COL8A1

Collagen, type VIII, alpha 1

PDB rendering based on 1o91.

| Available structures

PDB |  Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB
| List of PDB id codes

1o91​

Identifiers
Symbols|  COL8A1 ; MGC9568
External IDs|  Template:OMIM5 Template:MGI HomoloGene: 22423
| Gene ontology

Molecular function | Template:GNF GO Template:GNF GO
Cellular component | Template:GNF GO Template:GNF GO Template:GNF GO
Biological process | Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species|  Human|  Mouse
Entrez|  n/a|  n/a
Ensembl|  n/a|  n/a
UniProt|  n/a|  n/a
RefSeq (mRNA)|  n/a|  n/a
RefSeq (protein)|  n/a|  n/a
Location (UCSC)|  n/a|  n/a
PubMed search|  n/a|  n/a

Collagen, type VIII, alpha 1, also known as COL8A1, is a human gene.[1]

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.[1]

## References[edit | edit source]

1. ↑ 1.0 1.1 "Entrez Gene: COL8A1 collagen, type VIII, alpha 1".

## Further reading[edit | edit source]

* Shuttleworth CA (1998). "Type VIII collagen". Int. J. Biochem. Cell Biol. 29 (10): 1145–8. 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. PMID 12482545.CS1 maint: Multiple names: authors list (link)
* Muragaki Y, Mattei MG, Yamaguchi N; et al. (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. PMID 2029894.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
* 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. PMID 9705353.CS1 maint: Multiple names: authors list (link)
* 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. PMID 10666376.CS1 maint: Multiple names: authors list (link)
* 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.CS1 maint: Multiple names: authors list (link)
* 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
* 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. PMID 11689488.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
* 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
* 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. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
* Kvansakul M, Bogin O, Hohenester E, Yayon A (2004). "Crystal structure of the collagen alpha1(VIII) NC1 trimer". Matrix Biol. 22 (2): 145–52. PMID 12782141.CS1 maint: Multiple names: authors list (link)
* 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. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
* 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
* 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
* 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
* 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)

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