HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ATXN1
ataxin 1
Chromosome 6 · 6p22.3
NCBI Gene: 6310Ensembl: ENSG00000124788.19HGNC: HGNC:10548UniProt: A0A2R8YCF3
171PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
identical protein bindingnegative regulation of DNA-templated transcriptionnuclear exportnucleusspinocerebellar ataxia type 1schizophreniaatrial fibrillationintelligence
✦AI Summary

ATXN1 (ataxin 1) is a chr6-binding factor that functions as a transcriptional corepressor in Notch signaling pathways. It acts as a CBF1 corepressor to suppress Notch-mediated transcription in the absence of Notch intracellular domain, binding to promoters like HEY and potentially assisting NCOR2 and RBPJ in transcriptional repression 1. ATXN1 also binds RNA in vitro and may participate in RNA metabolism, though its precise role remains incompletely defined. The protein is involved in brain development in concert with CIC and ATXN1L. Pathologically, ATXN1 is most notably associated with spinocerebellar ataxia type 1 (SCA1), a dominantly inherited neurodegenerative disease caused by CAG repeat expansion. Expanded ATXN1 causes dysfunctional calcium signaling in human motor neurons and alters critical transcriptional programs 2. Even subtle variations in wild-type ATXN1 expression levels contribute to ataxia, highlighting ATXN1 as a dosage-sensitive gene requiring precise transcriptional and posttranscriptional regulation, including miRNA-mediated control of 5' UTR sequences 3. ATXN1 variants are also detected in sporadic amyotrophic lateral sclerosis as risk factors 4, and ATXN1 is implicated as a cancer stemness gene in metastatic prostate cancer 5.

Sources cited
1
ATXN1 binds RNA in vitro and may be involved in RNA metabolism
PMID: 21475249
2
Expanded ATXN1 causes dysfunctional calcium signaling and transcriptional alterations in human motor neurons in SCA1
PMID: 39307401
3
Variations in wild-type ATXN1 levels lead to ataxia; ATXN1 is dosage-sensitive and regulated by miRNA-5'UTR interactions
PMID: 32873576
4
ATXN1 variants are detected as risk factors in sporadic amyotrophic lateral sclerosis
PMID: 37043475
5
ATXN1 is implicated as a cancer stemness gene in metastatic prostate cancer
PMID: 39879384
Disease Associationsⓘ21
spinocerebellar ataxia type 1Open Targets
0.55Moderate
schizophreniaOpen Targets
0.39Weak
atrial fibrillationOpen Targets
0.37Weak
intelligenceOpen Targets
0.37Weak
intestinal diseaseOpen Targets
0.34Weak
systemic lupus erythematosusOpen Targets
0.34Weak
multiple myelomaOpen Targets
0.33Weak
androgenetic alopeciaOpen Targets
0.33Weak
stomach diseaseOpen Targets
0.33Weak
VitiligoOpen Targets
0.32Weak
multiple sclerosisOpen Targets
0.32Weak
Back painOpen Targets
0.31Weak
BlindnessOpen Targets
0.29Weak
placenta praeviaOpen Targets
0.29Weak
Tip-toe gaitOpen Targets
0.29Weak
alopecia areataOpen Targets
0.28Weak
neurodegenerative diseaseOpen Targets
0.28Weak
atrial flutterOpen Targets
0.26Weak
cardiac arrhythmiaOpen Targets
0.25Weak
placental retentionOpen Targets
0.24Weak
Spinocerebellar ataxia 1UniProt
Pathogenic Variants1
NM_000332.4(ATXN1):c.589CAG[36_38] (p.Gln208[36_38])Pathogenic
Spinocerebellar ataxia type 1
☆☆☆☆2002→ Residue 208
View on ClinVar ↗
Related Genes
HSPA4Protein interaction100%UBQLN4Protein interaction99%NCOR2Protein interaction98%RBM17Protein interaction98%ATXN2Protein interaction97%PQBP1Protein interaction95%
Tissue Expression6 tissues
Brain
100%
Lung
76%
Heart
73%
Bone Marrow
70%
Ovary
56%
Liver
52%
Gene Interaction Network
Click a node to explore
ATXN1HSPA4UBQLN4NCOR2RBM17ATXN2PQBP1
PROTEIN STRUCTURE
Preparing viewer…
PDB1OA8 · 1.70 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.26Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.15 [0.09–0.26]
RankingsWhere ATXN1 stands among ~20K protein-coding genes
  • #2,572of 20,598
    Most Researched171 · top quartile
  • #4,751of 5,498
    Most Pathogenic Variants1
  • #868of 17,882
    Most Constrained (LOEUF)0.26 · top 5%
Genes detectedATXN1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Whole-genome landscape of adult T-cell leukemia/lymphoma.
PMID: 34695199
Blood · 2022
1.00
2
Regenerative potential of prostate luminal cells revealed by single-cell analysis.
PMID: 32355025
Science · 2020
0.90
3
CD81 Controls Beige Fat Progenitor Cell Growth and Energy Balance via FAK Signaling.
PMID: 32615086
Cell · 2020
0.80
4
Genetic variability in sporadic amyotrophic lateral sclerosis.
PMID: 37043475
Brain · 2023
0.70
5
Combined overexpression of ATXN1L and mutant ATXN1 knockdown by AAV rescue motor phenotypes and gene signatures in SCA1 mice.
PMID: 35573049
Mol Ther Methods Clin Dev · 2022
0.64