Collagen, type VIII, alpha 1

From Wikipedia, the free encyclopedia
Jump to: navigation, search
COL8A1
Protein COL8A1 PDB 1o91.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases COL8A1, C3orf7, collagen type VIII alpha 1
External IDs MGI: 88463 HomoloGene: 22423 GeneCards: COL8A1
Genetically Related Diseases
age related macular degeneration[1]
RNA expression pattern
PBB GE COL8A1 221152 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001850
NM_020351

NM_007739

RefSeq (protein)

NP_001841
NP_065084

NP_031765.2
NP_031765

Location (UCSC) Chr 3: 99.64 – 99.8 Mb Chr 16: 57.62 – 57.75 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Collagen alpha-1(VIII) chain is a protein that in humans is encoded by the COL8A1 gene.[4][5]

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.[5]

References[edit]

  1. ^ "Diseases that are genetically associated with COL8A1 view/edit references on wikidata". 
  2. ^ "Human PubMed Reference:". 
  3. ^ "Mouse PubMed Reference:". 
  4. ^ 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. 
  5. ^ a b "Entrez Gene: COL8A1 collagen, type VIII, alpha 1". 

Further reading[edit]