About   Help   FAQ
Ext1
Gene Detail
Symbol

Name
ID
Ext1
exostoses (multiple) 1
MGI:894663
Feature Type
protein coding gene
Genetic Map
Chromosome 15
20.00 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr15:53064038-53346159 bp, - strand
From VEGA annotation of GRCm38

  282122 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:30957  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: EXT1
Gene Tree: Ext1

Human
homologs
EXT1, exostosin glycosyltransferase 1
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 2131
neXtProt AC: NX_Q16394

Human Synonyms: EXT, LGCR, LGS, TRPS2, TTV

Human Chr (Location): 8q24.11; chr8:117799363-118111819 (-)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human EXT1

Mutations,
alleles, and
phenotypes
All mutations/alleles(28) : Gene trapped(18) Targeted(10)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Mice homozygous for disruptions in this gene display a lethal phenotype.
 
Human Diseases Modeled in Mice Using Ext1 (3)    Mutations Annotated to Human Diseases (1)   
Interactions
Ext1 interacts with 457 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (13 records)
Data Summary: Results (356)    Tissues (164)    Images (48)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 356
cDNA source data(85)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase ext1 ; ZFIN ext1a, ext1b    NEW 
Molecular
reagents
All nucleic(86) cDNA(85) Primer pair(1)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000019491 (Evidence)
Ensembl Gene Model ENSMUSG00000061731 (Evidence)
Entrez Gene 14042 (Evidence)
UniGene 309395
DFCI TC1578223, TC1655744, TC1659190
DoTS DT.529500, DT.97366800
NIA Mouse Gene Index U036169
EC 2.4.1.224, 2.4.1.225
Consensus CDS Project CCDS27466.1
International Mouse Phenotyping Consortium Status Ext1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000019491 VEGA Gene Model | MGI Sequence Detail 282122 C57BL/6J ±  kb
transcript OTTMUST00000046534 VEGA | MGI Sequence Detail 7663 Not Applicable 
polypeptide OTTMUSP00000021013 VEGA | MGI Sequence Detail 746 Not Applicable 

For the selected sequences
All sequences(39) RefSeq(2) UniProt(4)
Polymorphisms
RFLP(1) : SNPs within 2kb(2152 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR027670 Exostosin-1
InterPro IPR015338 Exostosin , C-terminal
InterPro IPR004263 Exostosin-like
InterPro IPR029044 Nucleotide-diphospho-sugar transferases
Protein Ontology PR:000007268 exostosin-1
References
(Earliest) J:48118 Hennekam RC, Hereditary multiple exostoses. J Med Genet. 1991 Apr;28(4):262-6
(Latest) J:220029 Mooij HL, et al., Ext1 heterozygosity causes a modest effect on postprandial lipid clearance in humans. J Lipid Res. 2015 Mar;56(3):665-73
All references(77)
Disease annotation references (3)
Other
accession IDs
MGI:2145899

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/25/2015
MGI 6.0
The Jackson Laboratory