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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
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:53068261-53346183 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 20.00 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2124 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_894663
protein coding gene Chr15:53064038-53346183 (-)
129S1/SvImJ MGP_129S1SvImJ_G0021843
protein coding gene Chr15:52058043-52354528 (-)
A/J MGP_AJ_G0021803
protein coding gene Chr15:49999121-50285852 (-)
AKR/J MGP_AKRJ_G0021784
protein coding gene Chr15:51393610-51687183 (-)
BALB/cJ MGP_BALBcJ_G0021810
protein coding gene Chr15:50217910-50501878 (-)
C3H/HeJ MGP_C3HHeJ_G0021584
protein coding gene Chr15:51503610-51799705 (-)
C57BL/6NJ MGP_C57BL6NJ_G0022249
protein coding gene Chr15:54121109-54417524 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0019786
protein coding gene Chr15:47313059-47595419 (-)
CAST/EiJ MGP_CASTEiJ_G0021101
protein coding gene Chr15:52043718-52349393 (-)
CBA/J MGP_CBAJ_G0021553
protein coding gene Chr15:56060086-56368552 (-)
DBA/2J MGP_DBA2J_G0021677
protein coding gene Chr15:49845745-50134890 (-)
FVB/NJ MGP_FVBNJ_G0021655
protein coding gene Chr15:49042909-49330054 (-)
LP/J MGP_LPJ_G0021747
protein coding gene Chr15:51838932-52153946 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0021679
protein coding gene Chr15:61118995-61424144 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0022272
protein coding gene Chr15:51770654-52065860 (-)
PWK/PhJ MGP_PWKPhJ_G0020846
protein coding gene Chr15:49945798-50238004 (-)
SPRET/EiJ MGP_SPRETEiJ_G0020683
protein coding gene Chr15:51480005-51783094 (-)
WSB/EiJ MGP_WSBEiJ_G0021156
protein coding gene Chr15:51737734-52031595 (-)



Homology
more
  • Human Ortholog
    EXT1, exostosin glycosyltransferase 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    EXT1, exostosin glycosyltransferase 1
    Orthology source: HGNC, HomoloGene
  • 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
less
  • Phenotype Summary
    72 phenotypes from 8 alleles in 13 genetic backgrounds
    6 phenotypes from multigenic genotypes
    5 images
    56 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

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

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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 14042 NCBI Gene Model | MGI Sequence Detail 277923 C57BL/6J ±  kb
    transcript NM_010162 RefSeq | MGI Sequence Detail 3478 C57BL/6  
    polypeptide P97464 UniProt | EBI | MGI Sequence Detail 746 Not Applicable  
    For the selected sequence
    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 15
      Diseases 5
      Gene Ontology 8
      Phenotypes 56
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:263185 Huang M, et al., Multiple roles of epithelial heparan sulfate in stomach morphogenesis. J Cell Sci. 2018 May 29;131(10)

    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
    12/04/2018
    MGI 6.13
    The Jackson Laboratory