collagen 18 alpha-1; contains: endostatin (COL18A1)

Function

• COLA18A probably plays a role in determining retinal structure as well as in the closure of the neural tube
• cleaved to form endostatin, a potent inhibitor of endothelial cell proliferation & angiogenesis
• Pro at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains

Structure

• belongs to the multiplexin collagen family
• contains 1 FZ (frizzled) domain
• contains 1 TSP N-terminal (TSPN) domain

Compartment

• secreted, extracellular space, extracellular matrix (putative)

Alternative splicing

named isoforms=3

Alternative promoter usage

• isoforms produced by alternative promoter usage

Expression

• present in multiple organs with highest levels in liver, lung & kidney

Pathology

• defects in COL18A1 are a cause of Knobloch syndrome type 1

Polymorphism

• association between polymorphism in position 1675 & prostate cancer
  • heterozygous Asn-1675 individuals have a 2.5-fold risk of prostate cancer compared with homozygous Asp-1675 individuals

More general terms

• collagen subunit
• glycoprotein

Additional terms

• endostatin

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=80781
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:80781
• OMIM: https://mirror.omim.org/entry/120328
• OMIM: https://mirror.omim.org/entry/267750
• UniProt: http://www.uniprot.org/uniprot/P39060.html