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)
  09167 Endocrine and metabolic disease
   04933 AGE-RAGE signaling pathway in diabetic complications
    1288 (COL4A6)
  09172 Infectious disease: viral
   05165 Human papillomavirus infection
    1288 (COL4A6)
  09174 Infectious disease: parasitic
   05146 Amoebiasis
    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 / Haparin
  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

  All links  
Ontology (3)   
   KEGG BRITE (3)   
Pathway (10)   
   KEGG PATHWAY (10)   
Disease (4)   
   KEGG DISEASE (2)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (49)   
   KEGG ORTHOLOGY (1)   
   RefGene (38)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (11)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (9)   
DNA sequence (64)   
   RefSeq(nuc) (10)   
   GenBank (27)   
   EMBL (27)   
Protein domain (2)   
   Pfam (2)   
All databases (144)   

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