Collagen, type IV, alpha 1

COL4A1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1LI1
Identifiers
Aliases	COL4A1, HANAC, ICH, POREN1, arresten, BSVD, RATOR, collagen type IV alpha 1, collagen type IV alpha 1 chain, BSVD1, PADMAL, COL4A1s
External IDs	OMIM: 120130; MGI: 88454; HomoloGene: 20437; GeneCards: COL4A1; OMA:COL4A1 - orthologs
Gene location (Human)
Chr.	Chromosome 13 (human)
End	110,307,157 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	11,362,826 bp
RNA expression pattern
	Top expressed in
	visceral pleura; ; placenta; ; right coronary artery; ; decidua; ; stromal cell of endometrium; ; left coronary artery; ; epithelium of colon; ; popliteal artery; ; tibial arteries; ; abdominal fat;
	Top expressed in
	epithelium of lens; ; left lung lobe; ; ascending aorta; ; umbilical cord; ; endothelial cell of lymphatic vessel; ; sciatic nerve; ; internal carotid artery; ; aortic valve; ; external carotid artery; ; vas deferens;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	extracellular matrix constituent conferring elasticity; extracellular matrix structural constituent; protein binding; platelet-derived growth factor binding; extracellular matrix structural constituent conferring tensile strength;
Cellular component	collagen; endoplasmic reticulum lumen; extracellular matrix; collagen type IV trimer; extracellular region; basement membrane; extracellular space; collagen-containing extracellular matrix;
Biological process	renal tubule morphogenesis; epithelial cell differentiation; blood vessel morphogenesis; extracellular matrix organization; brain development; neuromuscular junction development; angiogenesis; retinal blood vessel morphogenesis; basement membrane organization; branching involved in blood vessel morphogenesis; collagen catabolic process; cellular response to amino acid stimulus; collagen-activated tyrosine kinase receptor signaling pathway;
	Sources:Amigo / QuickGO
Orthologs
	1282
	12826
	ENSG00000187498
	ENSMUSG00000031502
	P02462
	P02463
	NM_001845; NM_001303110
	NM_009931
	NP_001290039; NP_001836
	NP_034061
	Wikidata
View/Edit Human	View/Edit Mouse

Collagen alpha-1(IV) chain (COL4A1) is a protein that in humans is encoded by the COL4A1 gene on chromosome 13. It is ubiquitously expressed in many tissues and cell types. COL4A1 is a subunit of the type IV collagen and plays a role in angiogenesis. Mutations in the gene have been linked to diseases of the brain, muscle, kidney, eye, and cardiovascular system. The COL4A1 gene also contains one of 27 SNPs associated with increased risk of coronary artery disease.