collagen 12 alpha-1 (COL12A1)

Function

• type 12 collagen interacts with type 1 collagen- containing fibrils
• the COL1 domain could be associated with the surface of the fibrils, & the COL2 & NC3 domains may be localized in the perifibrillar matrix (putative)
• the triple-helical tail is stabilized by disulfide bonds at each end (putative)
• hydroxylation on Pro within the sequence motif, GXPG, is most likely to be 4-hydroxy as this fits the requirement for 4-hydroxylation in vertebrates (putative)
• isoform 1 O-glycosylation; glycosaminoglycan of chondroitin- sulfate type (putative)
• trimer of identical chains each containing 190 kD of non-triple-helical sequences

Structure

• belongs to the fibril-associated collagens with interrupted helices (FACIT) family
• contains 18 fibronectin F3 modules
• contains 1 TSP N-terminal (TSPN) domain
• contains 4 VWFA domains

Compartment

• secreted, extracellular space, extracellular matrix (putative)

Alternative splicing

named isoforms=3

Expression

• found in collagen 1-containing tissues
• both isoform 1 & isoform 2 appear in
  • amnion
  • chorion
  • skeletal muscle
  • small intestine
  • cell culture of
    • dermal fibroblasts
    • keratinocytes
    • endothelial cells
• only isoform 2 is found in lung, placenta, kidney & a squamous cell carcinoma cell line
• isoform 1 is also present in the corneal epithelial Bowman's membrane & the interfibrillar matrix of the corneal stroma

More general terms

• collagen subunit
• glycoprotein

Component of

• collagen type-12

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1303
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1303
• OMIM: https://mirror.omim.org/entry/120320
• UniProt: http://www.uniprot.org/uniprot/Q99715.html