| Gene Symbol |
TOR1A
|
| Entrez Gene |
1861
|
| Alt Symbol |
DQ2, DYT1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
torsin family 1, member A (torsin A)
|
| Other Description |
dystonia 1 protein|dystonia 1, torsion (autosomal dominant; torsin A)|torsin ATPase 1|torsin ATPase-1A|torsin family 1 member A|torsin-1A
|
| Swissprots |
B2RB58 O14656 Q53Y64 Q96CA0
|
| Accessions |
EAW87907 EAW87908 O14656 AF007871 AAC51732 AK056062 BAG51613 AK075343 AK130769 AK294677 BAG57840 AK314505 BAG37105 AU098588 BC000674 AAH00674 BC014484 AAH14484 BT006931 AAP35577 BU790507 DQ892657 ABM83583 DQ895897 ABM86823 XR_929731 NM_000113 NP_000104
|
| Function |
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
|
| Subcellular Location |
Endoplasmic reticulum lumen. Nucleus membrane; Peripheral membrane protein. Cell projection, growth cone {ECO:0000250}. Cytoplasmic vesicle membrane {ECO:0000250}. Cytoplasmic vesicle, secretory vesicle {ECO:0000250}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle. Cytoplasm, cytoskeleton. Note=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. {ECO:0000250}.
|
| Tissue Specificity |
Widely expressed. Highest levels in kidney and liver. 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 highly expressed in the spinal cord. {ECO:0000269|PubMed:10640617, ECO:0000269|PubMed:14970196, ECO:0000269|PubMed:15147511}.
|