Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about DYT1: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.
| Gene Symbol | DYT1 / TOR1A |
| Full Name | Torsin Family 1 Member A |
| Chromosome | 9q34.2 |
| Function | DYT1 (also known as TOR1A) encodes torsin-1A, an AAA+ ATPase family member located primarily in the endoplasmic reticulum and nuclear envelope. |
| Primary Expression | the brain with highest levels in: - Basal ganglia (caudate nucleus, putamen) - Cerebellum (Purkinje cells) - Cortex (layers II-III, V) - [Hippocampus] |
| Subcellular Localization | the endoplasmic reticulum and nuclear envelope. Mutations in DYT1 cause early-onset generalized dystonia (DYT1 dystonia) |
| UniProt ID | Q9UHD8 |
| NCBI Gene ID | 1896 |
| Ensembl ID | ENSG00000136827 |
| OMIM | 605204 |
| Encoded Protein | Torsin-1A |
| Associated Diseases | neurodegeneration |
| Databases | GeneCardsHPASTRING |
Knowledge base pages for this entity
graph TD
DYT1["DYT1"]
neurodegeneration["neurodegeneration"]
DYT1 -->|"implicated_in"| neurodegeneration
style DYT1 fill:#4a1a6b,stroke:#4fc3f7,stroke-width:2px,color:#e0e0e0| Target | Relation | Type | Str |
|---|---|---|---|
| No outgoing edges | |||
| Source | Relation | Type | Str |
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| No incoming edges | |||
Hypotheses where this entity is a therapeutic target
| Hypothesis | Score | Disease | Analysis |
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| No targeting hypotheses | |||
Scientific analyses that reference this entity
No analyses mention this entity
Experimental studies targeting or related to this entity
| Experiment | Type | Disease | Score | Feasibility | Model | Status | Est. Cost |
|---|---|---|---|---|---|---|---|
| No experiments found | |||||||
Scientific publications cited in analyses involving this entity
| Title & PMID | Authors | Journal | Year | Citations |
|---|---|---|---|---|
| No papers found | ||||