Aliases for TOR1A Gene
External Ids for TOR1A Gene
Previous HGNC Symbols for TOR1A Gene
Previous GeneCards Identifiers for TOR1A Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for TOR1A Gene
TOR1A (Torsin Family 1 Member A) is a Protein Coding gene. Diseases associated with TOR1A include Dystonia 1, Torsion, Autosomal Dominant and Early-Onset Generalized Dystonia. Among its related pathways are Cytoskeletal Signaling and Clathrin-mediated endocytosis. Gene Ontology (GO) annotations related to this gene include ATPase activity and cytoskeletal protein binding. An important paralog of this gene is TOR1B.
UniProtKB/Swiss-Prot for TOR1A Gene
Protein with chaperone functions important for the control of protein folding, processing, stability and localization as well as for the reduction of misfolded protein aggregates. Involved in the regulation of synaptic vesicle recycling, controls STON2 protein stability in collaboration with the COP9 signalosome complex (CSN). In the nucleus, may link the cytoskeleton with the nuclear envelope, this mechanism seems to be crucial for the control of nuclear polarity, cell movement and, specifically in neurons, nuclear envelope integrity. Participates in the cellular trafficking and may regulate the subcellular location of multipass membrane proteins such as the dopamine transporter SLC6A3, leading to the modulation of dopamine neurotransmission. In the endoplasmic reticulum, plays a role in the quality control of protein folding by increasing clearance of misfolded proteins such as SGCE variants or holding them in an intermediate state for proper refolding. May have a redundant function with TOR1B in non-neural tissues.