EXT1

Last updated
EXT1
Identifiers
Aliases EXT1 , EXT, LGCR, LGS, TRPS2, TTV, exostosin glycosyltransferase 1
External IDs OMIM: 608177; MGI: 894663; HomoloGene: 30957; GeneCards: EXT1; OMA:EXT1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000127

NM_010162

RefSeq (protein)

NP_000118

NP_034292

Location (UCSC) Chr 8: 117.79 – 118.11 Mb Chr 15: 52.93 – 53.21 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

Contents

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. 1 2 3 GRCh38: Ensembl release 89: ENSG00000182197 Ensembl, May 2017
  2. 1 2 3 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. 1 2 "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.

Further reading