EXT1

{{Short description|Protein-coding gene in the species Homo sapiens}}

{{For2|the filesystem|Extended file system|the algebraic concept|Ext functor}}

Exostosin-1 is a protein that in humans is encoded by the EXT1 gene.{{cite web | title = Entrez Gene: EXT1 exostoses (multiple) 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2131}}

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.{{cite journal |doi=10.1093/hmg/8.12.2155 |last=Simmons |first=A D |author2=Musy M M|author3=Lopes C S|author4=Hwang L Y|author5=Yang Y P|author6=Lovett M |date=Nov 1999 |title=A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses |journal=Hum. Mol. Genet. |volume=8 |issue=12 |pages=2155–64 |location = ENGLAND| issn = 0964-6906| pmid = 10545594 |doi-access=free }}

References

{{cite journal | vauthors=Wuyts W, Van Hul W |title=Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. |journal=Hum. Mutat. |volume=15 |issue= 3 |pages= 220–7 |year= 2000 |pmid= 10679937 |doi= 10.1002/(SICI)1098-1004(200003)15:3<220::AID-HUMU2>3.0.CO;2-K |s2cid=45999816 }}
{{cite journal | vauthors=Duncan G, McCormick C, Tufaro F |title=The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins. |journal=J. Clin. Invest. |volume=108 |issue= 4 |pages= 511–6 |year= 2001 |pmid= 11518722 |doi=10.1172/JCI13737 | pmc=209410 }}
{{cite journal | vauthors=Ogle RF, Dalzell P, Turner G |title=Multiple exostoses in a patient with t(8;11)(q24.11;p15.5). |journal=J. Med. Genet. |volume=28 |issue= 12 |pages= 881–3 |year= 1992 |pmid= 1757967 |doi=10.1136/jmg.28.12.881 | pmc=1017169 |display-authors=etal}}
{{cite journal | vauthors=Ahn J, Lüdecke HJ, Lindow S |title=Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). |journal=Nat. Genet. |volume=11 |issue= 2 |pages= 137–43 |year= 1995 |pmid= 7550340 |doi= 10.1038/ng1095-137 |s2cid=39272385 |display-authors=etal}}
{{cite journal | vauthors=Cook A, Raskind W, Blanton SH |title=Genetic heterogeneity in families with hereditary multiple exostoses. |journal=Am. J. Hum. Genet. |volume=53 |issue= 1 |pages= 71–9 |year= 1993 |pmid= 8317501 | pmc=1682231 |display-authors=etal}}
{{cite journal | vauthors=Hou J, Parrish J, Lüdecke HJ |title=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). |journal=Genomics |volume=29 |issue= 1 |pages= 87–97 |year= 1996 |pmid= 8530105 |doi=10.1006/geno.1995.1218 |display-authors=etal}}
{{cite journal | vauthors=Hecht JT, Hogue D, Wang Y |title=Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. |journal=Am. J. Hum. Genet. |volume=60 |issue= 1 |pages= 80–6 |year= 1997 |pmid= 8981950 | pmc=1712567 |display-authors=etal}}
{{cite journal | vauthors=Lüdecke HJ, Ahn J, Lin X |title=Genomic organization and promoter structure of the human EXT1 gene. |journal=Genomics |volume=40 |issue= 2 |pages= 351–4 |year= 1997 |pmid= 9119404 |doi= 10.1006/geno.1996.4577 |display-authors=etal}}
{{cite journal | vauthors=Philippe C, Porter DE, Emerton ME |title=Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. |journal=Am. J. Hum. Genet. |volume=61 |issue= 3 |pages= 520–8 |year= 1997 |pmid= 9326317 |doi=10.1086/515505 | pmc=1715939 |display-authors=etal}}
{{cite journal | vauthors=Wuyts W, Van Hul W, De Boulle K |title=Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. |journal=Am. J. Hum. Genet. |volume=62 |issue= 2 |pages= 346–54 |year= 1998 |pmid= 9463333 |doi=10.1086/301726 | pmc=1376901 |display-authors=etal}}
{{cite journal | vauthors=Raskind WH, Conrad EU, Matsushita M |title=Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses. |journal=Hum. Mutat. |volume=11 |issue= 3 |pages= 231–9 |year= 1998 |pmid= 9521425 |doi= 10.1002/(SICI)1098-1004(1998)11:3<231::AID-HUMU8>3.0.CO;2-K |s2cid=20194422 |display-authors=etal}}
{{cite journal | vauthors=McCormick C, Leduc Y, Martindale D |title=The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate. |journal=Nat. Genet. |volume=19 |issue= 2 |pages= 158–61 |year= 1998 |pmid= 9620772 |doi= 10.1038/514 |s2cid=25832441 |display-authors=etal}}
{{cite journal | vauthors=Lin X, Gan L, Klein WH, Wells D |title=Expression and functional analysis of mouse EXT1, a homolog of the human multiple exostoses type 1 gene. |journal=Biochem. Biophys. Res. Commun. |volume=248 |issue= 3 |pages= 738–43 |year= 1998 |pmid= 9703997 |doi= 10.1006/bbrc.1998.9050 }}
{{cite journal | vauthors=Lind T, Tufaro F, McCormick C |title=The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate. |journal=J. Biol. Chem. |volume=273 |issue= 41 |pages= 26265–8 |year= 1998 |pmid= 9756849 |doi=10.1074/jbc.273.41.26265 |display-authors=etal|doi-access=free }}
{{cite journal | vauthors=Bovée JV, Cleton-Jansen AM, Wuyts W |title=EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas. |journal=Am. J. Hum. Genet. |volume=65 |issue= 3 |pages= 689–98 |year= 1999 |pmid= 10441575 |doi=10.1086/302532 | pmc=1377975 |display-authors=etal}}
{{cite journal | vauthors=Xu L, Xia J, Jiang H |title=Mutation analysis of hereditary multiple exostoses in the Chinese. |journal=Hum. Genet. |volume=105 |issue= 1–2 |pages= 45–50 |year= 1999 |pmid= 10480354 |doi=10.1007/s004390051062 |display-authors=etal}}
{{cite journal | vauthors=Simmons AD, Musy MM, Lopes CS |title=A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses. |journal=Hum. Mol. Genet. |volume=8 |issue= 12 |pages= 2155–64 |year= 1999 |pmid= 10545594 |doi=10.1093/hmg/8.12.2155 |display-authors=etal|doi-access=free }}
{{cite journal | vauthors=McCormick C, Duncan G, Goutsos KT, Tufaro F |title=The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 2 |pages= 668–73 |year= 2000 |pmid= 10639137 |doi=10.1073/pnas.97.2.668 | pmc=15388 |bibcode=2000PNAS...97..668M |doi-access=free }}
{{cite journal | vauthors=Kobayashi S, Morimoto K, Shimizu T |title=Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus. |journal=Biochem. Biophys. Res. Commun. |volume=268 |issue= 3 |pages= 860–7 |year= 2000 |pmid= 10679296 |doi= 10.1006/bbrc.2000.2219 |display-authors=etal}}

External links

[http://MHEResearchFoundation.org Multiple Hereditary Exostoses Research Foundation]

EXT1

Interactions

See also

References

Further reading

External links