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QuickView for TOR1A;jsessionid=A8BE1F5ED01BC44C7CC9201436BA3063 (gene)


Gene Symbol:
TOR1A Homo sapiens Homo sapiens
Full name:
torsin family 1 member A
Synonyms:
DQ2, DYT1, torsin-1A, dystonia 1 protein, dystonia 1, torsion (autosomal dominant; torsin A), torsin A, torsin ATPase 1, torsin ATPase-1A
Genomic Location:
Chr 9: 131615042-131626262
Description:
The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1.
Orthologs:
Mus musculus Rattus norvegicus D. melanogaster Macaca mulatta Gallus gallus Canis lupus familiaris Bos taurus Pan troglodytes
External Links:
Entrez Gene
Transcription Factor
Binding Sites:
Cytogenetic Map:
chr 9
9q34.11


Transcripts Names
NM_000113
XR_929731
Protein Names
Q96CA0
Q53Y64
B2RB58
B3KPA1
O14656



GO Molecular Function

ribonucleotide binding | nucleotide binding | hydrolase activity | carbohydrate derivative binding | unfolded protein binding | ATPase activity | pyrophosphatase activity | catalytic activity | ATP binding | cytoskeletal protein binding | anion binding | adenyl nucleotide binding | kinesin binding | nucleoside-triphosphatase activity | purine nucleotide binding | ion binding | organic cyclic compound binding | purine ribonucleoside triphosphate binding | protein binding | misfolded protein binding | hydrolase activity, acting on acid anhydrides | purine ribonucleotide binding | adenyl ribonucleotide binding | drug binding | heterocyclic compound binding | hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides | small molecule binding

GO Biological Process

protein modification by small protein removal | protein homooligomerization | nucleus organization | response to endoplasmic reticulum stress | positive regulation of cellular component organization | cell motility | 'de novo' posttranslational protein folding | regulation of cellular localization | proteolysis | regulation of localization | morphogenesis of an epithelium | establishment of localization | cell differentiation | response to misfolded protein | nervous system development | ER-associated misfolded protein catabolic process | neurogenesis | generation of neurons | membrane organization | intracellular transport | cellular process | organic substance catabolic process | establishment of organelle localization | localization | proteolysis involved in cellular protein catabolic process | chaperone-mediated protein folding | protein transport | neuron development | macromolecule localization | endomembrane system organization | establishment of localization in cell | tissue development | regulation of cellular process | catabolic process | organelle localization | epithelium development | response to topologically incorrect protein | cellular component organization | cellular response to topologically incorrect protein | protein deneddylation | response to stimulus | wound healing, spreading of cells | regulation of cellular protein localization | positive regulation of synaptic vesicle recycling | response to stress | regulation of response to drug | protein localization to nucleus | cellular protein catabolic process | cellular localization | regulation of neurotransmitter uptake | proteasomal protein catabolic process | nuclear envelope organization | cellular component assembly | protein modification process | modulation of chemical synaptic transmission | macromolecule modification | epiboly | regulation of neurotransmitter levels | locomotion | response to nitrogen compound | system development | nitrogen compound metabolic process | multicellular organism development | cell migration | protein complex oligomerization | regulation of protein localization to cell surface | wound healing | organic substance transport | cellular response to stress | protein catabolic process | regulation of dopamine uptake involved in synaptic transmission | peptide transport | vesicle-mediated transport | response to oxidative stress | morphogenesis of an epithelial sheet | regulation of synaptic transmission, dopaminergic | protein localization to organelle | establishment of vesicle localization | 'de novo' protein folding | regulation of synaptic vesicle endocytosis | nuclear membrane organization | positive regulation of transport | ERAD pathway | neuron differentiation | protein-containing complex assembly | protein metabolic process | response to organic substance | tissue morphogenesis | response to wounding | cellular macromolecule catabolic process | anatomical structure development | cell projection organization | metabolic process | protein quality control for misfolded or incompletely synthesized proteins | cellular protein localization | amide transport | intermediate filament-based process | regulation of vesicle-mediated transport | cell adhesion | neuron projection development | organic substance metabolic process | protein folding | protein modification by small protein conjugation or removal | cytoskeleton organization | establishment of protein localization | organonitrogen compound catabolic process | regulation of cell communication | cell development | regulation of endocytosis | synaptic vesicle localization | protein localization | cellular protein metabolic process | anatomical structure morphogenesis | cellular macromolecule localization | regulation of synaptic vesicle recycling | chaperone cofactor-dependent protein refolding | regulation of ion transport | developmental process | organelle organization | cellular protein modification process | regulation of transport | chaperone-mediated protein transport | intermediate filament cytoskeleton organization | response to organonitrogen compound | cellular response to misfolded protein | vesicle localization | cellular metabolic process | synaptic vesicle transport | cellular response to organic substance | regulation of protein localization | positive regulation of endocytosis | positive regulation of synaptic vesicle endocytosis | regulation of cellular component organization | regulation of signaling | macromolecule metabolic process | multicellular organismal process

GO Cellular Component

secretory granule | exocytic vesicle | intracellular membrane-bounded organelle | synapse | extrinsic component of organelle membrane | neuron projection | extrinsic component of membrane | organelle membrane | nuclear membrane | cytoplasmic vesicle | cell | distal axon | extrinsic component of endoplasmic reticulum membrane | cytoplasm | intracellular organelle | endoplasmic reticulum | presynapse | nuclear outer membrane-endoplasmic reticulum membrane network | cell projection | secretory vesicle | endomembrane system | endoplasmic reticulum membrane | nuclear envelope | vesicle | transport vesicle | endoplasmic reticulum lumen | extracellular exosome | site of polarized growth | synaptic vesicle | extracellular region | membrane-bounded organelle | extracellular vesicle | nucleus | organelle | vesicle membrane | extracellular space | axon | membrane-enclosed lumen | growth cone | cytosol | intracellular vesicle | cytoskeleton | intracellular | cell junction | membrane | cytoplasmic vesicle membrane