COL8A1

From Wikipedia, the free encyclopedia

Collagen, type VIII, alpha 1

PDB rendering based on 1o91.

Available structures: 1o91

Identifiers

Symbol(s)

COL8A1; MGC9568

External IDs

OMIM: 120251 MGI: 88463 HomoloGene: 22423

Gene ontology
Molecular Function:	• structural molecule activity • protein binding
Cellular Component:	• proteinaceous extracellular matrix • collagen type VIII • cytoplasm
Biological Process:	• phosphate transport • cell adhesion • epithelial cell proliferation

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_001850 (mRNA)
NP_001841 (protein)

XM_001001970 (mRNA)
XP_001001970 (protein)

Location

Chr 3: 100.84 - 101 Mb

Chr 16: 57.55 - 57.68 Mb

Pubmed search

[1]

[2]

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]

[edit] References

^ ^a ^b Entrez Gene: COL8A1 collagen, type VIII, alpha 1.

[edit] Further reading

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.
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.
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.
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.
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. 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. 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. 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. 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.