMTYVRE
TCGCCDCEKRCGALDVVFVIDSSESIGYTNFTLEKNFVINVVNRLGAIAKDPKSETGTRV
GVVQYSHEGTFEAIQLDDERIDSLSSFKEAVKNLEWIAGGTWTPSALKFAYDRLIKESRR
QKTRVFAVVITDGRHDPRDDDLNLRALCDRDVTVTAIGIGDMFHEKHESENLYSIACDKP
QQVRNMTLFSDLVAEKFIDDMEDVLCPDPQIVCPDLPCQTELSVAQCTQRPVDIVFLLDG
SERLGEQNFHKARRFVEQVARRLTLARRDDDPLNARVALLQFGGPGEQQVAFPLSHNLTA
IHEALETTQYLNSFSHVGAGVVHAINAIVRSPRGGARRHAELSFVFLTDGVTGNDSLHES
AHSMRKQNVVPTVLALGSDVDMDVLTTLSLGDRAAVFHEKDYDSLAQPGFFDRFIRWIC
NT seq 3060 nt   +upstreamnt  +downstreamnt
atgctccagggcacctgctccgtgctcctgctctggggaatcctgggggccatccaggcc
cagcagcaggaggtcatctcgccggacactaccgagagaaacaacaactgcccagagaag
accgactgccccatccacgtgtacttcgtgctggacacctcggagagcgtcaccatgcag
tcccccacggacatcctgctcttccacatgaagcagttcgtgccgcagttcatcagccag
ctgcagaacgagttctacctggaccaggtggcgctgagctggcgctacggcggcctgcac
ttctctgaccaggtggaggtgttcagcccaccgggcagcgaccgggcctccttcatcaag
aacctgcagggcatcagctccttccgccgcggcaccttcaccgactgcgcgctggccaac
atgacggagcagatccggcaggaccgcagcaagggcaccgtccacttcgccgtggtcatc
accgacggccacgtcaccggcagcccctgcgggggcatcaagctgcaggccgagcgggcc
cgcgaggagggcatccggctcttcgccgtggcccccaaccagaacctgaaggagcagggc
ctgcgggacatcgccagcacgccgcacgagctctaccgcaacgactacgccaccatgctg
cccgactccaccgagatcgaccaggacaccatcaaccgcatcatcaaggtcatgaaacac
gaagcctacggagagtgctacaaggtgagctgcctggaaatccctgggccctctggcccc
aagggctaccgtggacagaagggtgccaagggcaacatgggtgagccgggagagcctggc
cagaagggaagacagggagacccgggcatcgaaggccccattggattcccaggacccaag
ggcgttcctggcttcaaaggagagaagggtgaatttggagccgacggtcgcaagggggcc
cctggcctggctggcaagaacgggaccgatggacagaagggcaagctggggcgcatcgga
cctcctggctgcaagggagaccctggaaaccggggccccgacggttacccgggggaagca
gggagtccaggggagcgaggagaccaaggcggcaagggggaccctggccgcccaggacgc
agagggcccccgggagaaatcggggccaagggaagcaaggggtatcaaggcaacagtgga
gccccaggaagtcctggtgtgaaaggagccaagggcgggcctgggccccgcggacccaaa
ggcgagccggggcgcaggggagaccccggcaccaagggcagcccaggcagcgatggcccc
aagggggagaagggggaccctggccctgaggggccccgcggcctggctggagaggttggc
aacaaaggagccaagggagaccgaggcttgcctggacccagaggcccccagggagctctt
ggggagcccggaaagcagggatctcggggagaccccggtgatgcaggaccccgtggagac
tcaggacagccaggccccaagggagaccccggcaggcctggattcagctacccaggaccc
cgaggagcacccggagaaaaaggcgagcccggcccacgcggccccgagggaggccgaggc
gactttggcttgaaaggagaacctgggaggaaaggagagaaaggagagcctgcggatcct
ggtccccctggtgagccaggccctcgggggccaagaggagtcccaggacccgagggtgag
cccggcccccctggagaccccggtctcacggagtgtgacgtcatgacctacgtgagggag
acctgcgggtgctgcgactgtgagaagcgctgtggcgccctggacgtggtcttcgtcatc
gacagctccgagagcattgggtacaccaacttcacactggagaagaacttcgtcatcaac
gtggtcaacaggctgggtgccatcgctaaggaccccaagtccgagacagggacgcgtgtg
ggcgtggtgcagtacagccacgagggcacctttgaggccatccagctggacgacgaacgt
atcgactccctgtcgagcttcaaggaggctgtcaagaacctcgagtggattgcgggcggc
acctggacaccctcagccctcaagtttgcctacgaccgcctcatcaaggagagccggcgc
cagaagacacgtgtgtttgcggtggtcatcacggacgggcgccacgaccctcgggacgat
gacctcaacttgcgggcgctgtgcgaccgcgacgtcacagtgacggccatcggcatcggg
gacatgttccacgagaagcacgagagtgaaaacctctactccatcgcctgcgacaagcca
cagcaggtgcgcaacatgacgctgttctccgacctggtcgctgagaagttcatcgatgac
atggaggacgtcctctgcccggaccctcagatcgtgtgcccagaccttccctgccaaaca
gagctgtccgtggcacagtgcacgcagcggcccgtggacatcgtcttcctgctggacggc
tccgagcggctgggtgagcagaacttccacaaggcccggcgcttcgtggagcaggtggcg
cggcggctgacgctggcccggagggacgacgaccctctcaacgcacgcgtggcgctgctg
cagtttggtggccccggcgagcagcaggtggccttcccgctgagccacaacctcacggcc
atccacgaggcgctggagaccacacaatacctgaactccttctcgcacgtgggcgcaggc
gtggtgcacgccatcaatgccatcgtgcgcagcccgcgtggcggggcccggaggcacgca
gagctgtccttcgtgttcctcacggacggcgtcacgggcaacgacagtctgcacgagtcg
gcgcactccatgcgcaagcagaacgtggtacccaccgtgctggccttgggcagcgacgtg
gacatggacgtgctcaccacgctcagcctgggtgaccgcgccgccgtgttccacgagaag
gactatgacagcctggcgcaacccggcttcttcgaccgcttcatccgctggatctgctag

KEGG   Homo sapiens (human): 1293
Entry
1293              CDS       T01001                                 

Gene name
COL6A3, BTHLM1, DYT27, UCMD1
Definition
(RefSeq) collagen type VI alpha 3 chain
  KO
K06238  collagen type VI alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04974  Protein digestion and absorption
hsa05165  Human papillomavirus infection
Disease
H00831  Primary dystonia
H01340  Bethlem myopathy
H01341  Collagen VI myopathy
H01778  Ullrich disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04151 PI3K-Akt signaling pathway
    1293 (COL6A3)
  09133 Signaling molecules and interaction
   04512 ECM-receptor interaction
    1293 (COL6A3)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04510 Focal adhesion
    1293 (COL6A3)
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    1293 (COL6A3)
 09160 Human Diseases
  09172 Infectious disease: viral
   05165 Human papillomavirus infection
    1293 (COL6A3)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    1293 (COL6A3)
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    1293 (COL6A3)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   1293 (COL6A3)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Heparin
  Extracellular matrix molecules
   1293 (COL6A3)
 Hyaluronan
  Extracellular matrix or blood plasma proteins
   1293 (COL6A3)
SSDB
Motif
Pfam: VWA VWA_2 Collagen VWA_3 Kunitz_BPTI
Other DBs
NCBI-GeneID: 1293
NCBI-ProteinID: NP_004360
OMIM: 120250
HGNC: 2213
Ensembl: ENSG00000163359
Vega: OTTHUMG00000150020
Pharos: P12111(Tbio)
UniProt: P12111 D9ZGF2 Q63HQ4 Q8N4Z1
Structure
PDB: 
1KTH 2KNT 1KNT 1KUN

Position
2q37.3
AA seq 3177 aa
MRKHRHLPLVAVFCLFLSGFPTTHAQQQQADVKNGAAADIIFLVDSSWTIGEEHFQLVRE
FLYDVVKSLAVGENDFHFALVQFNGNPHTEFLLNTYRTKQEVLSHISNMSYIGGTNQTGK
GLEYIMQSHLTKAAGSRAGDGVPQVIVVLTDGHSKDGLALPSAELKSADVNVFAIGVEDA
DEGALKEIASEPLNMHMFNLENFTSLHDIVGNLVSCVHSSVSPERAGDTETLKDITAQDS
ADIIFLIDGSNNTGSVNFAVILDFLVNLLEKLPIGTQQIRVGVVQFSDEPRTMFSLDTYS
TKAQVLGAVKALGFAGGELANIGLALDFVVENHFTRAGGSRVEEGVPQVLVLISAGPSSD
EIRYGVVALKQASVFSFGLGAQAASRAELQHIATDDNLVFTVPEFRSFGDLQEKLLPYIV
GVAQRHIVLKPPTIVTQVIEVNKRDIVFLVDGSSALGLANFNAIRDFIAKVIQRLEIGQD
LIQVAVAQYADTVRPEFYFNTHPTKREVITAVRKMKPLDGSALYTGSALDFVRNNLFTSS
AGYRAAEGIPKLLVLITGGKSLDEISQPAQELKRSSIMAFAIGNKGADQAELEEIAFDSS
LVFIPAEFRAAPLQGMLPGLLAPLRTLSGTPEVHSNKRDIIFLLDGSANVGKTNFPYVRD
FVMNLVNSLDIGNDNIRVGLVQFSDTPVTEFSLNTYQTKSDILGHLRQLQLQGGSGLNTG
SALSYVYANHFTEAGGSRIREHVPQLLLLLTAGQSEDSYLQAANALTRAGILTFCVGASQ
ANKAELEQIAFNPSLVYLMDDFSSLPALPQQLIQPLTTYVSGGVEEVPLAQPESKRDILF
LFDGSANLVGQFPVVRDFLYKIIDELNVKPEGTRIAVAQYSDDVKVESRFDEHQSKPEIL
NLVKRMKIKTGKALNLGYALDYAQRYIFVKSAGSRIEDGVLQFLVLLVAGRSSDRVDGPA
SNLKQSGVVPFIFQAKNADPAELEQIVLSPAFILAAESLPKIGDLHPQIVNLLKSVHNGA
PAPVSGEKDVVFLLDGSEGVRSGFPLLKEFVQRVVESLDVGQDRVRVAVVQYSDRTRPEF
YLNSYMNKQDVVNAVRQLTLLGGPTPNTGAALEFVLRNILVSSAGSRITEGVPQLLIVLT
ADRSGDDVRNPSVVVKRGGAVPIGIGIGNADITEMQTISFIPDFAVAIPTFRQLGTVQQV
ISERVTQLTREELSRLQPVLQPLPSPGVGGKRDVVFLIDGSQSAGPEFQYVRTLIERLVD
YLDVGFDTTRVAVIQFSDDPKVEFLLNAHSSKDEVQNAVQRLRPKGGRQINVGNALEYVS
RNIFKRPLGSRIEEGVPQFLVLISSGKSDDEVDDPAVELKQFGVAPFTIARNADQEELVK
ISLSPEYVFSVSTFRELPSLEQKLLTPITTLTSEQIQKLLASTRYPPPAVESDAADIVFL
IDSSEGVRPDGFAHIRDFVSRIVRRLNIGPSKVRVGVVQFSNDVFPEFYLKTYRSQAPVL
DAIRRLRLRGGSPLNTGKALEFVARNLFVKSAGSRIEDGVPQHLVLVLGGKSQDDVSRFA
QVIRSSGIVSLGVGDRNIDRTELQTITNDPRLVFTVREFRELPNIEERIMNSFGPSAATP
APPGVDTPPPSRPEKKKADIVFLLDGSINFRRDSFQEVLRFVSEIVDTVYEDGDSIQVGL
VQYNSDPTDEFFLKDFSTKRQIIDAINKVVYKGGRHANTKVGLEHLRVNHFVPEAGSRLD
QRVPQIAFVITGGKSVEDAQDVSLALTQRGVKVFAVGVRNIDSEEVGKIASNSATAFRVG
NVQELSELSEQVLETLHDAMHETLCPGVTDAAKACNLDVILGFDGSRDQNVFVAQKGFES
KVDAILNRISQMHRVSCSGGRSPTVRVSVVANTPSGPVEAFDFDEYQPEMLEKFRNMRSQ
HPYVLTEDTLKVYLNKFRQSSPDSVKVVIHFTDGADGDLADLHRASENLRQEGVRALILV
GLERVVNLERLMHLEFGRGFMYDRPLRLNLLDLDYELAEQLDNIAEKACCGVPCKCSGQR
GDRGPIGSIGPKGIPGEDGYRGYPGDEGGPGERGPPGVNGTQGFQGCPGQRGVKGSRGFP
GEKGEVGEIGLDGLDGEDGDKGLPGSSGEKGNPGRRGDKGPRGEKGERGDVGIRGDPGNP
GQDSQERGPKGETGDLGPMGVPGRDGVPGGPGETGKNGGFGRRGPPGAKGNKGGPGQPGF
EGEQGTRGAQGPAGPAGPPGLIGEQGISGPRGSGGAAGAPGERGRTGPLGRKGEPGEPGP
KGGIGNRGPRGETGDDGRDGVGSEGRRGKKGERGFPGYPGPKGNPGEPGLNGTTGPKGIR
GRRGNSGPPGIVGQKGDPGYPGPAGPKGNRGDSIDQCALIQSIKDKCPCCYGPLECPVFP
TELAFALDTSEGVNQDTFGRMRDVVLSIVNDLTIAESNCPRGARVAVVTYNNEVTTEIRF
ADSKRKSVLLDKIKNLQVALTSKQQSLETAMSFVARNTFKRVRNGFLMRKVAVFFSNTPT
RASPQLREAVLKLSDAGITPLFLTRQEDRQLINALQINNTAVGHALVLPAGRDLTDFLEN
VLTCHVCLDICNIDPSCGFGSWRPSFRDRRAAGSDVDIDMAFILDSAETTTLFQFNEMKK
YIAYLVRQLDMSPDPKASQHFARVAVVQHAPSESVDNASMPPVKVEFSLTDYGSKEKLVD
FLSRGMTQLQGTRALGSAIEYTIENVFESAPNPRDLKIVVLMLTGEVPEQQLEEAQRVIL
QAKCKGYFFVVLGIGRKVNIKEVYTFASEPNDVFFKLVDKSTELNEEPLMRFGRLLPSFV
SSENAFYLSPDIRKQCDWFQGDQPTKNLVKFGHKQVNVPNNVTSSPTSNPVTTTKPVTTT
KPVTTTTKPVTTTTKPVTIINQPSVKPAAAKPAPAKPVAAKPVATKMATVRPPVAVKPAT
AAKPVAAKPAAVRPPAAAAAKPVATKPEVPRPQAAKPAATKPATTKPMVKMSREVQVFEI
TENSAKLHWERAEPPGPYFYDLTVTSAHDQSLVLKQNLTVTDRVIGGLLAGQTYHVAVVC
YLRSQVRATYHGSFSTKKSQPPPPQPARSASSSTINLMVSTEPLALTETDICKLPKDEGT
CRDFILKWYYDPNTKSCARFWYGGCGGNENKFGSQKECEKVCAPVLAKPGVISVMGT
NT seq 9534 nt   +upstreamnt  +downstreamnt
atgaggaaacatcggcacttgcccttagtggccgtcttttgcctctttctctcaggcttt
cctacaactcatgcccagcagcagcaagcagatgtcaaaaatggtgcggctgctgatata
atatttctagtggattcctcttggaccattggagaggaacatttccaacttgttcgagag
tttctatatgatgttgtaaaatccttagctgtgggagaaaatgatttccattttgctctg
gtccagttcaacggaaacccacataccgagttcctgttaaatacgtatcgtactaaacaa
gaagtcctttctcatatttccaacatgtcttatattgggggaaccaatcagactggaaaa
ggattagaatacataatgcaaagccacctcaccaaggctgctggaagccgggccggtgac
ggagtccctcaggttatcgtagtgttaactgatggacactcgaaggatggccttgctctg
ccctcagcggaacttaagtctgctgatgttaacgtgtttgcaattggagttgaggatgca
gatgaaggagcgttaaaagaaatagcaagtgaaccgctcaatatgcatatgttcaaccta
gagaattttacctcacttcatgacatagtaggaaacttagtgtcctgtgtgcattcatcc
gtgagtccagaaagggctggggacacggaaacccttaaagacatcacagcacaagactct
gctgacattattttccttattgatggatcaaacaacaccggaagtgtcaatttcgcagtc
attctcgacttccttgtaaatctccttgagaaactcccaattggaactcagcagatccga
gtgggggtggtccagtttagcgatgagcccagaaccatgttctccttggacacctactcc
accaaggcccaggttctgggtgcagtgaaagccctcgggtttgctggtggggagttggcc
aatatcggcctcgcccttgatttcgtggtggagaaccacttcacccgggcagggggcagc
cgcgtggaggaaggggttccccaggtgctggtcctcataagtgccgggccttctagtgac
gagattcgctacggggtggtagcactgaagcaggctagcgtgttctcattcggccttgga
gcccaggccgcctccagggcagagcttcagcacatagctaccgatgacaacttggtgttt
actgtcccggaattccgtagctttggggacctccaggagaaattactgccgtacattgtt
ggcgtggcccaaaggcacattgtcttgaaaccgccaaccattgtcacacaagtcattgaa
gtcaacaagagagacatagtcttcctggtggatggctcatctgcactgggactggccaac
ttcaatgccatccgagacttcattgctaaagtcatccagaggctggaaatcggacaggat
cttatccaggtggcagtggcccagtatgcagacactgtgaggcctgaattttatttcaat
acccatccaacaaaaagggaagtcataaccgctgtgcggaaaatgaagcccctggacggc
tcggccctgtacacgggctctgctctagactttgttcgtaacaacctattcacgagttca
gccggctaccgggctgccgaggggattcctaagcttttggtgctgatcacaggtggtaag
tccctagatgaaatcagccagcctgcccaggagctgaagagaagcagcataatggccttt
gccattgggaacaagggtgccgatcaggctgagctggaagagatcgctttcgactcctcc
ctggtgttcatcccagctgagttccgagccgccccattgcaaggcatgctgcctggcttg
ctggcacctctcaggaccctctctggaacccctgaagttcactcaaacaaaagggatatc
atctttcttttggatggatcagccaacgttggaaaaaccaatttcccttatgtgcgcgac
tttgtaatgaacctagttaacagccttgatattggaaatgacaatattcgtgttggttta
gtgcaatttagtgacactcctgtaacggagttctctttaaacacataccagaccaagtca
gatatccttggtcatctgaggcagctgcagctccagggaggttcgggcctgaacacaggc
tcagccctaagctatgtctatgccaaccacttcacggaagctggcggcagcaggatccgt
gaacacgtgccgcagctcctgcttctgctcacagctgggcagtctgaggactcctatttg
caagctgccaacgccttgacacgcgcgggcatcctgactttttgtgtgggagctagccag
gcgaataaggcagagcttgagcagattgcttttaacccaagcctggtgtatctcatggat
gatttcagctccctgccagctttgcctcagcagctgattcagcccctaaccacatatgtt
agtggaggtgtggaggaagtaccactcgctcagccagagagcaagcgagacattctgttc
ctctttgacggctcagccaatcttgtgggccagttccctgttgtccgtgactttctctac
aagattatcgatgagctcaatgtgaagccagaggggacccgaattgcggtggctcagtac
agcgatgatgtcaaggtggagtcccgttttgatgagcaccagagtaagcctgagatcctg
aatcttgtgaagagaatgaagatcaagacgggcaaagccctcaacctgggctacgcgctg
gactatgcacagaggtacatttttgtgaagtctgctggcagccggatcgaggatggagtg
cttcagttcctggtgctgctggtcgcaggaaggtcatctgaccgtgtggatgggccagca
agtaacctgaagcagagtggggttgtgcctttcatcttccaagccaagaacgcagaccct
gctgagttagagcagatcgtgctgtctccagcgtttatcctggctgcagagtcgcttccc
aagattggagatcttcatccacagatagtgaatctcttaaaatcagtgcacaacggagca
ccagcaccagtttcaggtgaaaaggacgtggtgtttctgcttgatggctctgagggcgtc
aggagcggcttccctctgttgaaagagtttgtccagagagtggtggaaagcctggatgtg
ggccaggaccgggtccgcgtggccgtggtgcagtacagcgaccggaccaggcccgagttc
tacctgaattcatacatgaacaagcaggacgtcgtcaacgctgtccgccagctgaccctg
ctgggagggccgacccccaacaccggggccgccctggagtttgtcctgaggaacatcctg
gtcagctctgcgggaagcaggataacagaaggtgtgccccagctgctgatcgtcctcacg
gccgacaggtctggggatgatgtgcggaacccctccgtggtcgtgaagaggggtggggct
gtgcccattggcattggcatcgggaacgctgacatcacagagatgcagaccatctccttc
atcccggactttgccgtggccattcccacctttcgccagctggggaccgtccaacaggtc
atctctgagagggtgacccagctcacccgcgaggagctgagcaggctgcagccggtgttg
cagcctctaccgagcccaggtgttggtggcaagagggacgtggtctttctcatcgatggg
tcccaaagtgccgggcctgagttccagtacgttcgcaccctcatagagaggctggttgac
tacctggacgtgggctttgacaccacccgggtggctgtcatccagttcagcgatgacccc
aaggtggagttcctgctgaacgcccattccagcaaggatgaagtgcagaacgcggtgcag
cggctgaggcccaagggagggcggcagatcaacgtgggcaatgccctggagtacgtgtcc
aggaacatcttcaagaggcccctggggagccgcattgaagagggcgtcccgcagttcctg
gtcctcatctcgtctggaaagtctgacgatgaggtggacgacccggcggtggagctcaag
cagtttggcgtggcccctttcacgatcgccaggaacgcagaccaggaggagctggtgaag
atctcgctgagccccgaatatgtgttctcggtgagcaccttccgggagctgcccagcctg
gagcagaaactgctgacgcccatcacgaccctgacctcagagcagatccagaagctctta
gccagcactcgctatccacctccagcagttgagagtgatgctgcagacattgtctttctg
atcgacagctctgagggagttaggccagatggctttgcacatattcgagattttgttagc
aggattgttcgaagactcaacatcggccccagtaaagtgagagttggggtcgtgcagttc
agcaatgatgtcttcccagaattctatctgaaaacctacagatcccaggccccggtgctg
gacgccatacggcgcctgaggctcagaggggggtccccactgaacactggcaaggctctc
gaatttgtggcaagaaacctctttgttaagtctgcggggagtcgcatagaagacggggtg
ccccaacacctggtcctggtcctgggtggaaaatcccaggacgatgtgtccaggttcgcc
caggtgatccgttcctcgggcattgtgagtttaggggtaggagaccggaacatcgacaga
acagagctgcagaccatcaccaatgaccccagactggtcttcacagtgcgagagttcaga
gagcttcccaacatagaagaaagaatcatgaactcgtttggaccctccgcagccactcct
gcacctccaggggtggacacccctcctccttcacggccagagaagaagaaagcagacatt
gtgttcctgttggatggttccatcaacttcaggagggacagtttccaggaagtgcttcgt
tttgtgtctgaaatagtggacacagtttatgaagatggcgactccatccaagtggggctt
gtccagtacaactctgaccccactgacgaattcttcctgaaggacttctctaccaagagg
cagattattgacgccatcaacaaagtggtctacaaagggggaagacacgccaacactaag
gtgggccttgagcacctgcgggtaaaccactttgtgcctgaggcaggcagccgcctggac
cagcgggtccctcagattgcctttgtgatcacgggaggaaagtcggtggaagatgcacag
gatgtgagcctggccctcacccagaggggggtcaaagtgtttgctgttggagtgaggaat
atcgactcggaggaggttggaaagatagcgtccaacagcgccacagcgttccgcgtgggc
aacgtccaggagctgtccgaactgagcgagcaagttttggaaactttgcatgatgcgatg
catgaaaccctttgccctggtgtaactgatgctgccaaagcttgtaatctggatgtgatt
ctggggtttgatggttctagagaccagaatgtttttgtggcccagaagggcttcgagtcc
aaggtggacgccatcttgaacagaatcagccagatgcacagggtcagctgcagcggtggc
cgctcgcccaccgtgcgtgtgtcagtggtggccaacacgccctcgggcccggtggaggcc
tttgactttgacgagtaccagccagagatgctcgagaagttccggaacatgcgcagccag
cacccctacgtcctcacggaggacaccctgaaggtctacctgaacaagttcagacagtcc
tcgccggacagcgtgaaggtggtcattcattttactgatggagcagacggagatctggct
gatttacacagagcatctgagaacctccgccaagaaggagtccgtgccttgatcctggtg
ggccttgaacgagtggtcaacttggagcggctaatgcatctggagtttgggcgagggttt
atgtatgacaggcccctgaggcttaacttgctggacttggattatgaactagcggagcag
cttgacaacattgccgagaaagcttgctgtggggttccctgcaagtgctctgggcagagg
ggagaccgcgggcccatcggcagcatcgggccaaagggtattcctggagaagacggctac
cgaggctatcctggtgatgagggtggacccggtgagcgtggtccgcctggtgtgaacggc
actcaaggtttccagggctgcccgggccagagaggagtaaagggctctcggggattccca
ggagagaagggcgaagtaggagaaattggactggatggtctggatggtgaagatggagac
aaaggattgcctggttcttctggagagaaagggaatcctggaagaaggggtgataaagga
cctcgaggagagaaaggagaaagaggagatgttgggattcgaggggacccgggtaaccca
ggacaagacagccaggagagaggacccaaaggagaaaccggtgacctcggccccatgggt
gtcccagggagagatggagtacctggaggacctggagaaactgggaagaatggtggcttt
ggccgaaggggaccccccggagctaagggcaacaagggcggtcctggccagccgggcttt
gagggagagcaggggaccagaggtgcacagggcccagctggtcctgctggtcctccaggg
ctgataggagaacaaggcatttctggacctcggggaagcggaggtgccgctggtgctcct
ggagaacgaggcagaaccggtccactgggaagaaagggtgagcccggagagccaggacca
aaaggaggaatcgggaaccggggccctcgtggggagacgggagatgacgggagagacgga
gttggcagtgaaggacgcagaggcaaaaaaggagaaagaggattccctggatacccagga
ccaaagggtaacccaggtgaacctgggctaaatggaacaacaggacccaaaggcatcaga
ggccgaaggggaaattcgggacctccagggatagttggacagaagggagaccctggctac
ccaggaccagctggtcccaagggcaacaggggcgactccatcgatcaatgtgccctcatc
caaagcatcaaagataaatgcccttgctgttacgggcccctggagtgccccgtcttccca
acagaactagcctttgctttagacacctctgagggagtcaaccaagacactttcggccgg
atgcgagatgtggtcttgagtattgtgaatgacctgaccattgctgagagcaactgccca
cggggggcccgggtggctgtggtcacctacaacaacgaggtgaccacggagatccggttt
gctgactccaagaggaagtcggtcctcctggacaagattaagaaccttcaggtggctctg
acatccaaacagcagagtctggagactgccatgtcgtttgtggccaggaacacatttaag
cgtgtgaggaacggattcctaatgaggaaagtggctgttttcttcagcaacacacccaca
agagcatccccacagctcagagaggctgtgctcaagctctcagatgcggggatcaccccc
ttgttccttacaaggcaggaagaccggcagctcatcaacgctttgcagatcaataacaca
gcagtggggcatgcgcttgtcctgcctgcagggagagacctcacagacttcctggagaat
gtcctcacgtgtcatgtttgcttggacatctgcaacatcgacccatcctgtggatttggc
agttggaggccttccttcagggacaggagagcggcagggagcgatgtggacatcgacatg
gctttcatcttagacagcgctgagaccaccaccctgttccagttcaatgagatgaagaag
tacatagcgtacctggtcagacaactggacatgagcccagatcccaaggcctcccagcac
ttcgccagagtggcagttgtgcagcacgcgccctctgagtccgtggacaatgccagcatg
ccacctgtgaaggtggaattctccctgactgactatggctccaaggagaagctggtggac
ttcctcagcaggggaatgacacagttgcagggaaccagggccttaggcagtgccattgaa
tacaccatagagaatgtctttgaaagtgccccaaacccacgggacctgaaaattgtggtc
ctgatgctgacgggcgaggtgccggagcagcagctggaggaggcccagagagtcatcctg
caggccaaatgcaagggctacttcttcgtggtcctgggcattggcaggaaggtgaacatc
aaggaggtatacaccttcgccagtgagccaaacgacgtcttcttcaaattagtggacaag
tccaccgagctcaacgaggagcctttgatgcgcttcgggaggctgttgccatccttcgtc
agcagtgaaaatgctttttacttgtccccagatatcaggaaacagtgtgattggttccaa
ggggaccaacccacaaagaaccttgtgaagtttggtcacaaacaagtaaatgttccgaat
aacgttacttcaagtcctacatccaacccagtgacgacaacgaagccggtgactacgacg
aagccggtgaccaccacaacaaagcctgtaaccaccacaacaaagcctgtgactattata
aatcagccatctgtgaagccagccgctgcaaagccggcccctgcgaaacctgtggctgcc
aagcctgtggccacaaagatggccactgttagacccccagtggcggtgaagccagcaacg
gcagcgaagcctgtagcagcaaagccagcagctgtaagaccccccgctgctgctgctgca
aaaccagtggcgaccaagcctgaggtccctaggccacaggcagccaaaccagctgccacc
aagccagccaccactaagcccatggttaagatgtcccgtgaagtccaggtgtttgagata
acagagaacagcgccaaactccactgggagagggctgagccccccggtccttatttttat
gacctcaccgtcacctcagcccatgatcagtccctggttctgaagcagaacctcacggtc
acggaccgcgtcattggaggcctgctcgctgggcagacataccatgtggctgtggtctgc
tacctgaggtctcaggtcagagccacctaccacggaagtttcagtacaaagaaatctcag
cccccacctccacagccagcaaggtcagcttctagttcaaccatcaatctaatggtgagc
acagaaccattggctctcactgaaacagatatatgcaagttgccgaaagacgaaggaact
tgcagggatttcatattaaaatggtactatgatccaaacaccaaaagctgtgcaagattc
tggtatggaggttgtggtggaaacgaaaacaaatttggatcacagaaagaatgtgaaaag
gtttgcgctcctgtgctcgccaaacccggagtcatcagtgtgatgggaacctaa

KEGG   Homo sapiens (human): 1294
Entry
1294              CDS       T01001                                 

Gene name
COL7A1, EBD1, EBDCT, EBR1, NDNC8
Definition
(RefSeq) collagen type VII alpha 1 chain
  KO
K16628  collagen type VII alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04974  Protein digestion and absorption
Disease
H00587  Epidermolysis bullosa, dysprophica
H00763  Transient bullous dermolysis of the newborn
H01307  Nonsyndromic congenital nail disorder
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    1294 (COL7A1)
SSDB
Motif
Pfam: Collagen fn3 VWA VWA_2 Pur_ac_phosph_N Kunitz_BPTI DUF4992 Interfer-bind
Other DBs
NCBI-GeneID: 1294
NCBI-ProteinID: NP_000085
OMIM: 120120
HGNC: 2214
Ensembl: ENSG00000114270
Vega: OTTHUMG00000133541
Pharos: Q02388(Tbio)
UniProt: Q02388 Q59F16
Position
3p21.31
AA seq 2944 aa
MTLRLLVAALCAGILAEAPRVRAQHRERVTCTRLYAADIVFLLDGSSSIGRSNFREVRSF
LEGLVLPFSGAASAQGVRFATVQYSDDPRTEFGLDALGSGGDVIRAIRELSYKGGNTRTG
AAILHVADHVFLPQLARPGVPKVCILITDGKSQDLVDTAAQRLKGQGVKLFAVGIKNADP
EELKRVASQPTSDFFFFVNDFSILRTLLPLVSRRVCTTAGGVPVTRPPDDSTSAPRDLVL
SEPSSQSLRVQWTAASGPVTGYKVQYTPLTGLGQPLPSERQEVNVPAGETSVRLRGLRPL
TEYQVTVIALYANSIGEAVSGTARTTALEGPELTIQNTTAHSLLVAWRSVPGATGYRVTW
RVLSGGPTQQQELGPGQGSVLLRDLEPGTDYEVTVSTLFGRSVGPATSLMARTDASVEQT
LRPVILGPTSILLSWNLVPEARGYRLEWRRETGLEPPQKVVLPSDVTRYQLDGLQPGTEY
RLTLYTLLEGHEVATPATVVPTGPELPVSPVTDLQATELPGQRVRVSWSPVPGATQYRII
VRSTQGVERTLVLPGSQTAFDLDDVQAGLSYTVRVSARVGPREGSASVLTVRREPETPLA
VPGLRVVVSDATRVRVAWGPVPGASGFRISWSTGSGPESSQTLPPDSTATDITGLQPGTT
YQVAVSVLRGREEGPAAVIVARTDPLGPVRTVHVTQASSSSVTITWTRVPGATGYRVSWH
SAHGPEKSQLVSGEATVAELDGLEPDTEYTVHVRAHVAGVDGPPASVVVRTAPEPVGRVS
RLQILNASSDVLRITWVGVTGATAYRLAWGRSEGGPMRHQILPGNTDSAEIRGLEGGVSY
SVRVTALVGDREGTPVSIVVTTPPEAPPALGTLHVVQRGEHSLRLRWEPVPRAQGFLLHW
QPEGGQEQSRVLGPELSSYHLDGLEPATQYRVRLSVLGPAGEGPSAEVTARTESPRVPSI
ELRVVDTSIDSVTLAWTPVSRASSYILSWRPLRGPGQEVPGSPQTLPGISSSQRVTGLEP
GVSYIFSLTPVLDGVRGPEASVTQTPVCPRGLADVVFLPHATQDNAHRAEATRRVLERLV
LALGPLGPQAVQVGLLSYSHRPSPLFPLNGSHDLGIILQRIRDMPYMDPSGNNLGTAVVT
AHRYMLAPDAPGRRQHVPGVMVLLVDEPLRGDIFSPIREAQASGLNVVMLGMAGADPEQL
RRLAPGMDSVQTFFAVDDGPSLDQAVSGLATALCQASFTTQPRPEPCPVYCPKGQKGEPG
EMGLRGQVGPPGDPGLPGRTGAPGPQGPPGSATAKGERGFPGADGRPGSPGRAGNPGTPG
APGLKGSPGLPGPRGDPGERGPRGPKGEPGAPGQVIGGEGPGLPGRKGDPGPSGPPGPRG
PLGDPGPRGPPGLPGTAMKGDKGDRGERGPPGPGEGGIAPGEPGLPGLPGSPGPQGPVGP
PGKKGEKGDSEDGAPGLPGQPGSPGEQGPRGPPGAIGPKGDRGFPGPLGEAGEKGERGPP
GPAGSRGLPGVAGRPGAKGPEGPPGPTGRQGEKGEPGRPGDPAVVGPAVAGPKGEKGDVG
PAGPRGATGVQGERGPPGLVLPGDPGPKGDPGDRGPIGLTGRAGPPGDSGPPGEKGDPGR
PGPPGPVGPRGRDGEVGEKGDEGPPGDPGLPGKAGERGLRGAPGVRGPVGEKGDQGDPGE
DGRNGSPGSSGPKGDRGEPGPPGPPGRLVDTGPGAREKGEPGDRGQEGPRGPKGDPGLPG
APGERGIEGFRGPPGPQGDPGVRGPAGEKGDRGPPGLDGRSGLDGKPGAAGPSGPNGAAG
KAGDPGRDGLPGLRGEQGLPGPSGPPGLPGKPGEDGKPGLNGKNGEPGDPGEDGRKGEKG
DSGASGREGRDGPKGERGAPGILGPQGPPGLPGPVGPPGQGFPGVPGGTGPKGDRGETGS
KGEQGLPGERGLRGEPGSVPNVDRLLETAGIKASALREIVETWDESSGSFLPVPERRRGP
KGDSGEQGPPGKEGPIGFPGERGLKGDRGDPGPQGPPGLALGERGPPGPSGLAGEPGKPG
IPGLPGRAGGVGEAGRPGERGERGEKGERGEQGRDGPPGLPGTPGPPGPPGPKVSVDEPG
PGLSGEQGPPGLKGAKGEPGSNGDQGPKGDRGVPGIKGDRGEPGPRGQDGNPGLPGERGM
AGPEGKPGLQGPRGPPGPVGGHGDPGPPGAPGLAGPAGPQGPSGLKGEPGETGPPGRGLT
GPTGAVGLPGPPGPSGLVGPQGSPGLPGQVGETGKPGAPGRDGASGKDGDRGSPGVPGSP
GLPGPVGPKGEPGPTGAPGQAVVGLPGAKGEKGAPGGLAGDLVGEPGAKGDRGLPGPRGE
KGEAGRAGEPGDPGEDGQKGAPGPKGFKGDPGVGVPGSPGPPGPPGVKGDLGLPGLPGAP
GVVGFPGQTGPRGEMGQPGPSGERGLAGPPGREGIPGPLGPPGPPGSVGPPGASGLKGDK
GDPGVGLPGPRGERGEPGIRGEDGRPGQEGPRGLTGPPGSRGERGEKGDVGSAGLKGDKG
DSAVILGPPGPRGAKGDMGERGPRGLDGDKGPRGDNGDPGDKGSKGEPGDKGSAGLPGLR
GLLGPQGQPGAAGIPGDPGSPGKDGVPGIRGEKGDVGFMGPRGLKGERGVKGACGLDGEK
GDKGEAGPPGRPGLAGHKGEMGEPGVPGQSGAPGKEGLIGPKGDRGFDGQPGPKGDQGEK
GERGTPGIGGFPGPSGNDGSAGPPGPPGSVGPRGPEGLQGQKGERGPPGERVVGAPGVPG
APGERGEQGRPGPAGPRGEKGEAALTEDDIRGFVRQEMSQHCACQGQFIASGSRPLPSYA
ADTAGSQLHAVPVLRVSHAEEEERVPPEDDEYSEYSEYSVEEYQDPEAPWDSDDPCSLPL
DEGSCTAYTLRWYHRAVTGSTEACHPFVYGGCGGNANRFGTREACERRCPPRVVQSQGTG
TAQD
NT seq 8835 nt   +upstreamnt  +downstreamnt
atgacgctgcggcttctggtggccgcgctctgcgccgggatcctggcagaggcgccccga
gtgcgagcccagcacagggagagagtgacctgcacgcgcctttacgccgctgacattgtg
ttcttactggatggctcctcatccattggccgcagcaatttccgcgaggtccgcagcttt
ctcgaagggctggtgctgcctttctctggagcagccagtgcacagggtgtgcgctttgcc
acagtgcagtacagcgatgacccacggacagagttcggcctggatgcacttggctctggg
ggtgatgtgatccgcgccatccgtgagcttagctacaaggggggcaacactcgcacaggg
gctgcaattctccatgtggctgaccatgtcttcctgccccagctggcccgacctggtgtc
cccaaggtctgcatcctgatcacagacgggaagtcccaggacctggtggacacagctgcc
caaaggctgaaggggcagggggtcaagctatttgctgtggggatcaagaatgctgaccct
gaggagctgaagcgagttgcctcacagcccaccagtgacttcttcttcttcgtcaatgac
ttcagcatcttgaggacactactgcccctcgtttcccggagagtgtgcacgactgctggt
ggcgtgcctgtgacccgacctccggatgactcgacctctgctccacgagacctggtgctg
tctgagccaagcagccaatccttgagagtacagtggacagcggccagtggccctgtgact
ggctacaaggtccagtacactcctctgacggggctgggacagccactgccgagtgagcgg
caggaggtgaacgtcccagctggtgagaccagtgtgcggctgcggggtctccggccactg
accgagtaccaagtgactgtgattgccctctacgccaacagcatcggggaggctgtgagc
gggacagctcggaccactgccctagaagggccggaactgaccatccagaataccacagcc
cacagcctcctggtggcctggcggagtgtgccaggtgccactggctaccgtgtgacatgg
cgggtcctcagtggtgggcccacacagcagcaggagctgggccctgggcagggttcagtg
ttgctgcgtgacttggagcctggcacggactatgaggtgaccgtgagcaccctatttggc
cgcagtgtggggcccgccacttccctgatggctcgcactgacgcttctgttgagcagacc
ctgcgcccggtcatcctgggccccacatccatcctcctttcctggaacttggtgcctgag
gcccgtggctaccggttggaatggcggcgtgagactggcttggagccaccgcagaaggtg
gtactgccctctgatgtgacccgctaccagttggatgggctgcagccgggcactgagtac
cgcctcacactctacactctgctggagggccacgaggtggccacccctgcaaccgtggtt
cccactggaccagagctgcctgtgagccctgtaacagacctgcaagccaccgagctgccc
gggcagcgggtgcgagtgtcctggagcccagtccctggtgccacccagtaccgcatcatt
gtgcgcagcacccagggggttgagcggaccctggtgcttcctgggagtcagacagcattc
gacttggatgacgttcaggctgggcttagctacactgtgcgggtgtctgctcgagtgggt
ccccgtgagggcagtgccagtgtcctcactgtccgccgggagccggaaactccacttgct
gttccagggctgcgggttgtggtgtcagatgcaacgcgagtgagggtggcctggggaccc
gtccctggagccagtggatttcggattagctggagcacaggcagtggtccggagtccagc
cagacactgcccccagactctactgccacagacatcacagggctgcagcctggaaccacc
taccaggtggctgtgtcggtactgcgaggcagagaggagggccctgctgcagtcatcgtg
gctcgaacggacccactgggcccagtgaggacggtccatgtgactcaggccagcagctca
tctgtcaccattacctggaccagggttcctggcgccacaggatacagggtttcctggcac
tcagcccacggcccagagaaatcccagttggtttctggggaggccacggtggctgagctg
gatggactggagccagatactgagtatacggtgcatgtgagggcccatgtggctggcgtg
gatgggccccctgcctctgtggttgtgaggactgcccctgagcctgtgggtcgtgtgtcg
aggctgcagatcctcaatgcttccagcgacgttctacggatcacctgggtaggggtcact
ggagccacagcttacagactggcctggggccggagtgaaggcggccccatgaggcaccag
atactcccaggaaacacagactctgcagagatccggggtctcgaaggtggagtcagctac
tcagtgcgagtgactgcacttgtcggggaccgcgagggcacacctgtctccattgttgtc
actacgccgcctgaggctccgccagccctggggacgcttcacgtggtgcagcgcggggag
cactcgctgaggctgcgctgggagccggtgcccagagcgcagggcttccttctgcactgg
caacctgagggtggccaggaacagtcccgggtcctggggcccgagctcagcagctatcac
ctggacgggctggagccagcgacacagtaccgcgtgaggctgagtgtcctagggccagct
ggagaagggccctctgcagaggtgactgcgcgcactgagtcacctcgtgttccaagcatt
gaactacgtgtggtggacacctcgatcgactcggtgactttggcctggactccagtgtcc
agggcatccagctacatcctatcctggcggccactcagaggccctggccaggaagtgcct
gggtccccgcagacacttccagggatctcaagctcccagcgggtgacagggctagagcct
ggcgtctcttacatcttctccctgacgcctgtcctggatggtgtgcggggtcctgaggca
tctgtcacacagacgccagtgtgcccccgtggcctggcggatgtggtgttcctaccacat
gccactcaagacaatgctcaccgtgcggaggctacgaggagggtcctggagcgtctggtg
ttggcacttgggcctcttgggccacaggcagttcaggttggcctgctgtcttacagtcat
cggccctccccactgttcccactgaatggctcccatgaccttggcattatcttgcaaagg
atccgtgacatgccctacatggacccaagtgggaacaacctgggcacagccgtggtcaca
gctcacagatacatgttggcaccagatgctcctgggcgccgccagcacgtaccaggggtg
atggttctgctagtggatgaacccttgagaggtgacatattcagccccatccgtgaggcc
caggcttctgggcttaatgtggtgatgttgggaatggctggagcggacccagagcagctg
cgtcgcttggcgccgggtatggactctgtccagaccttcttcgccgtggatgatgggcca
agcctggaccaggcagtcagtggtctggccacagccctgtgtcaggcatccttcactact
cagccccggccagagccctgcccagtgtattgtccaaagggccagaagggggaacctgga
gagatgggcctgagaggacaagttgggcctcctggcgaccctggcctcccgggcaggacc
ggtgctcccggcccccaggggccccctggaagtgccactgccaagggcgagaggggcttc
cctggagcagatgggcgtccaggcagccctggccgcgccgggaatcctgggacccctgga
gcccctggcctaaagggctctccagggttgcctggccctcgtggggacccgggagagcga
ggacctcgaggcccaaagggggagccgggggctcccggacaagtcatcggaggtgaagga
cctgggcttcctgggcggaaaggggaccctggaccatcgggcccccctggacctcgtgga
ccactgggggacccaggaccccgtggccccccagggcttcctggaacagccatgaagggt
gacaaaggcgatcgtggggagcggggtccccctggaccaggtgaaggtggcattgctcct
ggggagcctgggctgccgggtcttcccggaagccctggaccccaaggccccgttggcccc
cctggaaagaaaggagaaaaaggtgactctgaggatggagctccaggcctcccaggacaa
cctgggtctccgggtgagcagggcccacggggacctcctggagctattggccccaaaggt
gaccggggctttccagggcccctgggtgaggctggagagaagggcgaacgtggaccccca
ggcccagcgggatcccgggggctgccaggggttgctggacgtcctggagccaagggtcct
gaagggccaccaggacccactggccgccaaggagagaagggggagcctggtcgccctggg
gaccctgcagtggtgggacctgctgttgctggacccaaaggagaaaagggagatgtgggg
cccgctgggcccagaggagctaccggagtccaaggggaacggggcccacccggcttggtt
cttcctggagaccctggccccaagggagaccctggagaccggggtcccattggccttact
ggcagagcaggacccccaggtgactcagggcctcctggagagaagggagaccctgggcgg
cctggccccccaggacctgttggcccccgaggacgagatggtgaagttggagagaaaggt
gacgagggtcctccgggtgacccgggtttgcctggaaaagcaggcgagcgtggccttcgg
ggggcacctggagttcgggggcctgtgggtgaaaagggagaccagggagatcctggagag
gatggacgaaatggcagccctggatcatctggacccaagggtgaccgtggggagccgggt
cccccaggacccccgggacggctggtagacacaggacctggagccagagagaagggagag
cctggggaccgcggacaagagggtcctcgagggcccaagggtgatcctggcctccctgga
gcccctggggaaaggggcattgaagggtttcggggacccccaggcccacagggggaccca
ggtgtccgaggcccagcaggagaaaagggtgaccggggtccccctgggctggatggccgg
agcggactggatgggaaaccaggagccgctgggccctctgggccgaatggtgctgcaggc
aaagctggggacccagggagagacgggcttccaggcctccgtggagaacagggcctccct
ggcccctctggtccccctggattaccgggaaagccaggcgaggatggcaaacctggcctg
aatggaaaaaacggagaacctggggaccctggagaagacgggaggaagggagagaaagga
gattcaggcgcctctgggagagaaggtcgtgatggccccaagggtgagcgtggagctcct
ggtatccttggaccccaggggcctccaggcctcccagggccagtgggccctcctggccag
ggttttcctggtgtcccaggaggcacgggccccaagggtgaccgtggggagactggatcc
aaaggggagcagggcctccctggagagcgtggcctgcgaggagagcctggaagtgtgccg
aatgtggatcggttgctggaaactgctggcatcaaggcatctgccctgcgggagatcgtg
gagacctgggatgagagctctggtagcttcctgcctgtgcccgaacggcgtcgaggcccc
aagggggactcaggcgaacagggccccccaggcaaggagggccccatcggctttcctgga
gaacgcgggctgaagggcgaccgtggagaccctggccctcaggggccacctggtctggcc
cttggggagaggggcccccccgggccttccggccttgccggggagcctggaaagcctggt
attcccgggctcccaggcagggctgggggtgtgggagaggcaggaaggccaggagagagg
ggagaacggggagagaaaggagaacgtggagaacagggcagagatggccctcctggactc
cctggaacccctgggccccccggaccccctggccccaaggtgtctgtggatgagccaggt
cctggactctctggagaacagggaccccctggactcaagggtgctaagggggagccgggc
agcaatggtgaccaaggtcccaaaggagacaggggtgtgccaggcatcaaaggagaccgg
ggagagcctggaccgaggggtcaggacggcaacccgggtctaccaggagagcgtggtatg
gctgggcctgaagggaagccgggtctgcagggtccaagaggcccccctggcccagtgggt
ggtcatggagaccctggaccacctggtgccccgggtcttgctggccctgcaggaccccaa
ggaccttctggcctgaagggggagcctggagagacaggacctccaggacggggcctgact
ggacctactggagctgtgggacttcctggaccccccggcccttcaggccttgtgggtcca
caggggtctccaggtttgcctggacaagtgggggagacagggaagccgggagccccaggt
cgagatggtgccagtggaaaagatggagacagagggagccctggtgtgccagggtcacca
ggtctgcctggccctgtcggacctaaaggagaacctggccccacgggggcccctggacag
gctgtggtcgggctccctggagcaaagggagagaagggagcccctggaggccttgctgga
gacctggtgggtgagccgggagccaaaggtgaccgaggactgccagggccgcgaggcgag
aagggtgaagctggccgtgcaggggagcccggagaccctggggaagatggtcagaaaggg
gctccaggacccaaaggtttcaagggtgacccaggagtcggggtcccgggctcccctggg
cctcctggccctccaggtgtgaagggagatctgggcctccctggcctgcccggtgctcct
ggtgttgttgggttcccgggtcagacaggccctcgaggagagatgggtcagccaggccct
agtggagagcggggtctggcaggccccccagggagagaaggaatcccaggacccctgggg
ccacctggaccaccggggtcagtgggaccacctggggcctctggactcaaaggagacaag
ggagaccctggagtagggctgcctgggccccgaggcgagcgtggggagccaggcatccgg
ggtgaagatggccgccccggccaggagggaccccgaggactcacggggccccctggcagc
aggggagagcgtggggagaagggtgatgttgggagtgcaggactaaagggtgacaaggga
gactcagctgtgatcctggggcctccaggcccacggggtgccaagggggacatgggtgaa
cgagggcctcggggcttggatggtgacaaaggacctcggggagacaatggggaccctggt
gacaagggcagcaagggagagcctggtgacaagggctcagccgggttgccaggactgcgt
ggactcctgggaccccagggtcaacctggtgcagcagggatccctggtgacccgggatcc
ccaggaaaggatggagtgcctggtatccgaggagaaaaaggagatgttggcttcatgggt
ccccggggcctcaagggtgaacggggagtgaagggagcctgtggccttgatggagagaag
ggagacaagggagaagctggtcccccaggccgccccgggctggcaggacacaaaggagag
atgggggagcctggtgtgccgggccagtcgggggcccctggcaaggagggcctgatcggt
cccaagggtgaccgaggctttgacgggcagccaggccccaagggtgaccagggcgagaaa
ggggagcggggaaccccaggaattgggggcttcccaggccccagtggaaatgatggctct
gctggtcccccagggccacctggcagtgttggtcccagaggccccgaaggacttcagggc
cagaagggtgagcgaggtccccccggagagagagtggtgggggctcctggggtccctgga
gctcctggcgagagaggggagcaggggcggccagggcctgccggtcctcgaggcgagaag
ggagaagctgcactgacggaggatgacatccggggctttgtgcgccaagagatgagtcag
cactgtgcctgccagggccagttcatcgcatctggatcacgacccctccctagttatgct
gcagacactgccggctcccagctccatgctgtgcctgtgctccgcgtctctcatgcagag
gaggaagagcgggtaccccctgaggatgatgagtactctgaatactccgagtattctgtg
gaggagtaccaggaccctgaagctccttgggatagtgatgacccctgttccctgccactg
gatgagggctcctgcactgcctacaccctgcgctggtaccatcgggctgtgacaggcagc
acagaggcctgtcacccttttgtctatggtggctgtggagggaatgccaaccgttttggg
acccgtgaggcctgcgagcgccgctgcccaccccgggtggtccagagccaggggacaggt
actgcccaggactga

KEGG   Homo sapiens (human): 1297
Entry
1297              CDS       T01001                                 

Gene name
COL9A1, DJ149L1.1.2, EDM6, MED, STL4
Definition
(RefSeq) collagen type IX alpha 1 chain
  KO
K08131  collagen type IX alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04974  Protein digestion and absorption
hsa05165  Human papillomavirus infection
Disease
H00476  Multiple epiphyseal dysplasia
H02072  Stickler syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04151 PI3K-Akt signaling pathway
    1297 (COL9A1)
  09133 Signaling molecules and interaction
   04512 ECM-receptor interaction
    1297 (COL9A1)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04510 Focal adhesion
    1297 (COL9A1)
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    1297 (COL9A1)
 09160 Human Diseases
  09172 Infectious disease: viral
   05165 Human papillomavirus infection
    1297 (COL9A1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   00535 Proteoglycans [BR:hsa00535]
    1297 (COL9A1)
Proteoglycans [BR:hsa00535]
 Extracellular matrix (ECM) proteoglycans
  Collagen family
   1297 (COL9A1)
SSDB
Motif
Pfam: Collagen Laminin_G_2 Laminin_G_3 Toxin_R_bind_N
Other DBs
NCBI-GeneID: 1297
NCBI-ProteinID: NP_001842
OMIM: 120210
HGNC: 2217
Ensembl: ENSG00000112280
Vega: OTTHUMG00000014988
Pharos: P20849(Tbio)
UniProt: P20849
Structure
PDB: 
2UUR

Position
6q13
AA seq 921 aa
MKTCWKIPVFFFVCSFLEPWASAAVKRRPRFPVNSNSNGGNELCPKIRIGQDDLPGFDLI
SQFQVDKAASRRAIQRVVGSATLQVAYKLGNNVDFRIPTRNLYPSGLPEEYSFLTTFRMT
GSTLKKNWNIWQIQDSSGKEQVGIKINGQTQSVVFSYKGLDGSLQTAAFSNLSSLFDSQW
HKIMIGVERSSATLFVDCNRIESLPIKPRGPIDIDGFAVLGKLADNPQVSVPFELQWMLI
HCDPLRPRRETCHELPARITPSQTTDERGPPGEQGPPGPPGPPGVPGIDGIDGDRGPKGP
PGPPGPAGEPGKPGAPGKPGTPGADGLTGPDGSPGSIGSKGQKGEPGVPGSRGFPGRGIP
GPPGPPGTAGLPGELGRVGPVGDPGRRGPPGPPGPPGPRGTIGFHDGDPLCPNACPPGRS
GYPGLPGMRGHKGAKGEIGEPGRQGHKGEEGDQGELGEVGAQGPPGAQGLRGITGIVGDK
GEKGARGLDGEPGPQGLPGAPGDQGQRGPPGEAGPKGDRGAEGARGIPGLPGPKGDTGLP
GVDGRDGIPGMPGTKGEPGKPGPPGDAGLQGLPGVPGIPGAKGVAGEKGSTGAPGKPGQM
GNSGKPGQQGPPGEVGPRGPQGLPGSRGELGPVGSPGLPGKLGSLGSPGLPGLPGPPGLP
GMKGDRGVVGEPGPKGEQGASGEEGEAGERGELGDIGLPGPKGSAGNPGEPGLRGPEGSR
GLPGVEGPRGPPGPRGVQGEQGATGLPGVQGPPGRAPTDQHIKQVCMRVIQEHFAEMAAS
LKRPDSGATGLPGRPGPPGPPGPPGENGFPGQMGIRGLPGIKGPPGALGLRGPKGDLGEK
GERGPPGRGPNGLPGAIGLPGDPGPASYGRNGRDGERGPPGVAGIPGVPGPPGPPGLPGF
CEPASCTMQAGQRAFNKGPDP
NT seq 2766 nt   +upstreamnt  +downstreamnt
atgaagacctgctggaaaattccagttttcttctttgtgtgcagtttcctggaaccctgg
gcatctgcagctgtcaagcgtcgccccagattccctgtcaattccaattctaatggtgga
aatgaactctgtccaaagatcaggattggccaagatgacttaccagggtttgatctgatc
tctcagttccaggtagataaagcagcatctagaagagctatccagagagtagtgggatca
gctacattgcaggtggcttacaagttgggaaataatgtagacttcaggattccaactagg
aatttatatcccagtggactgcctgaagaatactccttcttgacgacgtttcgaatgact
ggaagcactctcaaaaagaactggaacatttggcagattcaggattcctctgggaaggag
caagttggcataaagattaatggccaaacacaatctgttgtattttcatacaagggactg
gatggaagtctccaaacagcagccttttcgaatttgtcctccttgtttgattcccagtgg
cataagatcatgattggcgtggagaggagtagtgctactctttttgttgactgcaacagg
attgaatctttacctataaagccaagaggcccaattgacattgatggctttgctgtgctg
ggaaaacttgcagataatcctcaagtttctgttccatttgaacttcaatggatgctgatc
cattgtgaccccctgcggcccaggagagaaacttgccatgagctgccagccagaataacg
cccagccagaccaccgacgagagaggtcccccgggtgagcagggtcctcccgggcctccg
ggcccccctggagttccaggcatcgatggcatcgacggtgaccgaggtcctaagggcccc
ccgggccccccgggtcctgcaggtgaaccgggaaagccaggagctccaggcaagcctggc
acacctggcgctgatggattaacaggacctgatggatcccctggctccattgggtcaaag
ggacaaaaaggagaacctggtgtgcctggatcgcgtggatttccaggccgtggtattcct
ggaccccctggtcctcctgggacagcaggactccctggagagcttggccgtgtaggacct
gttggtgaccctgggagaagaggaccacctggcccccctggccccccaggacccagagga
acaattggctttcatgatggagatccattgtgtcccaatgcctgtccaccaggtcgctca
ggatatccaggcctaccaggcatgaggggtcataaaggggctaaaggagaaattggtgaa
ccaggaagacaaggacacaagggtgaagaaggtgaccagggagaactcggagaagttgga
gctcaaggacctccaggagcccagggtttgcgaggcatcaccggcatagttggggacaaa
ggggaaaaaggtgctcggggcttagatggtgaacctgggcctcagggtcttcctggtgca
cctggtgatcaaggacagcgaggacctccaggagaagcaggtcccaaaggagatagaggg
gctgaaggtgctagaggaattcctggtctccctgggcccaaaggagacacgggtttgcca
ggtgtggatggccgtgatgggatccctggaatgcctggaacaaagggtgaaccaggaaaa
cctgggcctcctggtgatgcaggattgcaggggttaccaggtgtacctggaattcctggt
gcaaagggtgttgctggtgaaaagggtagcacaggtgctccagggaagcctggtcagatg
ggaaattcaggcaaaccgggccaacaggggcctccaggagaggtgggaccccgaggaccc
caggggcttcctggcagtagaggagaattaggaccagtgggatccccaggcctaccaggt
aaactgggttctctgggtagccctggcctccctggcttgcctgggccccctggacttcct
ggaatgaaaggtgacaggggtgtagtcggtgaaccgggtccaaagggtgaacagggtgcc
tctggtgaagaaggtgaagcaggagaaaggggggaacttggagatataggattacctggc
ccaaagggatctgcaggtaatcctggggaacctggcttgagagggcctgagggaagtcgg
gggcttcctggagtggaaggaccaagaggaccacctggaccccggggtgtgcagggagaa
cagggtgccaccggcctgcctggtgtccagggccctccgggtagagcaccgacagatcag
cacattaagcaggtttgcatgagagtcatacaagaacattttgctgagatggctgccagt
cttaagcgtccagactcaggtgccactgggcttcctggaaggcctggccctcctggtccc
cccggccctcctggagagaatggtttcccaggccagatgggaattcgtggccttccgggc
attaaggggccccctggtgctcttggtttgaggggacctaaaggtgacttgggagaaaag
ggggagcgtggccctccaggaagaggtcccaacggtttgcctggagctataggtctccca
ggtgacccaggccctgccagctatggcagaaatggccgagacggtgagcgaggcccccca
ggggtggcaggaattcctggagtgcctggacccccgggacctcctgggcttcccggtttc
tgtgagccagcctcctgcaccatgcaggctggtcagcgagcatttaacaaagggcctgac
ccttga

KEGG   Homo sapiens (human): 1298
Entry
1298              CDS       T01001                                 

Gene name
COL9A2, DJ39G22.4, EDM2, MED, STL5
Definition
(RefSeq) collagen type IX alpha 2 chain
  KO
K08131  collagen type IX alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04974  Protein digestion and absorption
hsa05165  Human papillomavirus infection
Disease
H00476  Multiple epiphyseal dysplasia
H02072  Stickler syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04151 PI3K-Akt signaling pathway
    1298 (COL9A2)
  09133 Signaling molecules and interaction
   04512 ECM-receptor interaction
    1298 (COL9A2)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04510 Focal adhesion
    1298 (COL9A2)
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    1298 (COL9A2)
 09160 Human Diseases
  09172 Infectious disease: viral
   05165 Human papillomavirus infection
    1298 (COL9A2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   00535 Proteoglycans [BR:hsa00535]
    1298 (COL9A2)
Proteoglycans [BR:hsa00535]
 Extracellular matrix (ECM) proteoglycans
  Collagen family
   1298 (COL9A2)
SSDB
Motif
Pfam: Collagen
Other DBs
NCBI-GeneID: 1298
NCBI-ProteinID: NP_001843
OMIM: 120260
HGNC: 2218
Ensembl: ENSG00000049089
Vega: OTTHUMG00000005761
Pharos: Q14055(Tbio)
UniProt: Q14055
Position
1p34.2
AA seq 689 aa
MAAATASPRSLLVLLQVVVLALAQIRGPPGERGPPGPPGPPGVPGSDGIDGDNGPPGKAG
PPGPKGEPGKAGPDGPDGKPGIDGLTGAKGEPGPMGIPGVKGQPGLPGPPGLPGPGFAGP
PGPPGPVGLPGEIGIRGPKGDPGPDGPSGPPGPPGKPGRPGTIQGLEGSADFLCPTNCPP
GMKGPPGLQGVKGHAGKRGILGDPGHQGKPGPKGDVGASGEQGIPGPPGPQGIRGYPGMA
GPKGETGPHGYKGMVGAIGATGPPGEEGPRGPPGRAGEKGDEGSPGIRGPQGITGPKGAT
GPPGINGKDGTPGTPGMKGSAGQAGQPGSPGHQGLAGVPGQPGTKGGPGDQGEPGPQGLP
GFSGPPGKEGEPGPRGEIGPQGIMGQKGDQGERGPVGQPGPQGRQGPKGEQGPPGIPGPQ
GLPGVKGDKGSPGKTGPRGKVGDPGVAGLPGEKGEKGESGEPGPKGQQGVRGEPGYPGPS
GDAGAPGVQGYPGPPGPRGLAGNRGVPGQPGRQGVEGRDATDQHIVDVALKMLQEQLAEV
AVSAKREALGAVGMMGPPGPPGPPGYPGKQGPHGHPGPRGVPGIVGAVGQIGNTGPKGKR
GEKGDPGEVGRGHPGMPGPPGIPGLPGRPGQAINGKDGDRGSPGAPGEAGRPGLPGPVGL
PGFCEPAACLGASAYASARLTEPGSIKGP
NT seq 2070 nt   +upstreamnt  +downstreamnt
atggccgccgctacggcctccccccgcagcctccttgttctcctccaggtggtagtgctc
gctctggcgcagattagaggtccaccgggagagcggggccccccgggtcccccgggaccg
ccgggagtgcctggatccgacggcatcgacggtgacaatgggccccctggaaaagctggc
cctccgggacccaagggcgagcctggcaaagctgggccagatgggccagacgggaagccc
gggattgatggtttaactggagccaagggggagcctggccccatggggatccctggagtc
aagggccagcccgggcttcctggtcctcctggccttccgggccctggttttgctggacct
cctgggcctcctggacctgttggcctccctggtgagattggaatccgaggccccaagggg
gaccctggaccagatggaccatcggggcccccaggaccccctgggaaacctggtcgcccg
ggaaccatccagggtctggaaggcagtgcggatttcctgtgtccaaccaactgtccaccc
ggaatgaaaggtcccccagggctgcagggagtgaaggggcatgcgggcaaacgcgggatt
ctgggtgatcctggccaccaggggaagccgggtcccaagggagatgtgggtgcctctgga
gagcaaggcatccctggaccaccgggtccccagggcatcaggggctacccaggcatggca
gggcccaagggagagacgggccctcatggatataaaggcatggtgggcgctatcggtgcc
actgggccaccgggtgaggaaggtcctaggggaccgccaggccgagctggggagaagggt
gacgagggcagcccaggtattcgtggaccccaggggatcacaggcccgaaaggagcaacg
ggccccccaggcatcaacggcaaggatgggaccccaggcacgcctggcatgaagggcagt
gcaggacaggcgggacagcccggaagtccaggccaccagggcctagcgggtgtgccaggc
cagcctgggacaaaaggaggccctggagaccagggtgagccgggcccgcagggccttcct
ggattctctggtccccctgggaaagagggagagccagggcctcgaggagaaattggtccc
cagggcatcatgggacagaagggtgaccaaggcgagaggggtccagtggggcaaccaggc
cctcagggaaggcagggccctaagggggagcagggcccccccggaattccagggccccaa
ggcttgccaggcgtcaaaggagacaagggctccccagggaagaccgggccccgcggcaaa
gtgggtgacccaggggtggccggcctccccggagagaaaggcgagaagggcgagtccggc
gagccggggcccaagggacagcaaggagtacgtggagaacccggctaccctggccccagc
ggggatgcgggcgccccaggggttcagggctaccctggtccccccggccctcgaggactg
gccgggaaccgaggcgtgccaggacagcccgggagacagggcgtggagggccgggatgcc
actgaccagcacatcgtggatgtggcgctgaagatgctgcaagagcaactggcagaggtc
gccgtgagtgccaagcgggaagccctgggtgcggtgggcatgatgggtcctccaggacct
cctgggccccctgggtacccaggcaagcagggcccccatgggcaccctggccctcggggc
gttcctggcatcgtgggagccgtgggtcagatcggcaacacggggcccaagggaaaacgt
ggagagaagggtgatccaggagaagtgggacgggggcaccccgggatgcctgggccccca
gggatcccaggactccctggccggcctggccaggcaatcaacggcaaggatggagatcga
gggtccccaggggctccaggagaggcaggtcgacctggcctgccaggccccgtggggctg
ccgggcttctgtgaacctgccgcctgccttggagcttcggcctatgcctctgcccgcctt
acagagcctggatccatcaaggggccttga

KEGG   Homo sapiens (human): 1299
Entry
1299              CDS       T01001                                 

Gene name
COL9A3, DJ885L7.4.1, EDM3, IDD, MED
Definition
(RefSeq) collagen type IX alpha 3 chain
  KO
K08131  collagen type IX alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04974  Protein digestion and absorption
hsa05165  Human papillomavirus infection
Disease
H00476  Multiple epiphyseal dysplasia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04151 PI3K-Akt signaling pathway
    1299 (COL9A3)
  09133 Signaling molecules and interaction
   04512 ECM-receptor interaction
    1299 (COL9A3)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04510 Focal adhesion
    1299 (COL9A3)
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    1299 (COL9A3)
 09160 Human Diseases
  09172 Infectious disease: viral
   05165 Human papillomavirus infection
    1299 (COL9A3)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   00535 Proteoglycans [BR:hsa00535]
    1299 (COL9A3)
Proteoglycans [BR:hsa00535]
 Extracellular matrix (ECM) proteoglycans
  Collagen family
   1299 (COL9A3)
SSDB
Motif
Pfam: Collagen
Other DBs
NCBI-GeneID: 1299
NCBI-ProteinID: NP_001844
OMIM: 120270
HGNC: 2219
Ensembl: ENSG00000092758
Vega: OTTHUMG00000032938
Pharos: Q14050(Tbio)
UniProt: Q14050
Position
20q13.33
AA seq 684 aa
MAGPRACAPLLLLLLLGELLAAAGAQRVGLPGPPGPPGPPGKPGQDGIDGEAGPPGLPGP
PGPKGAPGKPGKPGEAGLPGLPGVDGLTGRDGPPGPKGAPGERGSLGPPGPPGLGGKGLP
GPPGEAGVSGPPGGIGLRGPPGPSGLPGLPGPPGPPGPPGHPGVLPEGATDLQCPSICPP
GPPGPPGMPGFKGPTGYKGEQGEVGKDGEKGDPGPPGPAGLPGSVGLQGPRGLRGLPGPL
GPPGDRGPIGFRGPPGIPGAPGKAGDRGERGPEGFRGPKGDLGRPGPKGTPGVAGPSGEP
GMPGKDGQNGVPGLDGQKGEAGRNGAPGEKGPNGLPGLPGRAGSKGEKGERGRAGELGEA
GPSGEPGVPGDAGMPGERGEAGHRGSAGALGPQGPPGAPGVRGFQGQKGSMGDPGLPGPQ
GLRGDVGDRGPGGAAGPKGDQGIAGSDGLPGDKGELGPSGLVGPKGESGSRGELGPKGTQ
GPNGTSGVQGVPGPPGPLGLQGVPGVPGITGKPGVPGKEASEQRIRELCGGMISEQIAQL
AAHLRKPLAPGSIGRPGPAGPPGPPGPPGSIGHPGARGPPGYRGPTGELGDPGPRGNQGD
RGDKGAAGAGLDGPEGDQGPQGPQGVPGTSKDGQDGAPGEPGPPGDPGLPGAIGAQGTPG
ICDTSACQGAVLGGVGEKSGSRSS
NT seq 2055 nt   +upstreamnt  +downstreamnt
atggccgggccgcgcgcgtgcgccccgctcctgctcctgctcctgctcggggagcttctg
gcggccgccggggcgcagagagtgggactccccggcccccccggccccccagggccgccc
gggaagcccggccaggacggcattgacggagaagctggtcctccaggtctgcctgggccc
ccgggaccaaagggggccccaggaaagccggggaaaccaggagaggctgggctgccggga
ctgccgggtgtggatggtctgactggacgagatggaccccctggacccaagggtgcccct
ggggaacggggaagtctgggacccccggggccgcccgggctggggggcaaaggcctccct
ggaccccccggagaggcaggagtgagcggccccccaggtgggatcggcctccgcggcccc
ccgggaccttctggactccccggcctccctggtcccccaggacctcccggaccccctgga
cacccaggagtcctccctgaaggcgctactgaccttcagtgcccaagtatctgcccgcca
ggtcccccagggccccctggaatgccagggttcaagggacccactggctacaaaggcgag
cagggggaagtcggcaaggacggcgagaagggtgaccctggcccccctgggcccgccggc
ctcccgggcagcgtggggctgcagggcccccggggattacgaggactgccagggccactc
gggccccctggggaccggggtcccattgggttccgagggccgcctgggatcccaggagcg
cctgggaaagcgggtgaccgaggcgagaggggcccagaagggttccgcggccccaagggt
gacctcggcagacctggtcccaagggaacccccggagtggccgggccaagcggagagccg
ggcatgccgggcaaggacggccagaatggcgtgccaggactcgatggccagaagggagag
gctggtcgcaacggtgctccgggagagaagggccccaacgggctgccgggcctccctgga
cgagcggggtccaaaggcgagaagggagaacggggcagagctggggagctgggtgaggcc
ggcccctctggagagccaggcgtccctggagatgctggcatgcctggggagcgcggtgag
gctggccaccggggctcagcgggggccctcggcccacaaggccctcccggagcccctggt
gtccgaggcttccagggccagaagggcagcatgggagaccccggccttccaggcccccag
ggcctccgaggtgacgtgggcgaccggggtccgggaggtgccgcaggccctaagggagac
cagggtattgcaggttccgacggtcttcctggggataaaggagaactgggtcccagcggc
ctggtcggacccaaaggagagtctggcagtcgaggggagctgggccccaaaggcacccag
ggtcccaacggcaccagcggtgttcagggtgtccccgggccccccggtcctctgggcctg
cagggcgtcccgggtgttcctggcatcacggggaagccgggagttccggggaaggaggcc
agcgagcagcgcatcagggagctgtgtggggggatgatcagcgaacaaattgcacagtta
gccgcgcacctaaggaagcctttggcacccgggtccattggtcggcccggtccagctggc
ccccctgggcccccaggacccccaggctccattggtcaccctggcgctcgaggaccccct
ggataccgcggtcccactggggagctgggagaccccgggcccagaggaaaccagggtgac
agaggagacaaaggcgcggcaggagcagggctggacgggcctgaaggagaccaggggccc
caaggaccccaaggcgtgcccggcaccagcaaggacggccaggacggtgctcccggcgag
cctgggcctcccggagatcctgggcttccaggtgccattggggcccaggggacaccgggg
atctgcgacacctcagcctgccaaggagccgtgttaggaggggtcggggagaaatcaggc
tctcgaagctcataa

KEGG   Homo sapiens (human): 1300
Entry
1300              CDS       T01001                                 

Gene name
COL10A1
Definition
(RefSeq) collagen type X alpha 1 chain
  KO
K19479  collagen type X alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04974  Protein digestion and absorption
Disease
H00479  Metaphyseal dysplasias
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    1300 (COL10A1)
SSDB
Motif
Pfam: Collagen C1q BclA_C
Other DBs
NCBI-GeneID: 1300
NCBI-ProteinID: NP_000484
OMIM: 120110
HGNC: 2185
Ensembl: ENSG00000123500
Vega: OTTHUMG00000015426
Pharos: Q03692(Tbio)
UniProt: Q03692 A0A650AXN9
Structure
PDB: 
1GR3

Position
6q22.1
AA seq 680 aa
MLPQIPFLLLVSLNLVHGVFYAERYQMPTGIKGPLPNTKTQFFIPYTIKSKGIAVRGEQG
TPGPPGPAGPRGHPGPSGPPGKPGYGSPGLQGEPGLPGPPGPSAVGKPGVPGLPGKPGER
GPYGPKGDVGPAGLPGPRGPPGPPGIPGPAGISVPGKPGQQGPTGAPGPRGFPGEKGAPG
VPGMNGQKGEMGYGAPGRPGERGLPGPQGPTGPSGPPGVGKRGENGVPGQPGIKGDRGFP
GEMGPIGPPGPQGPPGERGPEGIGKPGAAGAPGQPGIPGTKGLPGAPGIAGPPGPPGFGK
PGLPGLKGERGPAGLPGGPGAKGEQGPAGLPGKPGLTGPPGNMGPQGPKGIPGSHGLPGP
KGETGPAGPAGYPGAKGERGSPGSDGKPGYPGKPGLDGPKGNPGLPGPKGDPGVGGPPGL
PGPVGPAGAKGMPGHNGEAGPRGAPGIPGTRGPIGPPGIPGFPGSKGDPGSPGPPGPAGI
ATKGLNGPTGPPGPPGPRGHSGEPGLPGPPGPPGPPGQAVMPEGFIKAGQRPSLSGTPLV
SANQGVTGMPVSAFTVILSKAYPAIGTPIPFDKILYNRQQHYDPRTGIFTCQIPGIYYFS
YHVHVKGTHVWVGLYKNGTPVMYTYDEYTKGYLDQASGSAIIDLTENDQVWLQLPNAESN
GLYSSEYVHSSFSGFLVAPM
NT seq 2043 nt   +upstreamnt  +downstreamnt
atgctgccacaaataccctttttgctgctagtatccttgaacttggttcatggagtgttt
tacgctgaacgataccaaatgcccacaggcataaaaggcccactacccaacaccaagaca
cagttcttcattccctacaccataaagagtaaaggtatagcagtaagaggagagcaaggt
actcctggtccaccaggccctgctggacctcgagggcacccaggtccttctggaccacca
ggaaaaccaggctacggaagtcctggactccaaggagagccagggttgccaggaccaccg
ggaccatcagctgtagggaaaccaggtgtgccaggactcccaggaaaaccaggagagaga
ggaccatatggaccaaaaggagatgttggaccagctggcctaccaggaccccggggccca
ccaggaccacctggaatccctggaccggctggaatttctgtgccaggaaaacctggacaa
cagggacccacaggagccccaggacccaggggctttcctggagaaaagggtgcaccagga
gtccctggtatgaatggacagaaaggggaaatgggatatggtgctcctggtcgtccaggt
gagaggggtcttccaggccctcagggtcccacaggaccatctggccctcctggagtggga
aaaagaggtgaaaatggggttccaggacagccaggcatcaaaggtgatagaggttttccg
ggagaaatgggaccaattggcccaccaggtccccaaggccctcctggggaacgagggcca
gaaggcattggaaagccaggagctgctggagccccaggccagccagggattccaggaaca
aaaggtctccctggggctccaggaatagctgggcccccagggcctcctggctttgggaaa
ccaggcttgccaggcctgaagggagaaagaggacctgctggccttcctgggggtccaggt
gccaaaggggaacaagggccagcaggtcttcctgggaagccaggtctgactggaccccct
gggaatatgggaccccaaggaccaaaaggcatcccgggtagccatggtctcccaggccct
aaaggtgagacagggccagctgggcctgcaggataccctggggctaagggtgaaaggggt
tcccctgggtcagatggaaaaccagggtacccaggaaaaccaggtctcgatggtcctaag
ggtaacccagggttaccaggtccaaaaggtgatcctggagttggaggacctcctggtctc
ccaggccctgtgggcccagcaggagcaaagggaatgcccggacacaatggagaggctggc
ccaagaggtgcccctggaataccaggtactagaggccctattgggccaccaggcattcca
ggattccctgggtctaaaggggatccaggaagtcccggtcctcctggcccagctggcata
gcaactaagggcctcaatggacccaccgggccaccagggcctccaggtccaagaggccac
tctggagagcctggtcttccagggccccctgggcctccaggcccaccaggtcaagcagtc
atgcctgagggttttataaaggcaggccaaaggcccagtctttctgggacccctcttgtt
agtgccaaccagggggtaacaggaatgcctgtgtctgcttttactgttattctctccaaa
gcttacccagcaataggaactcccataccatttgataaaattttgtataacaggcaacag
cattatgacccaaggactggaatctttacttgtcagataccaggaatatactatttttca
taccacgtgcatgtgaaagggactcatgtttgggtaggcctgtataagaatggcacccct
gtaatgtacacctatgatgaatacaccaaaggctacctggatcaggcttcagggagtgcc
atcatcgatctcacagaaaatgaccaggtgtggctccagcttcccaatgccgagtcaaat
ggcctatactcctctgagtatgtccactcctctttctcaggattcctagtggctccaatg
tga

KEGG   Homo sapiens (human): 1301
Entry
1301              CDS       T01001                                 

Gene name
COL11A1, CO11A1, COLL6, DFNA37, STL2
Definition
(RefSeq) collagen type XI alpha 1 chain
  KO
K19721  collagen type V/XI/XXIV/XXVII, alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04974  Protein digestion and absorption
Disease
H00805  Vitreoretinal degeneration
H02072  Stickler syndrome
H02080  Fibrochondrogenesis
H02081  Marshall syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    1301 (COL11A1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    1301 (COL11A1)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Heparin
  Extracellular matrix molecules
   1301 (COL11A1)
SSDB
Motif
Pfam: Collagen COLFI Laminin_G_2 Laminin_G_3 Laminin_G_1
Other DBs
NCBI-GeneID: 1301
NCBI-ProteinID: NP_001845
OMIM: 120280
HGNC: 2186
Ensembl: ENSG00000060718
Vega: OTTHUMG00000010872
Pharos: P12107(Tbio)
UniProt: P12107 Q59HB5
Position
1p21.1
AA seq 1806 aa
MEPWSSRWKTKRWLWDFTVTTLALTFLFQAREVRGAAPVDVLKALDFHNSPEGISKTTGF
CTNRKNSKGSDTAYRVSKQAQLSAPTKQLFPGGTFPEDFSILFTVKPKKGIQSFLLSIYN
EHGIQQIGVEVGRSPVFLFEDHTGKPAPEDYPLFRTVNIADGKWHRVAISVEKKTVTMIV
DCKKKTTKPLDRSERAIVDTNGITVFGTRILDEEVFEGDIQQFLITGDPKAAYDYCEHYS
PDCDSSAPKAAQAQEPQIDEYAPEDIIEYDYEYGEAEYKEAESVTEGPTVTEETIAQTEA
NIVDDFQEYNYGTMESYQTEAPRHVSGTNEPNPVEEIFTEEYLTGEDYDSQRKNSEDTLY
ENKEIDGRDSDLLVDGDLGEYDFYEYKEYEDKPTSPPNEEFGPGVPAETDITETSINGHG
AYGEKGQKGEPAVVEPGMLVEGPPGPAGPAGIMGPPGLQGPTGPPGDPGDRGPPGRPGLP
GADGLPGPPGTMLMLPFRYGGDGSKGPTISAQEAQAQAILQQARIALRGPPGPMGLTGRP
GPVGGPGSSGAKGESGDPGPQGPRGVQGPPGPTGKPGKRGRPGADGGRGMPGEPGAKGDR
GFDGLPGLPGDKGHRGERGPQGPPGPPGDDGMRGEDGEIGPRGLPGEAGPRGLLGPRGTP
GAPGQPGMAGVDGPPGPKGNMGPQGEPGPPGQQGNPGPQGLPGPQGPIGPPGEKGPQGKP
GLAGLPGADGPPGHPGKEGQSGEKGALGPPGPQGPIGYPGPRGVKGADGVRGLKGSKGEK
GEDGFPGFKGDMGLKGDRGEVGQIGPRGEDGPEGPKGRAGPTGDPGPSGQAGEKGKLGVP
GLPGYPGRQGPKGSTGFPGFPGANGEKGARGVAGKPGPRGQRGPTGPRGSRGARGPTGKP
GPKGTSGGDGPPGPPGERGPQGPQGPVGFPGPKGPPGPPGKDGLPGHPGQRGETGFQGKT
GPPGPGGVVGPQGPTGETGPIGERGHPGPPGPPGEQGLPGAAGKEGAKGDPGPQGISGKD
GPAGLRGFPGERGLPGAQGAPGLKGGEGPQGPPGPVGSPGERGSAGTAGPIGLPGRPGPQ
GPPGPAGEKGAPGEKGPQGPAGRDGVQGPVGLPGPAGPAGSPGEDGDKGEIGEPGQKGSK
GDKGENGPPGPPGLQGPVGAPGIAGGDGEPGPRGQQGMFGQKGDEGARGFPGPPGPIGLQ
GLPGPPGEKGENGDVGPMGPPGPPGPRGPQGPNGADGPQGPPGSVGSVGGVGEKGEPGEA
GNPGPPGEAGVGGPKGERGEKGEAGPPGAAGPPGAKGPPGDDGPKGNPGPVGFPGDPGPP
GEPGPAGQDGVGGDKGEDGDPGQPGPPGPSGEAGPPGPPGKRGPPGAAGAEGRQGEKGAK
GEAGAEGPPGKTGPVGPQGPAGKPGPEGLRGIPGPVGEQGLPGAAGQDGPPGPMGPPGLP
GLKGDPGSKGEKGHPGLIGLIGPPGEQGEKGDRGLPGTQGSPGAKGDGGIPGPAGPLGPP
GPPGLPGPQGPKGNKGSTGPAGQKGDSGLPGPPGSPGPPGEVIQPLPILSSKKTRRHTEG
MQADADDNILDYSDGMEEIFGSLNSLKQDIEHMKFPMGTQTNPARTCKDLQLSHPDFPDG
EYWIDPNQGCSGDSFKVYCNFTSGGETCIYPDKKSEGVRISSWPKEKPGSWFSEFKRGKL
LSYLDVEGNSINMVQMTFLKLLTASARQNFTYHCHQSAAWYDVSSGSYDKALRFLGSNDE
EMSYDNNPFIKTLYDGCASRKGYEKTVIEINTPKIDQVPIVDVMINDFGDQNQKFGFEVG
PVCFLG
NT seq 5421 nt   +upstreamnt  +downstreamnt
atggagccgtggtcctctaggtggaaaacgaaacggtggctctgggatttcaccgtaaca
accctcgcattgaccttcctcttccaagctagagaggtcagaggagctgctccagttgat
gtactaaaagcactagattttcacaattctccagagggaatatcaaaaacaacgggattt
tgcacaaacagaaagaattctaaaggctcagatactgcttacagagtttcaaagcaagca
caactcagtgccccaacaaaacagttatttccaggtggaactttcccagaagacttttca
atactatttacagtaaaaccaaaaaaaggaattcagtctttccttttatctatatataat
gagcatggtattcagcaaattggtgttgaggttgggagatcacctgtttttctgtttgaa
gaccacactggaaaacctgccccagaagactatcccctcttcagaactgttaacatcgct
gacgggaagtggcatcgggtagcaatcagcgtggagaagaaaactgtgacaatgattgtt
gattgtaagaagaaaaccacgaaaccacttgatagaagtgagagagcaattgttgatacc
aatggaatcacggtttttggaacaaggattttggatgaagaagtttttgagggggacatt
cagcagtttttgatcacaggtgatcccaaggcagcatatgactactgtgagcattatagt
ccagactgtgactcttcagcacccaaggctgctcaagctcaggaacctcagatagatgag
tatgcaccagaggatataatcgaatatgactatgagtatggggaagcagagtataaagag
gctgaaagtgtaacagagggacccactgtaactgaggagacaatagcacagacggaggca
aacatcgttgatgattttcaagaatacaactatggaacaatggaaagttaccagacagaa
gctcctaggcatgtttctgggacaaatgagccaaatccagttgaagaaatatttactgaa
gaatatctaacgggagaggattatgattcccagaggaaaaattctgaggatacactatat
gaaaacaaagaaatagacggcagggattctgatcttctggtagatggagatttaggcgaa
tatgatttttatgaatataaagaatatgaagataaaccaacaagcccccctaatgaagaa
tttggtccaggtgtaccagcagaaactgatattacagaaacaagcataaatggccatggt
gcatatggagagaaaggacagaaaggagaaccagcagtggttgagcctggtatgcttgtc
gaaggaccaccaggaccagcaggacctgcaggtattatgggtcctccaggtctacaaggc
cccactggaccccctggtgaccctggcgataggggccccccaggacgtcctggcttacca
ggggctgatggtctacctggtcctcctggtactatgttgatgttaccgttccgttatggt
ggtgatggttccaaaggaccaaccatctctgctcaggaagctcaggctcaagctattctt
cagcaggctcggattgctctgagaggcccacctggcccaatgggtctaactggaagacca
ggtcctgtgggggggcctggttcatctggggccaaaggtgagagtggtgatccaggtcct
cagggccctcgaggcgtccagggtccccctggtccaacgggaaaacctggaaaaaggggt
cgtccaggtgcagatggaggaagaggaatgccaggagaacctggggcaaagggagatcga
gggtttgatggacttccgggtctgccaggtgacaaaggtcacaggggtgaacgaggtcct
caaggtcctccaggtcctcctggtgatgatggaatgaggggagaagatggagaaattgga
ccaagaggtcttccaggtgaagctggcccacgaggtttgctgggtccaaggggaactcca
ggagctccagggcagcctggtatggcaggtgtagatggccccccaggaccaaaagggaac
atgggtccccaaggggagcctgggcctccaggtcaacaagggaatccaggacctcagggt
cttcctggtccacaaggtccaattggtcctcctggtgaaaaaggaccacaaggaaaacca
ggacttgctggacttcctggtgctgatgggcctcctggtcatcctgggaaagaaggccag
tctggagaaaagggggctctgggtccccctggtccacaaggtcctattggatacccgggc
ccccggggagtaaagggagcagatggtgtcagaggtctcaagggatctaaaggtgaaaag
ggtgaagatggttttccaggattcaaaggtgacatgggtctaaaaggtgacagaggagaa
gttggtcaaattggcccaagaggggaagatggccctgaaggacccaaaggtcgagcaggc
ccaactggagacccaggtccttcaggtcaagcaggagaaaagggaaaacttggagttcca
ggattaccaggatatccaggaagacaaggtccaaagggttccactggattccctgggttt
ccaggtgccaatggagagaaaggtgcacggggagtagctggcaaaccaggccctcggggt
cagcgtggtccaacgggtcctcgaggttcaagaggtgcaagaggtcccactgggaaacct
gggccaaagggcacttcaggtggcgatggccctcctggccctccaggtgaaagaggtcct
caaggacctcagggtccagttggattccctggaccaaaaggccctcctggaccacctggg
aaggatgggctgccaggacaccctgggcaacgtggggagactggatttcaaggcaagacc
ggccctcctgggccagggggagtggttggaccacagggaccaaccggtgagactggtcca
ataggggaacgtgggcatcctggccctcctggccctcctggtgagcaaggtcttcctggt
gctgcaggaaaagaaggtgcaaagggtgatccaggtcctcaaggtatctcagggaaagat
ggaccagcaggattacgtggtttcccaggggaaagaggtcttcctggagctcagggtgca
cctggactgaaaggaggggaaggtccccagggcccaccaggtccagttggctcaccagga
gaacgtgggtcagcaggtacagctggcccaattggtttaccagggcgcccgggacctcag
ggtcctcctggtccagctggagagaaaggtgctcctggagaaaaaggtccccaagggcct
gcagggagagatggagttcaaggtcctgttggtctcccagggccagctggtcctgccggc
tcccctggggaagacggagacaagggtgaaattggtgagccgggacaaaaaggcagcaag
ggtgacaagggagaaaatggccctcccggtcccccaggtcttcaaggaccagttggtgcc
cctggaattgctggaggtgatggtgaaccaggtcctagaggacagcaggggatgtttggg
caaaaaggtgatgagggtgccagaggcttccctggacctcctggtccaataggtcttcag
ggtctgccaggcccacctggtgaaaaaggtgaaaatggggatgttggtcccatggggcca
cctggtcctccaggcccaagaggccctcaaggtcccaatggagctgatggaccacaagga
cccccagggtctgttggttcagttggtggtgttggagaaaagggtgaacctggagaagca
gggaacccagggcctcctggggaagcaggtgtaggcggtcccaaaggagaaagaggagag
aaaggggaagctggtccacctggagctgctggacctccaggtgccaaggggccaccaggt
gatgatggccctaagggtaacccgggtcctgttggttttcctggagatcctggtcctcct
ggggaacctggccctgcaggtcaagatggtgttggtggtgacaagggtgaagatggagat
cctggtcaaccgggtcctcctggcccatctggtgaggctggcccaccaggtcctcctgga
aaacgaggtcctcctggagctgcaggtgcagagggaagacaaggtgaaaaaggtgctaag
ggggaagcaggtgcagaaggtcctcctggaaaaaccggcccagtcggtcctcagggacct
gcaggaaagcctggtccagaaggtcttcggggcatccctggtcctgtgggagaacaaggt
ctccctggagctgcaggccaagatggaccacctggtcctatgggacctcctggcttacct
ggtctcaaaggtgaccctggctccaagggtgaaaagggacatcctggtttaattggcctg
attggtcctccaggagaacaaggggaaaaaggtgaccgagggctccctggaactcaagga
tctccaggagcaaaaggggatgggggaattcctggtcctgctggtcccttaggtccacct
ggtcctccaggtttaccaggtcctcaaggcccaaagggtaacaaaggctctactggaccc
gctggccagaaaggtgacagtggtcttccagggcctcctgggtctccaggtccacctggt
gaagtcattcagcctttaccaatcttgtcctccaaaaaaacgagaagacatactgaaggc
atgcaagcagatgcagatgataatattcttgattactcggatggaatggaagaaatattt
ggttccctcaattccctgaaacaagacattgagcatatgaaatttccaatgggtactcag
accaatccagcccgaacttgtaaagacctgcaactcagccatcctgacttcccagatggt
gaatattggattgatcctaaccaaggttgctcaggagattccttcaaagtttactgtaat
ttcacatctggtggtgagacttgcatttatccagacaaaaaatctgagggagtaagaatt
tcatcatggccaaaggagaaaccaggaagttggtttagtgaatttaagaggggaaaactg
ctttcatacttagatgttgaaggaaattccatcaatatggtgcaaatgacattcctgaaa
cttctgactgcctctgctcggcaaaatttcacctaccactgtcatcagtcagcagcctgg
tatgatgtgtcatcaggaagttatgacaaagcacttcgcttcctgggatcaaatgatgag
gagatgtcctatgacaataatccttttatcaaaacactgtatgatggttgtgcgtccaga
aaaggctatgaaaagactgtcattgaaatcaatacaccaaaaattgatcaagtacctatt
gttgatgtcatgatcaatgactttggtgatcagaatcagaagttcggatttgaagttggt
cctgtttgttttcttggctaa

KEGG   Homo sapiens (human): 1302
Entry
1302              CDS       T01001                                 

Gene name
COL11A2, DFNA13, DFNB53, FBCG2, HKE5, OSMEDA, OSMEDB, PARP, STL3
Definition
(RefSeq) collagen type XI alpha 2 chain
  KO
K19721  collagen type V/XI/XXIV/XXVII, alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04974  Protein digestion and absorption
Disease
H00431  Ossification of the posterior longitudinal ligament of spine
H00604  Deafness, autosomal dominant
H00605  Deafness, autosomal recessive
H02072  Stickler syndrome
H02079  Oto-spondylo-megaepiphyseal dysplasia
H02080  Fibrochondrogenesis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    1302 (COL11A2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    1302 (COL11A2)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Heparin
  Extracellular matrix molecules
   1302 (COL11A2)
SSDB
Motif
Pfam: Collagen COLFI Laminin_G_2 Laminin_G_3 Laminin_G_1
Other DBs
NCBI-GeneID: 1302
NCBI-ProteinID: NP_542411
OMIM: 120290
HGNC: 2187
Ensembl: ENSG00000204248
Vega: OTTHUMG00000031036
Pharos: P13942(Tbio)
UniProt: P13942 A0A0C4DFS1
Position
6p21.32
AA seq 1736 aa
MERCSRCHRLLLLLPLVLGLSAAPGWAGAPPVDVLRALRFPSLPDGVRRAKGICPADVAY
RVARPAQLSAPTRQLFPGGFPKDFSLLTVVRTRPGLQAPLLTLYSAQGVRQLGLELGRPV
RFLYEDQTGRPQPPSQPVFRGLSLADGKWHRVAVAVKGQSVTLIVDCKKRVTRPLPRSAR
PVLDTHGVIIFGARILDEEVFEGDVQELAIVPGVQAAYESCEQKELECEGGQRERPQNQQ
PHRAQRSPQQQPSRLHRPQNQEPQSQPTESLYYDYEPPYYDVMTTGTTPDYQDPTPGEEE
EILESSLLPPLEEEQTDLQVPPTADRFQAEEYGEGGTDPPEGPYDYTYGYGDDYREETEL
GPALSAETAHSGAAAHGPRGLKGEKGEPAVLEPGMLVEGPPGPEGPAGLIGPPGIQGNPG
PVGDPGERGPPGRAGLPGSDGAPGPPGTSLMLPFRFGSGGGDKGPVVAAQEAQAQAILQQ
ARLALRGPPGPMGYTGRPGPLGQPGSPGLKGESGDLGPQGPRGPQGLTGPPGKAGRRGRA
GADGARGMPGDPGVKGDRGFDGLPGLPGEKGHRGDTGAQGLPGPPGEDGERGDDGEIGPR
GLPGESGPRGLLGPKGPPGIPGPPGVRGMDGPQGPKGSLGPQGEPGPPGQQGTPGTQGLP
GPQGAIGPHGEKGPQGKPGLPGMPGSDGPPGHPGKEGPPGTKGNQGPSGPQGPLGYPGPR
GVKGVDGIRGLKGHKGEKGEDGFPGFKGDIGVKGDRGEVGVPGSRGEDGPEGPKGRTGPT
GDPGPPGLMGEKGKLGVPGLPGYPGRQGPKGSLGFPGFPGASGEKGARGLSGKSGPRGER
GPTGPRGQRGPRGATGKSGAKGTSGGDGPHGPPGERGLPGPQGPNGFPGPKGPPGPPGKD
GLPGHPGQRGEVGFQGKTGPPGPPGVVGPQGAAGETGPMGERGHPGPPGPPGEQGLPGTA
GKEGTKGDPGPPGAPGKDGPAGLRGFPGERGLPGTAGGPGLKGNEGPSGPPGPAGSPGER
GAAGSGGPIGPPGRPGPQGPPGAAGEKGVPGEKGPIGPTGRDGVQGPVGLPGPAGPPGVA
GEDGDKGEVGDPGQKGTKGNKGEHGPPGPPGPIGPVGQPGAAGADGEPGARGPQGHFGAK
GDEGTRGFNGPPGPIGLQGLPGPSGEKGETGDVGPMGPPGPPGPRGPAGPNGADGPQGPP
GGVGNLGPPGEKGEPGESGSPGIQGEPGVKGPRGERGEKGESGQPGEPGPPGPKGPTGDD
GPKGNPGPVGFPGDPGPPGEGGPRGQDGAKGDRGEDGEPGQPGSPGPTGENGPPGPLGKR
GPAGSPGSEGRQGGKGAKGDPGAIGAPGKTGPVGPAGPAGKPGPDGLRGLPGSVGQQGRP
GATGQAGPPGPVGPPGLPGLRGDAGAKGEKGHPGLIGLIGPPGEQGEKGDRGLPGPQGSP
GQKGEMGIPGASGPIGPGGPPGLPGPAGPKGAKGATGPGGPKGEKGVQGPPGHPGPPGEV
IQPLPIQMPKKTRRSVDGSRLMQEDEAIPTGGAPGSPGGLEEIFGSLDSLREEIEQMRRP
TGTQDSPARTCQDLKLCHPELPDGEYWVDPNQGCARDAFRVFCNFTAGGETCVTPRDDVT
QFSYVDSEGSPVGVVQLTFLRLLSVSAHQDVSYPCSGAARDGPLRLRGANEDELSPETSP
YVKEFRDGCQTQQGRTVLEVRTPVLEQLPVLDASFSDLGAPPRRGGVLLGPVCFMG
NT seq 5211 nt   +upstreamnt  +downstreamnt
atggagcggtgcagccgctgccatcgcctcctcctcctcctacctctggtgctggggctg
agcgcggccccaggctgggcaggtgcaccccctgtggatgtgctccgggccctgaggttc
ccctccctccctgatggtgtccggagagcgaaaggcatctgtccagctgatgtggcctac
cgagtggcacgacctgcccagctcagtgcacccactcgccagcttttcccaggaggattt
cccaaagatttctctctgctgactgttgtccggacccgccctggtctccaagctcccctc
ctgactctctacagtgcccagggtgtccgacagctgggcctggagctgggccgacctgtc
cgcttcctgtatgaagaccagactgggcggcctcaacctccctctcagccagtcttccga
ggcctcagcctagcagatggcaagtggcaccgtgtggctgtggctgtgaagggccagtct
gtcaccctcattgttgactgcaagaagcgagtcacccggcctctcccccgaagtgctcgt
ccagtattggacacccatggagtgatcatctttggtgcccgtattctggatgaagaagtc
tttgagggtgatgtccaggagctggccattgtcccaggggtccaggcagcctatgaatca
tgtgaacagaaggagctggaatgcgaggggggccagagggaaagaccccaaaaccaacag
cctcacagagcccagagatctccacagcagcaaccatcaagacttcacaggccacaaaat
caggaaccccagagccagcccactgagtctctctactatgactacgagcccccctattat
gatgtgatgactacggggacaacccctgattatcaggaccccaccccaggtgaagaggaa
gaaatcctggagtcgagcctcttgccaccccttgaggaggagcagacagatctccaggtc
ccccccacagccgacaggttccaggcagaggaatatggggagggtggcacagacccccct
gaagggccctacgattacacctatggctatggggatgattatcgtgaggagacagagctt
ggccctgccctctctgcggagacagcccactcaggagccgctgcccatggaccccgaggg
ctgaagggagagaaaggagagcctgcagtgttggaacctggtatgctcgtggaggggccc
cctggcccagaaggccctgcgggattgattggtccccctggcatccaggggaacccaggc
ccagttggagaccctggagagaggggcccccctggccgagcagggctccctggatcagat
ggggctcctggtcctcctggcacatctctcatgctcccattccggtttggcagtggtggg
ggtgacaagggccctgtggtggcggcccaggaggctcaggcccaggcgatcctgcagcag
gcgaggctggcgctccgtggaccccctggccccatgggatacacagggcgccctggaccc
ttgggccaacctgggagccctggcctgaaaggagagtctggagacttaggacctcagggc
cccagaggacctcagggcctcacaggccctcctggcaaggctgggcgaaggggccgggca
ggtgctgatggagcccgagggatgcctggagatcctggagtgaagggtgaccgaggtttt
gatggactcccagggctccctggagagaagggccataggggtgatactggtgcccagggc
cttcctggtccccctggtgaggatggagagaggggagatgacggggagattgggcctcga
gggctgcctggagagtcgggacctcgaggtctccttggccccaaaggcccacctggtatt
cctggaccccctggcgtccgaggcatggatggtccccagggccccaaagggagcttggga
ccccagggagagccaggacctcctggacaacagggcacccctgggacccagggtcttccc
gggccccagggtgccatcggccctcatggagagaagggtcctcaagggaagccagggctc
cccggcatgcctggctcagacggacccccgggtcacccagggaaggaaggtccccctgga
accaaaggaaaccagggtccctctggacctcagggacctctaggatacccaggacctcga
ggggtcaagggtgtggacggaattcggggtctgaagggtcataagggtgagaagggtgag
gatggctttcctgggttcaaaggtgacataggcgtgaaaggtgacaggggcgaagttgga
gtccctggttccaggggagaggatggtcctgaggggccaaagggacgcactggaccgact
ggagaccctgggcccccagggctcatgggcgagaagggcaagctgggtgttcctggtctg
cctggctatcctggacgtcagggacccaaggggtccctaggatttcctggctttcctggt
gccagtggagagaagggagcccggggcctgtcggggaagtcagggcctcggggagaacgg
ggccccacgggtccacggggtcagcggggaccccgaggtgccactgggaagtctggagct
aagggaacatctggtggtgatggcccccatgggccccctggagagaggggcctccctgga
cctcagggtcccaacgggtttcctggaccgaaaggacccccgggcccccctgggaaggat
gggctgccgggacacccaggccaaagaggagaagtgggtttccaagggaagaccggcccc
cctggtcctccaggagtggtgggacctcagggagcagcaggagaaaccggccctatgggg
gagagaggtcacccaggccccccggggccccctggagagcagggactacctgggacagct
ggaaaagaaggaacaaagggtgaccctggtccccctggggccccagggaaggatggtcct
gctggtctgaggggattcccaggagagagaggcctcccaggcactgctggtggacctggt
ttgaaggggaatgaaggtccgtctggcccccctggccctgcaggctcccctggggaacga
ggtgcagcaggatcagggggacccattggtccgccagggcgcccaggcccgcagggtccc
cctggagcagcaggagagaaaggtgtcccaggtgagaagggccccattggcccgactggc
cgagatggagtgcagggtcctgtggggcttcctggtcctgctgggcctccaggtgtggct
ggagaggatggagacaagggtgaggtgggggaccccggacagaagggcaccaaagggaac
aagggtgaacatggccctcctggaccccctggacccattggtcctgtggggcagcctgga
gcagcgggagcagatggggagcccggagctcggggaccccagggacactttggagccaaa
ggtgatgaaggaacaagaggattcaatgggcccccaggacccattggcctacagggtttg
ccaggcccctctggggagaagggagaaacaggagatgtgggtcctatgggaccacctggc
cccccaggacctcgaggtccagctggacccaatggcgctgatggcccacaaggtccccca
ggaggtgttgggaacctgggtccccctggagagaagggggaaccaggagagtcaggatct
ccagggatccagggcgagccaggtgtcaagggtccacgcggggaacgtggagagaaagga
gagtcggggcagccaggagagccagggccaccagggcctaaaggccccacaggcgatgat
ggccccaaagggaaccctggtcctgttggttttcctggtgaccctggcccccctggagaa
ggtggccctcggggccaggatggtgctaagggtgaccgaggcgaggatggtgagccagga
cagcctggatcccctggtcccaccggggagaatggacccccagggccacttggaaagcga
ggtcctgctggctcgcctggttccgaggggcgacaaggagggaagggagccaagggagat
cctggcgctataggtgccccggggaagacaggcccggtgggtcctgcaggcccagcaggg
aaacctggccctgatggtctgagggggctcccaggctcagtgggtcagcaaggccgacct
ggagctacaggccaggctgggcccccaggtcctgtgggacccccagggctgcctggtctc
cggggcgatgctggagccaagggagagaagggccacccaggtctcattggactgattggg
cccccgggtgagcagggagagaagggagatcggggacttcctgggcctcagggctcccct
gggcagaagggtgagatgggtatcccaggagcatccggccccattggtcctggaggtccc
cccggcctccccggacctgctggccccaaaggagccaaaggagccacaggcccaggcgga
cccaagggagagaagggtgtgcagggccctccaggacacccgggtcccccaggcgaggtg
atccagccactgcccattcagatgcccaagaagactcggcgctcggtggatggaagccgt
ctgatgcaggaagatgaggccataccgaccgggggagcccccggcagtcctggggggctg
gaggagatctttggctcactcgactccctgcgggaggagatcgagcagatgaggcggcca
acagggacccaggacagccctgctcgcacctgccaggacctgaagctgtgccacccagag
cttcccgatggagagtactgggtcgaccccaaccagggctgtgctcgggatgccttccga
gttttctgcaacttcacagcagggggtgagacctgtgtgacgcctagggatgacgtcacg
cagttctcttacgtggactcagagggctccccagtgggtgtggtccagctcaccttcctg
cggctgctcagcgtctcagcccaccaggacgtctcctacccctgctctggagcagcccgt
gacggtcccctgagactccgtggggccaatgaggatgagctgagcccggagactagcccc
tatgtcaaagaattcagagatggctgccagacacagcaaggccggacggtgctggaggtg
cgaacgcctgtgctggagcagctgccagtgctggatgcctccttctcagacctgggagcc
ccaccgaggcggggaggggtgctgctggggcctgtctgcttcatgggatag

KEGG   Homo sapiens (human): 1303
Entry
1303              CDS       T01001                                 

Gene name
COL12A1, BA209D8.1, BTHLM2, COL12A1L, DJ234P15.1, EDSMYP, UCMD2
Definition
(RefSeq) collagen type XII alpha 1 chain
  KO
K08132  collagen type XII alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04974  Protein digestion and absorption
Disease
H01778  Ullrich disease
H02247  Ehlers-Danlos syndrome myopathic type
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    1303 (COL12A1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   00535 Proteoglycans [BR:hsa00535]
    1303 (COL12A1)
Proteoglycans [BR:hsa00535]
 Extracellular matrix (ECM) proteoglycans
  Collagen family
   1303 (COL12A1)
SSDB
Motif
Pfam: fn3 VWA VWA_2 Collagen Pur_ac_phosph_N Interfer-bind DUF4998 VWA_3 Copine Toxin_R_bind_N
Other DBs
NCBI-GeneID: 1303
NCBI-ProteinID: NP_004361
OMIM: 120320
HGNC: 2188
Ensembl: ENSG00000111799
Vega: OTTHUMG00000015051
Pharos: Q99715(Tbio)
UniProt: Q99715
Position
6q13-q14.1
AA seq 3063 aa
MRSRLPPALAALGAALLLSSIEAEVDPPSDLNFKIIDENTVHMSWAKPVDPIVGYRITVD
PTTDGPTKEFTLSASTTETLLSELVPETEYVVTITSYDEVEESVPVIGQLTIQTGSSTKP
VEKKPGKTEIQKCSVSAWTDLVFLVDGSWSVGRNNFKYILDFIAALVSAFDIGEEKTRVG
VVQYSSDTRTEFNLNQYYQRDELLAAIKKIPYKGGNTMTGDAIDYLVKNTFTESAGARVG
FPKVAIIITDGKSQDEVEIPARELRNVGVEVFSLGIKAADAKELKQIASTPSLNHVFNVA
NFDAIVDIQNEIISQVCSGVDEQLGELVSGEEVVEPPSNLIAMEVSSKYVKLNWNPSPSP
VTGYKVILTPMTAGSRQHALSVGPQTTTLSVRDLSADTEYQISVSAMKGMTSSEPISIME
KTQPMKVQVECSRGVDIKADIVFLVDGSYSIGIANFVKVRAFLEVLVKSFEISPNRVQIS
LVQYSRDPHTEFTLKKFTKVEDIIEAINTFPYRGGSTNTGKAMTYVREKIFVPSKGSRSN
VPKVMILITDGKSSDAFRDPAIKLRNSDVEIFAVGVKDAVRSELEAIASPPAETHVFTVE
DFDAFQRISFELTQSICLRIEQELAAIKKKAYVPPKDLSFSEVTSYGFKTNWSPAGENVF
SYHITYKEAAGDDEVTVVEPASSTSVVLSSLKPETLYLVNVTAEYEDGFSIPLAGEETTE
EVKGAPRNLKVTDETTDSFKITWTQAPGRVLRYRIIYRPVAGGESREVTTPPNQRRRTLE
NLIPDTKYEVSVIPEYFSGPGTPLTGNAATEEVRGNPRDLRVSDPTTSTMKLSWSGAPGK
VKQYLVTYTPVAGGETQEVTVRGDTTNTVLQGLKEGTQYALSVTALYASGAGDALFGEGT
TLEERGSPQDLVTKDITDTSIGAYWTSAPGMVRGYRVSWKSLYDDVDTGEKNLPEDAIHT
MIENLQPETKYRISVFATYSSGEGEPLTGDATTELSQDSKTLKVDEETENTMRVTWKPAP
GKVVNYRVVYRPHGRGKQMVAKVPPTVTSTVLKRLQPQTTYDITVLPIYKMGEGKLRQGS
GTTASRFKSPRNLKTSDPTMSSFRVTWEPAPGEVKGYKVTFHPTGDDRRLGELVVGPYDN
TVVLEELRAGTTYKVNVFGMFDGGESSPLVGQEMTTLSDTTVMPILSSGMECLTRAEADI
VLLVDGSWSIGRANFRTVRSFISRIVEVFDIGPKRVQIALAQYSGDPRTEWQLNAHRDKK
SLLQAVANLPYKGGNTLTGMALNFIRQQNFRTQAGMRPRARKIGVLITDGKSQDDVEAPS
KKLKDEGVELFAIGIKNADEVELKMIATDPDDTHAYNVADFESLSRIVDDLTINLCNSVK
GPGDLEAPSNLVISERTHRSFRVSWTPPSDSVDRYKVEYYPVSGGKRQEFYVSRMETSTV
LKDLKPETEYVVNVYSVVEDEYSEPLKGTEKTLPVPVVSLNIYDVGPTTMHVQWQPVGGA
TGYILSYKPVKDTEPTRPKEVRLGPTVNDMQLTDLVPNTEYAVTVQAVLHDLTSEPVTVR
EVTLPLPRPQDLKLRDVTHSTMNVFWEPVPGKVRKYIVRYKTPEEDVKEVEVDRSETSTS
LKDLFSQTLYTVSVSAVHDEGESPPVTAQETTRPVPAPTNLKITEVTSEGFRGTWDHGAS
DVSLYRITWAPFGSSDKMETILNGDENTLVFENLNPNTIYEVSITAIYPDESESDDLIGS
ERTLPILTTQAPKSGPRNLQVYNATSNSLTVKWDPASGRVQKYRITYQPSTGEGNEQTTT
IGGRQNSVVLQKLKPDTPYTITVSSLYPDGEGGRMTGRGKTKPLNTVRNLRVYDPSTSTL
NVRWDHAEGNPRQYKLFYAPAAGGPEELVPIPGNTNYAILRNLQPDTSYTVTVVPVYTEG
DGGRTSDTGRTLMRGLARNVQVYNPTPNSLDVRWDPAPGPVLQYRVVYSPVDGTRPSESI
VVPGNTRMVHLERLIPDTLYSVNLVALYSDGEGNPSPAQGRTLPRSGPRNLRVFGETTNS
LSVAWDHADGPVQQYRIIYSPTVGDPIDEYTTVPGRRNNVILQPLQPDTPYKITVIAVYE
DGDGGHLTGNGRTVGLLPPQNIHISDEWYTRFRVSWDPSPSPVLGYKIVYKPVGSNEPME
AFVGEMTSYTLHNLNPSTTYDVNVYAQYDSGLSVPLTDQGTTLYLNVTDLKTYQIGWDTF
CVKWSPHRAATSYRLKLSPADGTRGQEITVRGSETSHCFTGLSPDTDYGVTVFVQTPNLE
GPGVSVKEHTTVKPTEAPTEPPTPPPPPTIPPARDVCKGAKADIVFLTDASWSIGDDNFN
KVVKFIFNTVGGFDEISPAGIQVSFVQYSDEVKSEFKLNTYNDKALALGALQNIRYRGGN
TRTGKALTFIKEKVLTWESGMRKNVPKVLVVVTDGRSQDEVKKAALVIQQSGFSVFVVGV
ADVDYNELANIASKPSERHVFIVDDFESFEKIEDNLITFVCETATSSCPLIYLDGYTSPG
FKMLEAYNLTEKNFASVQGVSLESGSFPSYSAYRIQKNAFVNQPTADLHPNGLPPSYTII
LLFRLLPETPSDPFAIWQITDRDYKPQVGVIADPSSKTLSFFNKDTRGEVQTVTFDTEEV
KTLFYGSFHKVHIVVTSKSVKIYIDCYEIIEKDIKEAGNITTDGYEILGKLLKGERKSAA
FQIQSFDIVCSPVWTSRDRCCDIPSRRDEGKCPAFPNSCTCTQDSVGPPGPPGPAGGPGA
KGPRGERGISGAIGPPGPRGDIGPPGPQGPPGPQGPNGLSIPGEQGRQGMKGDAGEPGLP
GRTGTPGLPGPPGPMGPPGDRGFTGKDGAMGPRGPPGPPGSPGSPGVTGPSGKPGKPGDH
GRPGPSGLKGEKGDRGDIASQNMMRAVARQVCEQLISGQMNRFNQMLNQIPNDYQSSRNQ
PGPPGPPGPPGSAGARGEPGPGGRPGFPGTPGMQGPPGERGLPGEKGERGTGSSGPRGLP
GPPGPQGESRTGPPGSTGSRGPPGPPGRPGNSGIRGPPGPPGYCDSSQCASIPYNGQGYP
GSG
NT seq 9192 nt   +upstreamnt  +downstreamnt
atgcggagtaggcttcccccagcgcttgccgccctgggcgcggccctgctcctgtcttcc
attgaggcagaagttgacccaccttcagacttgaattttaaaattatagatgaaaatact
gttcatatgtcatgggcaaaaccagttgatccaattgtgggttacagaataacggtggac
cctacaacggatgggcctactaaagaatttaccctttcagctagtaccactgaaacttta
ttgtcagaacttgtacctgaaacagagtatgtggtgacaataacttcatatgatgaagta
gaagaaagtgtaccagttataggacaactaacaattcaaacaggtagttcgacaaagcca
gtggagaagaaacctggaaaaaccgagatacaaaaatgctctgtcagtgcctggactgat
ttggttttcctcgtggatggctcttggagtgtgggaagaaataatttcaagtacatttta
gacttcattgctgctcttgtgtctgcttttgacattggggaagagaagacaagagttgga
gttgttcaatacagctctgataccaggactgaatttaacttaaatcagtactaccaaagg
gatgaacttcttgctgcaataaaaaaaattccatataaaggtggcaacacaatgacaggg
gatgccattgattatttagttaaaaatactttcacggaatctgctggggcaagagttggc
tttcctaaagtggcaattattattacggatggaaaatcccaggatgaagtggaaattcca
gcaagagagcttcgtaatgttggagttgaagttttctccttgggcattaaagctgcagat
gcaaaagaactcaaacaaattgcctccacaccttcactgaaccatgttttcaatgtggcc
aactttgatgcaattgtggatattcagaatgagatcatctcccaggtgtgctcaggtgtt
gatgaacaacttggtgaattggttagtggagaagaagttgttgagcctccttcaaatttg
attgccatggaagtctcttcaaaatatgttaagctaaattggaatccatctcctagtcca
gtgactggctacaaagtcatcctcacaccaatgactgcaggaagccgacagcacgctctg
agtgtggggcctcagacaaccacgctcagtgttcgcgacctctcagcagacacagaatac
cagatcagtgtttccgccatgaagggaatgacatccagtgaacccatttcaataatggag
aagactcagccaatgaaagttcaagtggaatgctcacgtggtgtggatataaaagccgat
attgtgtttttggttgatggctcctatagcattgggattgcaaactttgttaaagttaga
gcctttttggaagttcttgtaaaaagttttgaaatttcaccaaatagggtccagattagt
cttgtgcaatacagccgggatcctcatactgagttcactttgaaaaaattcaccaaagtt
gaagatataattgaagcaataaacaccttcccttacagaggaggatctacaaatactggc
aaagcaatgacttatgtcagagagaaaatatttgtgcctagcaagggatcaagaagcaat
gtgccaaaggtcatgattcttatcacggatgggaaatcatcagatgctttcagagatcct
gcgataaaactgaggaattcagatgttgaaatctttgcagttggtgtgaaggatgccgtt
cgctcagaattggaagctattgcctctcctcctgcagagacccatgtgttcacagtggaa
gattttgatgcttttcagaggatatcttttgaactcacacagtctatctgccttagaatt
gagcaagaattggcagctataaagaagaaagcttacgtccctccaaaggatcttagtttt
tcagaagtgacttcttatggtttcaaaaccaactggtctccagctggagaaaatgttttt
tcatatcacatcacctacaaggaagcggctggggatgatgaggtcactgtggtggagcca
gcatcgagcaccagtgttgttctcagcagcctgaagccagagaccttgtatttggtcaat
gtgactgcggagtatgaggatggcttcagcattcccttagctggagaggagaccaccgaa
gaagtaaaaggagcacctcgaaacctaaaggtgacagatgagactacagatagtttcaaa
attacttggactcaagctccagggagagttttaagatatcgaattatatatagaccagtt
gctggtggagagagcagagaagttaccaccccacccaatcagaggaggagaacactggag
aacttgattccagacacgaaatatgaagtatctgtaattcctgaatatttctcaggacct
ggtactccattaactggaaatgcagccactgaagaagttagagggaatccaagagactta
agagtttctgaccctacgacgtctactatgaaattatcttggagtggggcaccaggaaaa
gtgaaacagtatctcgtcacatataccccagtggcagggggtgaaactcaagaggtcact
gtgaggggagatacaaccaatacggtgctgcagggattgaaggaagggacacaatacgcc
ttatctgtgacagccttgtatgcgtctggggctggagacgccctctttggtgaaggaaca
acacttgaagaacgtggttctcctcaagatttagttactaaagacatcactgacacatca
attggggcttattggacatctgctccaggaatggttcgcggttacagggtctcatggaaa
tcactttatgatgatgttgacactggagagaaaaatctgcctgaagatgcaattcatacg
atgatagaaaatctgcagccagagaccaaatacagaatttcagtatttgccacttacagc
agtggagaaggagaacctttgactggagatgccacaactgaattatctcaagattccaaa
accctgaaagtagatgaagaaacagaaaacacaatgagagttacatggaaaccagcacca
gggaaagtcgtcaactaccgtgttgtctatcgccctcatgggagagggaagcaaatggtt
gctaaggtgccccccacagtcacttcgacagtgttaaagcgacttcagccacagaccaca
tatgacatcacagttcttcctatttacaagatgggagaaggaaagcttaggcaaggatca
ggaacaacagcttctcggtttaagtctcctagaaacctcaaaacatctgacccaaccatg
tcaagcttccgagtgacttgggagcctgcccctggggaagtgaagggttataaagtcaca
ttccaccctacgggggatgacagaagactgggggagttagtggttggaccctatgacaac
acagttgttttggaggaacttagggctggtaccacctataaagtaaatgtttttggaatg
tttgatggaggagaaagctcaccacttgttggacaagaaatgacaaccctttccgacaca
actgttatgccaattttatcttctgggatggagtgtctcaccagagctgaggcagacatt
gtgttgctggtggatggatcatggagcatcggccgggcaaattttagaaccgtgaggagt
ttcatttctcgtattgtggaagtctttgacattggccccaaaagagtacaaattgctctt
gctcagtatagtggggatcccagaacagagtggcagttaaatgcacacagagacaagaag
agcttgttgcaagctgtggcaaacttgccgtacaaaggaggcaatactctcacaggcatg
gctttgaatttcattcgccaacagaacttcaggacccaagctggcatgagacctcgagct
cgaaaaattggtgtgctcattactgatggaaaatcacaagacgatgttgaagcaccttca
aagaaactcaaggatgagggagtggagctgtttgctattggtattaaaaatgctgatgaa
gtcgaattaaagatgattgcaactgatcctgatgatacccatgcatacaatgtggcagat
tttgagtcactctccaggatagtggatgatctcaccattaatttgtgtaacagtgtcaaa
ggtccaggtgatttggaagcaccttctaacttagttatttctgagcgaacccatcgttct
tttagagtgagctggacaccaccttctgacagtgtggatcgatataaggtggaatactat
ccagtttctggagggaaacgtcaagaattttatgtgagtcgaatggaaactagcacagtg
ctgaaagatctgaaacctgaaactgaatatgttgtcaatgtgtattctgtggtagaagat
gaatatagtgagcctctgaaggggacagaaaaaaccttgccagtgcctgtagtcagcctg
aatatttatgatgttggccctaccaccatgcatgtgcagtggcagcctgtgggaggagct
actggctacatcttgtcatacaaacctgttaaggacacagagccaacaagacccaaagag
gtgcgtttggggccaacagtgaatgacatgcagctgactgaccttgttcccaacacggag
tatgcagtcacagtccaggctgtcctgcacgacctcactagtgaacctgtcactgttcgg
gaagtcaccttgcctttacccagacctcaggatctgaaactcagagatgtgactcacagc
actatgaatgtcttttgggaacctgtgcctggaaaagtgcgtaaatatattgttcgatac
aaaacaccagaagaggatgtcaaagaggtagaggtggacagatcagagaccagcacttcc
ctcaaagacctcttctcacagaccttgtacacagtcagcgtttctgcagtacatgacgag
ggggagtctcctccagtgactgctcaagaaactacccgacccgtgccagccccaacaaac
ttaaagattactgaagtaacatcagagggtttcagagggacttgggatcatggagcttca
gatgtgtctctctacagaataacttgggcaccttttggaagctcagataagatggagacc
atcttaaatggagatgaaaacactttggtgttcgaaaacctgaaccccaacaccatctat
gaagtttccattactgccatctatcctgatgagtcagaaagtgatgacctgattggcagt
gagcgcacactgcctatcttaacaacacaagctcccaaaagtggcccacgaaaccttcaa
gtgtacaatgcaacatctaacagcctgactgttaagtgggatcctgctagtggtcgtgtg
cagaaatataggatcacttatcagccttccacaggggaaggcaatgagcaaacgaccaca
ataggaggacggcagaacagtgtggtcctgcagaaactgaagccagacactccttacact
atcaccgtatcctctctgtatcctgatggtgaaggaggtcggatgacgggaagaggcaag
accaaacctctaaacactgtaaggaacctgagagtgtatgacccttctaccagcaccttg
aatgtccgctgggaccatgcagagggaaatcctcgtcagtacaagctcttctatgcacca
gcagcaggtggtccagaggaactggtaccaatccccgggaataccaattatgccattctt
aggaatctgcagccagatacctcatacactgtgactgtagttcccgtttatactgaaggt
gatgggggacgcacatcagatactggaaggacattgatgagaggactggcaagaaatgtc
caagtatacaatcctacacctaacagcctcgatgttcgctgggaccctgctccaggacct
gtgctgcaatatcgcgttgtgtattctcctgtggatggcacaagaccctcagaatctata
gtagtgccaggaaacacgcgcatggtgcatctggagcggctgattccggacacactctat
tccgtgaaccttgtggctctgtactcggatggagagggaaatcccagccctgcccagggc
cgaacgctaccacgcagtggaccaaggaacctgagagtctttggtgaaacaaccaatagc
ctctcggtagcctgggatcatgctgatgggccagttcagcagtacaggatcatctattct
cccactgttggtgatccaattgatgaatataccacagtcccaggcagaagaaacaatgta
atactgcagcccctgcaacctgacactccatataaaattactgttattgctgtttatgaa
gatggagatggtggccatctaacaggaaatggaagaactgtgggactccttcctcctcag
aacatacacatctctgacgaatggtatacaagattcagggtgtcctgggatccttcacct
tctccagttcttggatataaaatagtatataagccagtgggttccaatgagcccatggaa
gcctttgttggagaaatgacatcatataccttacacaatctcaatcccagcaccacctac
gatgtgaatgtttatgctcaatatgattctggactcagtgtccccttgacagatcaaggc
actacattatatttaaatgtaacagatctgaaaacttaccagattgggtgggatacattc
tgtgtcaaatggtcacctcaccgggcagccacctcctacaggctaaaactaagccctgca
gatggaacaaggggacaagaaattacagtgcgtggatcagaaaccagtcactgcttcact
ggcctttcaccagacactgattatggtgtcactgtttttgtgcagacaccaaatctcgag
ggaccaggagtctctgttaaagaacataccactgtgaaaccaacagaagcccctacagag
ccacccacacctcctccccctcccaccattccaccagcccgggatgtatgcaaaggggcc
aaggcagatattgtgttcttgactgatgcctcctggagcattggggacgataattttaac
aaagttgtaaaattcatcttcaatactgtgggaggctttgatgaaatcagtcctgctggg
attcaggtttcatttgtgcaatacagcgatgaggtcaagtctgagttcaagctgaacacg
tacaatgacaaggccctagcccttggggccctccagaatattaggtacagaggaggaaac
acaagaacaggcaaggccctcacgtttatcaaggagaaagtcttgacttgggagagcggc
atgaggaagaatgtccctaaggtgttggttgtggtcacggacggtcggtcccaggatgag
gtcaagaaggcggctttggtcatccagcagtcagggttcagtgtctttgtagttggtgtg
gctgatgtcgactacaatgagcttgccaacattgccagcaaaccaagtgaacggcacgtg
ttcattgtggacgactttgaatcttttgagaagatcgaagacaatcttattacatttgtt
tgtgaaactgccacttcaagttgtcctctcatttatttggatggctacacctcaccaggt
tttaaaatgcttgaagcatacaacctgacagaaaagaattttgcttctgtacaaggagta
tctttggagtcagggtctttccccagctactcagcatacaggattcagaagaatgcgttt
gtgaatcagcctacagcagacctacacccaaatggactccctccttcatacacgattata
ttattattcagacttctcccagaaactcccagtgacccttttgcaatttggcaaatcaca
gacagagactacaaaccacaagttggagtgattgcagatccttctagcaagacgttatca
ttctttaacaaggatacaagaggcgaggtgcaaactgttacatttgacacagaagaagta
aagacattattttatggaagttttcacaaggttcatattgtagtgacctcaaaaagtgtt
aagatttacattgactgctatgaaattatagaaaaagacatcaaggaagctggaaatata
acaactgatggttatgaaattcttggaaaactccttaaaggggaaaggaaatcagccgca
ttccaaatccagagttttgacattgtctgcagtccagtgtggaccagtagagacagatgc
tgtgatattccctctaggagagatgagggaaaatgccctgcttttccaaattcttgcaca
tgtacacaggacagcgttggacctccaggacctccaggccctgcaggaggacctggtgct
aaaggtcccagaggtgaaagaggtatcagtggggcaattgggccccctggtcctcgtgga
gacataggtcctccaggcccccagggtcctccaggccctcagggacccaatggactctct
attccgggagagcaaggtcgccaagggatgaaaggtgatgctggagagccaggacttcca
ggccgaacaggaaccccaggattacctggcccaccaggaccaatgggacctccaggagac
agaggcttcactggaaaagacggtgcaatgggacccaggggcccaccagggccgccggga
agcccaggctccccaggagtcacaggaccaagtgggaagccaggaaaacctggagatcat
ggcagaccaggtccatctgggttgaaaggagaaaaaggtgataggggagacattgcttcc
cagaacatgatgcgagcagttgcaagacaagtctgtgaacaattgataagtggtcagatg
aacagattcaatcagatgctgaatcagattccaaatgattaccagtccagtcgcaaccag
ccaggcccgccgggtccaccgggacctcctggtagcgcaggagccagaggagaacctggg
cctggggggcggccaggcttcccgggcacaccagggatgcagggaccccctggggaacga
ggtttgccaggagagaaaggtgaaaggggtactggatcttcaggacctcgggggctgcct
ggccccccaggtccacaaggagaatccagaacaggtccaccagggtccacaggttcaaga
ggtccccctggcccccctggccgtcctggaaactcaggtatccgaggacccccaggtcct
cctggatactgtgattcttctcagtgtgccagcatcccatacaacgggcaaggctatcca
ggttccggctaa

KEGG   Homo sapiens (human): 1305
Entry
1305              CDS       T01001                                 

Gene name
COL13A1, CMS19, COLXIIIA1
Definition
(RefSeq) collagen type XIII alpha 1 chain
  KO
K16617  collagen type XIII alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04974  Protein digestion and absorption
Disease
H00770  Congenital myasthenic syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    1305 (COL13A1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    1305 (COL13A1)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Heparin
  Extracellular matrix molecules
   1305 (COL13A1)
SSDB
Motif
Pfam: Collagen
Other DBs
NCBI-GeneID: 1305
NCBI-ProteinID: NP_001123575
OMIM: 120350
HGNC: 2190
Ensembl: ENSG00000197467
Vega: OTTHUMG00000018394
Pharos: Q5TAT6(Tbio)
UniProt: Q5TAT6
Position
10q22.1
AA seq 717 aa
MVAERTHKAAATGARGPGELGAPGTVALVAARAERGARLPSPGSCGLLTLALCSLALSLL
AHFRTAELQARVLRLEAERGEQQMETAILGRVNQLLDEKWKLHSRRRREAPKTSPGCNCP
PGPPGPTGRPGLPGDKGAIGMPGRVGSPGDAGLSIIGPRGPPGQPGTRGFPGFPGPIGLD
GKPGHPGPKGDMGLTGPPGQPGPQGQKGEKGQCGEYPHRECLSSMPAALRSSQIIALKLL
PLLNSVRLAPPPVIKRRTFQGEQSQASIQGPPGPPGPPGPSGPLGHPGLPGPMGPPGLPG
PPGPKGDPGIQGYHGRKGERGMPGMPGKHGAKGAPGIAVAGMKGEPGIPGTKGEKGAEGS
PGLPGLLGQKGEKGDAGNSIGGGRGEPGPPGLPGPPGPKGEAGVDGQVGPPGQPGDKGER
GAAGEQGPDGPKGSKGEPGKGEMVDYNGNINEALQEIRTLALMGPPGLPGQIGPPGAPGI
PGQKGEIGLPGPPGHDGEKGPRGKPGDMGPPGPQGPPGKDGPPGVKGENGHPGSPGEKGE
KGETGQAGSPGEKGEAGEKGNPGAEVPGLPGPEGPPGPPGLQGVPGPKGEAGLDGAKGEK
GFQGEKGDRGPLGLPGASGLDGRPGPPGTPGPIGVPGPAGPKGERGSKGDPGMTGPTGAA
GLPGLHGPPGDKGNRGERGKKGSRGPKGDKGDQGAPGLDAPCPLGEDGLPVQGCWNK
NT seq 2154 nt   +upstreamnt  +downstreamnt
atggtagcggagcgcacccacaaagcggcagccaccggtgcccgcggccctggggagttg
ggcgcgcccgggacggtggctctggtggcggcgcgggcggagcgcggcgcacggctgccg
agtccagggtcgtgcgggctgctgacgctggccctctgctcgctggcactcagcctgctc
gcccactttcggacggccgagctgcaggcccgggtgctgcgcctggaagcggagcgcggg
gagcagcaaatggagacggctattttgggacgagtcaatcaactgctggacgagaaatgg
aagctccactcaaggaggcgccgggaggccccaaagacatctccaggatgtaactgccca
ccaggacctcctggtcccactggaagacccggactcccaggggacaaaggtgccattggg
atgcctggacgtgtggggtcccccggagacgctgggctgtccatcattggtccccgcggc
ccccctggtcaaccaggaactagaggtttccctggatttccgggtcccattgggctggac
ggcaaaccgggccacccaggaccaaagggcgacatgggtctgacgggtcccccaggacag
ccgggaccccagggacaaaaaggagaaaagggtcagtgtggagagtacccacaccgggag
tgcctaagcagcatgccagcagctctgcgctccagccaaataattgccctgaagctgctg
cctctcctcaattcagtgcgactggctccacccccggtcataaaaaggcggacgttccag
ggcgaacagagccaggccagcatccaaggtccaccagggcccccaggcccccctggacca
agtggacctctggggcacccaggactgccagggcctatggggccacctggcttacctggg
cctcctggaccaaagggagacccagggatccagggctaccacggccggaagggagaacgg
ggcatgccagggatgccaggcaagcatggagccaagggggcgcccggaattgccgtggct
gggatgaagggtgagccagggatcccaggaaccaagggtgagaagggggctgaaggctcc
cctgggcttcctggcctcctggggcagaagggagagaaaggcgatgctggcaactccatt
ggaggaggcagaggggaacctggccctccagggctccctgggcccccagggccaaaggga
gaagcaggtgtcgatggccaggttggccccccagggcagccaggagacaagggggagcgt
ggagcagctggagaacagggaccagatggccccaagggctccaagggagaaccagggaaa
ggagagatggtggattacaatggaaacatcaatgaggctctccaggagatccggacgctg
gccttgatggggcctcctggtcttcctgggcaaattggcccacctggagctccagggatt
ccaggccagaagggggagattggactgccaggccctccaggacacgatggggaaaaggga
cctcgcggtaaaccaggagacatgggccctcctggtccccaaggccccccaggaaaggat
ggacctccaggagtgaagggagaaaacgggcacccagggagcccaggagagaagggggaa
aaaggggagacaggacaagcaggctcaccgggagagaaaggagaagccggggagaagggc
aatccaggagcagaggttcctgggctgccagggccagaggggcctcccggacctccgggg
ctccaaggtgttcctggaccaaagggggaagcaggactagatggagcaaaaggagagaaa
ggcttccagggagaaaaaggagaccgtggtcccctgggactacccggagcttcaggtttg
gacggcaggcctgggccaccgggtactccaggaccaattggagttccaggcccagcggga
ccaaagggcgagaggggcagcaaaggagaccctgggatgacaggaccaacgggagcagct
gggcttcctggtttacatggaccacccggggacaagggaaaccggggggagagggggaag
aaaggctctagagggcctaaaggggataagggagaccaaggagcgcctggattagatgcc
ccctgcccattgggcgaagatggcttaccagtccaaggctgctggaacaagtga

KEGG   Homo sapiens (human): 1306
Entry
1306              CDS       T01001                                 

Gene name
COL15A1
Definition
(RefSeq) collagen type XV alpha 1 chain
  KO
K08135  collagen type XV alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04974  Protein digestion and absorption
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    1306 (COL15A1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   00535 Proteoglycans [BR:hsa00535]
    1306 (COL15A1)
Proteoglycans [BR:hsa00535]
 Extracellular matrix (ECM) proteoglycans
  Basement membrane proteoglycans
   1306 (COL15A1)
SSDB
Motif
Pfam: Endostatin Collagen Laminin_G_3 Laminin_G_2
Other DBs
NCBI-GeneID: 1306
NCBI-ProteinID: NP_001846
OMIM: 120325
HGNC: 2192
Ensembl: ENSG00000204291
Vega: OTTHUMG00000020351
Pharos: P39059(Tbio)
UniProt: P39059 B3KTP7
Structure
PDB: 
3N3F

Position
9q22.33
AA seq 1388 aa
MAPRRNNGQCWCLLMLLSVSTPLPAVTQTRGATETASQGHLDLTQLIGVPLPSSVSFVTG
YGGFPAYSFGPGANVGRPARTLIPSTFFRDFAISVVVKPSSTRGGVLFAITDAFQKVIYL
GLRLSGVEDGHQRIILYYTEPGSHVSQEAAAFSVPVMTHRWNRFAMIVQGEEVTLLVNCE
EHSRIPFQRSSQALAFESSAGIFMGNAGATGLERFTGSLQQLTVHPDPRTPEELCDPEES
SASGETSGLQEADGVAEILEAVTYTQASPKEAKVEPINTPPTPSSPFEDMELSGEPVPEG
TLETTNMSIIQHSSPKQGSGEILNDTLEGVHSVDGDPITDSGSGAGAFLDIAEEKNLAAT
AAGLAEVPISTAGEAEASSVPTGGPTLSMSTENPEEGVTPGPDNEERLAATAAGEAEALA
SMPGEVEASGVAPGELDLSMSAQSLGEEATVGPSSEDSLTTAAAATEVSLSTFEDEEASG
VPTDGLAPLTATMAPERAVTSGPGDEEDLAAATTEEPLITAGGEESGSPPPDGPPLPLPT
VAPERWITPAQREHVGMKGQAGPKGEKGDAGEELPGPPEPSGPVGPTAGAEAEGSGLGWG
SDVGSGSGDLVGSEQLLRGPPGPPGPPGLPGIPGKPGTDVFMGPPGSPGEDGPAGEPGPP
GPEGQPGVDGATGLPGMKGEKGARGPNGSVGEKGDPGNRGLPGPPGKKGQAGPPGVMGPP
GPPGPPGPPGPGCTMGLGFEDTEGSGSTQLLNEPKLSRPTAAIGLKGEKGDRGPKGERGM
DGASIVGPPGPRGPPGHIKVLSNSLINITHGFMNFSDIPELVGPPGPDGLPGLPGFPGPR
GPKGDTGLPGFPGLKGEQGEKGEPGAILTEDIPLERLMGKKGEPGMHGAPGPMGPKGPPG
HKGEFGLPGRPGRPGLNGLKGTKGDPGVIMQGPPGLPGPPGPPGPPGAVINIKGAIFPIP
VRPHCKMPVDTAHPGSPELITFHGVKGEKGSWGLPGSKGEKGDQGAQGPPGPPLDLAYLR
HFLNNLKGENGDKGFKGEKGEKGDINGSFLMSGPPGLPGNPGPAGQKGETVVGPQGPPGA
PGLPGPPGFGRPGDPGPPGPPGPPGPPAILGAAVALPGPPGPPGQPGLPGSRNLVTAFSN
MDDMLQKAHLVIEGTFIYLRDSTEFFIRVRDGWKKLQLGELIPIPADSPPPPALSSNPHQ
LLPPPNPISSANYEKPALHLAALNMPFSGDIRADFQCFKQARAAGLLSTYRAFLSSHLQD
LSTIVRKAERYSLPIVNLKGQVLFNNWDSIFSGHGGQFNMHIPIYSFDGRDIMTDPSWPQ
KVIWHGSSPHGVRLVDNYCEAWRTADTAVTGLASPLSTGKILDQKAYSCANRLIVLCIEN
SFMTDARK
NT seq 4167 nt   +upstreamnt  +downstreamnt
atggcaccaaggaggaacaacgggcagtgctggtgtctgctgatgctgctctcggtctcc
acgcccctccctgctgtcacccagacccgcggtgcgacagagactgcttcccagggtcac
ctggacctcacgcagctcatcggtgtcccgctgccctcgtccgtatcctttgtcacaggc
tatggtggcttcccggcctacagtttcgggcctggtgccaatgttggccgcccagccagg
actctcatcccatccaccttcttcagggacttcgccatcagcgtcgtggtgaagcccagc
agcacccgtggtggcgtgctcttcgccatcactgacgccttccagaaggtcatctacctg
ggcctgcggctctcaggtgtggaggacggccaccagcggatcatcctctactacacggag
ccaggctcccatgtgtcccaagaggctgctgccttctcggtgcctgtgatgacccacagg
tggaaccgcttcgccatgattgtccagggtgaggaagtgaccctcctcgtgaactgtgag
gagcacagccgcatccccttccagcggtcctcccaggctttggcttttgagtccagcgct
ggaatcttcatgggcaatgcaggagctacagggctcgagagattcactggctccctccag
cagctcaccgtgcaccccgaccccaggactcccgaggagctgtgtgaccctgaagagtcc
tcggcatctggagagaccagtgggctgcaggaggcagacggagtagctgagatcttagaa
gccgtcacctacactcaagcctcgcccaaagaagcaaaagttgaacccataaacacacct
ccaactccatcctccccctttgaagacatggaactttctggtgaacctgtacccgagggg
accctggaaaccaccaacatgagcatcatccagcacagcagccccaaacaagggtctggt
gagatcctgaatgacacactggagggggttcattctgtggatggtgaccccattactgac
agcggctcaggggctggggccttccttgacattgctgaagaaaagaatttagcagcaaca
gcagcggggctggccgaggtgcccatcagcactgctggagaagcagaggccagcagtgtg
cccaccgggggaccaaccctctctatgtccacggagaacccagaggaaggggtcactcca
ggtccagataatgaagagcgtttagcagcaacagcagcaggggaggccgaggcactcgcc
agcatgcctggggaagtggaggccagtggtgtggcccccggggagctggacctctccatg
tccgcccagagcctcggggaagaggccactgtgggtccaagcagtgaagacagtttaaca
acagctgcagctgcaaccgaagtgtccctcagtacttttgaggatgaggaagccagtggg
gtccccacagatggcctggctcccctcacagccaccatggcccctgagcgggcagtcact
tctggtcctggtgatgaagaagacttggcagcagccacaacagaggagcccctcatcaca
gctgggggtgaagagtccggcagccctccccctgatgggccaccgctgcccctgcccaca
gtggctcctgaaagatggatcactccagctcaaagagaacatgtgggaatgaaaggacag
gctgggcccaaaggagaaaagggtgatgctggggaggagcttcctggccctcctgaacct
tctgggcctgttggacccacggcaggagcagaagcagagggctctggcctaggctggggc
tcggacgtcggctctggctctggtgacctggtgggcagtgagcagctgctgagaggtcct
ccaggacccccagggccacctggcttacctgggattccaggaaaaccaggaactgatgtt
ttcatgggaccccctggatctcctggagaggatggacctgctggtgaacctgggcccccg
ggccctgagggacagcctggagttgatggagccaccggccttcccgggatgaaaggggag
aagggagcaagagggcctaatggctcagttggtgaaaagggtgaccctggcaacagaggc
ttacctggacccccggggaaaaagggacaagctggccctcctggggtcatgggaccccca
gggcctcctggaccccctgggcccccaggccctggatgcacaatgggacttggattcgag
gataccgaaggctctggaagcacccagctattgaatgaacccaaactctccagaccaacg
gctgcaattggtctcaaaggagagaaaggagaccggggacccaagggagaaagggggatg
gatggagccagtattgtgggaccccctgggccgagagggccacctgggcacatcaaggtc
ttgtctaattccttgatcaatatcacccatggattcatgaatttctcggacattcctgag
ctggtggggcctccggggccggacgggttgcctgggctgccaggatttccaggtcctaga
ggaccaaaaggtgacactggtttacctggctttccaggactaaaaggagaacagggcgag
aagggagagccgggtgccatcctgacagaggacattcctctggaaaggctgatggggaaa
aagggtgaacctggaatgcatggagccccaggaccaatggggcccaaaggaccaccagga
cataaaggagaatttggccttcccgggcgacctggtcgcccaggactgaatggcctcaag
ggtaccaaaggagatccaggggtcattatgcagggcccacctggcttacctggccctcca
ggcccccctgggccacctggagctgtgattaacatcaaaggagccattttcccaataccc
gtccgaccacactgcaaaatgccagttgatactgctcatcctgggagtccagagctcatc
acttttcacggtgttaaaggagagaaaggatcctggggtcttcctggctcaaagggagaa
aaaggcgaccagggagcccagggaccaccaggtcctccacttgatctagcttacctgaga
cactttctgaacaacttgaagggggagaatggagacaaggggttcaaaggtgaaaaagga
gaaaaaggagacattaatggcagcttccttatgtctgggcctccaggcctgcccggaaat
ccaggcccggctggccaaaaaggggagacagtcgttgggccccaaggacccccaggtgct
cctggtctgcctgggccacctggctttggaagacctggtgatcctgggccaccggggccc
ccggggccaccaggacctccagctatcctgggagcagctgtggcccttccaggtccccct
ggccctccaggacagccagggcttcccggatccagaaacctggtcacagcattcagcaac
atggatgacatgctgcagaaagcgcatttggttatagaaggaacattcatctacctgagg
gacagcactgagtttttcattcgtgttagagatggctggaaaaaattacagctgggagaa
ctgatccccattcctgccgacagccctccaccccctgcgctttccagcaacccacatcag
cttctgcctccaccaaaccctatttcaagtgccaattatgagaagcctgctctgcatttg
gctgctctgaacatgccattttctggggacattcgagctgattttcagtgcttcaagcag
gccagagctgcaggactgttgtccacctaccgagcattcttatcttcccatttgcaagat
ctgtccaccattgtgaggaaagcagagagatacagccttcccatagtgaacctcaagggc
caagtactttttaataattgggactcaattttttctggccacggaggtcagttcaatatg
catattccaatatactcctttgatggtcgagacataatgacagatccttcttggccccag
aaagtcatttggcatggctccagcccccatggcgtccgccttgtggataactactgtgaa
gcatggcgaaccgcggacacagcggtcacgggacttgcctccccgctgagcacggggaag
attctggaccagaaagcatacagctgtgctaatcggctaattgtcctatgtatcgaaaac
agtttcatgacagacgctaggaagtaa

KEGG   Homo sapiens (human): 1308
Entry
1308              CDS       T01001                                 

Gene name
COL17A1, BA16H23.2, BP180, BPA-2, BPAG2, ERED, LAD-1
Definition
(RefSeq) collagen type XVII alpha 1 chain
  KO
K07603  collagen type XVII alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04974  Protein digestion and absorption
Disease
H00586  Epidermolysis bullosa, junctional
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    1308 (COL17A1)
SSDB
Motif
Pfam: Collagen DUF2868
Other DBs
NCBI-GeneID: 1308
NCBI-ProteinID: NP_000485
OMIM: 113811
HGNC: 2194
Ensembl: ENSG00000065618
Vega: OTTHUMG00000018998
Pharos: Q9UMD9(Tbio)
UniProt: Q9UMD9
Position
10q25.1
AA seq 1497 aa
MDVTKKNKRDGTEVTERIVTETVTTRLTSLPPKGGTSNGYAKTASLGGGSRLEKQSLTHG
SSGYINSTGSTRGHASTSSYRRAHSPASTLPNSPGSTFERKTHVTRHAYEGSSSGNSSPE
YPRKEFASSSTRGRSQTRESEIRVRLQSASPSTRWTELDDVKRLLKGSRSASVSPTRNSS
NTLPIPKKGTVETKIVTASSQSVSGTYDATILDANLPSHVWSSTLPAGSSMGTYHNNMTT
QSSSLLNTNAYSAGSVFGVPNNMASCSPTLHPGLSTSSSVFGMQNNLAPSLTTLSHGTTT
TSTAYGVKKNMPQSPAAVNTGVSTSAACTTSVQSDDLLHKDCKFLILEKDNTPAKKEMEL
LIMTKDSGKVFTASPASIAATSFSEDTLKKEKQAAYNADSGLKAEANGDLKTVSTKGKTT
TADIHSYGSSGGGGSGGGGGVGGAGGGPWGPAPAWCPCGSCCSWWKWLLGLLLTWLLLLG
LLFGLIALAEEVRKLKARVDELERIRRSILPYGDSMDRIEKDRLQGMAPAAGADLDKIGL
HSDSQEELWMFVRKKLMMEQENGNLRGSPGPKGDMGSPGPKGDRGFPGTPGIPGPLGHPG
PQGPKGQKGSVGDPGMEGPMGQRGREGPMGPRGEAGPPGSGEKGERGAAGEPGPHGPPGV
PGSVGPKGSSGSPGPQGPPGPVGLQGLRGEVGLPGVKGDKGPMGPPGPKGDQGEKGPRGL
TGEPGMRGLPGAVGEPGAKGAMGPAGPDGHQGPRGEQGLTGMPGIRGPPGPSGDPGKPGL
TGPQGPQGLPGTPGRPGIKGEPGAPGKIVTSEGSSMLTVPGPPGPPGAMGPPGPPGAPGP
AGPAGLPGHQEVLNLQGPPGPPGPRGPPGPSIPGPPGPRGPPGEGLPGPPGPPGSFLSNS
ETFLSGPPGPPGPPGPKGDQGPPGPRGHQGEQGLPGFSTSGSSSFGLNLQGPPGPPGPQG
PKGDKGDPGVPGALGIPSGPSEGGSSSTMYVSGPPGPPGPPGPPGSISSSGQEIQQYISE
YMQSDSIRSYLSGVQGPPGPPGPPGPVTTITGETFDYSELASHVVSYLRTSGYGVSLFSS
SISSEDILAVLQRDDVRQYLRQYLMGPRGPPGPPGASGDGSLLSLDYAELSSRILSYMSS
SGISIGLPGPPGPPGLPGTSYEELLSLLRGSEFRGIVGPPGPPGPPGIPGNVWSSISVED
LSSYLHTAGLSFIPGPPGPPGPPGPRGPPGVSGALATYAAENSDSFRSELISYLTSPDVR
SFIVGPPGPPGPQGPPGDSRLLSTDASHSRGSSSSSHSSSVRRGSSYSSSMSTGGGGAGS
LGAGGAFGEAAGDRGPYGTDIGPGGGYGAAAEGGMYAGNGGLLGADFAGDLDYNELAVRV
SESMQRQGLLQGMAYTVQGPPGQPGPQGPPGISKVFSAYSNVTADLMDFFQTYGAIQGPP
GQKGEMGTPGPKGDRGPAGPPGHPGPPGPRGHKGEKGDKGDQVYAGRRRRRSIAVKP
NT seq 4494 nt   +upstreamnt  +downstreamnt
atggatgtaaccaagaaaaacaaacgagatggaactgaagtcactgagagaattgtcact
gaaacagtaaccacaagacttacatccttaccaccaaaaggcgggaccagcaatggctat
gctaaaacagcctctcttggtggagggagccggctggagaaacaaagcctgactcatggc
agcagcggctacataaactcaactggaagcacacgaggccatgcctccacctctagttac
aggagggctcactcacctgcctccactctgcccaactccccaggctcaacctttgaaagg
aaaactcacgttacccgccatgcgtatgaagggagctccagtggcaactcttctccggag
taccctcggaaggaatttgcatcttcttcaaccagaggacggagtcaaacacgagagagt
gaaattcgagttcgactgcagagtgcgtccccatccacccgatggacagaattggatgat
gttaagcgtttgctcaaggggagtcgatcggcaagtgtgagccccacccggaattcctcc
aacacactccccatccccaagaaaggcactgtggagaccaaaattgtgacagcgagctcc
cagtcggtgtcaggcacctacgatgcaacgatcctggatgccaaccttccctcccatgtg
tggtcctccaccctgcccgcggggtcctccatggggacctatcacaacaacatgacaacc
cagagctcatccctcctcaacaccaatgcctactctgcgggatcagtcttcggagttcca
aacaacatggcgtcctgctcacccactttgcaccctggactcagcacatcctcctcagtg
tttggcatgcagaacaatctggcccccagcttgaccaccctgtcccatggcaccaccacc
acttccacagcatatggggtgaagaaaaacatgccccagagtcctgcggctgtgaacact
ggcgtttccacctccgccgcctgcaccacaagtgtgcagagcgatgaccttttgcacaag
gactgcaagttcctgatcctagagaaagacaacacacctgccaagaaggagatggagctg
ctcatcatgaccaaggacagcgggaaggtctttacagcctcccctgccagcatcgctgca
acttctttttcagaagacaccctaaaaaaagaaaagcaagctgcctacaatgctgactca
ggcctaaaagccgaagctaatggagacctgaagactgtgtccacaaagggcaagaccacc
actgcagatatccacagctacggcagcagtggtggtggtggcagtggaggaggtggcggt
gttggtggcgctggcggcggcccttggggaccagcgccagcctggtgcccctgcggctcc
tgctgcagctggtggaagtggctgctgggcctgctgctcacctggctgctactcctgggg
ctgctcttcggcctcattgctctggcggaggaggtgaggaagctgaaggcgcgtgtggat
gagctggagaggatcaggaggagcatactgccctatggggacagcatggatagaatagaa
aaggaccgcctccagggcatggcacccgcggcgggagcagacctggacaaaattgggctg
cacagtgacagccaggaggagctctggatgttcgtgaggaagaagctaatgatggaacag
gaaaatggaaatctccgaggaagccctggccctaaaggtgacatgggaagtccaggccct
aaaggagatcgagggttccctgggactccaggtatccctgggcccttgggccacccaggt
ccacaaggaccaaagggtcaaaaaggcagcgtgggagatcctggcatggaaggccccatg
ggccagagagggcgagaaggccccatgggacctcgtggtgaggcagggcctcctggatct
ggagagaaaggggaaagaggggctgctggtgaaccaggtcctcatggcccacctggtgtc
ccaggttctgtgggtcccaaaggttccagcggctctcctggcccacagggccctccaggt
cctgtaggtctccaagggctccgaggtgaagtaggacttcctggtgtcaaaggtgacaaa
ggaccaatgggaccaccaggacccaaaggtgaccagggtgagaaaggacctcgaggcctc
acaggcgagcctggcatgagaggtttgcctggtgctgttggtgagcccggggctaaagga
gcaatgggtcctgctggcccagacggacaccaaggcccaagaggtgaacaaggtcttact
gggatgcctggaatccgtggcccaccaggaccttctggagacccaggaaagccaggtctc
acaggaccccagggacctcagggacttcccggtacccctggccgaccaggaataaaaggt
gaaccaggagctccaggcaagatcgtgacttcggaggggtcatcgatgctcactgtccca
ggccccccaggacctcctggagccatgggacccccaggacctccaggtgccccaggccct
gccggcccagctggtctcccaggacatcaagaagttcttaatttacaaggtcccccaggc
ccacccggcccacgcgggccaccagggccttccattccaggcccaccaggaccccgaggc
ccaccaggggagggtttgccaggcccaccaggcccaccaggatcgttcctgtccaactca
gaaaccttcctctccggccccccaggcccacctggccccccaggtcccaagggagaccaa
ggtcccccaggccccagaggacaccaaggcgagcaaggcctcccaggtttctcaacctca
gggtccagttctttcggactcaaccttcagggaccaccaggcccacctggcccccaggga
cccaaaggtgacaaaggtgatccaggtgttccaggggctcttggcattcctagtggtcct
tctgaagggggatcatcaagtaccatgtacgtgtcaggcccgccagggccccctgggccc
cctgggcctccgggctctatcagcagctctggccaggagattcagcagtacatctctgag
tacatgcagagtgacagtattagatcttacctatccggagttcagggtcccccaggccca
cctggtcccccaggacctgtcaccaccatcacaggcgagactttcgactactcagagctg
gcaagccacgttgtgagctacttacggacttcggggtacggtgtcagcttgttctcgtcc
tccatctcttctgaagacattctggctgtgctgcagcgggatgacgtgcgtcagtaccta
cgtcagtacttgatgggccctcggggtccgccagggccaccaggagccagtggagatggg
tccctcctgtctttggactatgcagagctgagtagtcgcattctcagctacatgtcgagt
tctgggatcagcattgggcttcctggtcccccggggccccctggcttgccgggaacctcc
tatgaggagctcctctccttgctgcgagggtctgaattcagaggcatcgttggaccccca
ggtcccccgggtccaccagggatcccaggcaatgtgtggtccagcatcagcgtggaggac
ctctcgtcttacttacatactgccggcttgtcattcatcccaggccctccaggacctcct
ggtcccccagggcctcgagggcccccgggtgtctcaggagccctggcaacctatgcagct
gaaaacagcgacagcttccggagcgagctgatcagctacctcacaagtcctgatgtgcgc
agcttcattgttggccccccaggccctcctgggccgcagggaccccctggggacagccgc
ctcctgtccacggatgcctcccacagtcggggtagcagctcctcctcacacagctcatct
gtcaggcggggcagctcctacagctcttccatgagcacaggaggaggtggtgcaggctcc
ctgggtgcaggcggtgcctttggtgaagctgcaggagacaggggtccctatggcactgac
atcggcccaggcggaggctatggggcagcagcagaaggcggcatgtatgctggcaatggc
ggactattgggagctgactttgctggagatctggattacaatgagctggctgtgagggtg
tcagagagcatgcagcgtcagggcctactgcaagggatggcctacactgtccagggccca
ccaggccagcctgggccacaggggccacccggcatcagcaaggtcttctctgcctacagc
aacgtgactgcggacctcatggacttcttccaaacttatggagccattcaaggaccccct
gggcaaaaaggagagatgggcactccaggacccaaaggtgacaggggccctgctgggcca
ccaggtcatcctgggccacctggccctcgaggacacaagggagaaaaaggagacaaaggt
gaccaagtctatgctgggcggagaaggagaagaagtattgctgtcaagccgtga

KEGG   Homo sapiens (human): 131873
Entry
131873            CDS       T01001                                 

Gene name
COL6A6
Definition
(RefSeq) collagen type VI alpha 6 chain
  KO
K06238  collagen type VI alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04974  Protein digestion and absorption
hsa05165  Human papillomavirus infection
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04151 PI3K-Akt signaling pathway
    131873 (COL6A6)
  09133 Signaling molecules and interaction
   04512 ECM-receptor interaction
    131873 (COL6A6)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04510 Focal adhesion
    131873 (COL6A6)
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    131873 (COL6A6)
 09160 Human Diseases
  09172 Infectious disease: viral
   05165 Human papillomavirus infection
    131873 (COL6A6)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    131873 (COL6A6)
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    131873 (COL6A6)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   131873 (COL6A6)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Heparin
  Extracellular matrix molecules
   131873 (COL6A6)
 Hyaluronan
  Extracellular matrix or blood plasma proteins
   131873 (COL6A6)
SSDB
Motif
Pfam: VWA VWA_2 Collagen Radical_SAM Integrin_beta DUF5035
Other DBs
NCBI-GeneID: 131873
NCBI-ProteinID: NP_001096078
OMIM: 616613
HGNC: 27023
Ensembl: ENSG00000206384
Vega: OTTHUMG00000159653
Pharos: A6NMZ7(Tdark)
UniProt: A6NMZ7
Position
3q22.1
AA seq 2263 aa
MMLLILFLVIICSHISVNQDSGPEYADVVFLVDSSDRLGSKSFPFVKMFITKMISSLPIE
ADKYRVALAQYSDKLHSEFHLSTFKGRSPMLNHLRKNFGFIGGSLQIGKALQEAHRTYFS
APANGRDKKQFPPILVVLASSESEDNVEEASKALRKDGVKIISVGVQKASEENLKAMATS
QFHFNLRTVRDLSMFSQNMTHIIKDVIKYKEGAVDDIFVEACQGPSMADVVFLLDMSING
SEENFDYLKGFLEESVSALDIKENCMRVGLVAYSNETKVINSLSMGINKSEVLQHIQNLS
PRTGKAYTGAAIKKLRKEVFSARNGSRKNQGVPQIAVLVTHRDSEDNVTKAAVNLRREGV
TIFTLGIEGASDTQLEKIASHPAEQYVSKLKTFADLAAHNQTFLKKLRNQITHTVSVFSE
RTETLKSGCVDTEEADIYLLIDGSGSTQATDFHEMKTFLSEVVGMFNIAPHKVRVGAVQY
ADSWDLEFEINKYSNKQDLGKAIENIRQMGGNTNTGAALNFTLSLLQKAKKQRGNKVPCH
LVVLTNGMSKDSILEPANRLREEHIRVYAIGIKEANQTQLREIAGEEKRVYYVHDFDALK
DIRNQVVQEICTEEACKEMKADIMFLVDSSGSIGPENFSKMKTFMKNLVSKSQIGPDRVQ
IGVVQFSDINKEEFQLNRFMSQSDISNAIDQMAHIGQTTLTGSALSFVSQYFSPTKGARP
NIRKFLILITDGEAQDIVKEPAVVLRQEGVIIYSVGVFGSNVTQLEEISGRPEMVFYVEN
FDILQRIEDDLVFGICSPREECKRIEVLDVVFVIDSSGSIDYDEYNIMKDFMIGLVKKAD
VGKNQVRFGALKYADDPEVLFYLDDFGTKLEVISVLQNDQAMGGSTYTAEALGFSDHMFT
EARGSRLNKGVPQVLIVITDGESHDADKLNATAKALRDKGILVLAVGIDGANPVELLAMA
GSSDKYFFVETFGGLKGIFSDVTASVCNSSKVDCEIDKVDLVFLMDGSTSIQPNDFKKMK
EFLASVVQDFDVSLNRVRIGAAQFSDTYHPEFPLGTFIGEKEISFQIENIKQIFGNTHIG
AALREVEHYFRPDMGSRINTGTPQVLLVLTDGQSQDEVAQAAEALRHRGIDIYSVGIGDV
DDQQLIQITGTAEKKLTVHNFDELKKVNKRIVRNICTTAGESNCFVDVVVGFDVSTQEKG
QTLLEGQPWMETYLQDILRAISSLNGVSCEVGTETQVSVAFQVTNAMEKYSPKFEIYSEN
ILNSLKDITVKGPSLLNANLLDSLWDTFQNKSAARGKVVLLFSDGLDDDVEKLEQKSDEL
RKEGLNALITVALDGPADSSDLADLPYIEFGKGFEYRTQLSIGMRELGSRLSKQLVNVAE
RTCCCLFCKCIGGDGTMGDPGPPGKRGPPGFKGSEGYLGEEGIAGERGAPGPVGEQGTKG
CYGTKGPKGNRGLNGQEGEVGENGIDGLNGEQGDNGLPGRKGEKGDEGSQGSPGKRGTPG
DRGAKGLRGDPGAPGVDSSIEGPTGLKGERGRQGRRGWPGPPGTPGSRRKTAAHGRRGHT
GPQGTAGIPGPDGLEGSLGLKGPQGPRGEAGVKGEKGGVGSKGPQGPPGPGGEAGNQGRL
GSQGNKGEPGDLGEKGAVGFPGPRGLQGNDGSPGYGSVGRKGAKGQEGFPGESGPKGEIG
DPGGPGETGLKGARGKMISAGLPGEMGSPGEPGPPGRKGVKGAKGLASFSTCELIQYVRD
RSPGRHGKPECPVHPTELVFALDHSRDVTEQEFERMKEMMAFLVRDIKVRENSCPVGAHI
AILSYNSHARHLVRFSDAYKKSQLLREIETIPYERSSASREIGRAMRFISRNVFKRTLPG
AHTRKIATFFSSGQSADAHSITTAAMEFGALEIIPVVITFSNVPSVRRAFAIDDTGTFQV
IVVPSGADYIPALERLQRCTFCYDVCKPDASCDQARPPPVQSYMDAAFLLDASRNMGSAE
FEDIRAFLGALLDHFEITPEPETSVTGDRVALLSHAPPDFLPNTQKSPVRAEFNLTTYRS
KRLMKRHVHESVKQLNGDAFIGHALQWTLDNVFLSTPNLRRNKVIFVISAGETSHLDGEI
LKKESLRAKCQGYALFVFSLGPIWDDKELEDLASHPLDHHLVQLGRIHKPDHSYGVKFVK
SFINSIRRAINKYPPINLKIKCNRLNSIDPKQPPRPFRSFVPGPLKATLKEDVLQKAKFF
QDKKYLSRVARSGRDDAIQNFMRSTSHTFKNGRMIESAPKQHD
NT seq 6792 nt   +upstreamnt  +downstreamnt
atgatgttgctaattttgttcctcgtgataatttgttcccatatttctgtgaaccaagat
tccggccctgagtatgcagatgttgtgtttttggtggacagctctgatcgcctgggatcc
aagtccttcccatttgtgaaaatgttcatcaccaaaatgatcagcagtctccccatagag
gccgacaaataccgtgtggccctggcccagtacagtgataaacttcacagtgaattccac
ctgagcaccttcaaaggcaggagccccatgctgaaccacctaaggaagaactttggattc
attggcgggtccctgcagataggaaaggctcttcaggaggctcacaggacttatttctct
gcacccgcaaatgggagagacaagaaacagtttcccccaattctagtggtcctggcttca
tctgagtctgaggataatgtggaagaggcatcaaaggccctgcggaaagacggagtgaaa
atcatctctgtaggggtgcagaaagcttctgaggaaaacctgaaggccatggccacgtct
cagtttcatttcaaccttcggacagtcagagacctcagcatgttttcccaaaacatgaca
cacatcatcaaggatgtaataaagtacaaggagggagcagttgatgacatctttgtagaa
gcttgccaaggcccttctatggccgatgttgtgttcctattggatatgtcaatcaatgga
agtgaggagaactttgactatcttaaaggattcttggaagaaagtgtatctgcccttgac
ataaaggaaaattgcatgagggttggccttgtggcctatagcaatgagacaaaagtgata
aattcactgagcatgggcataaataagtcagaggttctccagcatatacagaacctttct
ccccgaactgggaaggcctatactggagctgccatcaaaaagctcaggaaggaagttttt
agtgcacggaatggcagtcggaagaatcagggggtgccccagattgccgtgctggtgacc
caccgagattcagaagacaacgtgacaaaagcagctgttaacctccgacgggagggtgtg
accatcttcaccctgggcatagagggcgccagcgacacccagttggaaaagatagcatcc
caccctgctgagcagtatgtctccaaactgaagaccttcgctgacctggctgctcacaac
cagacatttctgaagaagctgcggaaccaaataacacacacagtctctgtcttttcagag
aggactgaaacgctcaaatctggttgtgtggacactgaggaagcagacatctatctgctt
atcgatggctcagggagcacccaggccacagatttccatgaaatgaagacgttcctgtca
gaggtggtagggatgttcaacattgctccccataaggtgcgggttggggccgttcagtat
gctgacagctgggacttggaatttgagatcaataaatactccaacaagcaggatttggga
aaggccattgagaatatcaggcagatgggtgggaatacaaacacaggcgcagcactgaat
ttcacactgagtctgttgcaaaaagcaaagaagcagcgaggaaacaaagttccatgccac
cttgttgtcctgacaaatggcatgtccaaggatagcatcttggagcctgcaaacagactg
agagaagagcacatccgagtttatgctatcgggatcaaggaggccaaccaaacacagctg
agagaaattgcaggagaggaaaagagagtgtattacgtgcatgactttgatgcattgaaa
gacataagaaaccaagttgttcaagaaatctgtactgaagaagcttgcaaagagatgaaa
gctgacatcatgtttctggtggacagttctggaagtataggacctgaaaacttcagcaaa
atgaaaacatttatgaaaaacctggtgagcaagtctcagattggaccagatcgggtgcaa
attggtgtagtccagttcagcgacatcaataaggaagagtttcagctcaacagattcatg
tcccaaagcgacatttcaaatgcaatagaccaaatggctcacattggacaaaccaccctg
actggtagtgccctgagctttgtgtctcagtacttcagccccaccaagggcgcccggccc
aacatcagaaagtttctcatcctcatcacggatggtgaagctcaggacatagtaaaggaa
ccagcagtagtgcttcggcaagaaggtgtaatcatctattctgtgggagtgtttggctcc
aatgtcacccagcttgaggagatcagtgggaggcccgagatggttttttatgttgagaat
tttgacattctgcagcgcattgaagatgatcttgtttttggaatatgcagcccccgtgaa
gaatgcaagcggattgaagttttagacgttgtgtttgtcattgatagctctggcagtatt
gactatgatgagtataatatcatgaaggattttatgattggcttagtgaaaaaagctgat
gtgggcaagaatcaggtccggtttggggctctgaagtatgctgatgacccagaggtgctg
ttttatctggatgactttggcacaaaactggaggtaatttcagtgctccagaatgaccaa
gccatgggtggcagtacttatactgctgaggcactgggcttctcagaccacatgttcact
gaagcccggggcagccgcctgaacaagggggtcccccaagtcctcattgtgatcaccgat
ggggaatcccatgatgctgataaactcaatgccacggcaaaggccttgcgggacaaaggc
attcttgtcctggctgtggggattgatggtgccaatcccgtggagctgttagccatggca
ggatcaagcgacaagtacttcttcgtggagacttttggaggtctgaagggaatattttca
gatgtgacagccagtgtctgcaactcttcaaaagtagattgtgaaattgacaaagtagat
cttgttttccttatggatggttcaactagcattcagccaaatgacttcaagaaaatgaag
gaatttctggcatctgttgttcaagactttgatgtcagcctcaacagagtgcgaatagga
gcggcccagtttagcgatacctatcacccggagtttccactgggaactttcataggtgaa
aaagagatatcatttcagattgaaaacatcaagcagatctttggaaacacacacatcggt
gctgcactcagggaggtggaacattacttcaggccagacatgggcagcaggataaataca
ggtaccccacaggtgctgctggtccttacagatggccagtcccaagacgaggtggcccag
gccgcggaagccctgagacacagaggtatcgacatctactccgtgggcattggggatgtg
gatgaccagcagctcattcagatcaccgggactgcagagaaaaaactgacagtgcacaac
ttcgatgaactgaagaaggtcaataaaaggatcgttcgcaacatctgtaccacagcgggt
gaaagcaactgtttcgtggatgttgtggtgggatttgatgtctcaactcaggagaaaggg
cagactttgcttgaaggtcagccttggatggaaacctaccttcaagacatcttacgtgcc
atcagctccctcaatggagtaagctgtgaggtgggcacagagactcaggtcagtgtggct
tttcaagtgaccaatgccatggaaaaatattctcccaagtttgagatctacagtgaaaac
atactgaatagcttgaaggatataacagttaaaggaccatctcttctcaatgcaaacctc
ttggattctctatgggatacatttcagaataaatcagctgctcgaggaaaggtggtcctt
ttattttcagatggattggatgatgatgttgagaaacttgaacaaaaatctgatgaactt
agaaaagaaggcctgaatgccctcataactgttgctctggatggacctgctgattcaagt
gacttggctgatcttccctatattgaatttgggaaaggatttgagtacaggacacagctc
tctattggcatgagagaacttggaagccggctgtcaaagcagctggtcaatgttgctgaa
aggacatgctgctgtttgttctgcaagtgcattggaggagatggcacaatgggagatcct
ggaccaccagggaaaaggggacctccaggttttaaaggcagtgaaggctacctgggagag
gagggaatcgctggagaaagaggagcccctggaccagtgggagagcaaggtactaaggga
tgctatggcaccaaaggtcctaagggaaacagaggactaaatggacaggagggagaagtt
ggggaaaatggaattgacggattaaacggagaacagggtgataatggtcttcctggaaga
aaaggagaaaagggagatgagggatctcagggaagcccagggaagagagggactcctggt
gaccgtggagcaaagggcctgcgaggggatcccggagctcctggagttgacagtagcata
gaaggacccacaggcttgaaaggagaacgtggaagacaaggcagaagaggctggccaggc
ccccccgggacaccaggctccagaagaaagacagcagctcatggcagaaggggacataca
ggcccacagggaacagcaggcatcccaggaccagatggacttgaaggctccctgggactt
aagggccctcagggcccaagaggagaggctggtgtgaaaggagaaaaaggaggtgtggga
agtaaaggtccccaggggcctccaggacccggaggagaggcagggaatcaaggccgtttg
ggaagccaaggaaataaaggagaacctggagatctgggagaaaaaggagctgttggcttt
cctggtcctcgtggcttgcagggcaatgatggcagtccaggttatggtagtgtcggacgc
aagggagcaaagggacaagaaggattccctggagaaagtggacctaagggtgagattggg
gaccctggtggtccaggagagactgggctgaagggagctagaggcaaaatgatatctgct
gggcttccaggagagatgggatcccctggggaaccaggacctcctggacgtaagggtgtg
aaaggagccaaaggcttggcttcattttctacatgtgagctcattcagtatgtgcgagac
cgcagtcctggcaggcatggaaaaccggaatgcccagtgcacccaaccgagttggtgttt
gccctggaccactcccgggatgtcactgagcaggaatttgagcggatgaaggagatgatg
gctttcctggtgagagacattaaggtccgggagaacagctgccccgtgggagcgcacatc
gccatcctctcctataactcccacgccaggcaccttgtgcgcttctcagacgcctacaag
aagagtcaacttctcagagaaattgaaactattccttatgagagatcctctgccagcagg
gagattggcagagcaatgcggtttatttccaggaatgtcttcaagcggacgcttccgggg
gcacacacgagaaaaatcgccacatttttcagcagcggtcagtccgcggatgcccactcc
atcaccacggctgccatggagttcggcgcgcttgaaatcattcccgtggtgatcactttc
agcaacgtgccctcggtcaggcgcgcatttgcgattgacgacactggcacatttcaagta
atagtggttccctccggggccgactacataccagcattagagagactccagcggtgcact
ttctgctatgatgtgtgcaagccagatgcttcttgtgaccaagccagaccaccccctgtg
cagtcttacatggatgctgctttccttctggatgcctcccggaacatgggaagtgctgaa
tttgaagacataagagccttccttggagcactattagatcactttgaaatcaccccagag
ccggagacttctgtcactggagaccgggtggccctattgagccatgctccccccgacttc
ctacccaacactcagaagagtccagttagagctgagttcaatcttaccacctacagaagt
aagcgcctcatgaagaggcatgtgcacgagtcagttaaacaactaaatggagatgctttt
attggtcatgccttacagtggactctggacaatgtatttttaagtacacccaatctgaga
agaaacaaagtcatatttgtgatatctgctggggaaaccagccacttagatggggaaatc
ttaaagaaggaatccttgcgagccaaatgtcagggatatgccttatttgtgttttccctt
ggccctatttgggatgacaaggaactggaggatctcgccagccaccctttggatcaccac
ctggtccagcttggccgaattcataaacctgaccacagttatggtgtgaagtttgtgaag
tcctttataaactcaatcaggcgtgcaatcaacaaatatccaccaataaacttaaaaata
aagtgcaacagacttaactctatagatccaaagcagcccccacgaccattccgaagcttt
gttcctggaccacttaaagctaccctcaaagaagatgtattacagaaggcaaaattcttt
caagataaaaaatatctttcaagagtagcaagaagtggcagagatgatgctattcaaaat
tttatgagaagcacctcccatacctttaagaatggaaggatgatagaaagtgctcccaaa
caacatgattaa

KEGG   Homo sapiens (human): 169044
Entry
169044            CDS       T01001                                 

Gene name
COL22A1
Definition
(RefSeq) collagen type XXII alpha 1 chain
  KO
K16630  collagen type XXII alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04974  Protein digestion and absorption
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    169044 (COL22A1)
SSDB
Motif
Pfam: Collagen VWA VWA_2 LpxI_N
Other DBs
NCBI-GeneID: 169044
NCBI-ProteinID: NP_690848
OMIM: 610026
HGNC: 22989
Ensembl: ENSG00000169436
Vega: OTTHUMG00000150035
Pharos: Q8NFW1(Tdark)
UniProt: Q8NFW1
Position
8q24.23-q24.3
AA seq 1626 aa
MAGLRGNAVAGLLWMLLLWSGGGGCQAQRAGCKSVHYDLVFLLDTSSSVGKEDFEKVRQW
VANLVDTFEVGPDRTRVGVVRYSDRPTTAFELGLFGSQEEVKAAARRLAYHGGNTNTGDA
LRYITARSFSPHAGGRPRDRAYKQVAILLTDGRSQDLVLDAAAAAHRAGIRIFAVGVGEA
LKEELEEIASEPKSAHVFHVSDFNAIDKIRGKLRRRLCENVLCPSVRVEGDRFKHTNGGT
KEITGFDLMDLFSVKEILGKRENGAQSSYVRMGSFPVVQSTEDVFPQGLPDEYAFVTTFR
FRKTSRKEDWYIWQVIDQYSIPQVSIRLDGENKAVEYNAVGAMKDAVRVVFRGSRVNDLF
DRDWHKMALSIQAQNVSLHIDCALVQTLPIEERENIDIQGKTVIGKRLYDSVPIDFDLQR
IVIYCDSRHAELETCCDIPSGPCQVTVVTEPPPPPPPQRPPTPGSEQIGFLKTINCSCPA
GEKGEMGVAGPMGLPGPKGDIGAIGPVGAPGPKGEKGDVGIGPFGQGEKGEKGSLGLPGP
PGRDGSKGMRGEPGELGEPGLPGEVGMRGPQGPPGLPGPPGRVGAPGLQGERGEKGTRGE
KGERGLDGFPGKPGDTGQQGRPGPSGVAGPQGEKGDVGPAGPPGVPGSVVQQEGLKGEQG
APGPRGHQGAPGPPGARGPIGPEGRDGPPGLQGLRGKKGDMGPPGIPGLLGLQGPPGPPG
VPGPPGPGGSPGLPGEIGFPGKPGPPGPTGPPGKDGPNGPPGPPGTKGEPGERGEDGLPG
KPGLRGEIGEQGLAGRPGEKGEAGLPGAPGFPGVRGEKGDQGEKGELGLPGLKGDRGEKG
EAGPAGPPGLPGTTSLFTPHPRMPGEQGPKGEKGDPGLPGEPGLQGRPGELGPQGPTGPP
GAKGQEGAHGAPGAAGNPGAPGHVGAPGPSGPPGSVGAPGLRGTPGKDGERGEKGAAGEE
GSPGPVGPRGDPGAPGLPGPPGKGKDGEPGLRGSPGLPGPLGTKAACGKVRGSENCALGG
QCVKGDRGAPGIPGSPGSRGDPGIGVAGPPGPSGPPGDKGSPGSRGLPGFPGPQGPAGRD
GAPGNPGERGPPGKPGLSSLLSPGDINLLAKDVCNDCPPGPPGLPGLPGFKGDKGVPGKP
GREGTEGKKGEAGPPGLPGPPGIAGPQGSQGERGADGEVGQKGDQGHPGVPGFMGPPGNP
GPPGADGIAGAAGPPGIQGSPGKEGPPGPQGPSGLPGIPGEEGKEGRDGKPGPPGEPGKA
GEPGLPGPEGARGPPGFKGHTGDSGAPGPRGESGAMGLPGQEGLPGKDGDTGPTGPQGPQ
GPRGPPGKNGSPGSPGEPGPSGTPGQKGSKGENGSPGLPGFLGPRGPPGEPGEKGVPGKE
GVPGKPGEPGFKGERGDPGIKGDKGPPGGKGQPGDPGIPGHKGHTGLMGPQGLPGENGPV
GPPGPPGQPGFPGLRGESPSMETLRRLIQEELGKQLETRLAYLLAQMPPAYMKSSQGRPG
PPGPPGKDGLPGRAGPMGEPGRPGQGGLEGPSGPIGPKGERGAKGDPGAPGVGLRGEMGP
PGIPGQPGEPGYAKDGLPGIPGPQGETGPAGHPGLPGPPGPPGQCDPSQCAYFASLAARP
GNVKGP
NT seq 4881 nt   +upstreamnt  +downstreamnt
atggccggcctccgagggaacgctgtggctggcctcctctggatgctgctgctgtggagt
gggggcggcggctgccaggctcagcgggcaggttgcaaaagtgtccactacgatctggtc
ttcctcctggacacctcctccagcgtgggcaaggaggactttgagaaggtccggcagtgg
gtggccaacctggtggacaccttcgaggtgggccccgaccgcacccgtgtgggggtcgtg
cgctacagcgaccggcccaccacggccttcgagttgggactctttggctcgcaggaggag
gtcaaggcggctgcccggcgtctcgcctaccacgggggcaacaccaacacgggagacgcg
ctccgctacatcacggcccgcagcttctccccacacgccggcggccgccccagggaccgc
gcctacaagcaggtggccatcctgctcaccgacggccgcagccaggacctggtgctggac
gccgcggcggcagcccaccgcgctggcatccgcatctttgccgtgggcgtgggcgaggca
ctcaaggaggagctggaggagatcgcctcagagcccaagtccgcccacgtcttccacgtg
tccgacttcaatgccatcgacaagatccggggcaagctgcggcgccgtctttgtgaaaat
gtgctctgtcctagcgttcgtgtagaaggagatcgctttaagcacaccaatggaggaacc
aaggaaatcacaggttttgacctgatggatttgttcagtgtgaaggaaatcttggggaag
agagagaatggagctcagagttcctatgtacggatgggatccttccctgtggtgcaaagt
actgaggatgtgttcccccaaggtttacctgatgagtacgcctttgtcacaaccttccgg
ttcaggaaaacctctcggaaggaagactggtatatctggcaggtcatcgaccagtacagc
atcccacaggtctccatccggctggatggtgaaaacaaggcagtcgagtacaacgctgtg
ggtgccatgaaagatgctgtcagggtggtcttccgaggttctcgggtcaatgacctcttt
gaccgggactggcacaagatggccctgagcatccaggcccagaacgtctccctgcacatt
gactgtgcgctggtgcagacactacccatcgaggaacgggagaacattgacatccagggc
aagactgtgattggcaagcgcctctacgacagtgtgcccattgactttgacctacagcgg
attgtgatctattgtgactcgagacacgcagaattggagacttgttgtgatatcccctcg
ggtccgtgccaggtgaccgtggtgacagagcctccacctccacccccaccccagcggcct
cccaccccaggcagtgaacagattgggtttttgaagaccatcaactgctcctgcccagct
ggagagaagggtgaaatgggagttgctggccccatggggctccctggtccaaagggagac
ataggagccattgggccggttggcgctcctggacctaagggagagaaaggtgatgtgggc
ataggaccttttggccaaggggaaaagggtgaaaagggttccctgggcctgcccggcccc
cctgggagagacggcagcaaaggcatgagaggggagccaggagagctgggagagccgggg
ctgccgggtgaggtcggcatgcgggggccccaaggaccacctggactccccggacctcct
ggacgtgtcggagctcctggtctccaaggagaacgaggtgaaaagggaactcgaggagaa
aagggagagcgaggcctggatggattccctgggaagcctggggacacaggacagcagggc
aggcccggcccttctggtgtggcaggaccccagggagaaaagggtgacgtgggacctgcg
gggccacctggtgtaccaggctcagtggtgcagcaagagggcttgaaaggggaacaggga
gctccaggacccagaggtcaccaaggcgcccccggtcctccaggagctcggggtccaata
ggcccagaaggcagggatggacctcctggtttgcaaggtctccgagggaagaaaggtgac
atgggaccacctggaatccctggattgctggggctgcagggccctccaggaccccctggt
gtcccaggcccccctggaccgggaggttctccgggtttgcctggagagatcggcttcccg
ggaaagcctggacctcctgggcccacgggaccccctggaaaggacgggccaaatggacca
ccaggtccgccaggaaccaagggagaaccaggagaaagaggggaagatggtctgcctgga
aaaccaggccttcggggagaaattggggagcagggcctggcaggccgacctggagagaag
ggagaagcaggcctcccaggggctccaggcttcccaggtgtgagaggagagaaaggagac
cagggagaaaaaggtgaactgggacttccaggactgaaaggtgaccgaggtgaaaagggt
gaagctggtcctgcaggccctcccgggttacctggaactacatccctgttcacaccacat
ccacggatgcccggagaacaagggcccaaaggagagaagggcgatccaggcctgcctggg
gaaccgggactgcagggccgtcctggagaattggggcctcagggacccactggaccaccg
ggtgccaagggacaggaaggtgcacatggggctcctggagcagctggaaaccccggtgct
cccggacatgtcggtgcccccggtcccagtggccctccaggaagtgtgggtgctcccggc
ctcagaggcaccccagggaaagatggggagcgtggtgagaagggtgcagcgggggaagaa
ggcagcccagggccagttggtcccaggggagatcctggtgctcctgggctccctgggcca
cccggaaaagggaaggatggagagccgggactccgtggatcacctggactccctggaccc
ctaggaaccaaggctgcttgcggaaaagtcagagggtcagaaaactgtgcactgggaggg
caatgtgttaagggggatcgaggagctcctgggatccctggttctcctggcagccgtggt
gacccaggcattggggttgctggccctcctggcccttccggaccaccaggagacaaagga
tccccgggatcacgaggcttacctggattccctggcccccagggcccagccggccgggac
ggtgcaccaggaaatccaggagaaagagggcctcctggcaagccgggcctctcttcacta
ctgtctccaggggacataaatctcttggctaaggatgtgtgcaatgactgccctcctggc
cccccaggcctccctggtctaccaggttttaaaggggacaaaggtgtcccaggaaagcca
gggagagaaggcacagaagggaaaaagggagaggctgggcctccaggcctaccagggccc
ccaggaatagctggaccacagggaagtcaaggagaacgtggtgcagatggtgaggttggg
cagaaaggtgatcagggtcatcctggagttccaggtttcatggggcccccagggaaccct
gggccaccaggggcagatggaattgcaggagctgctggaccaccaggaatccaagggtca
cctgggaaagaaggccctcctggcccccaaggcccatctggattacccggaatcccagga
gaagaaggcaaagagggcagagatggaaagccgggtccccctggagagccgggcaaagca
ggagagccaggtctaccaggaccagagggtgcccgaggcccacctggcttcaagggacac
acaggcgattctggtgcacccggtccccggggagagtctggtgccatggggcttcctggt
caggaagggttaccaggaaaagatggtgacactggacccactgggccacagggtccccaa
ggaccaaggggcccaccgggcaagaatggatcaccgggatctccaggagagcctggccct
tcaggaacccctggccagaaaggaagcaaaggggaaaatggcagcccaggacttcctggc
ttcctgggtccccgtgggcctccgggagaaccaggagagaaaggagtcccaggcaaggag
ggggtccctgggaagcctggagagcctggattcaaaggagaaaggggagatcctgggatc
aaaggtgacaaaggacctcctggtggaaaaggccagcctggggaccctggaatcccaggc
cacaaaggccacacaggcctgatgggtccccaaggactacctggggagaatggaccagtt
ggacccccagggcctccaggccagccgggatttccaggactgaggggggagtctccatcc
atggaaaccctgcgtcggcttattcaagaagagctggggaagcagcttgaaaccagactc
gcctacctcctggcccagatgcccccggcgtacatgaagtcatctcaaggcagacctggg
cccccagggccccctggaaaagatgggcttccaggccgggccggccccatgggggagcca
ggtcgtcctgggcaggggggtctggaaggaccctctggacccataggtcccaaaggtgag
cgaggagccaaaggtgacccaggtgcacctggagttggcctccgaggcgagatgggaccc
cctggaatcccaggtcaacccggggaacctggctatgctaaagatggacttcctgggatc
cctggccctcaaggggagacaggaccagctggacatcctggcctcccaggacctcccggt
cccccaggccaatgtgacccttcccagtgtgcctacttcgccagccttgctgcccggccg
ggtaatgtgaagggtccctaa

KEGG   Homo sapiens (human): 255631
Entry
255631            CDS       T01001                                 

Gene name
COL24A1
Definition
(RefSeq) collagen type XXIV alpha 1 chain
  KO
K19721  collagen type V/XI/XXIV/XXVII, alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04974  Protein digestion and absorption
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    255631 (COL24A1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    255631 (COL24A1)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Heparin
  Extracellular matrix molecules
   255631 (COL24A1)
SSDB
Motif
Pfam: Collagen COLFI Laminin_G_2 Laminin_G_3
Other DBs
NCBI-GeneID: 255631
NCBI-ProteinID: NP_690850
OMIM: 610025
HGNC: 20821
Ensembl: ENSG00000171502
Vega: OTTHUMG00000010629
Pharos: Q17RW2(Tdark)
UniProt: Q17RW2
Position
1p22.3
AA seq 1714 aa
MHLRAHRTRRGKVSPTAKTKSLLHFIVLCVAGVVVHAQEQGIDILHQLGLGGKDVRHSSP
ATAVPSASTPLPQGVHLTESGVIFKNDAYIETPFVKILPVNLGQPFTILTGLQSHRVNNA
FLFSIRNKNRLQLGVQLLPKKLVVHIRGKQPAVFNYSVHDEQWHSFAITIRNQSVSMFVE
CGKKYFSTETIPEVQTFDSNSVFTLGSMNNNSIHFEGIVCQLDIIPSAEASADYCRYVKQ
QCRQADKYQPETSIPCTTLIPTKIPEHSPPPKLFAEKVLSEDTFTEGKSIPNIIKNDSET
VYKRQEHQISRSQLSSLQSGNVSAVDLTNHGIQAKEMITEEDTQTNFSLSVTTHRISEAK
MNTKEKFSSLLNMSDNITQHDDRVTGLSLFKKMPSILPQIKQDTITNLKKAITANLHTNE
LMEMQPILNTSLHRVTNEPSVDNHLDLRKEGEFYPDATYPIENSYETELYDYYYYEDLNT
MLEMEYLRGPKGDTGPPGPPGPAGIPGPSGKRGPRGIPGPHGNPGLPGLPGPKGPKGDPG
FSPGQPVPGEKGDQGLSGLMGPPGMQGDKGLKGHPGLPGLPGEQGIPGFAGNIGSPGYPG
RQGLAGPEGNPGPKGAQGFIGSPGEAGQLGPEGERGIPGIRGKKGFKGRQGFPGDFGDRG
PAGLDGSPGLVGGTGPPGFPGLRGSVGPVGPIGPAGIPGPMGLSGNKGLPGIKGDKGEQG
TAGELGEPGYPGDKGAVGLPGPPGMRGKSGPSGQTGDPGLQGPSGPPGPEGFPGDIGIPG
QNGPEGPKGLLGNRGPPGPPGLKGTQGEEGPIGAFGELGPRGKPGQKGYAGEPGPEGLKG
EVGDQGNIGKIGETGPVGLPGEVGMTGSIGEKGERGSPGPLGPQGEKGVMGYPGPPGVPG
PIGPLGLPGHVGARGPPGSQGPKGQRGSRGPDGLLGEQGIQGAKGEKGDQGKRGPHGLIG
KTGNPGERGFQGKPGLQGLPGSTGDRGLPGEPGLRGLQGDVGPPGEMGMEGPPGTEGESG
LQGEPGAKGDVGTAGSVGGTGEPGLRGEPGAPGEEGLQGKDGLKGVPGGRGLPGEDGEKG
EMGLPGIIGPLGRSGQTGLPGPEGIVGIPGQRGRPGKKGDKGQIGPTGEVGSRGPPGKIG
KSGPKGARGTRGAVGHLGLMGPDGEPGIPGYRGHQGQPGPSGLPGPKGEKGYPGEDSTVL
GPPGPRGEPGPVGDQGERGEPGAEGYKGHVGVPGLRGATGQQGPPGEPGDQGEQGLKGER
GSEGNKGKKGAPGPSGKPGIPGLQGLLGPKGIQGYHGADGISGNPGKIGPPGKQGLPGIR
GGPGRTGLAGAPGPPGVKGSSGLPGSPGIQGPKGEQGLPGQPGIQGKRGHRGAQGDQGPC
GDPGLKGQPGEYGVQGLTGFQGFPGPKGPEGDAGIVGISGPKGPIGHRGNTGPLGREGII
GPTGRTGPRGEKGFRGETGPQGPRGQPGPPGPPGAPGPRKQMDINAAIQALIESNTALQM
ESYQNTEVTLIDHSEEIFKTLNYLSNLLHSIKNPLGTRDNPARICKDLLNCEQKVSDGKY
WIDPNLGCPSDAIEVFCNFSAGGQTCLPPVSVTKLEFGVGKVQMNFLHLLSSEATHIITI
HCLNTPRWTSTQTSGPGLPIGFKGWNGQIFKVNTLLEPKVLSDDCKIQDGSWHKATFLFH
TQEPNQLPVIEVQKLPHLKTERKYYIDSSSVCFL
NT seq 5145 nt   +upstreamnt  +downstreamnt
atgcatttaagagcccacagaacaaggcgtggaaaagtctcccccacggcaaaaacgaaa
tcacttcttcattttattgtactatgtgtggctggggtggttgttcatgcacaagaacaa
ggcatagatattcttcatcaactaggccttggaggcaaagacgtaagacactcatcacca
gcgactgctgtaccatcagcatctacaccgttacctcagggggtccatttaacagaatca
ggagtcatttttaaaaatgatgcttatatcgagacacctttcgtgaaaattttaccagtc
aacttggggcagccgtttacaatattaactgggttacagtcacatcgggtgaacaatgca
tttctcttcagcattagaaataaaaatagactgcaattaggagtacaattactacctaaa
aaattagtagtacacattagaggaaagcagcctgcagttttcaactacagtgttcatgat
gagcaatggcactcatttgccattactattagaaaccaaagtgtctcaatgtttgttgag
tgtggaaagaaatattttagcacagagactattccagaagttcagacctttgattctaat
agtgtgtttactttaggaagtatgaataataattctatccattttgaaggaatagtatgt
cagttagatattattccttctgcagaagcatctgcagactactgcagatatgtgaaacag
cagtgtcgccaagcagacaaataccaacctgaaacaagcattccttgtacaactctcata
ccaacaaagataccggaacactctcccccgcccaaactatttgctgaaaaagtactgtca
gaggatacatttactgaaggcaaaagcattccaaatatcataaaaaatgattctgaaacc
gtgtataaaagacaagaacaccagatatcaagatctcagttatcttctcttcagtcagga
aatgtctctgctgtggatctcacaaaccatgggattcaggccaaagaaatgatcactgag
gaagatactcagacaaatttcagcctgtcagtgaccactcatcgcatcagtgaggcaaaa
atgaataccaaagagaaatttagctctctcctaaacatgtctgacaatatcacacaacat
gatgatagagtaactggtctgtcactgtttaagaagatgccatctattcttccacaaatt
aaacaagatacaattactaatctcaagaaggctatcacagcaaatctacacactaacgaa
ctcatggaaatgcaaccaattttaaacacaagcttgcatagagtgacaaatgagccatct
gtggataatcaccttgatctaaggaaagaaggtgaattttatcctgatgctacttatccc
atcgaaaatagctatgaaactgagctttatgattattattattatgaggatctaaataca
atgcttgaaatggagtatctgagagggccaaaaggagacactggacctcccggtccacct
ggtccagcaggtatcccaggtccgtcagggaagagaggtccacggggcataccagggcca
catggaaatcctggtttacctggattacctggtccaaagggccccaaaggagatccagga
ttttccccaggtcaacctgttcctggagaaaagggtgatcaaggcctttctggattaatg
ggcccccctggtatgcaaggtgataagggtctcaaaggacatcctggactcccaggactt
ccaggtgaacaaggaattccaggatttgctggtaatattggttcacccggttaccctggc
aggcagggtttagctggaccagaaggtaatccaggtcctaaaggtgcacaaggttttatt
ggctctcctggagaagcgggacaactgggacctgaaggagaacggggcattcctgggatc
cgtggaaagaagggttttaaggggagacagggttttccaggtgactttggagacagaggc
cctgctggtcttgatggcagtcctggacttgtaggtggcactggtcctccggggtttcct
gggcttagaggcagtgttggccctgtgggaccaattggacctgctggaattcctggccca
atgggcctttcagggaataaaggactacctggaatcaaaggtgataagggtgaacaaggc
acagcaggagagctaggagaacccgggtatcctggagacaagggtgctgttggtttacca
ggaccaccagggatgagaggaaagtcagggccttcaggccaaacaggtgacccaggactc
caaggaccatctggccctccaggaccagagggttttccaggagatattgggattcctgga
caaaacggccctgaaggaccaaagggactccttggaaatagaggacctcctggacctcct
ggtctcaaaggaactcagggagaagaaggaccaattggagcctttggggaactggggcca
agaggaaaaccaggtcaaaaggggtatgcaggtgaaccaggaccagaaggcttaaaggga
gaagtaggagatcaaggaaatattggaaaaattggtgaaacaggacctgttggcttacct
ggagaagttgggatgactggaagcattggcgaaaagggagaacgtggaagtccaggccca
ctaggtccgcagggagaaaaaggtgttatgggatatccaggtcctcctggggttccagga
cctatcggtccattgggattacctggtcatgtgggggcaagaggaccacctgggagtcaa
ggtcctaaaggacaaagaggatcaagaggaccagatggtctcttaggggaacaaggtata
caaggtgccaagggtgaaaaaggagatcaaggaaaaagagggcctcatggtcttattggt
aagactggaaaccctggagaaagaggatttcaagggaaaccaggtttacagggattgcct
ggaagtacaggtgacagaggacttccaggagagccaggactgcgaggactgcaaggtgat
gttggacctcctggagaaatgggcatggagggacctccaggcactgagggagagtctggt
ctgcaaggtgaaccaggtgcaaagggagatgttggaactgctggcagtgttggaggaact
ggggaaccaggtttacggggtgaaccaggagctcctggagaagaaggtctccagggaaaa
gatgggttaaagggagtaccaggaggaaggggacttcctggagaggatggagaaaaagga
gagatgggcttaccaggaattataggacccttgggtagatcaggccaaacaggccttccg
ggacctgaaggaattgtgggaattccagggcaaagaggtcgtccaggaaaaaagggtgat
aaaggacaaataggacccacaggagaagttggaagcagaggtcctcctggaaaaattggg
aaaagtggtcctaagggtgccagaggaactagaggtgctgtgggacatttaggattgatg
ggacctgatggagaaccaggaattccagggtacaggggccatcagggccaaccaggaccc
tctggattgccaggacctaaaggagaaaagggctacccaggagaagatagcacagtccta
ggaccacctgggcctcgaggtgaaccaggtccagtgggggaccaaggagagagaggagag
cctggagcagagggatataagggccatgtgggtgtaccaggactaagaggtgccactgga
caacaaggacccccaggcgaaccaggtgaccagggtgaacaaggactaaaaggagagaga
ggatctgaaggtaataaggggaaaaaaggagctcctggtccttctgggaaacctgggatt
cctggacttcaaggcctacttgggccaaaaggcatacaaggataccatggagcagatggc
atttcaggaaaccctggaaaaattgggccaccaggaaaacagggacttcctggcatcaga
ggcggcccaggaagaacaggtcttgctggggctccaggtcctccaggagtaaagggttca
tcaggcttgccaggaagcccaggaattcaaggcccaaagggtgaacaagggctacctggt
caacctggaattcaaggtaaaagaggtcaccgaggagcacaaggtgatcaaggaccatgt
ggagaccctggcctgaaagggcagcctggagaatatggtgttcaaggtttgacaggtttc
caaggattcccaggccctaaaggtcctgaaggggatgctggcattgttgggatatcaggt
cctaaaggtcctattggacacagaggaaacactggtccccttggcagagaaggtataata
ggcccaacaggtagaactggacccagaggtgaaaagggctttagaggtgaaactggtcct
caaggaccaagaggtcaaccagggcctccaggtccacctggagcaccaggcccaagaaag
caaatggatatcaatgctgctattcaagccttgattgaatcaaatactgccctacagatg
gagagctaccagaatactgaagtgactttaattgaccacagtgaagagatattcaaaacc
ctgaactaccttagcaatttattgcacagcatcaagaatcctcttggcacacgagataac
ccagcacgaatctgcaaagatttacttaactgtgaacaaaaagtatcagatggaaaatac
tggattgacccaaatcttggctgtccttcagatgccattgaggttttctgcaatttcagt
gctggtggccagacatgcttacctcctgtttctgtaacaaagttggagtttggagttggg
aaagtccagatgaacttccttcatttactgagttcggaagccacccatatcatcaccatt
cactgtctaaacaccccaaggtggacaagcacacaaacaagtggcccaggattgcctatt
ggtttcaagggatggaatggccagatttttaaagtaaacactctacttgaacctaaagtg
ctttcagatgactgcaagattcaagatggcagctggcataaggcaacatttctttttcac
acccaggaacctaatcaacttccagtgattgaagtacaaaaacttcctcatctcaaaact
gaacgaaagtattacattgacagcagttctgtatgctttctgtaa

KEGG   Homo sapiens (human): 256076
Entry
256076            CDS       T01001                                 

Gene name
COL6A5, COL29A1, VWA4
Definition
(RefSeq) collagen type VI alpha 5 chain
  KO
K06238  collagen type VI alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04974  Protein digestion and absorption
hsa05165  Human papillomavirus infection
Disease
H01358  Atopic dermatitis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04151 PI3K-Akt signaling pathway
    256076 (COL6A5)
  09133 Signaling molecules and interaction
   04512 ECM-receptor interaction
    256076 (COL6A5)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04510 Focal adhesion
    256076 (COL6A5)
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    256076 (COL6A5)
 09160 Human Diseases
  09172 Infectious disease: viral
   05165 Human papillomavirus infection
    256076 (COL6A5)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    256076 (COL6A5)
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    256076 (COL6A5)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   256076 (COL6A5)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Heparin
  Extracellular matrix molecules
   256076 (COL6A5)
 Hyaluronan
  Extracellular matrix or blood plasma proteins
   256076 (COL6A5)
SSDB
Motif
Pfam: VWA VWA_2 Collagen VWA_3 VWA_CoxE Copine vWA-TerF-like Integrin_beta
Other DBs
NCBI-GeneID: 256076
NCBI-ProteinID: NP_001265227
OMIM: 611916
HGNC: 26674
Ensembl: ENSG00000172752
Vega: OTTHUMG00000159712
Pharos: A8TX70(Tbio)
UniProt: A8TX70
Position
3q22.1
AA seq 2614 aa
MKILLIIFVLIIWTETLADQSPGPGPVYADVVFLVDSSDHLGPKSFPFVKTFINKMINSL
PIEANKYRVALAQYSDEFHSEFHLSTFKGRSPMLNHLKKNFQFIGGSLQIGKALQEAHRT
YFSAPINGRDRKQFPPILVVLASAESEDEVEEASKALQKDGVKIISVGVQKASEENLKAM
ATSHFHFNLRTIRDLSTFSQNMTQIIKDVTKYKEGAVDADMQVHFPISCQKDSLADLVFL
VDESLGTGGNLRHLQTFLENITSSMDVKENCMRLGLMSYSNSAKTISFLKSSTTQSEFQQ
QIKNLSIQVGKSNTGAAIDQMRRDGFSESYGSRRAQGVPQIAVLVTHRPSDDEVHDAALN
LRLEDVNVFALSIQGANNTQLEEIVSYPPEQTISTLKSYADLETYSTKFLKKLQNEIWSQ
ISTYAEQRNLDKTGCVDTKEADIHFLIDGSSSIQEKQFEQIKRFMLEVTEMFSIGPDKVR
VGVVQYSDDTEVEFYITDYSNDIDLRKAIFNIKQLTGGTYTGKALDYILQIIKNGMKDRM
SKVPCYLIVLTDGMSTDRVVEPAKRLRAEQITVHAVGIGAANKIELQEIAGKEERVSFGQ
NFDALKSIKNEVVREICAEKGCEDMKADIMFLVDSSWSIGNENFRKMKIFMKNLLTKIQI
GADKTQIGVVQFSDKTKEEFQLNRYFTQQEISDAIDRMSLINEGTLTGKALNFVGQYFTH
SKGARLGAKKFLILITDGVAQDDVRDPARILRGKDVTIFSVGVYNANRSQLEEISGDSSL
VFHVENFDHLKALERKLIFRVCALHDCKRITLLDVVFVLDHSGSIKKQYQDHMINLTIHL
VKKADVGRDRVQFGALKYSDQPNILFYLNTYSNRSAIIENLRKRRDTGGNTYTAKALKHA
NALFTEEHGSRIKQNVKQMLIVITDGESHDHDQLNDTALELRNKGITIFAVGVGKANQKE
LEGMAGNKNNTIYVDNFDKLKDVFTLVQERMCTEAPEVCHLQEADVIFLCDGSDRVSNSD
FVTMTTFLSDLIDNFDIQSQRMKIGMAQFGSNYQSIIELKNSLTKTQWKTQIQNVSKSGG
FPRIDFALKKVSNMFNLHAGGRRNAGVPQTLVVITSGDPRYDVADAVKTLKDLGICVLVL
GIGDVYKEHLLPITGNSEKIITFQDFDKLKNVDVKKRIIREICQSCGKTNCFMDIVVGFD
ISTHVQGQPLFQGHPQLESYLPGILEDISSIKGVSCGAGTEAQVSLAFKVNSDQGFPAKF
QIYQKAVFDSLLQVNVSGPTHLNAQFLRSLWDTFKDKSASRGQVLLIFSDGLQSESNIML
ENQSDRLREAGLDALLVVSLNTTAHHEFSSFEFGKRFDYRTHLTIGMRELGKKLSQYLGN
IAERTCCCTFCKCPGIPGPHGTRGLQAMKGSQGLKGSRGHRGEDGNPGVRGDTGPQGDKG
IAGCPGAWGQKGLKGFSGPKGGHGDDGIDGLDGEEGCHGFPGIKGEKGDPGSQGSPGSRG
APGQYGEKGFPGDPGNPGQNNNIKGQKGSKGEQGRQGRSGQKGVQGSPSSRGSRGREGQR
GLRGVSGEPGNPGPTGTLGAEGLQGPQGSQGNPGRKGEKGSQGQKGPQGSPGLMGAKGST
GRPGLLGKKGEPGLPGDLGPVGQTGQRGRQGDSGIPGYGQMGRKGVKGPRGFPGDAGQKG
DIGNPGIPGGPGPKGFRGLALTVGLKGEEGSRGLPGPPGQRGIKGMAGQPVYSQCDLIRF
LREHSPCWKEKCPAYPTELVFALDNSYDVTEESFNKTRDIITSIVNDLNIRENNCPVGAR
VAMVSYNSGTSYLIRWSDYNRKKQLLQQLSQIKYQDTTEPRDVGNAMRFVTRNVFKRTYA
GANVRRVAVFFSNGQTASRSSIITATMEFSALDISPTVFAFDERVFLEAFGFDNTGTFQV
IPVPPNGENQTLERLRRCALCYDKCFPNACIREAFLPEDSYMDVVFLIDNSRNIAKDEFK
AVKALVSSVIDNFNIASDPLISDSGDRIALLSYSPWESSRRKMGTVKTEFDFITYDNQLL
MKNHIQTSFQQLNGEATIGRALLWTTENLFPETPYLRKHKVIFVVSAGENYERKEFVKMM
ALRAKCQGYVIFVISLGSTRKDDMEELASYPLDQHLIQLGRIHKPDLNYIAKFLKPFLYS
VRRGFNQYPPPMLEDACRLINLGGENIQNDGFQFVTELQEDFLGGNGFIGQELNSGRESP
FVKTEDNGSDYLVYLPSQMFEPQKLMINYEKDQKSAEIASLTSGHENYGRKEEPDHTYEP
GDVSLQEYYMDVAFLIDASQRVGSDEFKEVKAFITSVLDYFHIAPTPLTSTLGDRVAVLS
YSPPGYMPNTEECPVYLEFDLVTYNSIHQMKHHLQDSQQLNGDVFIGHALQWTIDNVFVG
TPNLRKNKVIFVISAGETNSLDKDVLRNVSLRAKCQGYSIFVFSFGPKHNDKELEELASH
PLDHHLVQLGRTHKPDWNYIIKFVKPFVHLIRRAINKYPTEDMKATCVNMTSPNPENGGT
ENTVLLLPGIYEIKTENGDLFDEFDSQAQHLLVLGNNHSSGSETATDLMQKLYLLFSTEK
LAMKDKEKAHLEEISALVVDKQQEKEDGEDTRSS
NT seq 7845 nt   +upstreamnt  +downstreamnt
atgaagatcttgctaattatatttgtcctaatcatttggactgaaacattggcagaccag
agcccagggccaggccctgtgtatgcagatgtcgtgtttctggtggacagctccgatcac
ctgggacctaagtcattcccattcgtgaaaacgttcatcaacaaaatgatcaacagtctc
cccatagaggccaacaaataccgtgtagccctggcccagtacagcgacgagtttcacagt
gaattccatctgagcaccttcaaaggcagaagccccatgctgaaccacctcaagaagaac
tttcagttcattggcgggtccctgcagataggaaaggctcttcaggaggctcataggacc
tacttctctgcacccataaatgggagagacaggaaacagtttcccccaattttggtggtc
ctggcttcggctgagtctgaggatgaagtggaagaggcttcgaaagccctgcagaaagac
ggggtgaaaattatctccgtgggggtgcagaaagcttctgaggaaaatctgaaggccatg
gccacatcccatttccatttcaaccttcggacaatcagagacctcagcacattttcccaa
aacatgacacagatcatcaaggatgtaaccaagtataaggagggagccgtcgatgctgat
atgcaagttcacttccccatatcctgtcagaaagattcactcgctgacctcgtgttcctg
gtggatgagtcacttgggaccggaggaaatttaaggcatcttcagaccttccttgagaac
attaccagctccatggatgtgaaggaaaattgcatgcgacttggactgatgagttacagc
aatagtgccaagactatttcttttcttaaatcaagcacaacccaatctgaatttcagcag
caaatcaagaatctttctatccaagttgggaaatccaatacaggggctgccattgatcag
atgagaagagacggcttctcagagtcatatggcagcagaagagcacaaggagtgcctcag
attgcagttctggtcacccacagaccatcagatgatgaggtgcatgatgctgcgctgaac
cttcgactggaggatgtaaacgtgtttgccttgagcatccaaggggctaacaatacccag
ttagaagaaatagtgtcttatcctccagaacagacaatttccacgctgaagtcctatgca
gacttagaaacttacagtacaaagttcctgaaaaagctccagaatgaaatatggtcccaa
atttctacttatgctgaacaaaggaatcttgataaaactggctgtgtggatacaaaagag
gctgatatccacttcctcattgatggctcaagcagcatccaggagaaacagtttgagcaa
atcaagagatttatgttggaagtgacagaaatgtttagcattggcccagacaaagtccga
gttggagttgtgcagtattcagatgacacagaagtggaattttatatcactgactattct
aatgatattgacttaagaaaggctatttttaacattaagcaactaactggtggaacttat
actgggaaagctctggattacatactgcaaataataaaaaatggaatgaaggatagaatg
agcaaggttccctgttacctcattgtgttgactgatgggatgtccacagacagagtcgtg
gaacctgctaagagactaagggctgagcaaatcactgttcatgcagttggcattggggca
gctaataaaatagaactgcaagaaattgctgggaaagaagaaagggttagctttgggcag
aactttgatgctttgaaaagcataaaaaatgaagtcgttcgtgaaatctgcgctgaaaaa
ggatgtgaagacatgaaggccgacatcatgtttctggtggacagttcttggagtatagga
aatgaaaattttaggaaaatgaaaatcttcatgaaaaacctgttaactaaaattcaaatt
ggtgcagacaaaacccagattggtgttgttcagttcagtgataaaactaaggaagagttc
cagcttaatagatattttacacagcaagaaatttctgatgcaatagatagaatgtctctc
atcaatgaaggcactttaactggaaaggcactaaattttgtaggtcaatacttcacccac
tccaagggggcccgtttgggggccaaaaaatttctcatcctcatcacagatggagtagcg
caggatgatgtgagagatcctgctagaattcttcggggcaaagatgtgaccatcttctct
gtaggagtatacaatgccaatagatctcagctagaagagatcagtggggatagcagccta
gtttttcatgttgagaacttcgatcatctaaaggcactagaaaggaaacttatctttcgt
gtgtgtgctctccatgattgtaaaaggattacactactagacgttgtgtttgtgctggat
cattcaggtagcataaaaaaacaatatcaagatcacatgattaacctaactatccatttg
gtgaagaaagcagatgttggcagggaccgagttcagtttggagccctcaaatactctgac
caacctaacatccttttctaccttaatacatactcgaacagatcagcaataattgagaat
ctgcggaagcgcagggacactggagggaacacctacactgccaaggctctcaagcacgca
aatgccctgtttacagaggaacatggcagccgcatcaagcaaaatgtgaagcagatgctg
attgtcatcaccgatggggaatcccatgaccatgatcagctcaatgacacagcattggaa
ctgagaaacaaaggcatcaccatctttgcagtgggtgtaggaaaggccaaccaaaaggaa
cttgagggtatggcagggaataaaaacaatactatctatgtagataattttgacaaactg
aaagatgttttcacacttgttcaagaacgtatgtgtactgaagcaccagaggtctgtcat
cttcaggaagctgacgtgattttcctttgcgatggctctgacagggtatctaattcagat
tttgtaaccatgacaactttcttgtcagacttaatcgataattttgacattcagtctcaa
agaatgaaaattggtatggctcaatttggaagcaactaccagagtattattgagttgaaa
aactctctgactaaaacccagtggaagactcaaattcagaatgtctccaagagcggtgga
tttccaagaattgactttgcccttaaaaaagtgagcaatatgtttaatctacatgctggt
gggagaagaaatgctggtgtcccccaaactttggttgttatcacatctggagatcctcgc
tatgatgtggcagatgcagtaaaaaccctgaaggaccttggaatttgtgtcctggttttg
ggcataggagatgtttataaggaacatctcctgccaataacaggcaattctgaaaaaata
atcacttttcaagactttgataaattaaagaatgtggatgtgaaaaaaagaatcatccgt
gaaatctgccagagctgtgggaaaaccaattgctttatggacatagtggttgggtttgac
atctccactcatgtgcaggggcagcctttgttccagggccacccccagctggaatcctac
ctcccaggcatcttagaagacatcagctctatcaagggggtgagctgtggggctggcaca
gaggcacaggtgagcttggcgtttaaggtgaacagtgaccaaggattccctgccaagttc
caaatctatcagaaagcagtgtttgacagcttgctgcaagtcaacgtcagtgggccaact
catctgaacgcacagttcttgcggtctctttgggacacatttaaggataaatctgcatcc
cggggccaggtgctgcttattttttcagacggtctccagagtgaaagcaacataatgctt
gaaaatcaatcagacaggctcagagaagcaggacttgatgctctgctggtagtgtccctt
aacacaactgctcatcatgagttttctagctttgaatttggaaaaagattcgattacagg
actcatctgactattggaatgagagaactgggcaaaaaactatcacagtacctgggaaat
attgcagagaggacttgctgctgtacattctgcaaatgtccaggaattccaggacctcat
gggacccgaggactacaagccatgaagggttctcaaggtctgaaaggcagcagaggacac
aggggagaggatggaaaccctggagtacgaggagacacaggaccccaaggagacaaaggg
attgcaggatgtccaggggcgtggggtcagaagggactcaaaggattttctggacctaag
ggaggtcatggagacgatgggattgatggacttgatggggaagagggctgtcatggattt
cctggaataaaaggagaaaaaggtgatccaggatctcagggcagcccaggttccagaggt
gcccctgggcagtatggagagaagggcttcccaggggatccgggtaatccaggacaaaac
aataacatcaaaggacaaaagggctccaaaggagaacaaggaagacaaggtagaagtgga
cagaaaggggtgcaaggcagtcctagttccagaggcagcaggggaagagaaggtcaaagg
ggactccgaggtgtctcaggagaaccaggaaatcctggacctacaggcacattgggagct
gaaggattacaaggcccacaggggtcacagggaaatcctggcagaaaaggagaaaaagga
agccaggggcagaaaggacctcagggttctcctgggctaatgggagctaaagggagcact
ggaagacctggacttttggggaaaaaaggagagcctggacttcctggagatctagggcca
gtggggcaaactgggcagcgaggaagacagggagattctggcatcccaggctacggtcag
atgggacgaaaaggagtaaagggcccaagaggattccctggagatgcggggcagaagggt
gatattggtaatcctggaattcctgggggacctggacccaaaggatttaggggactagca
ctcactgtaggcttgaaaggtgaagagggatctcgaggactcccaggccctcctggacag
agaggcattaaaggcatggcagggcagcctgtatattctcaatgtgatctgatccggttt
ttgcgggaacatagtccttgctggaaagaaaaatgtccagcatatccaacagagctagta
tttgctctggacaattcctacgatgtcacagaagagagctttaataaaacacgggacatc
atcacttccattgtcaatgaccttaacatcagggaaaataactgtcctgtgggagcaaga
gttgccatggtttcctataactcaggcaccagctatctcatccgctggtctgactacaat
aggaagaagcagctcctccagcagctttcccaaataaaatatcaagacaccacagagccc
cgagatgttggtaatgcaatgaggtttgtgacccgcaacgtgttcaagcggacgtatgca
ggagccaacgtgaggagagttgctgtgttttttagcaatggtcaaacagccagtaggtca
tccatcatcacggccaccatggagtttagtgccctggatatcagtccaacagtctttgct
tttgatgagagagttttccttgaagcttttgggtttgacaacactggaacatttcaggtg
attccagttcctccaaatggggaaaatcaaacattagaaagacttcggcgctgtgcactt
tgctatgataaatgttttccaaatgcttgcattcgagaggctttcttacctgaagattca
tacatggatgtagtcttcctcatagacaattctcggaatatagcaaaggatgagtttaag
gctgtgaaagccttggtgagctcagtgattgacaacttcaacattgcttcagacccttta
atctcagactctggtgataggattgctttgttgagctattctccttgggaaagttccagg
agaaagatgggtacagtaaaaacagagtttgatttcatcacttatgacaaccaactccta
atgaagaatcacatccagacttccttccaacagctaaatggagaagcaacaattggtcgt
gccctactgtggaccactgaaaatctttttccagaaacaccctatctaagaaaacacaag
gtcatctttgtggtctcagctggagaaaattatgagagaaaagaatttgtaaaaatgatg
gctttgagggctaagtgtcaaggctacgtcatatttgtgatttctctgggctctacacgt
aaggatgacatggaggagttagccagctacccacttgatcaacacctgatacagcttggg
agaatacataaaccagatctgaattatattgcgaagttcttaaagccatttttatactcg
gtcaggcggggattcaatcagtacccaccaccgatgcttgaggatgcctgtagactcatc
aatttaggaggagagaatattcaaaatgatggtttccaatttgttactgagctacaagag
gattttttgggaggtaatggcttcattggccaagaattaaattctgggagagaatcacct
tttgtaaagacggaagacaatggaagtgactatttggtttaccttccaagccaaatgttt
gagccacaaaaattaatgatcaattatgaaaaagatcaaaaatctgcagaaattgcaagt
ctcacttctggacatgaaaattatggcagaaaagaagaaccagatcatacttatgaacct
ggagatgtctctcttcaagaatattacatggatgtggctttcctcatagatgcttcccaa
agagtaggaagtgatgagtttaaggaagtaaaagcttttataacctcagtgcttgattac
tttcacattgcccccactccactgacctccaccttaggagacagggttgctgtcctgagc
tactctcctccaggctatatgcctaacactgaagaatgccctgtctacctggaatttgat
ttggttacttataacagtatacaccaaatgaaacatcatctccaagactctcaacagctc
aatggagatgtttttattggccatgccttgcagtggacaattgacaatgtctttgtagga
acccccaatctgaggaaaaacaaagttatctttgtaatatctgctggcgaaaccaactct
ttagacaaagacgtcttaaggaatgtgtctctgagagccaagtgtcaaggctactccata
tttgtgttttcctttggccctaaacacaatgacaaagaattagaagaattagccagccac
cctctggatcatcacttggtccaacttggccgaacccacaagccagattggaactatatc
atcaagtttgtcaagccatttgtccatttaatcagacgtgccatcaacaaatatcccacc
gaagatatgaaagccacatgtgttaacatgacctctcccaacccagagaacggtggcaca
gaaaacactgtattacttcttcctgggatatatgaaataaagacagaaaatggtgatctg
tttgatgaatttgattcccaggcacaacatctccttgtattagggaacaatcatagtagt
ggttctgagacagctactgatttgatgcagaagttatatctgctcttttcaactgagaaa
ctggcaatgaaagacaaggaaaaagcacatttagaagaaatttcagctctagtggttgat
aaacagcaagaaaaagaagatggtgaagatacaaggtcatcatag

KEGG   Homo sapiens (human): 50509
Entry
50509             CDS       T01001                                 

Gene name
COL5A3
Definition
(RefSeq) collagen type V alpha 3 chain
  KO
K19721  collagen type V/XI/XXIV/XXVII, alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04974  Protein digestion and absorption
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    50509 (COL5A3)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    50509 (COL5A3)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Heparin
  Extracellular matrix molecules
   50509 (COL5A3)
SSDB
Motif
Pfam: Collagen COLFI Laminin_G_2 Laminin_G_3
Other DBs
NCBI-GeneID: 50509
NCBI-ProteinID: NP_056534
OMIM: 120216
HGNC: 14864
Ensembl: ENSG00000080573
Vega: OTTHUMG00000150019
Pharos: P25940(Tdark)
UniProt: P25940
Position
19p13.2
AA seq 1745 aa
MGNRRDLGQPRAGLCLLLAALQLLPGTQADPVDVLKALGVQGGQAGVPEGPGFCPQRTPE
GDRAFRIGQASTLGIPTWELFPEGHFPENFSLLITLRGQPANQSVLLSIYDERGARQLGL
ALGPALGLLGDPFRPLPQQVNLTDGRWHRVAVSIDGEMVTLVADCEAQPPVLGHGPRFIS
IAGLTVLGTQDLGEKTFEGDIQELLISPDPQAAFQACERYLPDCDNLAPAATVAPQGEPE
TPRPRRKGKGKGRKKGRGRKGKGRKKNKEIWTSSPPPDSAENQTSTDIPKTETPAPNLPP
TPTPLVVTSTVTTGLNATILERSLDPDSGTELGTLETKAAREDEEGDDSTMGPDFRAAEY
PSRTQFQIFPGAGEKGAKGEPAVIEKGQQFEGPPGAPGPQGVVGPSGPPGPPGFPGDPGP
PGPAGLPGIPGIDGIRGPPGTVIMMPFQFAGGSFKGPPVSFQQAQAQAVLQQTQLSMKGP
PGPVGLTGRPGPVGLPGHPGLKGEEGAEGPQGPRGLQGPHGPPGRVGKMGRPGADGARGL
PGDTGPKGDRGFDGLPGLPGEKGQRGDFGHVGQPGPPGEDGERGAEGPPGPTGQAGEPGP
RGLLGPRGSPGPTGRPGVTGIDGAPGAKGNVGPPGEPGPPGQQGNHGSQGLPGPQGLIGT
PGEKGPPGNPGIPGLPGSDGPLGHPGHEGPTGEKGAQGPPGSAGPPGYPGPRGVKGTSGN
RGLQGEKGEKGEDGFPGFKGDVGLKGDQGKPGAPGPRGEDGPEGPKGQAGQAGEEGPPGS
AGEKGKLGVPGLPGYPGRPGPKGSIGFPGPLGPIGEKGKSGKTGQPGLEGERGPPGSRGE
RGQPGATGQPGPKGDVGQDGAPGIPGEKGLPGLQGPPGFPGPKGPPGHQGKDGRPGHPGQ
RGELGFQGQTGPPGPAGVLGPQGKTGEVGPLGERGPPGPPGPPGEQGLPGLEGREGAKGE
LGPPGPLGKEGPAGLRGFPGPKGGPGDPGPTGLKGDKGPPGPVGANGSPGERGPLGPAGG
IGLPGQSGSEGPVGPAGKKGSRGERGPPGPTGKDGIPGPLGPLGPPGAAGPSGEEGDKGD
VGAPGHKGSKGDKGDAGPPGQPGIRGPAGHPGPPGADGAQGRRGPPGLFGQKGDDGVRGF
VGVIGPPGLQGLPGPPGEKGEVGDVGSMGPHGAPGPRGPQGPTGSEGTPGLPGGVGQPGA
VGEKGERGDAGDPGPPGAPGIPGPKGDIGEKGDSGPSGAAGPPGKKGPPGEDGAKGSVGP
TGLPGDLGPPGDPGVSGIDGSPGEKGDPGDVGGPGPPGASGEPGAPGPPGKRGPSGHMGR
EGREGEKGAKGEPGPDGPPGRTGPMGARGPPGRVGPEGLRGIPGPVGEPGLLGAPGQMGP
PGPLGPSGLPGLKGDTGPKGEKGHIGLIGLIGPPGEAGEKGDQGLPGVQGPPGPKGDPGP
PGPIGSLGHPGPPGVAGPLGQKGSKGSPGSMGPRGDTGPAGPPGPPGAPAELHGLRRRRR
FVPVPLPVVEGGLEEVLASLTSLSLELEQLRRPPGTAERPGLVCHELHRNHPHLPDGEYW
IDPNQGCARDSFRVFCNFTAGGETCLYPDKKFEIVKLASWSKEKPGGWYSTFRRGKKFSY
VDADGSPVNVVQLNFLKLLSATARQNFTYSCQNAAAWLDEATGDYSHSARFLGTNGEELS
FNQTTAATVSVPQDGCRLRKGQTKTLFEFSSSRAGFLPLWDVAATDFGQTNQKFGFELGP
VCFSS
NT seq 5238 nt   +upstreamnt  +downstreamnt
atggggaaccgccgggacctgggccagccgcgggccggtctctgcctgctcctggccgcg
ctgcagcttctgccggggacgcaggccgatcctgtggatgtcctgaaggccctgggtgtg
cagggaggccaggctggggtccccgaggggcctggcttctgtccccagaggactccagag
ggtgaccgggcattcagaattggccaggccagcacgctcggcatccccacgtgggaactc
tttccagaaggccactttcctgagaacttctccttgctgatcaccttgcggggacagcca
gccaatcagtctgtcctgctgtccatttatgatgaaaggggtgcccggcagttgggcctg
gcactggggccagcgctgggtctcctaggtgaccccttccgccccctcccccagcaggtc
aacctcacagatggcaggtggcaccgtgtggccgtcagcatagatggtgagatggtgacc
ctggtagctgactgtgaagctcagccccctgttttgggccatggcccccgcttcatcagc
atagctggactcactgtgctggggacccaggaccttggggaaaagactttcgagggagac
attcaggagctgctgataagcccagatcctcaggctgccttccaggcttgtgagcggtac
ctccccgactgtgacaacctggcaccggcagccacagtggctccccagggtgaaccagaa
acccctcgtcctcggcggaaggggaagggaaaagggaggaagaaagggcgaggtcgcaag
gggaagggcaggaaaaagaacaaggaaatttggacctcaagtccacctcctgactccgca
gagaaccagacctccactgacatccccaagacagagactccagctccaaatctgcctccg
acccccacgcctttggtcgtcacctccactgtgactactggactcaatgccacgatccta
gagaggagcttggaccctgacagtggaaccgagctggggaccctggagaccaaggcagcc
agggaggatgaagaaggagatgattccaccatgggccctgacttccgggcagcagaatat
ccatctcggactcagttccagatctttcctggtgctggagagaaaggagcaaaaggagag
cccgcagtgattgaaaaggggcagcagtttgagggacctccaggagccccaggaccccaa
ggggtggttggcccctcaggccctcccggccccccaggattccctggcgaccctggtcca
ccgggccctgctggcctcccaggaatccccggcattgatgggatccgaggcccaccgggc
actgtgatcatgatgccgttccagtttgcaggcggctcctttaaaggccccccagtctca
ttccagcaggcccaggctcaggcagttctgcagcagactcagctctctatgaaaggcccc
cctggtccagtggggctcactgggcgcccaggccctgtgggtctccccgggcatccaggt
ctgaaaggagaggagggagcagaagggccacagggtccccgaggcctgcagggacctcat
ggaccccctggccgagtgggcaagatgggccgccctggagcagatggagctcggggcctc
ccaggggacactggacctaagggtgatcgtggcttcgatggcctccctgggctgcctggt
gagaagggccaaaggggtgactttggccatgtggggcaacccggtcccccaggagaggat
ggtgagaggggagcagagggacctccagggcccactggccaggctggggagccgggtcca
cgaggactgcttggccccagaggctctcctggccccacgggtcgcccgggtgtgactgga
attgatggtgctcctggtgccaaaggcaatgtgggtcctccaggagaaccaggccctccg
ggacagcagggaaaccatgggtcccagggactccccggtccccagggactcattggcact
cctggggagaagggtccccctggaaacccaggaattccaggcctcccaggatccgatggc
cctctgggtcacccaggacatgagggccccacgggagagaaaggggctcagggtccacca
gggtcggcaggccctccgggctatcctggacctcggggagtgaagggcacttcaggcaac
cggggcctccagggggagaaaggcgagaagggagaggacggcttcccaggcttcaagggc
gatgtggggctcaaaggtgatcaggggaaacccggagctccaggtccccggggagaggat
ggtcctgaggggccgaaggggcaggcggggcaggctggcgaggaggggcccccaggctca
gctggggagaagggcaagcttggggtgccaggcctcccaggttatccaggacgccctgga
cctaagggatctattggatttcccggtcccctgggacccataggagagaaagggaagtcg
ggaaagacagggcagccaggcctggaaggagagcggggaccaccaggttcccgtggagag
agggggcaaccgggtgccacagggcaaccaggccccaagggcgatgtgggccaggatgga
gcccctgggatccctggagaaaagggcctccctggtctgcaaggccctccaggattccct
gggccaaagggcccccctggtcaccaaggtaaagatgggcgaccagggcaccctggacag
agaggagaactgggcttccaaggtcagacaggcccgcctggaccagctggtgtcttaggc
cctcagggaaagacaggagaagtgggacctctaggtgaaagggggcctccaggcccccct
ggacctcctggtgaacaaggtcttcctggcctggaaggcagagagggggccaagggggaa
ctgggaccaccaggaccccttgggaaagaagggccagctggactcaggggctttcccggc
cccaaagggggccctggggacccgggacctactggcttaaagggtgataagggcccccca
gggcccgtgggggccaatggctcccctggtgagcgcggtcctttgggcccagcaggaggc
attggacttcctggccaaagtggcagcgaaggccccgttggccctgcaggcaagaagggg
tcccggggagaacgtggcccccctggccccactggcaaagatgggatcccagggcccctg
gggcctctgggaccccctggagctgctgggccttctggcgaggaaggggacaagggggat
gtgggtgcccccggacacaaggggagtaaaggcgataaaggagacgcgggcccacctgga
caaccagggatacggggtcctgcaggacacccaggtcccccgggagcagacggggctcag
gggcgccggggacccccaggcctctttgggcagaaaggagatgacggagtcagaggcttt
gtgggggtgattggccctcctggactgcaggggctgccaggccctccgggagagaaaggg
gaggtcggagacgtcgggtccatgggtccccatggagctccaggtcctcggggtccccaa
ggccccactggatcagagggcactccagggctgcctggaggagttggtcagccaggcgcc
gtgggtgagaagggtgagcgaggggacgctggagacccagggcctccaggagccccaggc
atcccggggcccaagggagacattggtgaaaagggggactcaggcccatctggagctgct
ggacccccaggcaagaaaggtccccctggagaggatggagccaaagggagcgtgggcccc
acggggctgcccggagatctagggcccccaggagaccctggagtttcaggcatagatggt
tccccaggggagaagggagaccctggtgatgttgggggaccgggtccgcctggagcttct
ggggagcccggcgcccccgggccccccggcaagaggggtccttcaggccacatgggtcga
gaaggcagagaaggggagaaaggtgccaagggggagccaggtcctgatgggcccccaggg
aggacgggtccaatgggggctagagggccccctggacgtgtggggcctgagggtcttcga
gggatccctggccctgtgggtgaaccaggcctcctgggagcccctggacagatgggccct
cctggccccctggggccctctggcctcccagggctgaagggagacactggccccaagggg
gaaaagggccacattggattgatcggtctcattggccccccgggagaagctggtgagaaa
ggagatcaggggttgccaggcgtgcagggaccccctggtcccaagggagaccctggtccc
cctggtcccattggctctctgggccaccctgggcccccaggtgtggcgggccctctagga
cagaaaggctcaaaagggtctccggggtccatgggcccccgtggagacactggacctgca
ggcccaccaggccccccgggtgcccctgccgagctgcatgggctgcgcaggcgccggcgc
ttcgtcccagtcccgcttccagtcgtggagggcggcctggaggaggtgctggcctcgctc
acatcgctgagcttggagctggagcagctgcggcgtcctcccggcactgcggagcgcccg
ggcctcgtgtgccacgagctgcaccgcaaccacccgcacctgcctgatggggaatactgg
attgaccccaaccagggctgcgcgcgggactcgttcagggttttttgcaacttcacggcg
ggaggagagacctgcctctatcccgacaagaagtttgagatcgtgaaattggcctcctgg
tccaaggaaaagcctggaggctggtatagcacattccgtcgagggaagaagttctcctac
gtggacgccgacgggtccccagtgaatgtcgtgcagctgaacttcctgaaactgctgagt
gccacagctcgccagaacttcacctactcctgccagaatgcagctgcctggctggacgaa
gccacgggtgactacagccactccgcccgcttccttggcaccaatggagaggagctgtct
ttcaaccagacgacagcagccactgtcagcgtcccccaggatggctgccggctccggaaa
ggacagacgaagacccttttcgaattcagctcttctcgagcgggatttctgcccctgtgg
gatgtggcggccactgactttggccagacgaaccaaaagtttgggtttgaactgggcccc
gtctgcttcagcagctga

KEGG   Homo sapiens (human): 7373
Entry
7373              CDS       T01001                                 

Gene name
COL14A1, UND
Definition
(RefSeq) collagen type XIV alpha 1 chain
  KO
K08133  collagen type XIV alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04974  Protein digestion and absorption
Disease
H01404  Punctate palmoplantar keratoderma
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    7373 (COL14A1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   00535 Proteoglycans [BR:hsa00535]
    7373 (COL14A1)
Proteoglycans [BR:hsa00535]
 Extracellular matrix (ECM) proteoglycans
  Collagen family
   7373 (COL14A1)
SSDB
Motif
Pfam: VWA fn3 Collagen VWA_2 Pur_ac_phosph_N VWA_3 Arylsulfotran_N CBM_4_9
Other DBs
NCBI-GeneID: 7373
NCBI-ProteinID: NP_066933
OMIM: 120324
HGNC: 2191
Ensembl: ENSG00000187955
Vega: OTTHUMG00000149877
Pharos: Q05707(Tbio)
UniProt: Q05707
Position
8q24.12
AA seq 1796 aa
MKIFQRKMRYWLLPPFLAIVYFCTIVQGQVAPPTRLRYNVISHDSIQISWKAPRGKFGGY
KLLVTPTSGGKTNQLNLQNTATKAIIQGLMPDQNYTVQIIAYNKDKESKPAQGQFRIKDL
EKRKDPKPRVKVVDRGNGSRPSSPEEVKFVCQTPAIADIVILVDGSWSIGRFNFRLVRHF
LENLVTAFDVGSEKTRIGLAQYSGDPRIEWHLNAFSTKDEVIEAVRNLPYKGGNTLTGLA
LNYIFENSFKPEAGSRTGVSKIGILITDGKSQDDIIPPSRNLRESGVELFAIGVKNADVN
ELQEIASEPDSTHVYNVAEFDLMHTVVESLTRTLCSRVEEQDREIKASAHAITGPPTELI
TSEVTARSFMVNWTHAPGNVEKYRVVYYPTRGGKPDEVVVDGTVSSTVLKNLMSLTEYQI
AVFAIYAHTASEGLRGTETTLALPMASDLLLYDVTENSMRVKWDAVPGASGYLILYAPLT
EGLAGDEKEMKIGETHTDIELSGLLPNTEYTVTVYAMFGEEASDPVTGQETTLALSPPRN
LRISNVGSNSARLTWDPTSRQINGYRIVYNNADGTEINEVEVDPITTFPLKGLTPLTEYT
IAIFSIYDEGQSEPLTGVFTTEEVPAQQYLEIDEVTTDSFRVTWHPLSADEGLHKLMWIP
VYGGKTEEVVLKEEQDSHVIEGLEPGTEYEVSLLAVLDDGSESEVVTAVGTTLDSFWTEP
ATTIVPTTSVTSVFQTGIRNLVVGDETTSSLRVKWDISDSDVQQFRVTYMTAQGDPEEEV
IGTVMVPGSQNNLLLKPLLPDTEYKVTVTPIYTDGEGVSVSAPGKTLPSSGPQNLRVSEE
WYNRLRITWDPPSSPVKGYRIVYKPVSVPGPTLETFVGADINTILITNLLSGMDYNVKIF
ASQASGFSDALTGMVKTLFLGVTNLQAKHVEMTSLCAHWQVHRHATAYRVVIESLQDRQK
QESTVGGGTTRHCFYGLQPDSEYKISVYTKLQEIEGPSVSIMEKTQSLPTRPPTFPPTIP
PAKEVCKAAKADLVFMVDGSWSIGDENFNKIISFLYSTVGALNKIGTDGTQVAMVQFTDD
PRTEFKLNAYKTKETLLDAIKHISYKGGNTKTGKAIKYVRDTLFTAESGTRRGIPKVIVV
ITDGRSQDDVNKISREMQLDGYSIFAIGVADADYSELVSIGSKPSARHVFFVDDFDAFKK
IEDELITFVCETASATCPVVHKDGIDLAGFKMMEMFGLVEKDFSSVEGVSMEPGTFNVFP
CYQLHKDALVSQPTRYLHPEGLPSDYTISFLFRILPDTPQEPFALWEILNKNSDPLVGVI
LDNGGKTLTYFNYDQSGDFQTVTFEGPEIRKIFYGSFHKLHIVVSETLVKVVIDCKQVGE
KAMNASANITSDGVEVLGKMVRSRGPGGNSAPFQLQMFDIVCSTSWANTDKCCELPGLRD
DESCPDLPHSCSCSETNEVALGPAGPPGGPGLRGPKGQQGEPGPKGPDGPRGEIGLPGPQ
GPPGPQGPSGLSIQGMPGMPGEKGEKGDTGLPGPQGIPGGVGSPGRDGSPGQRGLPGKDG
SSGPPGPPGPIGIPGTPGVPGITGSMGPQGALGPPGVPGAKGERGERGDLQSQAMVRSVA
RQVCEQLIQSHMARYTAILNQIPSHSSSIRTVQGPPGEPGRPGSPGAPGEQGPPGTPGFP
GNAGVPGTPGERGLTGIKGEKGNPGVGTQGPRGPPGPAGPSGESRPGSPGPPGSPGPRGP
PGHLGVPGPQGPSGQPGYCDPSSCSAYGVRAPHPDQPEFTPVQDELEAMELWGPGV
NT seq 5391 nt   +upstreamnt  +downstreamnt
atgaagattttccagcgcaagatgcggtactggttgcttccaccttttttggcaattgtt
tatttctgcaccattgtccaaggtcaagtggctccacccacaaggttaagatataatgta
atatctcatgacagtatacagatttcatggaaggctccaagagggaaatttggtggttac
aaacttcttgtgactccaacttcaggtggaaaaactaaccagctgaatctgcagaacact
gcaactaaagcaattattcaaggccttatgccagaccagaattacacagttcaaattatt
gcatacaataaagataaagaaagcaagccagctcaaggccaattcagaattaaagattta
gaaaaaagaaaggatccaaagcccagagtcaaagttgtggacagaggaaatgggagtaga
ccatcttcaccagaagaagtgaaatttgtctgtcaaactccagcaattgctgacattgta
atcctggtcgatggttcatggagtattggaagattcaacttcagactggttcggcatttc
ttggaaaacctggttacagcattcgatgtgggctcagagaagacacgaattggtcttgca
cagtatagtggtgaccccagaatagaatggcacttgaatgcatttagcacaaaagatgaa
gtgattgaagctgtccgaaacctcccatataaaggaggaaatacactaacaggtcttgct
ttgaactacatttttgaaaatagcttcaaaccagaagcaggatcaaggactggagtatcc
aaaattggcattttaatcacagatggaaaatcccaagatgacattattccaccatctaga
aatcttcgtgagtctggtgtagaactgtttgccataggggtgaaaaacgcggatgtgaat
gagctgcaggagatcgcctctgaaccagacagcactcatgtgtacaatgttgccgaattc
gatctgatgcacacagttgtggagagtctgaccaggactctctgctctagagtggaagaa
caggacagagaaattaaagcctcagcccatgccatcactgggccgcctacggagttgatt
acttctgaagtcactgccagaagctttatggttaactggactcatgccccaggaaatgtg
gaaaaatacagagttgtgtattatcctaccaggggtggaaaaccagacgaggtggtggta
gatggaactgtatcttccacagtgttgaaaaacttgatgtctttaactgaatatcagata
gcagtctttgcaatctatgcccacactgctagtgaaggcctacggggaactgaaactaca
cttgctttaccgatggcttctgaccttctactgtacgacgtgactgagaacagcatgcga
gtcaaatgggatgcagtgcctggggcctcaggttacctgatcctttatgctcctctaaca
gagggcctggctggggatgaaaaagagatgaaaattggagagacccacacagatattgaa
ttgagtgggttgttgcccaatacagaatacacagtcacagtttatgccatgtttggagaa
gaggccagtgatcctgttacgggacaagaaacaacattggctttaagtccaccaagaaac
ctgagaatctccaatgttggctctaacagtgctcgattaacctgggacccaacttcaaga
cagatcaatggttatcgaattgtatataacaatgcagatgggactgaaatcaatgaggtt
gaagtcgatcctattactaccttccctctgaagggcttgacacctctcacagagtatact
attgctattttctccatctatgatgaaggacagtcagagcctctgactggagtttttacc
accgaggaagttccagcccagcaatacttagaaattgatgaggtgacgacagacagtttt
agggtgacctggcatcccctctcagctgatgaagggctacacaaattgatgtggattcca
gtctatggggggaagactgaggaggttgtcctgaaagaagagcaggactcacatgttatt
gaaggcctggagcccggtacggagtatgaagtttcactattggccgtacttgatgatgga
agcgagagtgaggtggtgactgctgtcgggaccacacttgacagtttttggacagaacca
gctacaaccatagtgcctaccacatctgtgacttcagttttccagacgggaatcagaaac
ctagttgtaggtgatgaaactacttctagcctgcgggtaaaatgggacatttctgacagc
gatgtgcagcagtttagggtgacctacatgacagctcaaggggaccctgaggaagaagtc
ataggaacggttatggtgcctggaagccagaacaacctccttctgaagcctctgcttcct
gatactgaatacaaagtcacagtgactcccatctacacggatggcgaaggcgtcagcgtc
tccgctcctggaaaaaccttaccatcctcggggccccagaacttgcgggtgtccgaggaa
tggtataaccggttgcgcattacgtgggaccccccatcttccccggtgaaaggctataga
attgtctacaaacctgtcagtgttcctggtccaacactggaaacgtttgtgggagctgac
attaacaccatccttatcacaaacctcctcagcggaatggactacaatgtgaagatattt
gcctcccaggcctcaggcttcagcgacgccctgacaggcatggtgaaaacattgttcttg
ggtgttaccaatctccaagccaaacatgttgaaatgaccagcttgtgtgcccactggcag
gtacatcgccatgccacagcctatagggttgttatagaatccctccaggataggcaaaag
caagaatccactgtgggtggagggacaaccaggcattgcttctatggacttcagcctgat
tctgaatataaaatcagtgtttatacaaagctccaggagattgaaggacctagtgtgagc
ataatggaaaaaacacaatcacttcctacacgaccaccaacttttcctccaaccattcca
ccagcaaaagaagtatgtaaggcggccaaggctgacctggtatttatggtggatggatcc
tggagcattggagatgaaaatttcaataagatcatcagctttctatacagcactgttgga
gccctgaacaagattggcacagatggaacccaagttgcaatggttcagttcactgatgat
cccagaacagaatttaaactaaatgcttacaaaaccaaagagactcttcttgatgcaatt
aaacacatttcatacaaaggaggaaatacaaaaacaggaaaagcaattaagtatgttcga
gataccttgttcactgcagagtcaggtacaagaaggggcatcccaaaggttatcgtggtt
ataactgatggaagatcacaagatgatgtgaacaaaatctccagggagatgcaattagat
ggctatagcatttttgcaattggtgtggccgatgcagattactcggagttggttagcatt
ggcagtaagcccagcgcacgccatgtcttctttgtggatgactttgacgcctttaagaaa
atcgaagatgagttaattacttttgtctgcgaaacagcatcagcaacctgtccagtggta
cacaaggatggcattgatcttgcaggatttaagatgatggaaatgtttggtttggttgaa
aaagatttttcatcagtggaaggggtttctatggagcctggtaccttcaatgtgtttcca
tgttaccaactccataaagatgccctggtttcccagccaaccaggtacttgcacccagaa
ggattgccctccgactacacaatcagttttctattccggattcttcctgacactccacag
gagccatttgctctttgggagattttaaataaaaattctgacccattggttggggttatt
ttagacaatggtgggaaaactctaacatatttcaactatgaccagagtggggattttcaa
actgttactttcgaaggacctgaaattaggaaaattttttatggaagctttcacaagcta
cacattgttgtcagtgagactttggtcaaagtggttattgactgcaagcaagtgggtgag
aaggcaatgaacgcatcagctaatatcacgtcagatggtgtagaagtgctagggaaaatg
gttcgatcaagaggaccaggtggaaactctgcaccgttccagttacagatgtttgatatt
gtttgctccacatcatgggccaatacagacaaatgctgtgaacttccaggcctgagagat
gatgagtcttgcccagaccttccccattcctgctcctgttctgaaaccaatgaagtggct
ctgggaccagcgggcccaccaggtggtccaggactccgaggaccaaagggccagcaaggt
gaaccgggtccaaagggaccagatggccctcggggtgaaattggtctgccaggacctcag
ggtccacctggacctcaaggaccaagtggtctgtccattcaaggaatgcccggaatgcca
ggagaaaaaggagagaaaggagatactggccttccaggtccacagggtatcccaggaggc
gttggttcaccaggacgtgatggctcaccaggccagaggggccttccgggaaaggatgga
tcctcgggacctccaggaccaccagggccaataggcattcctggcacccctggagtccca
gggatcacaggaagcatgggaccgcaaggcgccctgggaccacctggtgtccctggagca
aagggggaacgaggagagcggggtgacctgcagtctcaagccatggtgagatcagtggcg
cgtcaagtatgcgaacagctcatccagagtcacatggccaggtacactgccatcctcaac
cagattcccagccactcctcatccatccggactgtccaagggcctcctggggagcctggg
aggccaggctcacctggagcccctggtgaacaaggacccccaggcacaccaggcttcccc
ggaaatgcaggcgtgccagggaccccaggagaacgaggtctaactggtatcaaaggagaa
aaaggaaatccaggcgttggaacccaaggtccaagaggcccccctggaccagcaggacct
tcaggggagagtcggcctggcagccctgggccccctggctctcctggaccaagaggccca
ccaggtcatctgggggttcctggaccccaaggtccttctggccagcctggatattgtgac
ccctcatcatgttctgcctatggtgtgagagctccccatccagatcagccagagttcacc
cctgtccaagatgagctggaagccatggaactgtggggccctggagtctga

KEGG   Homo sapiens (human): 80781
Entry
80781             CDS       T01001                                 

Gene name
COL18A1, GLCC, KNO, KNO1, KS
Definition
(RefSeq) collagen type XVIII alpha 1 chain
  KO
K06823  collagen type XVIII alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04974  Protein digestion and absorption
Disease
H00805  Vitreoretinal degeneration
H02074  Knobloch syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    80781 (COL18A1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    80781 (COL18A1)
   00535 Proteoglycans [BR:hsa00535]
    80781 (COL18A1)
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    80781 (COL18A1)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   80781 (COL18A1)
Proteoglycans [BR:hsa00535]
 Extracellular matrix (ECM) proteoglycans
  Basement membrane proteoglycans
   80781 (COL18A1)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Heparin
  Extracellular matrix molecules
   80781 (COL18A1)
SSDB
Motif
Pfam: Endostatin Collagen DUF959 Fz Laminin_G_3
Other DBs
NCBI-GeneID: 80781
NCBI-ProteinID: NP_569711
OMIM: 120328
HGNC: 2195
Ensembl: ENSG00000182871
Vega: OTTHUMG00000090407
Pharos: P39060(Tbio)
UniProt: P39060
Structure
PDB: 
6HG7 3HSH 1BNL 3HON

Position
21q22.3
AA seq 1751 aa
MAPYPCGCHILLLLFCCLAAARANLLNLNWLWFNNEDTSHAATTIPEPQGPLPVQPTADT
TTHVTPRNGSTEPATAPGSPEPPSELLEDGQDTPTSAESPDAPEENIAGVGAEILNVAKG
IRSFVQLWNDTVPTESLARAETLVLETPVGPLALAGPSSTPQENGTTLWPSRGIPSSPGA
HTTEAGTLPAPTPSPPSLGRPWAPLTGPSVPPPSSGRASLSSLLGGAPPWGSLQDPDSQG
LSPAAAAPSQQLQRPDVRLRTPLLHPLVMGSLGKHAAPSAFSSGLPGALSQVAVTTLTRD
SGAWVSHVANSVGPGLANNSALLGADPEAPAGRCLPLPPSLPVCGHLGISRFWLPNHLHH
ESGEQVRAGARAWGGLLQTHCHPFLAWFFCLLLVPPCGSVPPPAPPPCCQFCEALQDACW
SRLGGGRLPVACASLPTQEDGYCVLIGPAAERISEEVGLLQLLGDPPPQQVTQTDDPDVG
LAYVFGPDANSGQVARYHFPSLFFRDFSLLFHIRPATEGPGVLFAITDSAQAMVLLGVKL
SGVQDGHQDISLLYTEPGAGQTHTAASFRLPAFVGQWTHLALSVAGGFVALYVDCEEFQR
MPLARSSRGLELEPGAGLFVAQAGGADPDKFQGVIAELKVRRDPQVSPMHCLDEEGDDSD
GASGDSGSGLGDARELLREETGAALKPRLPAPPPVTTPPLAGGSSTEDSRSEEVEEQTTV
ASLGAQTLPGSDSVSTWDGSVRTPGGRVKEGGLKGQKGEPGVPGPPGRAGPPGSPCLPGP
PGLPCPVSPLGPAGPALQTVPGPQGPPGPPGRDGTPGRDGEPGDPGEDGKPGDTGPQGFP
GTPGDVGPKGDKGDPGVGERGPPGPQGPPGPPGPSFRHDKLTFIDMEGSGFGGDLEALRG
PRGFPGPPGPPGVPGLPGEPGRFGVNSSDVPGPAGLPGVPGREGPPGFPGLPGPPGPPGR
EGPPGRTGQKGSLGEAGAPGHKGSKGAPGPAGARGESGLAGAPGPAGPPGPPGPPGPPGP
GLPAGFDDMEGSGGPFWSTARSADGPQGPPGLPGLKGDPGVPGLPGAKGEVGADGVPGFP
GLPGREGIAGPQGPKGDRGSRGEKGDPGKDGVGQPGLPGPPGPPGPVVYVSEQDGSVLSV
PGPEGRPGFAGFPGPAGPKGNLGSKGERGSPGPKGEKGEPGSIFSPDGGALGPAQKGAKG
EPGFRGPPGPYGRPGYKGEIGFPGRPGRPGMNGLKGEKGEPGDASLGFGMRGMPGPPGPP
GPPGPPGTPVYDSNVFAESSRPGPPGLPGNQGPPGPKGAKGEVGPPGPPGQFPFDFLQLE
AEMKGEKGDRGDAGQKGERGEPGGGGFFGSSLPGPPGPPGPRGYPGIPGPKGESIRGQPG
PPGPQGPPGIGYEGRQGPPGPPGPPGPPSFPGPHRQTISVPGPPGPPGPPGPPGTMGASS
GVRLWATRQAMLGQVHEVPEGWLIFVAEQEELYVRVQNGFRKVQLEARTPLPRGTDNEVA
ALQPPVVQLHDSNPYPRREHPHPTARPWRADDILASPPRLPEPQPYPGAPHHSSYVHLRP
ARPTSPPAHSHRDFQPVLHLVALNSPLSGGMRGIRGADFQCFQQARAVGLAGTFRAFLSS
RLQDLYSIVRRADRAAVPIVNLKDELLFPSWEALFSGSEGPLKPGARIFSFDGKDVLRHP
TWPQKSVWHGSDPNGRRLTESYCETWRTEAPSATGQASSLLGGRLLGQSAASCHHAYIVL
CIENSFMTASK
NT seq 5256 nt   +upstreamnt  +downstreamnt
atggctccctacccctgtggctgccacatcctgctgctgctcttctgctgcctggcggct
gcccgggccaacctgctgaacctgaactggctttggttcaataatgaggacaccagccat
gcagctaccacgatccctgagccccaggggcccctgcctgtgcagcccacagcagatacc
accacacacgtgaccccccggaatggttccacagagccagcgacagcccctggcagccct
gagccaccctcagagctgctggaagatggccaggacacccccacttctgccgagagcccg
gacgcgccagaggagaacattgccggtgtcggagccgagatcctgaacgtggccaaaggc
atccggagcttcgtccagctgtggaatgacactgtccccactgagagcttggccagggcg
gaaaccctggtcctggagactcctgtgggcccccttgccctcgctgggccttccagcacc
ccccaggagaatgggaccactctctggcccagccgtggcattcctagctctccgggcgcc
cacacaaccgaggctggcaccttgcctgcacccaccccatcgcctccctccctgggcagg
ccctgggcaccactcacggggccctcagtgccaccaccatcttcaggtagagcttctctc
tcctccttgctgggcggggcccctccctggggaagcctgcaggacccagacagccaagga
ctctcgcccgccgcagccgctcccagccagcagctccaacgccctgacgtccgcctgcgc
acgccacttctgcaccccctggtgatgggctccctgggcaagcacgcggccccctccgcc
ttctcctctgggctcccgggcgcactgtctcaggtcgcagtcaccactttaaccagggac
agcggtgcttgggtctcccacgtggctaactctgtggggccgggtcttgctaataactct
gccctgctcggggctgaccccgaggcccccgccggtcgctgcctgcccctgccaccctcc
ctgccagtctgcggccacctgggcatctcacgcttctggctgcccaaccacctccaccac
gagagcggcgagcaggtgcgggccggggcacgggcgtgggggggcctgctgcagacgcac
tgccaccccttcctcgcctggttcttctgcctgctgctggtccccccatgcggcagcgtc
ccgccgcccgccccgccaccctgctgccagttctgcgaggccctgcaggatgcgtgttgg
agccgcctgggcgggggccggctgcccgtcgcctgtgcctcgctcccgacccaggaggat
gggtactgtgtgctcattgggccggctgcagagcgcatcagcgaggaggtggggctgctg
cagctccttggggaccccccgccccagcaggtcacccagacggatgaccccgacgtcggg
ctggcctacgtctttgggccagatgccaacagtggccaagtggcccggtaccacttcccc
agcctcttcttccgtgacttctcactgctgttccacatccggccagccacagagggccca
ggggtgctgttcgccatcacggactcggcgcaggccatggtcttgctgggcgtgaagctc
tctggggtgcaggacgggcaccaggacatctccctgctctacacagaaccaggtgcaggc
cagacccacacagccgccagcttccggctccccgccttcgtcggccagtggacacactta
gccctcagtgtggcaggtggctttgtggccctctacgtggactgtgaggagttccagaga
atgccgcttgctcggtcctcacggggcctggagctggagcctggcgccgggctcttcgtg
gctcaggcggggggagcggaccctgacaagttccagggggtgatcgctgagctgaaggtg
cgcagggacccccaggtgagccccatgcactgcctggacgaggaaggcgatgactcagat
ggggcatccggagactctggcagcgggctcggggacgcccgggagcttctcagggaggag
acgggcgcggccctaaaacccaggctccccgcgccaccccccgtcaccacgccacccttg
gctggaggcagcagcacggaagattccagaagtgaagaagtcgaggagcagaccacggtg
gcttcgttaggagctcagacacttcctggctcagattctgtctccacgtgggacgggagt
gtccggacccctgggggccgcgtgaaagagggcggcctgaaggggcagaaaggggagcca
ggtgttccgggcccacctggccgggcaggccccccaggatccccatgcctacctggtccc
ccgggtctcccgtgcccagtgagtcccctgggtcctgcaggcccagcgttgcaaactgtc
cccggaccacaaggacccccagggcctccggggagggacggcacccctggaagggacggc
gagccgggcgaccccggtgaagacggaaagccgggcgacaccgggccacaaggcttcccc
gggactccaggggacgtaggtcccaagggcgacaagggagaccctggggttggagagaga
gggcccccaggaccccaagggcctccagggcccccaggaccctccttcagacacgacaag
ctgaccttcattgacatggagggatctggcttcgggggcgatctggaggccctgcggggt
cctcgaggcttccctggacctcccggaccccccggtgtcccaggcctgcccggcgagcca
ggccgctttggggtgaacagctccgacgtcccaggacccgccggccttcctggtgtgcct
gggcgcgagggtccccccgggtttcctggcctcccgggacccccaggccctccgggaaga
gaggggcccccaggaaggactgggcagaaaggcagcctgggtgaagcaggcgccccagga
cataaggggagcaagggagcccccggtcctgctggtgctcgtggggagagcggcctggca
ggagcccccggacctgctggaccaccaggcccccctgggccccctgggcccccaggacca
ggactccccgctggatttgatgacatggaaggctccggggggcccttctggtcaacagcc
cgaagcgctgatgggccacagggacctcccggcctgccgggacttaagggggatcctggc
gtgcctgggctgccgggggcgaagggagaagttggagcagatggagtccccgggttcccc
ggcctccctggcagagagggcattgctgggccccaggggccaaagggagacagaggcagc
cggggagaaaagggagatccagggaaggacggagtcgggcagccgggcctccctggcccc
cccggacccccgggacctgtggtctacgtgtcggagcaggacggatccgtcctgagcgtg
ccgggacctgagggccggccgggtttcgcaggctttcccggacctgcaggacccaagggc
aacctgggctctaagggcgaacgaggctccccgggacccaagggtgagaagggtgaaccg
ggcagcatcttcagccccgacggcggtgccctgggccctgcccagaaaggagccaaggga
gagccgggcttccgaggacccccgggtccatacggacggccggggtacaagggagagatt
ggctttcctggacggccgggtcgccccgggatgaacggattgaaaggagagaaaggggag
ccgggagatgccagccttggatttggcatgaggggaatgcccggccccccaggacctcca
gggcccccaggccctccagggactcctgtttacgacagcaatgtgtttgctgagtccagc
cgccccgggcctccaggattgccagggaatcagggccctccaggacccaagggcgccaaa
ggagaagtgggcccccccggaccaccagggcagtttccgtttgactttcttcagttggag
gctgaaatgaagggggagaagggagaccgaggtgatgcaggacagaaaggcgaaaggggg
gagcccgggggcggcggtttcttcggctccagcctgcccggcccccccggccccccaggc
ccacgtggctaccctgggattccaggtcccaagggagagagcatccggggccagcccggc
ccacctggacctcagggaccccccggcatcggctacgaggggcgccagggccctcccggc
cccccaggccccccagggcccccttcatttcctggccctcacaggcagactatcagcgtt
cccggccctccgggcccccctgggccccctgggccccctggaaccatgggcgcctcctca
ggggtgaggctctgggctacacgccaggccatgctgggccaggtgcacgaggttcccgag
ggctggctcatcttcgtggccgagcaggaggagctctacgtccgcgtgcagaacgggttc
cggaaggtccagctggaggcccggacaccactcccacgagggacggacaatgaagtggcc
gccttgcagccccccgtggtgcagctgcacgacagcaacccctacccgcggcgggagcac
ccccaccccaccgcgcggccctggcgggcagatgacatcctggccagcccccctcgcctg
cccgagccccagccctaccccggagccccgcaccacagctcctacgtgcacctgcggccg
gcgcgacccacaagcccacccgcccacagccaccgcgacttccagccggtgctccacctg
gttgcgctcaacagccccctgtcaggcggcatgcggggcatccgcggggccgacttccag
tgcttccagcaggcgcgggccgtggggctggcgggcaccttccgcgccttcctgtcctcg
cgcctgcaggacctgtacagcatcgtgcgccgtgccgaccgcgcagccgtgcccatcgtc
aacctcaaggacgagctgctgtttcccagctgggaggctctgttctcaggctctgagggt
ccgctgaagcccggggcacgcatcttctcctttgacggcaaggacgtcctgaggcacccc
acctggccccagaagagcgtgtggcatggctcggaccccaacgggcgcaggctgaccgag
agctactgtgagacgtggcggacggaggctccctcggccacgggccaggcctcctcgctg
ctggggggcaggctcctggggcagagtgccgcgagctgccatcacgcctacatcgtgctc
tgcattgagaacagcttcatgactgcctccaagtag

KEGG   Homo sapiens (human): 81578
Entry
81578             CDS       T01001                                 

Gene name
COL21A1, COLA1L, FP633
Definition
(RefSeq) collagen type XXI alpha 1 chain
  KO
K16629  collagen type XXI alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04974  Protein digestion and absorption
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    81578 (COL21A1)
SSDB
Motif
Pfam: Collagen VWA VWA_2 VWA_3 Laminin_G_2 Laminin_G_3
Other DBs
NCBI-GeneID: 81578
NCBI-ProteinID: NP_001305680
OMIM: 610002
HGNC: 17025
Ensembl: ENSG00000124749
Vega: OTTHUMG00000014907
Pharos: Q96P44(Tbio)
UniProt: Q96P44 B7ZLK3 A0A158RFW1
Position
6p12.1; 6p12.3-p11.2
AA seq 957 aa
MAHYITFLCMVLVLLLQNSVLAEDGEVRSSCRTAPTDLVFILDGSYSVGPENFEIVKKWL
VNITKNFDIGPKFIQVGVVQYSDYPVLEIPLGSYDSGEHLTAAVESILYLGGNTKTGKAI
QFALDYLFAKSSRFLTKIAVVLTDGKSQDDVKDAAQAARDSKITLFAIGVGSETEDAELR
AIANKPSSTYVFYVEDYIAISKIREVMKQKLCEESVCPTRIPVAARDERGFDILLGLDVN
KKVKKRIQLSPKKIKGYEVTSKVDLSELTSNVFPEGLPPSYVFVSTQRFKVKKIWDLWRI
LTIDGRPQIAVTLNGVDKILLFTTTSVINGSQVVTFANPQVKTLFDEGWHQIRLLVTEQD
VTLYIDDQQIENKPLHPVLGILINGQTQIGKYSGKEETVQFDVQKLRIYCDPEQNNRETA
CEIPGFNGECLNGPSDVGSTPAPCICPPGKPGLQGPKGDPGLPGNPGYPGQPGQDGKPGY
QGIAGTPGVPGSPGIQGARGLPGYKGEPGRDGDKGDRGLPGFPGLHGMPGSKGEMGAKGD
KGSPGFYGKKGAKGEKGNAGFPGLPGPAGEPGRHGKDGLMGSPGFKGEAGSPGAPGQDGT
RGEPGIPGFPGNRGLMGQKGEIGPPGQQGKKGAPGMPGLMGSNGSPGQPGTPGSKGSKGE
PGIQGMPGASGLKGEPGATGSPGEPGYMGLPGIQGKKGDKGNQGEKGIQGQKGENGRQGI
PGQQGIQGHHGAKGERGEKGEPGVRGAIGSKGESGVDGLMGPAGPKGQPGDPGPQGPPGL
DGKPGREFSEQFIRQVCTDVIRAQLPVLLQSGRIRNCDHCLSQHGSPGIPGPPGPIGPEG
PRGLPGLPGRDGVPGLVGVPGRPGVRGLKGLPGRNGEKGSQGFGYPGEQGPPGPPGPEGP
PGISKEGPPGDPGLPGKDGDHGKPGIQGQPGPPGICDPSLCFSVIARRDPFRKGPNY
NT seq 2874 nt   +upstreamnt  +downstreamnt
atggctcactatattacatttctctgcatggttttggtgctgcttcttcagaattctgtg
ttagctgaagatggggaagtaagatcaagttgtcgtactgctccgacagatttagttttc
atcttagatggctcttatagtgttggcccagaaaactttgaaatagtgaaaaagtggctt
gtcaatatcacaaaaaactttgacatagggccgaagtttattcaagttggagtggttcaa
tatagtgactaccctgtgctggagattcctctcggaagctatgattcaggagaacatttg
acggcagcagtggaatccatactctacttaggaggaaacacaaagacagggaaggccatc
cagtttgcgctcgattacctttttgccaagtcctcacgatttctgactaagatagcagtg
gtacttacggatggcaaatcccaagatgacgtcaaggatgcagctcaagcagcaagagat
agtaagataacattatttgctattggtgttggttcagaaacagaagatgccgaacttaga
gctattgccaacaagccttcgtctacttatgtgttttatgtggaagactatattgcaata
tccaaaataagggaagtgatgaagcagaaactttgtgaagaatctgtctgtccaacacga
attccagtggcagctcgtgatgaaaggggatttgatattcttttaggtttagatgtaaat
aaaaaggttaagaaaagaatacagctttcaccaaaaaagataaaaggatatgaagtaaca
tcaaaagttgatttatcagaactcacaagcaatgttttcccagaaggtcttcctccatca
tatgtatttgtgtctactcaaagatttaaagtcaagaaaatttgggatttatggagaata
ttaactattgatggaaggccacaaatagcagttaccttaaatggtgtggacaaaatctta
ttatttacaacaaccagcgtaattaatggctcacaagtggttacctttgctaaccctcaa
gttaagacgttgtttgatgaaggctggcaccaaattcgtctcttagtaacagaacaagat
gtgactttgtatattgatgaccaacaaattgaaaacaagcccttacatccagttttaggg
atcttgatcaatgggcaaacccaaattggaaaatattctggaaaagaagaaactgttcag
tttgatgtccaaaagttgcgaatctactgtgacccagaacagaacaaccgggagacagca
tgtgagattcctggatttaatggagagtgccttaatggtcccagtgatgtaggttcaact
ccagctccctgtatttgtcctccgggaaaaccaggacttcaaggccccaaaggtgaccct
ggactgcctgggaaccctggctaccctggacaacctggtcaagatggtaagcctggatat
cagggaattgcagggacaccaggtgttccaggatctccaggaatacaaggagctcgagga
ctaccaggttacaaaggagaaccagggcgagatggtgacaagggtgatcgtggacttcct
ggttttcctgggcttcatggcatgccaggatcaaagggtgaaatgggtgccaaaggagac
aaaggatcacctggattttatggcaaaaagggtgcaaaaggtgaaaaggggaatgctggc
ttccctggcctccctggacctgctggagaaccaggaagacatggaaaggatggattaatg
ggtagtcccggtttcaagggagaagcaggatcccctggtgctccggggcaggatggaaca
cggggagagcctggaatcccaggatttcctggaaaccgaggattaatgggccaaaaggga
gaaattgggcctccaggacagcaaggaaaaaaaggagccccagggatgcctggtttaatg
ggaagcaatggctcaccaggccagcctggaacaccgggatctaagggaagcaaaggtgaa
cctggaattcaagggatgcctggggcttctgggctcaagggagaaccaggagcaacgggt
tccccaggagaaccaggatacatgggtttacccgggattcaaggaaaaaagggggacaaa
ggaaatcaaggtgaaaaaggtattcagggtcaaaagggagaaaatggaagacagggaatt
ccagggcaacagggaattcaaggccatcatggtgcaaaaggagagagaggtgaaaaggga
gaacctggtgtccgaggtgccattggatcaaaaggagaatctggggtggatggcttgatg
gggcccgcaggtcctaaggggcaacctggggatccaggtcctcagggacccccaggtttg
gatgggaagcccggaagagagttttcagaacaatttattcgacaagtttgcacagatgta
ataagagcccagctaccagtcttacttcagagtggaagaattagaaattgtgatcattgc
ctgtcccaacatggctccccgggtattcctgggccacctggtccgataggcccagagggt
cccagaggattacctggtttgccaggaagagatggtgttcctggattagtgggtgtccct
ggacgtccaggtgtcagaggattaaaaggcctaccaggaagaaatggggaaaaagggagc
caagggtttgggtatcctggagaacaaggtcctcctggtcccccaggtccagagggccct
cctggaataagcaaagaaggtcctccaggagacccaggtctccctggcaaagatggagac
catggaaaacctggaatccaagggcaaccaggccccccaggcatctgcgacccatcacta
tgttttagtgtaattgccagaagagatccgttcagaaaaggaccaaactattag

KEGG   Homo sapiens (human): 85301
Entry
85301             CDS       T01001                                 

Gene name
COL27A1, STLS
Definition
(RefSeq) collagen type XXVII alpha 1 chain
  KO
K19721  collagen type V/XI/XXIV/XXVII, alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04974  Protein digestion and absorption
Disease
H02300  Steel syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    85301 (COL27A1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    85301 (COL27A1)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Heparin
  Extracellular matrix molecules
   85301 (COL27A1)
SSDB
Motif
Pfam: Collagen COLFI Laminin_G_2 Laminin_G_3
Other DBs
NCBI-GeneID: 85301
NCBI-ProteinID: NP_116277
OMIM: 608461
HGNC: 22986
Ensembl: ENSG00000196739
Vega: OTTHUMG00000020537
Pharos: Q8IZC6(Tbio)
UniProt: Q8IZC6
Position
9q32
AA seq 1860 aa
MGAGSARGARGTAAAAAARGGGFLFSWILVSFACHLASTQGAPEDVDILQRLGLSWTKAG
SPAPPGVIPFQSGFIFTQRARLQAPTGTVIPAALGTELALVLSLCSHRVNHAFLFAVRSQ
KRKLQLGLQFLPGKTVVHLGSRRSVAFDLDMHDGRWHHLALELRGRTVTLVTACGQRRVP
VLLPFHRDPALDPGGSFLFGKMNPHAVQFEGALCQFSIYPVTQVAHNYCTHLRKQCGQAD
TYQSPLGPLFSQDSGRPFTFQSDLALLGLENLTTATPALGSLPAGRGPRGTVAPATPTKP
QRTSPTNPHQHMAVGGPAQTPLLPAKLSASNALDPMLPASVGGSTRTPRPAAAQPSQKIT
ATKIPKSLPTKPSAPSTSIVPIKSPHPTQKTAPSSFTKSALPTQKQVPPTSRPVPARVSR
PAEKPIQRNPGMPRPPPPSTRPLPPTTSSSKKPIPTLARTEAKITSHASKPASARTSTHK
PPPFTALSSSPAPTPGSTRSTRPPATMVPPTSGTSTPRTAPAVPTPGSAPTGSKKPIGSE
ASKKAGPKSSPRKPVPLRPGKAARDVPLSDLTTRPSPRQPQPSQQTTPALVLAPAQFLSS
SPRPTSSGYSIFHLAGSTPFPLLMGPPGPKGDCGLPGPPGLPGLPGIPGARGPRGPPGPY
GNPGLPGPPGAKGQKGDPGLSPGKAHDGAKGDMGLPGLSGNPGPPGRKGHKGYPGPAGHP
GEQGQPGPEGSPGAKGYPGRQGLPGPVGDPGPKGSRGYIGLPGLFGLPGSDGERGLPGVP
GKRGKMGMPGFPGVFGERGPPGLDGNPGELGLPGPPGVPGLIGDLGVLGPIGYPGPKGMK
GLMGSVGEPGLKGDKGEQGVPGVSGDPGFQGDKGSQGLPGFPGARGKPGPLGKVGDKGSI
GFPGPPGPEGFPGDIGPPGDNGPEGMKGKPGARGLPGPRGQLGPEGDEGPMGPPGAPGLE
GQPGRKGFPGRPGLDGVKGEPGDPGRPGPVGEQGFMGFIGLVGEPGIVGEKGDRGMMGPP
GVPGPKGSMGHPGMPGGMGTPGEPGPQGPPGSRGPPGMRGAKGRRGPRGPDGPAGEQGSR
GLKGPPGPQGRPGRPGQQGVAGERGHLGSRGFPGIPGPSGPPGTKGLPGEPGPQGPQGPI
GPPGEMGPKGPPGAVGEPGLPGEAGMKGDLGPLGTPGEQGLIGQRGEPGLEGDSGPMGPD
GLKGDRGDPGPDGEHGEKGQEGLMGEDGPPGPPGVTGVRGPEGKSGKQGEKGRTGAKGAK
GYQGQLGEMGVPGDPGPPGTPGPKGSRGSLGPTGAPGRMGAQGEPGLAGYDGHKGIVGPL
GPPGPKGEKGEQGEDGKAEGPPGPPGDRGPVGDRGDRGEPGDPGYPGQEGVQGLRGKPGQ
QGQPGHPGPRGWPGPKGSKGAEGPKGKQGKAGAPGRRGVQGLQGLPGPRGVVGRQGLEGI
AGPDGLPGRDGQAGQQGEQGDDGDPGPMGPAGKRGNPGVAGLPGAQGPPGFKGESGLPGQ
LGPPGKRGTEGRTGLPGNQGEPGSKGQPGDSGEMGFPGMAGLFGPKGPPGDIGFKGIQGP
RGPPGLMGKEGIVGPLGILGPSGLPGPKGDKGSRGDWGLQGPRGPPGPRGRPGPPGPPGG
PIQLQQDDLGAAFQTWMDTSGALRPESYSYPDRLVLDQGGEIFKTLHYLSNLIQSIKTPL
GTKENPARVCRDLMDCEQKMVDGTYWVDPNLGCSSDTIEVSCNFTHGGQTCLKPITASKV
EFAISRVQMNFLHLLSSEVTQHITIHCLNMTVWQEGTGQTPAKQAVRFRAWNGQIFEAGG
QFRPEVSMDGCKVQDGRWHQTLFTFRTQDPQQLPIISVDNLPPASSGKQYRLEVGPACFL
NT seq 5583 nt   +upstreamnt  +downstreamnt
atgggagcgggatcggcgcggggggcccgaggcacagcggcggcggcggcggcgcgcggg
ggggggtttctcttctcctggatcttagtctcgtttgcctgtcacctggcctccacccaa
ggagctcctgaagatgtggacatcctccagcggctgggcctcagctggacgaaggccggg
agccctgcacccccgggagtcattcctttccagtcgggcttcatctttacgcagcgggcc
cggctccaggctcccacgggcaccgtcattcctgccgccttgggcacagagctggcactg
gtgctgagcctctgctcccaccgggtgaaccatgccttcctcttcgctgtccgcagccag
aaacgcaagctgcagctgggcctgcagttcctccccggcaagacggtcgtccacctcggg
tcccggcgctcagtggccttcgacctcgacatgcacgacgggcgctggcaccacctggcc
ctcgagctccgaggccgcacagtcactctggtgactgcctgcgggcagcgccgggtgcct
gtcctgctgcctttccacagggaccctgcactcgaccctgggggctccttcctctttggg
aagatgaacccgcatgcagtccagtttgaaggtgctctctgccagttcagtatctaccct
gtgacgcaggtcgctcacaattactgtacccacctgaggaagcagtgtggacaggctgac
acgtaccagtccccactgggacctctcttctcccaagactctggcagaccttttaccttc
cagtccgacctcgccctgctaggcctggagaacttgaccactgccacaccagccctgggg
tcactgccagcaggcaggggacccagggggactgtggcacccgccacgcccaccaagccc
caaaggactagccccacaaaccctcaccagcatatggcggtgggaggcccagcccaaacc
ccgctgctacctgccaagctgtcagccagtaacgcacttgatcccatgctcccagcctct
gttggcggctctaccagaacgcctcgccctgcggccgctcaaccatcacagaagatcaca
gccaccaaaatccccaaaagcctccctaccaagccttcggccccttctacttcaattgtg
cccatcaaaagcccccatcctacccagaaaacagctccatcttcatttacaaagtcagcc
ctacccactcagaagcaagtgccacctacttcccgtccagttcctgccagagtctcccgt
cccgcagagaagcccatccagaggaacccgggaatgcccaggcccccaccgcccagcacc
cggcccctacctcctaccaccagctcctctaaaaaacccattcccacactagctcggact
gaggccaagataaccagccatgccagtaagccggcctctgcccgcaccagcacccacaaa
cctcccccatttactgctttatcctcatctcctgcccctactcctggttctaccaggagt
actcggccaccagccacgatggtacctccaacttcgggcaccagcactcccagaacagca
cctgccgtccccactcctggctcagctcccactggaagcaagaagcccattggatcggaa
gcctcaaagaaagccggacccaagagcagcccccggaagcctgtccccctcagacctggg
aaggcagccagggatgtccccttgagcgatctgacaaccaggcctagccccagacagccc
cagcccagtcagcagaccaccccggccctggtattggccccggcgcaattcctgtcctcc
agcccccggcccacgagcagtggctattcgatcttccacctggcaggatctacgcctttc
cctctgctgatggggcctccgggacccaagggagactgtggcttgccgggtccccctggg
ctacctgggctacctggaatccctggtgcacgtgggcctcggggtcctcctgggccttat
ggaaatccaggtctccccggccctcctggagccaaaggacagaaaggggacccagggctc
tcaccaggaaaggcccacgatggggcaaagggtgacatgggcttgcctgggctctccggg
aatccaggacctccgggacgaaagggacacaagggctatcctggaccggcagggcacccc
ggagaacaggggcagccaggacctgagggcagcccaggggccaaaggttaccctggcagg
caggggttacctggaccggtaggagatcccggccccaaaggcagcaggggctacattggg
ctcccagggctcttcggcctgccagggtctgatggagaacgaggcctgcctggcgttcct
ggcaagaggggcaagatgggtatgccggggtttcctggagtctttggggaaagaggccct
cctggactggatggaaatcctggagaactgggcctgccaggcccccctggagtccccggc
ctcattggtgacttaggagtgttgggtccgattggctacccgggacccaagggcatgaag
ggactgatgggcagcgtgggggagcccggactgaaaggtgataagggtgaacaaggggtt
ccaggtgtgtcaggagatcccggattccaaggagacaaggggagccaggggttgccaggg
ttccccggtgcacgggggaagccagggcctctgggcaaagtcggagacaaaggatccatt
gggtttcccgggccccctggacccgagggattcccaggagacatcggcccccctggcgac
aatggcccagaaggcatgaagggtaagcctggagcccgaggcctgccgggaccccgtggg
cagctggggcccgagggagatgagggacccatggggccgccaggggcccctggcttggag
ggtcagcctggcaggaaggggtttcctgggaggcccggcctggatggcgtgaagggggaa
ccaggggatcctggtcggccggggcctgtgggagagcagggatttatgggattcattggt
ctggtcggggagccaggaatcgtgggagaaaagggtgatcgtggcatgatgggaccccca
ggcgtgcctggacccaaggggtcgatgggtcatcctggaatgccaggtggtatggggacc
cctggagagcctggaccccagggtcctccaggatctcgaggcccaccaggcatgagggga
gcaaagggacgtcggggcccccgaggaccggacggaccagctggggagcaagggtccagg
ggcctgaagggccctccaggaccccagggcagaccgggccggcctggacagcagggtgtg
gctggtgagcgaggccacttgggctcgagaggctttcctggcatcccgggtccctcaggc
cccccaggcaccaagggcctcccaggagaaccgggccctcagggaccccaggggccaatt
gggcctccaggagagatgggacccaaggggccgcctggtgcagtgggagaaccgggcctt
cctggggaagccgggatgaagggtgaccttggacccctgggcactcctggggagcagggc
ctcattgggcaacggggagagccaggccttgagggtgacagtggccccatgggacctgat
gggctgaagggggacaggggagacccagggcctgatggagaacatggcgagaaaggccag
gaagggctgatgggtgaggacgggccccccggcccccctggcgtcactggtgtccggggt
cctgaaggaaaatcagggaagcaaggcgagaagggccgcactggagccaagggtgccaag
ggctatcaaggacagctgggtgagatgggcgtccctggagaccctggaccccctggcact
ccaggccctaaagggtcccggggcagcctgggaccaacgggtgctccgggacgcatgggg
gcccaaggagaaccgggactggctggttatgatggacacaaaggcattgtgggacccctt
ggacctcctggaccaaaaggcgaaaagggggagcagggcgaggacggcaaggctgagggg
ccccctgggccacctggagatcggggccctgtgggtgatcgaggagaccgcggggaaccg
ggagaccctgggtaccctggacaggagggtgtgcaaggcctccgtggaaagccaggccag
cagggccaacccgggcatccgggaccccgggggtggccgggacccaaaggatcgaaaggc
gcagagggaccaaagggaaagcaaggcaaggcaggggccccaggccggaggggggtccag
ggcctgcaggggctgccagggccccggggcgtggtggggagacagggcctcgagggcatc
gctggaccagatgggcttcctggcagggacgggcaagcaggacagcagggggagcaggga
gacgatggggaccctggccccatgggccctgctgggaagagaggaaatccaggtgtggcc
ggcttacctggagcacagggacccccaggattcaagggtgagagtgggttacccggacag
ctgggtccccctggcaagcgaggaacagagggcagaacggggctccctggaaaccagggg
gagcctgggtccaaaggccagccgggcgactctggcgagatgggcttcccaggaatggca
ggtctcttcggacccaagggcccgcctggagacattggcttcaaaggcatccagggccct
cgggggccacctggcttgatgggaaaggaaggcatcgtcgggcccctcggaatcctggga
ccttcgggactcccgggtccgaagggtgacaaaggcagccgtggggactggggattgcaa
ggtccgaggggtcctcccggccccagagggcggcccggccccccgggtcctccagggggt
cctatccaattgcaacaagatgatcttggggcagctttccagacgtggatggacaccagt
ggagcactcaggccagagagttacagctatccagaccggctggtgctggaccagggagga
gagatctttaaaaccttacactacctcagcaacctcatccagagcattaagacgcccctg
ggcaccaaagagaaccccgcccgggtctgcagggacctcatggactgtgagcagaagatg
gtggatggtacctactgggtggatccaaaccttggctgctcctctgacaccatcgaggtc
tcctgcaacttcactcatggtggacagacgtgtctcaagcccatcacggcctccaaggtc
gagtttgccatcagccgggtccagatgaatttcctgcacctgctaagctccgaggtgacc
cagcacatcaccatccactgccttaacatgaccgtgtggcaggagggcactgggcagacc
ccagccaagcaggccgtacgcttccgggcctggaatggacagatttttgaagctgggggt
cagttccggcccgaggtgtccatggatggctgcaaggtccaagatggccgctggcatcag
acactcttcaccttccggacccaagacccccaacagctgcccatcatcagtgtggacaac
ctccctcctgcctcatcagggaagcagtaccgcctggaagttggacctgcgtgcttcctc
tga

DBGET integrated database retrieval system