Collagen, type V, alpha 1

COL5A1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1A89, 1A9A
Identifiers
Aliases	COL5A1, EDSC, collagen type V alpha 1, collagen type V alpha 1 chain, EDSCL1, FMDMF
External IDs	OMIM: 120215; MGI: 88457; HomoloGene: 55434; GeneCards: COL5A1; OMA:COL5A1 - orthologs
Gene location (Human)
Chr.	Chromosome 9 (human)
End	134,844,843 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	27,929,526 bp
RNA expression pattern
	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
	; ; ; ;
	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
	1289
	12831
	ENSG00000130635
	ENSMUSG00000026837
	P20908
	O88207
	NM_000093; NM_001278074
	NM_015734
	NP_000084; NP_001265003
	NP_056549
	Wikidata
View/Edit Human	View/Edit Mouse

Collagen alpha-1(V) chain is a protein that in humans is encoded by the COL5A1 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. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II.