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Gene: TOR1A (torsin family 1 member A) Homo sapiens
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Symbol: TOR1A
Name: torsin family 1 member A
Description: Exhibits ATPase activity; identical protein binding activity; and kinesin binding activity. Involved in several processes, including positive regulation of synaptic vesicle endocytosis; protein deneddylation; and regulation of dopamine uptake involved in synaptic transmission. Localizes to the endoplasmic reticulum; nuclear membrane; and synaptic vesicle. Implicated in torsion dystonia 1.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DQ2; dystonia 1 protein; dystonia 1, torsion (autosomal dominant, torsin A); DYT1; torsin A; torsin ATPase 1; torsin ATPase-1A; torsin family 1, member A (torsin A); torsin-1A
Orthologs:
Mus musculus (house mouse) : Tor1a (torsin family 1, member A (torsin A))  MGI  Alliance
Rattus norvegicus (Norway rat) : Tor1a (torsin family 1, member A)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Tor1a (torsin family 1 member A)
Canis lupus familiaris (dog) : TOR1A (torsin family 1 member A)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Tor1a (torsin family 1 member A)
Sus scrofa (pig) : TOR1A (torsin family 1 member A)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389129,812,942 - 129,824,136 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh379132,575,221 - 132,586,441 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369131,615,042 - 131,626,262 (-)NCBINCBI36hg18NCBI36
Build 349129,654,775 - 129,665,995NCBI
Celera9103,226,256 - 103,237,469 (-)NCBI
Cytogenetic Map9q34.11NCBI
HuRef9102,174,061 - 102,185,267 (-)NCBIHuRef
CHM1_19132,724,350 - 132,735,481 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
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Genomics

Comparative Map Data
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miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
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Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on TOR1A
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1345813
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-11-26
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.