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; ; belly 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.^[5]^[6] It is ubiquitously expressed in many tissues and cell types.^[7] COL4A1 is a subunit of the type IV collagen and plays a role in angiogenesis.^[8] Mutations in the gene have been linked to diseases of the brain, muscle, kidney, eye, and cardiovascular system.^[9]^[10]^[11]^[12] The COL4A1 gene also contains one of 27 SNPs associated with increased risk of coronary artery disease.^[13]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000187498 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000031502 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Soininen R, Haka-Risku T, Prockop DJ, Tryggvason K (December 1987). "Complete primary structure of the alpha 1-chain of human basement membrane (type IV) collagen". FEBS Letters. 225 (1–2): 188–94. doi:10.1016/0014-5793(87)81155-9. PMID 3691802.
^ "Entrez Gene: COL4A1 collagen, type IV, alpha 1".
^ "BioGPS - your Gene Portal System". biogps.org. Retrieved 2016-10-11.
^ Peng, Guicheng; Lin, Maohuan; Zhang, Kun; Chen, Jie; Wang, Yifang; Yang, Yu; Wang, Jingfeng; Huang, Hui (2013-06-19). "Hemoglobin A1c Can Identify More Cardiovascular and Metabolic Risk Profile in OGTT-Negative Chinese Population". International Journal of Medical Sciences. 10 (8): 1028–1034. doi:10.7150/ijms.5905. ISSN 1449-1907. PMC 3691802. PMID 23801890.
^ Cite error: The named reference Peng_2013 was invoked but never defined (see the help page).
^ Cite error: The named reference Peissel_1995 was invoked but never defined (see the help page).
^ Cite error: The named reference Xia_2014 was invoked but never defined (see the help page).
^ Cite error: The named reference Turner_2015 was invoked but never defined (see the help page).
^ Cite error: The named reference :0 was invoked but never defined (see the help page).

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000187498 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000031502 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[Soininen_1987-5] Soininen R, Haka-Risku T, Prockop DJ, Tryggvason K (December 1987). "Complete primary structure of the alpha 1-chain of human basement membrane (type IV) collagen". FEBS Letters. 225 (1–2): 188–94. doi:10.1016/0014-5793(87)81155-9. PMID 3691802.

[entrez-6] "Entrez Gene: COL4A1 collagen, type IV, alpha 1".

[7] "BioGPS - your Gene Portal System". biogps.org. Retrieved 2016-10-11.

[8] Peng, Guicheng; Lin, Maohuan; Zhang, Kun; Chen, Jie; Wang, Yifang; Yang, Yu; Wang, Jingfeng; Huang, Hui (2013-06-19). "Hemoglobin A1c Can Identify More Cardiovascular and Metabolic Risk Profile in OGTT-Negative Chinese Population". International Journal of Medical Sciences. 10 (8): 1028–1034. doi:10.7150/ijms.5905. ISSN 1449-1907. PMC 3691802. PMID 23801890.

[Peng_2013-9] Cite error: The named reference Peng_2013 was invoked but never defined (see the help page).

[Peissel_1995-10] Cite error: The named reference Peissel_1995 was invoked but never defined (see the help page).

[Xia_2014-11] Cite error: The named reference Xia_2014 was invoked but never defined (see the help page).

[Turner_2015-12] Cite error: The named reference Turner_2015 was invoked but never defined (see the help page).

[:0-13] Cite error: The named reference :0 was invoked but never defined (see the help page).

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