Collagen, type VIII, alpha 1

COL8A1

Available structures

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

MGI: 88463 HomoloGene: 22423 GeneCards: COL8A1

Gene ontology
Molecular function	• protein binding
Cellular component	• extracellular matrix • proteinaceous extracellular matrix • basement membrane • collagen type VIII trimer • collagen trimer • endoplasmic reticulum lumen • extracellular exosome • extracellular region • extracellular space
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 NP_065084


NP_031765

Location (UCSC)

Chr 3: 99.64 – 99.8 Mb

Chr 16: 57.62 – 57.75 Mb

PubMed search

^[1]

^[2]

Wikidata

View/Edit Human

View/Edit Mouse

Collagen alpha-1(VIII) chain is a protein that in humans is encoded by the COL8A1 gene.^[3]^[4]

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.^[4]

References

↑ "Human PubMed Reference:".
↑ "Mouse PubMed Reference:".
↑ 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. PMID 2029894. doi:10.1111/j.1432-1033.1991.tb15951.x.
1 2 "Entrez Gene: COL8A1 collagen, type VIII, alpha 1".

Shuttleworth CA (1998). "Type VIII collagen.". Int. J. Biochem. Cell Biol. 29 (10): 1145–8. PMID 9438378. doi:10.1016/S1357-2725(97)00033-2.
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. doi:10.1016/S0021-9150(01)00766-3.
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. doi:10.1074/jbc.273.34.22091.
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. PMC 1850039 . PMID 10666376. doi:10.1016/s0002-9440(10)64751-7.
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. PMID 10823842. doi:10.1074/jbc.M910099199.
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. doi:10.1093/hmg/10.21.2415.
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. PMC 139241 . PMID 12477932. doi:10.1073/pnas.242603899.
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. doi:10.1016/S0945-053X(02)00119-1.
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. PMC 528928 . PMID 15489334. doi:10.1101/gr.2596504.
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. PMID 16189514. doi:10.1038/nature04209.
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. PMID 16713569. doi:10.1016/j.cell.2006.03.032.
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. PMID 16936088. doi:10.1167/iovs.05-1635.
Aldave AJ, Bourla N, Yellore VS, et al. (2007). "Keratoconus is not associated with mutations in COL8A1 and COL8A2.". Cornea. 26 (8): 963–5. PMID 17721297. doi:10.1097/ICO.0b013e31811dfaf7.

PDB gallery

1o91: CRYSTAL STRUCTURE OF A COLLAGEN VIII NC1 DOMAIN TRIMER

Protein: scleroproteins

Extracellular matrix

Collagen

Fibril forming	type I COL1A1 COL1A2 type II (COL2A1) type III type V COL5A1 COL5A2 COL5A3 COL24A1 COL26A1
Other	FACIT: type IX COL9A1 COL9A2 COL9A3 type XII (COL12A1) COL14A1 COL16A1 COL19A1 COL20A1 COL21A1 COL22A1 basement membrane: type IV COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6 multiplexin: COL15A1 type XVIII COL18A1 Endostatin transmembrane: COL13A1 COL17A1 COL23A1 COL25A1 other: type VI COL6A1 COL6A2 COL6A3 COL6A5 type VII (COL7A1) type VIII COL8A1 COL8A2 type X (COL10A1) type XI COL11A1 COL11A2 COL27A1 COL28A1
Enzymes	Prolyl hydroxylase/Lysyl hydroxylase Cartilage associated protein/Leprecan ADAMTS2 Procollagen peptidase Lysyl oxidase

Laminin

alpha
- LAMA1
- LAMA2
- LAMA3
- LAMA4
- LAMA5
beta
- LAMB1
- LAMB2
- LAMB3
- LAMB4
gamma
- LAMC1
- LAMC2
- LAMC3

Other

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Collagen, type VIII, alpha 1

References

Further reading