TOR1A — Torsin family 1 member A
TOR1A belongs to a gene co-expression module in 3 of 28 SCUBA cell types. Each module groups genes that rise and fall together in that cell type; the genes it shares a module with are its closest co-expression partners there.
TOR1A's module in each cell type
| Cell type | Module | Shares the module with | |
|---|---|---|---|
| CD4⁺ T cells | Glycosylation & trafficking Protein processing & ER | AASDHPPT, ABHD12, ACTR1A, ANKRD35, AP1S1, ARRDC1, ATF6B, ATG5 +25 more | View in SCUBA |
| Innate lymphoid cells | Mitochondrial Metabolism Mitochondrial & OxPhos | ACTR10, ANP32A, APOL3, ATP6V1E1, ECHS1, ERCC1, ETFB, GLRX3 +12 more | View in SCUBA |
| Macrophages | ER Protein Processing Housekeeping | ACTR1A, ANXA7, ATP6AP1, ATP6AP2, ATP6V0B, ATP6V0E1, AUP1, BCAP31 +41 more | View in SCUBA |
About the gene
| Synonyms | DQ2, DYT1 |
|---|---|
| Chromosome | 9: 129812942-129824244 |
| Predicted location | Intracellular |
| Essential gene | No |
| Protein class | Disease related genes, Human disease related genes, Predicted intracellular proteins |
| Molecular function | Chaperone, Hydrolase |
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 with TOR1B in non- neural tissues.
Human Protein Atlas · Open Targets · UniProt
Gene annotation from the Human Protein Atlas and UniProt; see sources & licences.