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Tor1a
Gene Detail
 Symbol
Name
ID
Tor1a
torsin family 1, member A (torsin A)
MGI:1353568
Synonyms DQ2, Dyt1, Tor1a, torsinA
Feature Type protein coding gene
Genetic Map
Chromosome 2
21.77 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr2:30960627-30967933 bp, - strand
From VEGA annotation of GRCm38

  7307 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:37263  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken

Protein SuperFamily: torsin
Gene Tree: Tor1a

Human
homologs
Human Homolog TOR1A, torsin family 1, member A (torsin A)
NCBI Gene ID 1861
neXtProt AC  NX_O14656
Human Synonyms  DQ2, DYT1
Human Chr (Location)  9q34; chr9:129812942-129824162 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human TOR1A
Mutations,
alleles, and
phenotypes
All mutations/alleles(11) : Gene trapped(3) Targeted(8)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for disruptions in this gene die either embryonically or very soon after birth. Heterozygous males display hyperactivity and coordination difficulties.
 
Human Diseases Modeled Using Mouse Tor1a (1)    Alleles Annotated to Human Diseases(2)   
Interactions
Tor1a interacts with 43 markers (Mir23a, Mir23b, Mir28b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (63 annotations)
Process ATP catabolic process, cell adhesion, ...
Component cell junction, cell projection, ...
Function ATPase activity, ATP binding, ...
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (155)    Tissues (56)   
Theiler Stages: 19, 20, 21, 23, 25, 26, 28
Assay TypeResults
Northern blot 14
Western blot 141
cDNA source data(66)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(68) Genomic(1) cDNA(66) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000011870 (Evidence)
Ensembl Gene ModelENSMUSG00000026849 (Evidence)
Entrez Gene30931 (Evidence)
UniGene154994
DFCITC1575718, TC1622126
DoTSDT.101734865, DT.110667905, DT.496329
NIA Mouse Gene IndexU022485
EC3.6.4.-
Consensus CDS ProjectCCDS15891.1
International Mouse Knockout Project StatusTor1a
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000011870 VEGA Gene Model | MGI Sequence Detail 7307 C57BL/6J ±  kb
transcript OTTMUST00000027950 VEGA | MGI Sequence Detail 1401 Not Applicable 
polypeptide OTTMUSP00000012685 VEGA | MGI Sequence Detail 333 Not Applicable 

For the selected sequences
All sequences(35) RefSeq(2) UniProt(2)
Polymorphisms SNPs within 2kb(62 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
InterPro IPR010448 Torsin
InterPro IPR017378 Torsin, subgroup
Protein Ontology PR:000016550 torsin-1A
References (Earliest) J:60248 Ozelius LJ, et al., The TOR1A (DYT1) gene family and its role in early onset torsion dystonia. Genomics. 1999 Dec 15;62(3):377-84
(Latest) J:209674 Iwabuchi S, et al., Minimal Change in the cytoplasmic calcium dynamics in striatal GABAergic neurons of a DYT1 dystonia knock-in mouse model. PLoS One. 2013;8(11):e80793
All references(65)
Disease annotation references (4)

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
07/23/2014
MGI 5.19
The Jackson Laboratory