| This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008],alternative products:The final tissue form of collagen XII may contain homotrimers of either isoform 1 or isoform 2 or any combination of isoform 1 and isoform 2,function:Type XII collagen interacts with type I collagen-containing fibrils, the COL1 domain could be associated with the surface of the fibrils, and the COL2 and NC3 domains may be localized in the perifibrillar matrix.,PTM:Hydroxylation on proline residues within the sequence motif, GXPG, is most likely to be 4-hydroxy as this fits the requirement for 4-hydroxylation in vertebrates.,PTM:O-glycosylation of isoform 1, glycosaminoglycan of chondroitin-sulfate type.,PTM:The triple-helical tail is stabilized by disulfide bonds at each end.,similarity:Belongs to the fibril-associated collagens with interrupted helices (FACIT) family.,similarity:Contains 1 TSP N-terminal (TSPN) domain.,similarity:Contains 18 fibronectin type-III domains.,similarity:Contains 4 VWFA domains.,subunit:Trimer of identical chains each containing 190 kDa of non-triple-helical sequences.,tissue specificity:Found in collagen I-containing tissues: both isoform 1 and isoform 2 appear in amnion, chorion, skeletal muscle, small intestine, and in cell culture of dermal fibroblasts, keratinocytes and endothelial cells. Only isoform 2 is found in lung, placenta, kidney and a squamous cell carcinoma cell line. Isoform 1 is also present in the corneal epithelial Bowmans membrane (BM) and the interfibrillar matrix of the corneal stroma, but it is not detected in the limbal BM., |
