EXT1

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Exostosin-1 is a protein that in humans is encoded by the EXT1 gene.

EXT1
Identifiers
Aliases	EXT1, EXT, LGCR, LGS, TRPS2, TTV, exostosin glycosyltransferase 1
External IDs	OMIM: 608177; MGI: 894663; HomoloGene: 30957; GeneCards: EXT1; OMA:EXT1 - orthologs
Gene location (Human) Chr. Chromosome 8 (human) Band 8q24.11 Start 117,794,490 bp End 118,111,826 bp
Gene location (Mouse) Chr. Chromosome 15 (mouse) Band 15 C|15 20.0 cM Start 52,927,434 bp End 53,209,555 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in stromal cell of endometrium saphenous vein Descending thoracic aorta ascending aorta right coronary artery jejunal mucosa ventricular zone popliteal artery tibial arteries duodenum Top expressed in tail of embryo cumulus cell secondary oocyte genital tubercle efferent ductule external carotid artery zygote ascending aorta epithelium of lens internal carotid artery More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity heparan sulfate N-acetylglucosaminyltransferase activity acetylglucosaminyltransferase activity protein homodimerization activity glycosyltransferase activity N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity glucuronosyltransferase activity glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity metal ion binding protein heterodimerization activity Cellular component integral component of membrane Golgi apparatus endoplasmic reticulum membrane membrane Golgi membrane integral component of endoplasmic reticulum membrane endoplasmic reticulum Biological process skeletal system development heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process endoderm development embryonic skeletal joint development ossification heparan sulfate proteoglycan biosynthetic process axon guidance protein glycosylation brain development gastrulation olfactory bulb development mesoderm development cellular polysaccharide biosynthetic process signal transduction glycosaminoglycan biosynthetic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2131 14042 Ensembl ENSG00000182197 ENSMUSG00000061731 UniProt Q16394 P97464 RefSeq (mRNA) NM_000127 NM_010162 RefSeq (protein) NP_000118 NP_034292 Location (UCSC) Chr 8: 117.79 – 118.11 Mb Chr 15: 52.93 – 53.21 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

This gene encodes one of the two endoplasmic reticulum-resident type II transmembrane glycosyltransferase – the other being EXT2 – which are involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses.

Interactions

EXT1 has been shown to interact with TRAP1.

See also

• Langer–Giedion syndrome
• Hereditary multiple exostoses type 1

Further reading

• Wuyts W, Van Hul W (2000). "Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes". Hum. Mutat. 15 (3): 220–7. doi:10.1002/(SICI)1098-1004(200003)15:3<220::AID-HUMU2>3.0.CO;2-K. PMID 10679937. S2CID 45999816.
• Duncan G, McCormick C, Tufaro F (2001). "The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins". J. Clin. Invest. 108 (4): 511–6. doi:10.1172/JCI13737. PMC 209410. PMID 11518722.
• Ogle RF, Dalzell P, Turner G, et al. (1992). "Multiple exostoses in a patient with t(8;11)(q24.11;p15.5)". J. Med. Genet. 28 (12): 881–3. doi:10.1136/jmg.28.12.881. PMC 1017169. PMID 1757967.
• Ahn J, Lüdecke HJ, Lindow S, et al. (1995). "Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)". Nat. Genet. 11 (2): 137–43. doi:10.1038/ng1095-137. PMID 7550340. S2CID 39272385.
• Cook A, Raskind W, Blanton SH, et al. (1993). "Genetic heterogeneity in families with hereditary multiple exostoses". Am. J. Hum. Genet. 53 (1): 71–9. PMC 1682231. PMID 8317501.
• Hou J, Parrish J, Lüdecke HJ, et al. (1996). "A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1)". Genomics. 29 (1): 87–97. doi:10.1006/geno.1995.1218. PMID 8530105.
• Hecht JT, Hogue D, Wang Y, et al. (1997). "Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies". Am. J. Hum. Genet. 60 (1): 80–6. PMC 1712567. PMID 8981950.
• Lüdecke HJ, Ahn J, Lin X, et al. (1997). "Genomic organization and promoter structure of the human EXT1 gene". Genomics. 40 (2): 351–4. doi:10.1006/geno.1996.4577. PMID 9119404.
• Philippe C, Porter DE, Emerton ME, et al. (1997). "Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses". Am. J. Hum. Genet. 61 (3): 520–8. doi:10.1086/515505. PMC 1715939. PMID 9326317.
• Wuyts W, Van Hul W, De Boulle K, et al. (1998). "Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses". Am. J. Hum. Genet. 62 (2): 346–54. doi:10.1086/301726. PMC 1376901. PMID 9463333.
• Raskind WH, Conrad EU, Matsushita M, et al. (1998). "Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses". Hum. Mutat. 11 (3): 231–9. doi:10.1002/(SICI)1098-1004(1998)11:3<231::AID-HUMU8>3.0.CO;2-K. PMID 9521425. S2CID 20194422.
• McCormick C, Leduc Y, Martindale D, et al. (1998). "The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate". Nat. Genet. 19 (2): 158–61. doi:10.1038/514. PMID 9620772. S2CID 25832441.
• Lin X, Gan L, Klein WH, Wells D (1998). "Expression and functional analysis of mouse EXT1, a homolog of the human multiple exostoses type 1 gene". Biochem. Biophys. Res. Commun. 248 (3): 738–43. doi:10.1006/bbrc.1998.9050. PMID 9703997.
• Lind T, Tufaro F, McCormick C, et al. (1998). "The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate". J. Biol. Chem. 273 (41): 26265–8. doi:10.1074/jbc.273.41.26265. PMID 9756849.
• Bovée JV, Cleton-Jansen AM, Wuyts W, et al. (1999). "EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas". Am. J. Hum. Genet. 65 (3): 689–98. doi:10.1086/302532. PMC 1377975. PMID 10441575.
• Xu L, Xia J, Jiang H, et al. (1999). "Mutation analysis of hereditary multiple exostoses in the Chinese". Hum. Genet. 105 (1–2): 45–50. doi:10.1007/s004390051062. PMID 10480354.
• Simmons AD, Musy MM, Lopes CS, et al. (1999). "A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses". Hum. Mol. Genet. 8 (12): 2155–64. doi:10.1093/hmg/8.12.2155. PMID 10545594.
• McCormick C, Duncan G, Goutsos KT, Tufaro F (2000). "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. 97 (2): 668–73. Bibcode:2000PNAS...97..668M. doi:10.1073/pnas.97.2.668. PMC 15388. PMID 10639137.
• Kobayashi S, Morimoto K, Shimizu T, et al. (2000). "Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus". Biochem. Biophys. Res. Commun. 268 (3): 860–7. doi:10.1006/bbrc.2000.2219. PMID 10679296.

External links

• Multiple Hereditary Exostoses Research Foundation