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Gene: EXT1 (exostosin glycosyltransferase 1) Homo sapiens
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Symbol: EXT1
Name: exostosin glycosyltransferase 1
Description: Exhibits UDP-glycosyltransferase activity and protein dimerization activity. Involved in glycosaminoglycan biosynthetic process; heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process; and ossification. Localizes to the Golgi apparatus and endoplasmic reticulum. Implicated in chondrosarcoma; hereditary multiple exostoses; and trichorhinophalangeal syndrome type II. Biomarker of chondrosarcoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: exostoses (multiple) 1; exostosin 1; exostosin-1; EXT; Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase; glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; Langer-Giedion syndrome chromosome region; LGCR; LGS; multiple exostoses protein 1; N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase; putative tumor suppressor protein EXT1; TRPS2; TTV
Orthologs:
Mus musculus (house mouse) : Ext1 (exostosin glycosyltransferase 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Ext1 (exostosin glycosyltransferase 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Ext1 (exostosin glycosyltransferase 1)
Pan paniscus (bonobo/pygmy chimpanzee) : EXT1 (exostosin glycosyltransferase 1)
Canis lupus familiaris (dog) : EXT1 (exostosin glycosyltransferase 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Ext1 (exostosin glycosyltransferase 1)
Sus scrofa (pig) : EXT1 (exostosin glycosyltransferase 1)
Chlorocebus sabaeus (African green monkey) : EXT1 (exostosin glycosyltransferase 1)
Heterocephalus glaber (naked mole-rat) : Ext1 (exostosin glycosyltransferase 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl8117,794,490 - 118,111,853 (-)Ensembl
GRCh388117,794,490 - 118,111,826 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378118,811,602 - 119,124,058 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368118,880,783 - 119,193,239 (-)NCBINCBI36hg18NCBI36
Build 348118,880,786 - 119,193,239NCBI
Celera8115,000,160 - 115,312,582 (-)NCBI
Cytogenetic Map8q24.11NCBI
HuRef8114,138,448 - 114,450,830 (-)NCBIHuRef
CHM1_18118,852,044 - 119,165,143 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
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