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

General

collagen subunit glycoprotein

Properties

SIZE: entity length = 3063 aa MW = 333 kD MOTIF: signal sequence {1-24} fibronectin type III domain or F3 module {25-112} VWFA domain {140-316} fibronectin type III domain or F3 module {333-422} VWFA domain {440-616} fibronectin type III domain or F3 module {631-719} MOTIF: N-glycosylation site {N700} fibronectin type III domain or F3 module {722-810} MOTIF: Ser glycosylation site {S798} fibronectin type III domain or F3 module {813-901} MOTIF: Cell attachment {862-864} Ser glycosylation site {S889} fibronectin type III domain or F3 module {904-993} MOTIF: Ser glycosylation site {S981} fibronectin type III domain or F3 module {995-1083} fibronectin type III domain or F3 module {1086-1175} VWFA domain {1199-1371} fibronectin type III domain or F3 module {1384-1472} fibronectin type III domain or F3 module {1474-1563} fibronectin type III domain or F3 module {1565-1652} fibronectin type III domain or F3 module {1654-1743} fibronectin type III domain or F3 module {1752-1841} MOTIF: N-glycosylation site {N1763} fibronectin type III domain or F3 module {1843-1931} fibronectin type III domain or F3 module {1933-2022} fibronectin type III domain or F3 module {2024-2113} fibronectin type III domain or F3 module {2115-2202} fibronectin type III domain or F3 module {2206-2290} MOTIF: N-glycosylation site {N2206} VWFA domain {2323-2496} Nonhelical region (NC3) {2451-2746} MOTIF: TSP N-terminal {2520-2712} N-glycosylation site {N2528} N-glycosylation site {N2679} Triple-helical region (COL2) with 1 imperfection {2747-2898} MOTIF: Cell attachment {2779-2781} Cell attachment {2895-2897} Nonhelical region (NC2) {2899-2941} Triple-helical region {2942-3044} Nonhelical region (NC1) {3045-3063}

Database Correlations

OMIM 120320 UniProt Q99715 PFAM correlations Entrez Gene 1303 Kegg hsa:1303