COL5A1

Protein identityUniProt · HPA

UniProt accession

P20908

Gene

COL5A1

Ensembl

ENSG00000130635

Chromosome

9

Canonical length

1838 aa

Protein class

Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted secreted proteins

Subcellular location

Vesicles

Secretome location

Secreted to extracellular matrix

OverviewNCBI Gene

This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]

Canonical amino-acid sequenceUniProt

1838 residues, UniProt reviewed canonical sequence.

>P20908|COL5A1
     1  MDVHTRWKAR SALRPGAPLL PPLLLLLLWA PPPSRAAQPA DLLKVLDFHN LPDGITKTTG
    61  FCATRRSSKG PDVAYRVTKD AQLSAPTKQL YPASAFPEDF SILTTVKAKK GSQAFLVSIY
   121  NEQGIQQIGL ELGRSPVFLY EDHTGKPGPE DYPLFRGINL SDGKWHRIAL SVHKKNVTLI
   181  LDCKKKTTKF LDRSDHPMID INGIIVFGTR ILDEEVFEGD IQQLLFVSDH RAAYDYCEHY
   241  SPDCDTAVPD TPQSQDPNPD EYYTEGDGEG ETYYYEYPYY EDPEDLGKEP TPSKKPVEAA
   301  KETTEVPEEL TPTPTEAAPM PETSEGAGKE EDVGIGDYDY VPSEDYYTPS PYDDLTYGEG
   361  EENPDQPTDP GAGAEIPTST ADTSNSSNPA PPPGEGADDL EGEFTEETIR NLDENYYDPY
   421  YDPTSSPSEI GPGMPANQDT IYEGIGGPRG EKGQKGEPAI IEPGMLIEGP PGPEGPAGLP
   481  GPPGTMGPTG QVGDPGERGP PGRPGLPGAD GLPGPPGTML MLPFRFGGGG DAGSKGPMVS
   541  AQESQAQAIL QQARLALRGP AGPMGLTGRP GPVGPPGSGG LKGEPGDVGP QGPRGVQGPP
   601  GPAGKPGRRG RAGSDGARGM PGQTGPKGDR GFDGLAGLPG EKGHRGDPGP SGPPGPPGDD
   661  GERGDDGEVG PRGLPGEPGP RGLLGPKGPP GPPGPPGVTG MDGQPGPKGN VGPQGEPGPP
   721  GQQGNPGAQG LPGPQGAIGP PGEKGPLGKP GLPGMPGADG PPGHPGKEGP PGEKGGQGPP
   781  GPQGPIGYPG PRGVKGADGI RGLKGTKGEK GEDGFPGFKG DMGIKGDRGE IGPPGPRGED
   841  GPEGPKGRGG PNGDPGPLGP PGEKGKLGVP GLPGYPGRQG PKGSIGFPGF PGANGEKGGR
   901  GTPGKPGPRG QRGPTGPRGE RGPRGITGKP GPKGNSGGDG PAGPPGERGP NGPQGPTGFP
   961  GPKGPPGPPG KDGLPGHPGQ RGETGFQGKT GPPGPPGVVG PQGPTGETGP MGERGHPGPP
  1021  GPPGEQGLPG LAGKEGTKGD PGPAGLPGKD GPPGLRGFPG DRGLPGPVGA LGLKGNEGPP
  1081  GPPGPAGSPG ERGPAGAAGP IGIPGRPGPQ GPPGPAGEKG APGEKGPQGP AGRDGLQGPV
  1141  GLPGPAGPVG PPGEDGDKGE IGEPGQKGSK GDKGEQGPPG PTGPQGPIGQ PGPSGADGEP
  1201  GPRGQQGLFG QKGDEGPRGF PGPPGPVGLQ GLPGPPGEKG ETGDVGQMGP PGPPGPRGPS
  1261  GAPGADGPQG PPGGIGNPGA VGEKGEPGEA GEPGLPGEGG PPGPKGERGE KGESGPSGAA
  1321  GPPGPKGPPG DDGPKGSPGP VGFPGDPGPP GEPGPAGQDG PPGDKGDDGE PGQTGSPGPT
  1381  GEPGPSGPPG KRGPPGPAGP EGRQGEKGAK GEAGLEGPPG KTGPIGPQGA PGKPGPDGLR
  1441  GIPGPVGEQG LPGSPGPDGP PGPMGPPGLP GLKGDSGPKG EKGHPGLIGL IGPPGEQGEK
  1501  GDRGLPGPQG SSGPKGEQGI TGPSGPIGPP GPPGLPGPPG PKGAKGSSGP TGPKGEAGHP
  1561  GPPGPPGPPG EVIQPLPIQA SRTRRNIDAS QLLDDGNGEN YVDYADGMEE IFGSLNSLKL
  1621  EIEQMKRPLG TQQNPARTCK DLQLCHPDFP DGEYWVDPNQ GCSRDSFKVY CNFTAGGSTC
  1681  VFPDKKSEGA RITSWPKENP GSWFSEFKRG KLLSYVDAEG NPVGVVQMTF LRLLSASAHQ
  1741  NVTYHCYQSV AWQDAATGSY DKALRFLGSN DEEMSYDNNP YIRALVDGCA TKKGYQKTVL
  1801  EIDTPKVEQV PIVDIMFNDF GEASQKFGFE VGPACFMG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against COL5A1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Secreted

Secreted

Yes

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.6

Highest tissue expression

145 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about COL5A1.

Disease | AllUniProt

Conditions COL5A1 is implicated in, by any mechanism.

• Ehlers-Danlos syndrome, classic type, 1 (EDSCL1) MIM:130000
• Fibromuscular dysplasia, multifocal (FMDMF) MIM:619329

Disease | GeneticClinVar

376 pathogenic / likely-pathogenic of 4,266 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Ehlers-Danlos syndrome, classic type, 1
• Ehlers-Danlos syndrome, classic type
• Familial thoracic aortic aneurysm and aortic dissection
• Ehlers-Danlos syndrome
• Fibromuscular dysplasia, multifocal

Disease | ImmuneIEDB

Conditions an epitope on COL5A1 was assayed in.

• rheumatoid arthritis T cell
• Lyme disease T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.06

gnomAD pLI

1

gnomAD missense Z

2.07

DepMap mean gene effect

-0.13

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• blood vessel development
• cell adhesion
• cell migration
• collagen biosynthetic process
• collagen fibril organization
• eye morphogenesis
• heart morphogenesis
• negative regulation of endodermal cell differentiation
• skin development
• supramolecular fiber organization
• tendon development
• wound healing, spreading of epidermal cells
• integrin biosynthetic process

Molecular functions

• extracellular matrix structural constituent conferring tensile strength
• heparin binding
• integrin binding
• metal ion binding
• platelet-derived growth factor binding
• proteoglycan binding

Cellular components

• basement membrane
• collagen type V trimer
• collagen type XI trimer
• endoplasmic reticulum lumen
• extracellular matrix
• extracellular region

Protein domainsUniProt · Pfam · InterPro

• Fibrillar collagen, C-terminal
• Laminin G domain
• Collagen triple helix repeat
• Concanavalin A-like lectin/glucanase domain superfamily
• Thrombospondin-like, N-terminal domain
• Collagen superfamily
• Collagen triple helix repeat (20 copies)
• Fibrillar collagen C-terminal domain
• Laminin G domain

KeywordsUniProt

• Calcium
• Collagen
• Disulfide bond
• Ehlers-Danlos syndrome
• Extracellular matrix
• Heparin-binding
• Hydroxylation
• Metal-binding
• Repeat
• Secreted
• Signal
• Sulfation

InteractionsUniProt · HPA

Protein binding partners of COL5A1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CSPG4