collagen 11 alpha-1 (COL11A1, COLL6)

Function

• may play a role in fibrillogenesis by controlling lateral growth of collagen 2 fibrils
• Pro at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains
• trimers composed of three different chains: COL11A1, COL11A2, & COL11A3
• COL11A3 is a post-translational modification of COL2A1
• COL5A1 can also be found instead of COL11A3

Structure

• N-glycosylated (putative)
• belongs to the fibrillar collagen family
• contains 8 collagen-like domains
• contains 1 fibrillar collagen NC1 domain
• contains 1 laminin G-like domain

Compartment

• secreted, extracellular space, extracellular matrix (putative)

Alternative splicing

• named isoforms=3
• additional isoforms seem to exist

Expression

• expressed in cartilage, placenta & some tumor or virally transformed cell lines
• isoforms using exon IIA or IIB are found in cartilage while isoforms using only exon IIB are found in tendon

Pathology

• defects in COL11A1 are the cause of
  • Stickler syndrome type 2
  • Marshall syndrome
  • fibrochondrogenesis

More general terms

• collagen subunit
• glycoprotein

Additional terms

• Marshall syndrome
• Stickler syndrome or hereditary progressive arthroophthalmopathy

Component of

• collagen type-11

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1301
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1301
• OMIM: https://mirror.omim.org/entry/120280
• OMIM: https://mirror.omim.org/entry/154780
• OMIM: https://mirror.omim.org/entry/228520
• OMIM: https://mirror.omim.org/entry/604841
• UniProt: http://www.uniprot.org/uniprot/P12107.html