| Gene Information | |
|---|---|
| Gene Name | DYT1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 332 |
| Protein Names | Torsin-1A (Dystonia 1 protein) (Torsin ATPase-1A) (EC 3.6.4.-) (Torsin family 1 member A) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | O14656 |
| Gene Card | TOR1A |
| Uniprot ID | O14656 |
| Pfam | PF06309 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| 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}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.007657(Rat);NULL(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 5J1S (X-ray 1.40A ) 5J1T (X-ray 1.40A ) 6OIF (EM 4.40A ) |
| DBSNP | rs267607134 rs1801968 rs727502811 rs80358233 rs2030965698 rs80358235 |
| Subcellular location [CC] | Endoplasmic reticulum lumen {ECO:0000269|PubMed:29053766}. Nucleus membrane {ECO:0000269|PubMed:14970196, ECO:0000269|PubMed:29053766}; Peripheral membrane protein {ECO:0000305}. 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}. |
| Mouse PG classification | NA |
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