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
External IDs	MGI: 88454 HomoloGene: 20437 GeneCards: COL4A1
Gene location (Human) Chr. Chromosome 13 (human) Band 13q34 Start 110,148,963 bp End 110,307,149 bp
Gene location (Mouse) Chr. Chromosome 8 (mouse) Band 8 A1.1|8 5.53 cM Start 11,198,423 bp End 11,312,826 bp
RNA expression pattern More reference expression data
Gene ontology Molecular function • extracellular matrix constituent conferring elasticity • extracellular matrix structural constituent • protein binding • platelet-derived growth factor binding Cellular component • collagen trimer • endoplasmic reticulum lumen • extracellular matrix • proteinaceous extracellular matrix • collagen type IV trimer • extracellular region • basement membrane • extracellular space 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
Species	Human	Mouse
Entrez	1282	12826
Ensembl	ENSG00000187498	ENSMUSG00000031502
UniProt	P02462	P02463
RefSeq (mRNA)	NM_001845 NM_001303110	NM_009931
RefSeq (protein)	NP_001290039 NP_001836	NP_034061
Location (UCSC)	Chr 13: 110.15 – 110.31 Mb	Chr 8: 11.2 – 11.31 Mb
PubMed search

1LI1

1282

12826

ENSG00000187498

ENSMUSG00000031502

P02462

P02463

NM_001845
NM_001303110

NM_009931

NP_001290039
NP_001836

NP_034061

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.

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Wikipedia