Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about ATXN1: 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 | ATXN1 |
| Full Name | Ataxin 1 |
| Chromosome | 6p22.3 |
| Function | Capicua (CIC) repressor complex — Ataxin-1 binds to the transcriptional repressor CIC, regulating downstream target genes |
| Primary Expression | Purkinje cells, Cerebellum, Brainstem |
| Molecular Weight | 87 kDa |
| Amino Acids | 815 aa |
| Pathways | Notch signaling |
| UniProt ID | P54253 |
| NCBI Gene ID | 6310 |
| Ensembl ID | ENSG00000124788 |
| OMIM | 601556 |
| GeneCards | ATXN1 |
| Human Protein Atlas | ATXN1 |
| Associated Diseases | Ataxia, Huntington's disease, neurodegeneration |
| Interactions | BDNF, CIC, NEURON, PKA |
| KG Connections | 28 knowledge graph edges |
| Databases | GeneCardsHPASTRING |
Knowledge base pages for this entity
flowchart TD
ATXN1(["ATXN1"])
Ataxia["Ataxia"]
Neurodegeneration["Neurodegeneration"]
BDNF(["BDNF"])
CAG_REPEATS(["CAG REPEATS"])
NEURON(["NEURON"])
NEURODEGENERATION(["NEURODEGENERATION"])
neurodegeneration["neurodegeneration"]
ATXN1 -->|"causes"| Ataxia
ATXN1 -->|"expressed in"| Neurodegeneration
ATXN1 -->|"activates"| BDNF
ATXN1 -->|"causes"| CAG_REPEATS
ATXN1 -.->|"inhibits"| NEURON
NEURODEGENERATION -->|"expressed in"| ATXN1
BDNF -.->|"inhibits"| ATXN1
ATXN1 -->|"implicated in"| neurodegeneration
style ATXN1 fill:#1a237e,stroke:#4fc3f7,stroke-width:3px,color:#fff| Target | Relation | Type | Str |
|---|---|---|---|
| neurodegeneration | causes | disease | 0.90 |
| CIC | interacts_with | gene | 0.80 |
| Huntington's disease | causes | disease | 0.80 |
| neurons | expressed_in | cell_type | 0.80 |
| oxidative stress response | participates_in | pathway | 0.80 |
| Ataxia | causes | disease | 0.75 |
| ATXN2 | causes | gene | 0.70 |
| stem cells | expressed_in | cell_type | 0.70 |
| Neurodegeneration | expressed_in | disease | 0.65 |
| BDNF | activates | gene | 0.60 |
| ATXN2 | associated_with | gene | 0.60 |
| NIPA1 | associated_with | gene | 0.60 |
| UNC13A | associated_with | gene | 0.60 |
| neurodegeneration | interacts_with | disease | 0.60 |
| CIC | causes | gene | 0.60 |
| ATXN3 | causes | gene | 0.60 |
| RAN | expressed_in | gene | 0.60 |
| CAG REPEATS | causes | gene | 0.60 |
| NEURON | inhibits | gene | 0.60 |
| mitochondrial function | participates_in | pathway | 0.60 |
| apoptosis pathway | participates_in | pathway | 0.60 |
| PKA | phosphorylates | gene | 0.60 |
| PKA | regulates | gene | 0.60 |
| PKA | activates | gene | 0.60 |
| PKA | associated_with | gene | 0.60 |
| multiple sclerosis | regulates | disease | 0.60 |
| Source | Relation | Type | Str |
|---|---|---|---|
| BDNF | inhibits | gene | 0.60 |
| NEURODEGENERATION | expressed_in | gene | 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 | ||||