EXT1

Also known as EXT, LGCR, LGS, TRPS2, TTV, exostosin glycosyltransferase 1

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

Gene data

EXT1

Name: exostosin glycosyltransferase 1
Type: protein-coding
Position: 117,794,490–118,111,899 (−)
Aliases: EXT, LGCR, LGS, TRPS2, TTV
Ensembl: ENSG00000182197
RefSeq RNA: NM_000127.3
RefSeq protein: NP_000118.2

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. [provided by RefSeq, Jul 2008].

Gene Ontology

Biological process

polysaccharide biosynthetic process ossification ossification glycosaminoglycan biosynthetic process glycoprotein biosynthetic process heparan sulfate proteoglycan biosynthetic process heparan sulfate proteoglycan biosynthetic process heparan sulfate proteoglycan biosynthetic process

Molecular function

protein binding acetylglucosaminyltransferase activity glucuronosyltransferase activity glycosyltransferase activity heparan sulfate N-acetylglucosaminyltransferase activity protein homodimerization activity protein heterodimerization activity glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity

Cellular component

Golgi membrane Golgi membrane Golgi membrane endoplasmic reticulum endoplasmic reticulum endoplasmic reticulum membrane endoplasmic reticulum membrane endoplasmic reticulum membrane

Pathways

Glycosaminoglycan biosynthesis - heparan sulfate / heparin - Homo sapiens (human)Metabolism Glycosaminoglycan metabolism Heparan sulfate/heparin (HS-GAG) metabolism Disease HS-GAG biosynthesis Diseases associated with glycosaminoglycan metabolism Defective EXT2 causes exostoses 2 Defective EXT1 causes exostoses 1, TRPS2 and CHDS Diseases of glycosylation

via MyGene.info

Gene · Ensembl

exostosin glycosyltransferase 1

Symbol: EXT1
Biotype: Protein coding
Organism: Homo sapiens
Location: 8:117,794,490-118,111,899
Strand: Reverse (−)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

~1 min read

Encyclopedic overview

5 sections

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External links

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

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.

Excerpted from Wikipedia’s “EXT1” article, available under the CC BY-SA 4.0 licence.