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Ext1 Gene Detail
Summary
  • Symbol
    Ext1
  • Name
    exostosin glycosyltransferase 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:894663
    NCBI Gene: 14042
  • Alliance
    gene page
  • Transcription Start Sites
    13 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:52931657-53209579 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 20.00 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    8082 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_894663
 protein coding gene Chr15:52927434-53209579 (-)
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
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EXT1, exostosin glycosyltransferase 1
  • Synonyms
    EXT, LGCR, LGS, TRPS2, TTV
  • Links
    NCBI Gene ID: 2131
    neXtProt AC: NX_Q16394
    UniProt: Q16394

  • Chr Location
    8q24.11; chr8:117794490-118111826 (-)  GRCh38
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
    69 phenotypes from 7 alleles in 13 genetic backgrounds
    9 phenotypes from multigenic genotypes
    5 images
    83 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
less
  • All GO Annotations
    144
  • GO References
    46
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    1082
  • Tissues
    176
  • cDNA Data
    87
  • Literature Summary
    17
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 131
      Developmental Gene Expression 17
      Diseases 5
      Gene Ontology 46
      Phenotypes 83
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:352526 Garcia SA, et al., Analysis of the Actions of RARgamma Agonists on Growing Osteochondromas in a Mouse Model. Int J Mol Sci. 2024 Jul 11;25(14)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory