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Gene: Ext1 (exostosin glycosyltransferase 1) Mus musculus
Symbol: Ext1
Name: exostosin glycosyltransferase 1
Description: Exhibits N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity and glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity. Involved in several processes, including embryonic skeletal joint development; heparan sulfate proteoglycan biosynthetic process; and nervous system development. Localizes to the integral component of endoplasmic reticulum membrane. Used to study autism spectrum disorder and hereditary multiple exostoses. Human ortholog(s) of this gene implicated in chondrosarcoma; hereditary multiple exostoses; and trichorhinophalangeal syndrome type II. Is expressed in several structures, including alimentary system; brain; extraembryonic component; genitourinary system; and limb. Orthologous to human EXT1 (exostosin glycosyltransferase 1); PARTICIPATES IN heparan sulfate biosynthetic pathway; INTERACTS WITH 17alpha-ethynylestradiol; 2,3,7,8-tetrachlorodibenzodioxine; 4-hydroxyphenyl retinamide.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: AA409028; exostoses (multiple) 1; exostosin-1; glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; multiple exostoses protein 1 homolog
Homo sapiens (human) : EXT1 (exostosin glycosyltransferase 1)  HGNC  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 (green monkey) : EXT1 (exostosin glycosyltransferase 1)
Heterocephalus glaber (naked mole-rat) : Ext1 (exostosin glycosyltransferase 1)
more info ...
Latest Assembly: GRCm38 - Mouse Genome Assembly GRCm38
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
GRCm38 Ensembl1553,064,038 - 53,346,159 (-)Ensembl
GRCm381553,068,261 - 53,346,183 (-)NCBIGRCm38GRCm38mm10GRCm38
MGSCv371552,899,816 - 53,177,738 (-)NCBIGRCm37mm9NCBIm37
MGSCv361552,898,622 - 53,176,027 (-)NCBImm8
Celera1554,621,498 - 54,903,011 (-)NCBICelera
Cytogenetic Map15 CNCBI
cM Map1520.0NCBI
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
QTLs in Region (GRCm38)
miRNA Target Status



Nucleotide Sequences
Protein Sequences

Additional Information

External Database Links
Nomenclature History
More on Ext1
Alliance Gene
Ensembl Gene
JBrowse: mm9 mm10
MGI Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1313967
Created: 2005-01-12
Species: Mus musculus
Last Modified: 2019-11-27
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.