collagen 6 alpha-3 (COL6A3)

Function

• collagen 6 acts as a cell-binding protein
• Pro at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains the N-terminus is blocked
• trimers composed of three different chains: COL6A1, COL6A2, & COL6A3 or COL6A5 or COL6A6

Structure

• belongs to the type 6 collagen family
• contains 1 BPTI/Kunitz inhibitor domain
• contains 5 collagen-like domains
• contains 1 fibronectin F3 module
• contains 12 VWFA domains

Compartment

• secreted, extracellular space, extracellular matrix (putative)

Alternative splicing

named isoforms=2

Pathology

• defects in COL6A3 are a cause of
  • Bethlem myopathy
  • Ullrich congenital muscular dystrophy

More general terms

• collagen subunit
• glycoprotein

Component of

• collagen type-6

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1293
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1293
• OMIM: https://mirror.omim.org/entry/120250
• OMIM: https://mirror.omim.org/entry/158810
• OMIM: https://mirror.omim.org/entry/254090
• UniProt: http://www.uniprot.org/uniprot/P12111.html