TOR1A Antibody – Rabbit Polyclonal

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: 9q34.11

Cellular Component: cytoplasmic vesicle membrane; endoplasmic reticulum; endoplasmic reticulum lumen; growth cone; membrane; nuclear envelope; 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