Collagen, type V, alpha 1

Collagen alpha-1(V) chain is a protein that in humans is encoded by the COL5A1 gene.^[5][6]

AliasesCOL5A1, EDSC, collagen type V alpha 1, collagen type V alpha 1 chain, EDSCL1, FMDMF

External IDsOMIM: 120215; MGI: 88457; GeneCards: COL5A1

PDBOrtholog search: PDBe RCSB

Chr.Chromosome 9 (human)^[1]

Quick facts COL5A1, Identifiers ...

COL5A1
Identifiers
Aliases	COL5A1, EDSC, collagen type V alpha 1, collagen type V alpha 1 chain, EDSCL1, FMDMF
External IDs	OMIM: 120215; MGI: 88457; GeneCards: COL5A1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1A89, 1A9A
Gene location (Human) Chr. Chromosome 9 (human)[1] Band 9q34.3 Start 134,641,803 bp[1] End 134,844,843 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 A3|2 19.38 cM Start 27,776,437 bp[2] End 27,929,526 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in stromal cell of endometrium periodontal fiber tendon of biceps brachii canal of the cervix tibia cartilage tissue body of uterus sural nerve skin of hip myometrium Top expressed in umbilical cord calvaria internal carotid artery efferent ductule external carotid artery vas deferens body of femur ascending aorta dermis fossa More reference expression data BioGPS More reference expression data
Gene ontology Molecular function extracellular matrix structural constituent metal ion binding integrin binding platelet-derived growth factor binding proteoglycan binding heparin binding protein binding extracellular matrix structural constituent conferring tensile strength Cellular component collagen endoplasmic reticulum lumen collagen type V trimer basement membrane extracellular exosome extracellular matrix extracellular space extracellular region collagen-containing extracellular matrix Biological process eye morphogenesis negative regulation of endodermal cell differentiation tendon development wound healing, spreading of epidermal cells integrin biosynthetic process heart morphogenesis regulation of cellular component organization extracellular matrix organization cell adhesion blood vessel development collagen biosynthetic process collagen catabolic process cell migration skin development collagen fibril organization supramolecular fiber organization Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 1289 12831 Ensembl ENSG00000130635 ENSMUSG00000026837 UniProt P20908 O88207 RefSeq (mRNA) NM_000093 NM_001278074 NM_015734 RefSeq (protein) NP_000084 NP_001265003 NP_056549 Location (UCSC) Chr 9: 134.64 – 134.84 Mb Chr 2: 27.78 – 27.93 Mb PubMed search [3] [4]
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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. Mutations in this gene are associated with Ehlers–Danlos syndrome, types I and II.^[6]