EXT1 - exostoses (multiple) 1
Entrez Gene Name: exostoses (multiple) 1
Entrez GeneID: Human(2131)
, Mouse(14042), Rat(299907)
, Mouse(14042), Rat(299907) Synonyms: AA409028, Exostoses (multiple) 1, EXT, EXT1, Ext1 predicted, LGCR, LGS, TRPS2, ttv
Gene Summary
- Human (2131): This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq]
Molecular Functions | Biological Process | Cellular Components | Protein Domains | Subcellular Locations | Pathways | Literature References | IPA Extras
Cell Regulation
Biological Process
endoderm development, gastrulation, glycosaminoglycan biosynthetic process, heparan sulfate proteoglycan biosynthetic process, heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process, mesoderm development, negative regulation of cell cycle, ossification, signal transduction, skeletal system development
Cellular Components
endoplasmic reticulum, Golgi apparatus, Golgi membrane, integral to endoplasmic reticulum membrane, integral to membrane, intrinsic to endoplasmic reticulum membrane, membrane
Literature References
- 17554300Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.Nature 2007 06 7;447(7145):661-78
- 18024963Sasaki N, Okishio K, Ui-Tei K, Saigo K, Kinoshita-Toyoda A, Toyoda H, Nishimura T, Suda Y, Hayasaka M, Hanaoka K, Hitoshi S, Ikenaka K, Nishihara S. Heparan Sulfate Regulates Self-renewal and Pluripotency of Embryonic Stem Cells.J Biol Chem 2008 Feb 08;283(6):3594-606
- 17353931Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D. Large-scale mapping of human protein-protein interactions by mass spectrometry.Mol Syst Biol 2007 01 1;3:89
Molecular Functions
glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity, heparan sulfate N-acetylglucosaminyltransferase activity, N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity, protein binding, protein heterodimerization activity, protein homodimerization activity, transferase activity, transferase activity, transferring glycosyl groups, transferase activity, transferring hexosyl groups
Protein Domains
enzyme, glucuronosyl-N-acetylglucosaminyl-proteoglycan, glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase, N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase, protein binding, protein heterodimerization, protein homodimerization
Subcellular Locations
cytoplasm, endoplasmic reticulum, endoplasmic reticulum membrane, Golgi apparatus, Golgi membranes
