collagen 5 alpha-1 (COL5A1)

Function

• type 5 collagen is a member of group 1 collagen (fibrillar forming collagen)
• it is a minor connective tissue component of nearly ubiquitous distribution
• type 5 collagen binds to DNA, heparan sulfate, thrombospondin, heparin, & insulin
• Pro at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains
• sulfated on 40% of Tyr
• trimers of two COL5A1 & one COL5A2 chains in most tissues
• trimers of one COL5A1, one COL5A2, & one COL5A3 in placenta
• interacts with CSPG4

Structure

• belongs to the fibrillar collagen family
• contains 1 fibrillar collagen NC1 domain
• contains 1 laminin G-like domain

Compartment

• secreted, extracellular space, extracellular matrix (putative)

Pathology

• defects in COL5A1 are a cause of
  • Ehlers-Danlos syndrome type 1
  • Ehlers-Danlos syndrome type 2

More general terms

• collagen subunit

Additional terms

• Ehlers-Danlos syndrome type I (severe form of classic Ehlers-Danlos)
• Ehlers-Danlos syndrome type II (mild classic form)

Component of

• collagen type-5

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1289
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1289
• OMIM: https://mirror.omim.org/entry/120215
• OMIM: https://mirror.omim.org/entry/130000
• OMIM: https://mirror.omim.org/entry/130010
• UniProt: http://www.uniprot.org/uniprot/P20908.html