EXT1

EXT1
Identifiers
Aliases	EXT1, EXT, LGCR, LGS, TRPS2, TTV, exostosin glycosyltransferase 1
External IDs	OMIM: 608177 MGI: 894663 HomoloGene: 30957 GeneCards: EXT1
Gene location (Human)
Chr.	Chromosome 8 (human)[1]
End	118,111,853 bp[1]
RNA expression pattern
	; ;
	More reference expression data
Gene ontology
Molecular function	• transferase activity; • heparan sulfate N-acetylglucosaminyltransferase activity; • acetylglucosaminyltransferase activity; • protein homodimerization activity; • transferase activity, transferring glycosyl groups; • 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
	2131
	14042
	ENSG00000182197
	n/a
	Q16394
	P97464
	NM_000127
	NM_010162
	NP_000118
	NP_034292
	Wikidata
View/Edit Human	View/Edit Mouse

Exostosin-1 is a protein that in humans is encoded by the EXT1 gene.[4]

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.[4]

Interactions

EXT1 has been shown to interact with TRAP1.[5]

References

GRCh38: Ensembl release 89: ENSG00000182197 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Entrez Gene: EXT1 exostoses (multiple) 1".
Simmons, A D; Musy M M; Lopes C S; Hwang L Y; Yang Y P; Lovett M (Nov 1999). "A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses". Hum. Mol. Genet. ENGLAND. 8 (12): 2155–64. doi:10.1093/hmg/8.12.2155. ISSN 0964-6906. PMID 10545594.

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.
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.
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.
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.
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

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000182197 - Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-4] "Entrez Gene: EXT1 exostoses (multiple) 1".

[pmid10545594-5] Simmons, A D; Musy M M; Lopes C S; Hwang L Y; Yang Y P; Lovett M (Nov 1999). "A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses". Hum. Mol. Genet. ENGLAND. 8 (12): 2155–64. doi:10.1093/hmg/8.12.2155. ISSN 0964-6906. PMID 10545594.

EXT1

Interactions

See also

References

Further reading

External links