EXT1

EXT1
Identifiers
Aliases	EXT1, EXT, LGCR, LGS, TRPS2, TTV, exostosin glycosyltransferase 1
External IDs	OMIM: 608177 MGI: 894663 HomoloGene: 30957 GeneCards: EXT1
Gene location (Human)
Chr.	Chromosome 8 (human)
End	118,111,826 bp
Gene location (Mouse)
Chr.	Chromosome 15 (mouse)
End	53,209,555 bp
RNA expression pattern
	Top expressed in
	stromal cell of endometrium; ; saphenous vein; ; ascending aorta; ; right coronary artery; ; jejunal mucosa; ; popliteal artery; ; duodenum; ; left coronary artery; ; vena cava; ; oocyte;
	Top expressed in
	cumulus cell; ; secondary oocyte; ; external carotid artery; ; ascending aorta; ; internal carotid artery; ; belly cord; ; semi-lunar valve; ; body of femur; ; dermis; ; molar;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	transferase activity; heparan sulfate N-acetylglucosaminyltransferase activity; acetylglucosaminyltransferase activity; protein homodimerization activity; glycosyltransferase activity; 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; olfactory bulb development; mesoderm development; cellular polysaccharide biosynthetic process; signal transduction; glycosaminoglycan biosynthetic process;
	Sources:Amigo / QuickGO
Orthologs
	2131
	14042
	ENSG00000182197
	ENSMUSG00000061731
	Q16394
	P97464
	NM_000127
	NM_010162
	NP_000118
	NP_034292
	Wikidata
View/Edit Human	View/Edit Mouse

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.

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