gene

THAP1

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about THAP1: 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.

8Connections
0Hypotheses
0Analyses
7Outgoing
1Incoming

Summary

THAP1 encodes a zinc finger transcription factor (THAP1) involved in cell cycle control, apoptosis, and neuronal function. THAP1 mutations cause Dystonia 6 (DYT6), a form of autosomal dominant dystonia with prominent craniocervical involvement.

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🧬 Gene Info
Gene SymbolTHAP1
Full NameTHAP Domain Containing 1
Chromosome8p21.2
Protein TypeTranscription Factor
Functionencodes a zinc finger transcription factor belonging to the THAP (THANATOS-associated protein) family.
Primary ExpressionBrain, testis, blood, endothelium
Amino Acids342 aa
Exons11
UniProt IDQ9NVX4
NCBI Gene ID55145
GeneCardsTHAP1
Human Protein AtlasTHAP1
Associated DiseasesAls
KG Connections8 knowledge graph edges
DatabasesGeneCardsHPASTRING
🔮 Predicted Structure: THAP1 — AlphaFold Q9NVX4 Click to expand

AI-predicted structure from AlphaFold | Powered by Mol*

Wiki Pages (4)

Knowledge base pages for this entity

Canonical Page

THAP1 Gene

gene · 2169 words

Dopamine Neurons in Dopamine-Responsive Dystonia

cell · 1586 words

Dystonia

disease · 1513 words

Genes

index · 271 words

Pathway Diagram

flowchart TD
    N0["THAP1"]
    N1["Als"]
    N0 -->|"associated with"| N1
    N2["ANO3"]
    N0 -->|"associated with"| N2
    N3["ANXIETY"]
    N0 -->|"contributes to"| N3
    N4["GNAL"]
    N0 -->|"associated with"| N4
    N5["DEPRESSION"]
    N0 -->|"contributes to"| N5
    N6["TOR1A"]
    N0 -->|"associated with"| N6
    N7["Actin"]
    N0 -->|"contributes to"| N7
    N8["GCH1"]
    N8 -->|"associated with"| N0
    N9["neurodegeneration"]
    N0 -->|"implicated in"| N9

    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 gene
    class N3 gene
    class N4 gene
    class N5 gene
    class N6 gene
    class N7 protein
    class N8 gene

Outgoing (7)

TargetRelationTypeStr
Alsassociated_withdisease0.65
ANO3associated_withgene0.60
GNALassociated_withgene0.60
TOR1Aassociated_withgene0.60
ANXIETYcontributes_togene0.60

Incoming (1)

SourceRelationTypeStr
GCH1associated_withgene0.60

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