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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; 1 western clawed frog

HCOP human homology predictions: TOR1A
Protein SuperFamily: torsin
Gene Tree: Tor1a

Human
homologs
TOR1A, torsin family 1, member A (torsin A)
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 1861
neXtProt AC: NX_O14656

Human Synonyms: DQ2, DYT1

Human Chr (Location): 9q34; chr9:129812942-129824245 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human TOR1A

Mutations,
alleles, and
phenotypes
All mutations/alleles(15) : Gene trapped(3) Targeted(9) Transgenic(3)
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 in Mice Using Tor1a (1)    Mutations Annotated to Human Diseases (5)   
Interactions
Tor1a interacts with 42 markers (Mir23a, Mir23b, Mir28b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (64 annotations)
Process cell adhesion, chaperone-mediated protein folding, ...
Component cell junction, cell projection, ...
Function ATPase activity, ATP binding, ...
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (155)    Tissues (70)    Tissue x Stage Matrix (view)
Assay TypeResults
Northern blot 14
Western blot 141
cDNA source data(66)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase tor1a    NEW 
Molecular
reagents
All nucleic(68) Genomic(1) cDNA(66) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000011870 (Evidence)
Ensembl Gene Model ENSMUSG00000026849 (Evidence)
Entrez Gene 30931 (Evidence)
UniGene 154994
DFCI TC1575718, TC1622126
DoTS DT.101734865, DT.110667905, DT.496329
NIA Mouse Gene Index U022485
EC 3.6.4.-
Consensus CDS Project CCDS15891.1
International Mouse Phenotyping Consortium Status Tor1a
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:213785 Liang CC, et al., TorsinA hypofunction causes abnormal twisting movements and sensorimotor circuit neurodegeneration. J Clin Invest. 2014 Jul 1;124(7):3080-92
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
08/18/2015
MGI 6.0
The Jackson Laboratory