Collagen, type VIII, alpha 1

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

COL8A1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1O91
Identifiers
Aliases	COL8A1, C3orf7, collagen type VIII alpha 1, collagen type VIII alpha 1 chain
External IDs	OMIM: 120251; MGI: 88463; HomoloGene: 22423; GeneCards: COL8A1; OMA:COL8A1 - orthologs
Gene location (Human) Chr. Chromosome 3 (human) Band 3q12.1 Start 99,638,475 bp End 99,799,226 bp
Gene location (Mouse) Chr. Chromosome 16 (mouse) Band 16|16 C1.1 Start 57,444,621 bp End 57,575,100 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in visceral pleura retinal pigment epithelium right coronary artery popliteal artery tibial arteries sural nerve parietal pleura germinal epithelium thoracic aorta ascending aorta Top expressed in pineal gland retinal pigment epithelium calvaria vestibular membrane of cochlear duct Epithelium of choroid plexus choroid plexus of fourth ventricle skin of external ear body of femur stroma of bone marrow vestibular sensory epithelium More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding extracellular matrix structural constituent extracellular matrix structural constituent conferring tensile strength Cellular component extracellular matrix basement membrane collagen type VIII trimer collagen endoplasmic reticulum lumen extracellular exosome extracellular region extracellular space collagen-containing extracellular matrix 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
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 NP_065084 NP_031765 Location (UCSC) Chr 3: 99.64 – 99.8 Mb Chr 16: 57.44 – 57.58 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

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.

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. Bibcode:2002PNAS...9916899M. 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. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
• 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. S2CID 13709685.
• 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. S2CID 7750546.