O14656.1
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
37,809 Da
NCBI Official Full Name
Torsin-1A
NCBI Official Synonym Full Names
torsin family 1, member A (torsin A)
NCBI Official Synonym Symbols
NCBI Protein Information
torsin-1A; torsin ATPase 1; torsin ATPase-1A; dystonia 1 protein; torsin family 1 member A; dystonia 1, torsion (autosomal dominant; torsin A)
UniProt Protein Name
Torsin-1A
UniProt Synonym Protein Names
Dystonia 1 protein; Torsin ATPase-1A (EC:3.6.4.-); Torsin family 1 member A
UniProt Synonym Gene Names
UniProt Entry Name
TOR1A_HUMAN
NCBI Summary for TA
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]
UniProt Comments for TA
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.
Protein type: Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 9q34
Cellular Component: synaptic vesicle; nuclear membrane; transport vesicle; cytoplasmic vesicle membrane; growth cone; cytoskeleton; membrane; intracellular membrane-bound organelle; endoplasmic reticulum lumen; nuclear envelope; cell junction; secretory granule
Molecular Function: protein binding; kinesin binding; ATPase activity; unfolded protein binding; cytoskeletal protein binding; misfolded protein binding; ATP binding
Biological Process: protein deneddylation; chaperone cofactor-dependent protein folding; organelle organization and biogenesis; synaptic vesicle transport; regulation of dopamine uptake; intermediate filament cytoskeleton organization and biogenesis; response to oxidative stress; cell adhesion; nuclear membrane organization and biogenesis; protein homooligomerization; neurite development
Disease: Dystonia 1, Torsion, Autosomal Dominant
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Products associated with TA elisa kit
Pathways associated with TA elisa kit
Diseases associated with TA elisa kit
Organs/Tissues associated with TA elisa kit
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