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Tor1a Gene Detail
Summary
  • Symbol
    Tor1a
  • Name
    torsin family 1, member A (torsin A)
  • Synonyms
    DQ2, Dyt1, Tor1a, torsinA
  • Feature Type
    protein coding gene
  • IDs
    MGI:1353568
    NCBI Gene: 30931
  • Alliance
    genome feature page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:30850639-30857945 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 21.77 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    289 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1353568
 protein coding gene Chr2:30850573-30857945 (-)
129S1/SvImJ ENSMUSG00200052817
 protein coding gene Chr2:27821685-27828991 (-)
A/J ENSMUSG00195044326
 protein coding gene Chr2:27916166-27923472 (-)
AKR/J ENSMUSG00220051761
 protein coding gene Chr2:28034124-28041430 (-)
BALB/cJ ENSMUSG00180053990
 protein coding gene Chr2:27934686-27941992 (-)
C3H/HeJ ENSMUSG00175051377
 protein coding gene Chr2:27903896-27911202 (-)
C57BL/6NJ ENSMUSG00215043234
 protein coding gene Chr2:27969604-27976910 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0023405
 protein coding gene Chr2:26832218-26839416 (-)
CAST/EiJ ENSTCUG00005052960
 protein coding gene Chr2:27648438-27655685 (-)
CBA/J ENSMUSG00210015093
 protein coding gene Chr2:27976824-27984130 (-)
DBA/2J ENSMUSG00185043502
 protein coding gene Chr2:27829563-27836869 (-)
FVB/NJ ENSMUSG00205029758
 protein coding gene Chr2:27681688-27688994 (-)
JF1/MsJ ENSUMUG00000050838
 protein coding gene Chr2:27728953-27736232 (-)
LP/J ENSMUSG00230042976
 protein coding gene Chr2:29757331-29764637 (-)
NOD/ShiLtJ ENSMUSG00190050996
 protein coding gene Chr2:27936276-27943582 (-)
NZO/HlLtJ ENSMUSG00225006832
 protein coding gene Chr2:37507810-37515116 (-)
PWK/PhJ ENSLUMG00010050129
 protein coding gene Chr2:27814244-27821534 (-)
SPRET/EiJ ENSMSPG00010033160
 protein coding gene Chr2:28532311-28539562 (-)
WSB/EiJ ENSIUOG00005051449
 protein coding gene Chr2:27787472-27794778 (-)



Homology
more
  • Human Ortholog
    TOR1A, torsin family 1 member A
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TOR1A, torsin family 1 member A
  • Synonyms
    AMC5, DQ2, DYT1
  • Links
    NCBI Gene ID: 1861
    UniProt: O14656

  • Chr Location
    9q34.11; chr9:129812942-129824244 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Tor1a mouse models; 2 with human TOR1A associations

Human Disease Mouse Models
      
IDs
 View 4 models
      
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    71 phenotypes from 9 alleles in 18 genetic backgrounds
    21 phenotypes from multigenic genotypes
    2 images
    87 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 die either embryonically or very soon after birth. Heterozygous males display hyperactivity and coordination difficulties.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    113
  • GO References
    18
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
    752
  • Tissues
    70
  • cDNA Data
    67
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000026849 Ensembl Gene Model | MGI Sequence Detail 7307 C57BL/6J ±  kb
    transcript ENSMUST00000028200 Ensembl | MGI Sequence Detail 1401 Not Applicable  
    polypeptide ENSMUSP00000028200 Ensembl | MGI Sequence Detail 333 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 69
      Genomic 1
      cDNA 67
      Primer pair 1
      Antibodies 3

      Microarray probesets 3
    References
    more
    • Summaries
      All 140
      Developmental Gene Expression 7
      Diseases 6
      Gene Ontology 18
      Phenotypes 87
    • Earliest
      J:42718 Ozelius LJ, et al., The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet. 1997 Sep;17(1):40-8
    • Latest
      J:375377 Xing H, et al., Subtle changes in Purkinje cell firing in Purkinje cell-specific Dyt1 DeltaGAG knock-in mice. Dystonia. 2025;4
    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
    09/08/2026
    MGI 6.24     		The Jackson Laboratory