EXT1

EXT1
Identifiers
Aliases	EXT1, EXT, LGCR, LGS, TRPS2, TTV, exostosin glycosyltransferase 1
External IDs	MGI: 894663 HomoloGene: 30957 GeneCards: EXT1
Genetically Related Diseases
obesity
Gene ontology Molecular function • transferase activity • heparan sulfate N-acetylglucosaminyltransferase activity • acetylglucosaminyltransferase activity • protein homodimerization activity • transferase activity, transferring glycosyl groups • N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity • glucuronosyltransferase activity • glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity • metal ion binding • protein heterodimerization activity Cellular component • integral component of membrane • Golgi apparatus • endoplasmic reticulum membrane • membrane • Golgi membrane • integral component of endoplasmic reticulum membrane • endoplasmic reticulum Biological process • skeletal system development • heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process • endoderm development • embryonic skeletal joint development • ossification • heparan sulfate proteoglycan biosynthetic process • axon guidance • protein glycosylation • brain development • gastrulation • glycosaminoglycan biosynthetic process • olfactory bulb development • mesoderm development • cellular polysaccharide biosynthetic process • signal transduction Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	2131	14042
Ensembl	ENSG00000182197	ENSMUSG00000061731
UniProt	Q16394	P97464
RefSeq (mRNA)	NM_000127	NM_010162
RefSeq (protein)	NP_000118	NP_034292.2 NP_034292
Location (UCSC)	Chr 8: 117.79 – 118.11 Mb	Chr 15: 53.06 – 53.35 Mb
PubMed search

2131

14042

ENSG00000182197

ENSMUSG00000061731

Q16394

P97464

NM_000127

NM_010162

NP_000118

NP_034292.2
NP_034292

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

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.

EXT1 has been shown to interact with TRAP1.

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Wikipedia