Collagen, type VIII, alpha 1

COL8A1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1O91
Identifiers
Aliases	COL8A1, C3orf7, collagen type VIII alpha 1
External IDs	MGI: 88463 HomoloGene: 22423 GeneCards: COL8A1
Genetically Related Diseases
age related macular degeneration[1]
Gene ontology Molecular function • protein binding Cellular component • extracellular matrix • proteinaceous extracellular matrix • basement membrane • collagen type VIII trimer • collagen trimer • endoplasmic reticulum lumen • intracellular membrane-bounded organelle • extracellular exosome • extracellular region Biological process • collagen catabolic process • cell adhesion • extracellular matrix organization • epithelial cell proliferation • endodermal cell differentiation • camera-type eye morphogenesis • angiogenesis • positive regulation of cell-substrate adhesion Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	1295	12837
Ensembl	ENSG00000144810	ENSMUSG00000068196
UniProt	P27658	Q00780
RefSeq (mRNA)	NM_001850 NM_020351	NM_007739
RefSeq (protein)	NP_001841.2 NP_065084.2	NP_031765.2
Location (UCSC)	Chr 3: 99.64 – 99.8 Mb	Chr 16: 57.62 – 57.75 Mb
PubMed search	[2]	[3]
Wikidata

View/Edit Human

View/Edit Mouse

Collagen alpha-1(VIII) chain is a protein that in humans is encoded by the COL8A1 gene.^[4][5]

This gene encodes one of the two alpha chains of type VIII collagen. The gene product is a short chain collagen and a major component of the basement membrane of the corneal endothelium. The type VIII collagen fibril can be either a homo- or a heterotrimer. Alternatively spliced transcript variants encoding the same isoform have been observed.^[5]

References

1. "Diseases that are genetically associated with COL8A1 view/edit references on wikidata".
2. "Human PubMed Reference:".
3. "Mouse PubMed Reference:".
4. Muragaki Y, Mattei MG, Yamaguchi N, Olsen BR, Ninomiya Y (Jun 1991). "The complete primary structure of the human alpha 1 (VIII) chain and assignment of its gene (COL8A1) to chromosome 3". Eur J Biochem. 197 (3): 615–22. doi:10.1111/j.1432-1033.1991.tb15951.x. PMID 2029894.
5. "Entrez Gene: COL8A1 collagen, type VIII, alpha 1".

Further reading

• Shuttleworth CA (1998). "Type VIII collagen.". Int. J. Biochem. Cell Biol. 29 (10): 1145–8. doi:10.1016/S1357-2725(97)00033-2. PMID 9438378.
• Plenz GA, Deng MC, Robenek H, Völker W (2003). "Vascular collagens: spotlight on the role of type VIII collagen in atherogenesis.". Atherosclerosis. 166 (1): 1–11. doi:10.1016/S0021-9150(01)00766-3. PMID 12482545.
• Illidge C, Kielty C, Shuttleworth A (1998). "The alpha1(VIII) and alpha2(VIII) chains of type VIII collagen can form stable homotrimeric molecules.". J. Biol. Chem. 273 (34): 22091–5. doi:10.1074/jbc.273.34.22091. PMID 9705353.
• Hou G, Mulholland D, Gronska MA, Bendeck MP (2000). "Type VIII collagen stimulates smooth muscle cell migration and matrix metalloproteinase synthesis after arterial injury.". Am. J. Pathol. 156 (2): 467–76. doi:10.1016/s0002-9440(10)64751-7. PMC 1850039. PMID 10666376.
• Leung EW, Rife L, Smith RE, Kay EP (2000). "Extracellular matrix components in retrocorneal fibrous membrane in comparison to corneal endothelium and Descemet's membrane.". Mol. Vis. 6: 15–23. PMID 10731515.
• de Vries CJ, van Achterberg TA, Horrevoets AJ, et al. (2000). "Differential display identification of 40 genes with altered expression in activated human smooth muscle cells. Local expression in atherosclerotic lesions of smags, smooth muscle activation-specific genes.". J. Biol. Chem. 275 (31): 23939–47. doi:10.1074/jbc.M910099199. PMID 10823842.
• Biswas S, Munier FL, Yardley J, et al. (2002). "Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.". Hum. Mol. Genet. 10 (21): 2415–23. doi:10.1093/hmg/10.21.2415. PMID 11689488.
• Wistow G, Bernstein SL, Wyatt MK, et al. (2002). "Expressed sequence tag analysis of human RPE/choroid for the NEIBank Project: over 6000 non-redundant transcripts, novel genes and splice variants.". Mol. Vis. 8: 205–20. PMID 12107410.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Kvansakul M, Bogin O, Hohenester E, Yayon A (2004). "Crystal structure of the collagen alpha1(VIII) NC1 trimer.". Matrix Biol. 22 (2): 145–52. doi:10.1016/S0945-053X(02)00119-1. PMID 12782141.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network.". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
• Lim J, Hao T, Shaw C, et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.". Cell. 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569.
• Aldave AJ, Rayner SA, Salem AK, et al. (2006). "No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy.". Invest. Ophthalmol. Vis. Sci. 47 (9): 3787–90. doi:10.1167/iovs.05-1635. PMID 16936088.
• Aldave AJ, Bourla N, Yellore VS, et al. (2007). "Keratoconus is not associated with mutations in COL8A1 and COL8A2.". Cornea. 26 (8): 963–5. doi:10.1097/ICO.0b013e31811dfaf7. PMID 17721297.