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{{Infobox_gene}}
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'''Exostosin-1''' is a [[protein]] that in humans is encoded by the ''EXT1'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: EXT1 exostoses (multiple) 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2131| accessdate = }}</ref>
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = Exostoses (multiple) 1
| HGNCid = 3512
| Symbol = EXT1
| AltSymbols =; EXT; ttv
| OMIM = 608177
| ECnumber = 
| Homologene = 30957
| MGIid = 894663
| GeneAtlas_image1 = PBB_GE_EXT1_201995_at_tn.png
| GeneAtlas_image2 = PBB_GE_EXT1_214985_at_tn.png
| Function = {{GNF_GO|id=GO:0016757 |text = transferase activity, transferring glycosyl groups}} {{GNF_GO|id=GO:0050508 |text = glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity}} {{GNF_GO|id=GO:0050509 |text = N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity}}
| Component = {{GNF_GO|id=GO:0005783 |text = endoplasmic reticulum}} {{GNF_GO|id=GO:0005789 |text = endoplasmic reticulum membrane}} {{GNF_GO|id=GO:0005794 |text = Golgi apparatus}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}} {{GNF_GO|id=GO:0030176 |text = integral to endoplasmic reticulum membrane}}  
| Process = {{GNF_GO|id=GO:0001501 |text = skeletal development}} {{GNF_GO|id=GO:0006024 |text = glycosaminoglycan biosynthetic process}} {{GNF_GO|id=GO:0007049 |text = cell cycle}} {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0007369 |text = gastrulation}} {{GNF_GO|id=GO:0007492 |text = endoderm development}} {{GNF_GO|id=GO:0007498 |text = mesoderm development}} {{GNF_GO|id=GO:0015012 |text = heparan sulfate proteoglycan biosynthetic process}} {{GNF_GO|id=GO:0045786 |text = negative regulation of progression through cell cycle}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 2131
    | Hs_Ensembl = ENSG00000182197
    | Hs_RefseqProtein = NP_000118
    | Hs_RefseqmRNA = NM_000127
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 8
    | Hs_GenLoc_start = 118875910
    | Hs_GenLoc_end = 119193119
    | Hs_Uniprot = Q16394
    | Mm_EntrezGene = 14042
    | Mm_Ensembl = ENSMUSG00000061731
    | Mm_RefseqmRNA = NM_010162
    | Mm_RefseqProtein = NP_034292
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 15
    | Mm_GenLoc_start = 52898747
    | Mm_GenLoc_end = 53175446
    | Mm_Uniprot = Q3V1P4
  }}
}}
'''Exostoses (multiple) 1''', also known as '''EXT1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: EXT1 exostoses (multiple) 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2131| accessdate = }}</ref>


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{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =  
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: EXT1 exostoses (multiple) 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2131| accessdate = }}</ref>
| summary_text = 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 [[Hereditary multiple exostoses|Multiple Exostoses]].<ref name="entrez"/>
}}
}}
==Interactions==
EXT1 has been shown to [[Protein-protein interaction|interact]] with [[TRAP1]].<ref name=pmid10545594>{{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 |publisher= |location = ENGLAND| issn = 0964-6906| pmid = 10545594 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = }}</ref>
==See also==
* [[Langer-Giedion syndrome]]
* [[Hereditary multiple exostoses]] type 1


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=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 }}
*{{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 }}
*{{cite journal  | author=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=  }}
*{{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  | author=Ogle RF, Dalzell P, Turner G, ''et al.'' |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=  }}
*{{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  | author=Ahn J, Lüdecke HJ, Lindow S, ''et al.'' |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 }}
*{{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 |display-authors=etal}}
*{{cite journal  | author=Cook A, Raskind W, Blanton SH, ''et al.'' |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 |doi=  }}
*{{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 |doi=  | pmc=1682231  |display-authors=etal}}
*{{cite journal  | author=Hou J, Parrish J, Lüdecke HJ, ''et al.'' |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=  }}
*{{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  | author=Hecht JT, Hogue D, Wang Y, ''et al.'' |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 |doi=  }}
*{{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 |doi=  | pmc=1712567  |display-authors=etal}}
*{{cite journal  | author=Lüdecke HJ, Ahn J, Lin X, ''et al.'' |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 }}
*{{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  | author=Philippe C, Porter DE, Emerton ME, ''et al.'' |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=  }}
*{{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  | author=Wuyts W, Van Hul W, De Boulle K, ''et al.'' |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=  }}
*{{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  | author=Raskind WH, Conrad EU, Matsushita M, ''et al.'' |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 }}
*{{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 |display-authors=etal}}
*{{cite journal  | author=McCormick C, Leduc Y, Martindale D, ''et al.'' |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 }}
*{{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 |display-authors=etal}}
*{{cite journal  | author=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=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  | author=Lind T, Tufaro F, McCormick C, ''et al.'' |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= }}
*{{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}}
*{{cite journal  | author=Bovée JV, Cleton-Jansen AM, Wuyts W, ''et al.'' |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=  }}
*{{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  | author=Xu L, Xia J, Jiang H, ''et al.'' |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=  }}
*{{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  | author=Simmons AD, Musy MM, Lopes CS, ''et al.'' |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=  }}
*{{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}}
*{{cite journal  | author=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=  }}
*{{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 }}
*{{cite journal  | author=Kobayashi S, Morimoto K, Shimizu T, ''et al.'' |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 }}
*{{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}}
}}
}}
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==External links==
==External links==
* [http://MHEResearchFoundation.org Multiple Hereditary Exostoses Research Foundation]
* [http://MHEResearchFoundation.org Multiple Hereditary Exostoses Research Foundation]
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{{Glycosyltransferases}}
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Latest revision as of 08:42, 10 January 2019

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
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Wikidata
View/Edit Human

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

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.[1]

Interactions

EXT1 has been shown to interact with TRAP1.[2]

See also

References

  1. ↑ 1.0 1.1 "Entrez Gene: EXT1 exostoses (multiple) 1".
  2. ↑ 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.

Further reading

External links



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