EXT1

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

AliasesEXT1, EXT, LGCR, LGS, TRPS2, TTV, exostosin glycosyltransferase 1

External IDsOMIM: 608177; MGI: 894663; HomoloGene: 30957; GeneCards: EXT1; OMA:EXT1 - orthologs

Chr.Chromosome 8 (human)^[1]

End118,111,826 bp^[1]

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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
Gene location (Human) Chr. Chromosome 8 (human)[1] Band 8q24.11 Start 117,794,490 bp[1] End 118,111,826 bp[1]
Gene location (Mouse) Chr. Chromosome 15 (mouse)[2] Band 15 C|15 20.0 cM Start 52,927,434 bp[2] End 53,209,555 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in stromal cell of endometrium saphenous vein Descending thoracic aorta ascending aorta right coronary artery jejunal mucosa ventricular zone popliteal artery tibial arteries duodenum Top expressed in tail of embryo cumulus cell secondary oocyte genital tubercle efferent ductule external carotid artery zygote ascending aorta epithelium of lens internal carotid artery More reference expression data BioGPS 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 Species Human Mouse 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 Mb Chr 15: 52.93 – 53.21 Mb PubMed search [3] [4]
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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]