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, LGCR, LGS, 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.
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
Cellular Components
endoplasmic reticulum, endoplasmic reticulum membrane, extracellular space, Golgi apparatus, Golgi membrane, integral to endoplasmic reticulum membrane, integral to membrane, membrane
Literature References
- 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
- 10639137McCormick C, Duncan G, Goutsos KT, Tufaro F. The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate.Proc Natl Acad Sci U S A 2000 Jan 18;97(2):668-73
- 16189514Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M. Towards a proteome-scale map of the human protein-protein interaction network.Nature 2005 Oct 20;437(7062):1173-8 View 63 categorized literature findings and their references in IPA
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
Protein Domains
enzyme, glucuronosyl-N-acetylglucosaminyl-proteoglycan, glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase, N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase, protein binding
Subcellular Locations
cytoplasm, endoplasmic reticulum, endoplasmic reticulum membrane, Golgi apparatus, Golgi membranes
