Collagen, type VIII, alpha 1

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COL8A1
Protein COL8A1 PDB 1o91.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCOL8A1, C3orf7, collagen type VIII alpha 1, collagen type VIII alpha 1 chain
External IDsMGI: 88463 HomoloGene: 22423 GeneCards: COL8A1
Gene location (Human)
Chromosome 3 (human)
Chr.Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for COL8A1
Genomic location for COL8A1
Band3q12.1Start99,638,475 bp[1]
End99,799,226 bp[1]
RNA expression pattern
PBB GE COL8A1 221152 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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: 57.62 – 57.75 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[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000144810 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000068196 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  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. ^ a b "Entrez Gene: COL8A1 collagen, type VIII, alpha 1".

Further reading[edit]