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TOR1A May serve as a molecular chaperone assisting in the proper folding of secreted and/or membrane proteins. In the nucleus, displaces the nuclear membrane proteins SUN2, SYNE2 and nesprin-3/C14orf49, leaving nuclear pores and SUN1 unchanged. May form homohexamers. Interacts with TOR1AIP1 and TOR1AIP2. Interacts with KLHL14, preferentially when ATP-free. Widely expressed. Highest levels in kidney and liver. Not detected in spleen. In the brain, high levels found in the dopaminergic neurons of the substantia nigra pars compacta, as well as in the neocortex, hippocampus and cerebellum. Also high expression in the spinal cord. Belongs to the clpA/clpB family. Torsin subfamily. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 9q34.11
Cellular Component: cytoplasmic vesicle membrane; cytosol; endoplasmic reticulum; endoplasmic reticulum lumen; growth cone; intracellular membrane-bound organelle; membrane; nuclear envelope; nuclear membrane; secretory granule; synaptic vesicle
Molecular Function: ATPase activity; cytoskeletal protein binding; kinesin binding; protein binding
Biological Process: cell adhesion; intermediate filament cytoskeleton organization and biogenesis; neurite development; nuclear membrane organization and biogenesis; organelle organization and biogenesis; protein deneddylation; protein homooligomerization; regulation of dopamine uptake; synaptic vesicle transport
Disease: Dystonia 1, Torsion, Autosomal Dominant
Reference #:  O14656 (UniProtKB)
Alt. Names/Synonyms: DQ2; Dystonia 1 protein; dystonia 1, torsion (autosomal dominant; DYT1; TOR1A; torsin A); Torsin family 1 member A; torsin family 1, member A (torsin A); Torsin-1A
Gene Symbols: TOR1A
Molecular weight: 37,809 Da
Basal Isoelectric point: 6.51  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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