Torsin Family 1 Member A (TOR1A) Human Recombinant Protein

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]

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; cytoskeleton; growth cone; membrane; intracellular membrane-bound organelle; endoplasmic reticulum lumen; nuclear envelope; cell junction; secretory granule

Molecular Function: protein binding; kinesin binding; ATPase activity; cytoskeletal protein binding; unfolded 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; neurite development; nuclear membrane organization and biogenesis; protein homooligomerization

Disease: Dystonia 1, Torsion, Autosomal Dominant