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EXT1 - exostosin 1

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Entrez Gene Name: exostosin 1
Entrez GeneID: Human(2131), Mouse(14042), Rat(299907)
Synonyms: AA409028, Exostoses (multiple) 1, EXT, EXT1, 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

Regulates:
  • heparan sulfate proteoglycan
  • glycosaminoglycan
  • heparan sulfate
View all 5 in IPA
Regulated by:
  • TNF
  • Estrogen receptor
  • Immunoglobulin
View all 9 in IPA
Binds:
  • miR-1302
  • miR-587
  • miR-944
View all 20 in IPA
Role in cell:
  • guidance
  • ossification by
  • pathfinding
View all 6 in IPA
Disease:
  • non-insulin-dependent diabetes mellitus
  • Alzheimer's disease
  • coronary artery disease
View all 7 in IPA

Biological Process

axon guidance, brain development, cellular polysaccharide biosynthetic process, endoderm development, gastrulation, glycosaminoglycan biosynthetic process, heparan sulfate proteoglycan biosynthetic process, heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process, mesoderm development, metabolic process, olfactory bulb development, ossification, signal transduction, skeletal system development

Cellular Components

endoplasmic reticulum, endoplasmic reticulum membrane, 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
  • 14605369Inatani M, Irie F, Plump AS, Tessier-Lavigne M, Yamaguchi Y. Mammalian brain morphogenesis and midline axon guidance require heparan sulfate.Science 2003 11 7;302(5647):1044-6
View 94 categorized literature findings and their references in IPA

Molecular Functions

acetylglucosaminyltransferase activity, glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity, glucuronosyltransferase 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

Pathways

No Data Available

Protein Domains

acetylglucosaminyltransferase, enzyme, Exostosin family, glucuronosyl-N-acetylglucosaminyl-proteoglycan, glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase, glucuronosyltransferase, Glycosyl transferase family 64 domain, N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase, protein binding, protein heterodimerization, protein homodimerization

Subcellular Locations

Cytoplasm, endoplasmic reticulum, endoplasmic reticulum membrane, Golgi apparatus, Golgi membranes

IPA Extras