COL8A1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCOL8A1, C3orf7, collagen type VIII alpha 1, collagen type VIII alpha 1 chain
External IDsOMIM: 120251 MGI: 88463 HomoloGene: 22423 GeneCards: COL8A1
Orthologs
SpeciesHumanMouse
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 MbChr 16: 57.44 – 57.58 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Collagen alpha-1(VIII) chain is a protein that in humans is encoded by the COL8A1 gene.[5][6]

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.[6]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000144810 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000068196 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 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.
  6. 1 2 "Entrez Gene: COL8A1 collagen, type VIII, alpha 1".

Further reading


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