EXT1

For the filesystem, see Extended file system. For the algebraic concept, see Ext functor.
EXT1
Identifiers
AliasesEXT1, EXT, LGCR, LGS, TRPS2, TTV, exostosin glycosyltransferase 1
External IDsOMIM: 608177; MGI: 894663; HomoloGene: 30957; GeneCards: EXT1; OMA:EXT1 - orthologs
Orthologs
SpeciesHumanMouse
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 MbChr 15: 52.93 – 53.21 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Exostosin-1 is a protein that in humans is encoded by the EXT1 gene.[5]

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.[5]

Interactions

EXT1 has been shown to interact with TRAP1.[6]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000182197 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000061731 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: EXT1 exostoses (multiple) 1".
  6. ^ 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. 8 (12). ENGLAND: 2155–64. doi:10.1093/hmg/8.12.2155. ISSN 0964-6906. PMID 10545594.

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