EXT1: Difference between revisions

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*{{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=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}}
*{{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  | 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  }}
*{{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  | 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}}
*{{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}}
}}
}}

Revision as of 10:19, 23 June 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

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Location (UCSC)n/an/a
PubMed searchn/an/a
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