TOR1A

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 Gene(Protein Coding) Torsin Family 1 Member A

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.

Biological Process cell adhesion Source:UniProtKB1 Publication
Biological Process chaperone cofactor-dependent protein refolding Source:InterPro
Biological Process chaperone-mediated protein folding Source:UniProtKB1 Publication
Biological Process ER-associated misfolded protein catabolic process Source:UniProtKB
Biological Process intermediate filament cytoskeleton organization Source:UniProtKB1 Publication
Biological Process neuron projection development Source:UniProtKB2 Publications
Biological Process nuclear envelope organization Source:UniProtKB
Biological Process nuclear membrane organization Source:UniProtKB
Biological Process organelle organization Source:UniProtKB
Biological Process positive regulation of synaptic vesicle endocytosis Source:UniProtKB1 Publication
Biological Process protein deneddylation Source:UniProtKB1 Publication
Biological Process protein localization to nucleus Source:UniProtKB1 Publication
Biological Process regulation of dopamine uptake involved in synaptic transmission Source:UniProtKB1 Publication
Biological Process regulation of protein localization to cell surface Source:GO_Central1 Publication
Biological Process response to oxidative stress Source:Ensembl
Biological Process synaptic vesicle membrane organization Source:UniProtKB1 Publication
Biological Process synaptic vesicle transport Source:UniProtKB1 Publication
Biological Process wound healing, spreading of cells Source:UniProtKB

Endoplasmic reticulum lumen
Nucleus membrane
Cell projection, growth cone
Cytoplasmic vesicle membrane
Cytoplasmic vesicle, secretory vesicle
Cytoplasmic vesicle, secretory vesicle, synaptic vesicle
Cytoplasm, cytoskeleton
Upon oxidative stress, redistributes to protusions from the cell surface (By similarity).
Peripherally associated with the inner face of the ER membrane, probably mediated by the interaction with TOR1AIP1. The association with nucleus membrane is mediated by the interaction with TOR1AIP2.

Dystonia 1, torsion, autosomal dominant (DYT1):
A primary torsion dystonia, and the most common and severe form. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 1 is characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body, in the absence of other neurological symptoms. Typically, symptoms develop first in an arm or leg in middle to late childhood and progress in approximately 30% of patients to other body regions (generalized dystonia) within about five years. 'Torsion' refers to the twisting nature of body movements observed in DYT1, often affecting the trunk. Distribution and severity of symptoms vary widely between affected individuals, ranging from mild focal dystonia to severe generalized dystonia, even within families.
Arthrogryposis multiplex congenita 5 (AMC5):
A form of arthrogryposis multiplex congenita, a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. AMC5 is an autosomal recessive form characterized by severe congenital contractures, developmental delay, strabismus and tremor.

N-glycosylated.