KEGG   Homo sapiens (human): 1289Help
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/Haparin
  Extracellular matrix molecules
   1289 (COL5A1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Collagen COLFI Laminin_G_2 Laminin_G_3 Laminin_G_1
Motif
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 AA seqDB search
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 NT seq  +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

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