Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about TOR1A: 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 | TOR1A |
| Full Name | Torsin-1A |
| Chromosome | 9q34.11 |
| Function | is a glutamate deletion (ΔE302/303) that causes early-onset generalized dystonia (DYT1), one of the most common hereditary movement disorders [2](https://pubmed. |
| Subcellular Localization | Torsin-1A exhibits distinctive subcellular localization: |
| Molecular Weight | 38 kDa |
| Amino Acids | 332 aa |
| UniProt ID | [O95631](https://www.uniprot.org/uniprot/O95631) |
| Ensembl ID | ENSG00000136827 |
| OMIM | 605204 |
| GeneCards | TOR1A |
| Human Protein Atlas | TOR1A |
| N-terminal domain | Signal peptide directing ER localization |
| ATPase domain | Classic AAA+Walker A (P-loop) and Walker B motifs |
| C-terminal region | Involved in protein-protein interactions |
| Associated Diseases | Als |
| KG Connections | 10 knowledge graph edges |
| Databases | GeneCardsNCBI GeneHPASTRING |
Knowledge base pages for this entity
flowchart TD
N0["TOR1A"]
N1["Als"]
N0 -->|"associated with"| N1
N2["Depression"]
N0 -->|"contributes to"| N2
N3["Anxiety"]
N0 -->|"contributes to"| N3
N4["Actin"]
N0 -->|"contributes to"| N4
N5["GCH1"]
N5 -->|"associated with"| N0
N6["THAP1"]
N6 -->|"associated with"| N0
N7["ANO3"]
N7 -->|"associated with"| N0
N8["ANXIETY"]
N8 -->|"contributes to"| N0
N9["GNAL"]
N9 -->|"associated with"| N0
N10["DEPRESSION"]
N10 -->|"contributes to"| N0
N11["neurodegeneration"]
N0 -->|"implicated in"| N11
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classDef protein fill:#1a2a3a,stroke:#4fc3f7,color:#e0e0e0
classDef disease fill:#3a1a1a,stroke:#ef5350,color:#e0e0e0
classDef pathway fill:#2a1a3a,stroke:#ce93d8,color:#e0e0e0
classDef mechanism fill:#2a2a1a,stroke:#ffd54f,color:#e0e0e0
class N1 disease
class N2 disease
class N3 disease
class N4 protein
class N5 gene
class N6 gene
class N7 gene
class N8 gene
class N9 gene
class N10 gene| Target | Relation | Type | Str |
|---|---|---|---|
| Als | associated_with | disease | 0.65 |
| Depression | contributes_to | disease | 0.65 |
| Anxiety | contributes_to | disease | 0.65 |
| Actin | contributes_to | protein | 0.60 |
Hypotheses where this entity is a therapeutic target
| Hypothesis | Score | Disease | Analysis |
|---|---|---|---|
| No targeting hypotheses | |||
Scientific analyses that reference this entity
No analyses mention this entity
Scientific publications cited in analyses involving this entity
| Title & PMID | Authors | Journal | Year | Citations |
|---|---|---|---|---|
| No papers found | ||||