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Ext1 Gene Detail
Summary
  • Symbol
    Ext1
  • Name
    exostoses (multiple) 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:894663
    NCBI Gene: 14042
  • Gene Overview
    MyGene.info: EXT1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr15:53064038-53346159 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      282122 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 20.00 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    EXT1, exostosin glycosyltransferase 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    EXT1, exostosin glycosyltransferase 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    EXT, LGCR, LGS, TRPS2, TTV
  • Links
    NCBI Gene ID: 2131
    neXtProt AC: NX_Q16394
    UniProt: Q16394

  • Chr Location
    8q24.11; chr8:117797496-118111819 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 30957
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: EXT1
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with Ext1 mouse models; 2 with human EXT1 associations

Human Disease Mouse Models
      
IDs
View 5 models
      
IDs
View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    72 phenotypes from 8 alleles in 13 genetic backgrounds
    6 phenotypes from multigenic genotypes
    5 images
    55 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for disruptions in this gene display a lethal phenotype.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    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 sequence
    Polymorphisms
    less
    • SNPs within 2kb
      2142 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 89
      cDNA 87
      Primer pair 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2145899
    References
    more
    • Summaries
      All 95
      Developmental Gene Expression 14
      Diseases 5
      Gene Ontology 8
      Phenotypes 55
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:243870 He H, et al., Epithelial heparan sulfate regulates Sonic Hedgehog signaling in lung development. PLoS Genet. 2017 Aug;13(8):e1006992

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    07/10/2018
    MGI 6.12
    The Jackson Laboratory