gene

TOR1A

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

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.

10Connections
0Hypotheses
0Analyses
4Outgoing
6Incoming

Summary

Page for TOR1A Gene

View on Wiki →

🧬 Gene Info
Gene SymbolTOR1A
Full NameTorsin-1A
Chromosome9q34.11
Functionis a glutamate deletion (ΔE302/303) that causes early-onset generalized dystonia (DYT1), one of the most common hereditary movement disorders [2](https://pubmed.
Subcellular LocalizationTorsin-1A exhibits distinctive subcellular localization:
Molecular Weight38 kDa
Amino Acids332 aa
UniProt ID[O95631](https://www.uniprot.org/uniprot/O95631)
Ensembl IDENSG00000136827
OMIM605204
GeneCardsTOR1A
Human Protein AtlasTOR1A
N-terminal domainSignal peptide directing ER localization
ATPase domainClassic AAA+Walker A (P-loop) and Walker B motifs
C-terminal regionInvolved in protein-protein interactions
Associated DiseasesAls
KG Connections10 knowledge graph edges
DatabasesGeneCardsNCBI GeneHPASTRING

Wiki Pages (10)

Knowledge base pages for this entity

Canonical Page

TOR1A Gene

gene · 3432 words

THAP1 Gene

gene · 2169 words

Dystonia

disease · 1513 words

ANO3 Gene

gene · 1397 words

Globus Pallidus Internus GABA Neurons

cell · 1140 words

TOR1A Protein

protein · 943 words

Pathway Diagram

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

    classDef gene fill:#1a3a2a,stroke:#4caf50,color:#e0e0e0
    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

Outgoing (4)

TargetRelationTypeStr
Alsassociated_withdisease0.65
Depressioncontributes_todisease0.65
Anxietycontributes_todisease0.65
Actincontributes_toprotein0.60

Incoming (6)

SourceRelationTypeStr
GCH1associated_withgene0.60
THAP1associated_withgene0.60
ANO3associated_withgene0.60
GNALassociated_withgene0.60
ANXIETYcontributes_togene0.60

Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

HypothesisScoreDiseaseAnalysis
No targeting hypotheses

Mentioning Analyses (0)

Scientific analyses that reference this entity

No analyses mention this entity

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMIDAuthorsJournalYearCitations
No papers found