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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ATXN1L
ataxin 1 like
Chromosome 16 · 16q22.2
NCBI Gene: 342371Ensembl: ENSG00000224470.10HGNC: HGNC:33279UniProt: P0C7T5
30PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmnucleolusprotein bindingbrain developmentneurodegenerative diseaseintelligenceureterolithiasisosteoarthritis, knee
✦AI Summary

ATXN1L (ataxin 1 like) functions as a chr16-binding transcriptional repressor that forms critical regulatory complexes with the transcriptional repressor CIC (Capicua). This ATXN1L-CIC complex serves as a key gatekeeper of cellular homeostasis by binding to promoter regions and preventing aberrant expression of inflammatory genes, including interferons and interferon-stimulated genes, under normal conditions 1. During viral infection, MAPK pathway activation leads to rapid degradation of the CIC-ATXN1L complex, allowing robust induction of antiviral responses 1. The complex also regulates extracellular matrix remodeling during development by repressing matrix metalloproteinase genes through control of ETV transcription factors 2. Loss of ATXN1L destabilizes CIC protein and leads to derepression of ETV4, causing developmental defects including lung alveolarization abnormalities and hydrocephalus 2. In cancer contexts, ATXN1L expression inversely correlates with resistance to MAPK pathway inhibitors, as loss of ATXN1L or CIC promotes cancer cell survival during treatment 3. Additionally, ATXN1L shows therapeutic potential in spinocerebellar ataxia type 1 (SCA1), where overexpression can improve motor phenotypes and normalize disease-associated gene expression changes 4. The protein demonstrates functional redundancy with ATXN1, particularly in brain development and transcriptional regulation 5.

Sources cited
1
ATXN1L-CIC complex acts as gatekeeper of interferon responses, preventing aberrant inflammatory gene expression under homeostasis and allowing antiviral responses during infection
PMID: 40132591
2
ATXN1L-CIC complexes regulate extracellular matrix remodeling and lung development by controlling matrix metalloproteinase gene expression through ETV transcription factors
PMID: 22014525
3
ATXN1L expression inversely correlates with MAPK inhibitor resistance in cancer, with loss promoting cancer cell survival during treatment
PMID: 28178529
4
ATXN1L overexpression improves motor phenotypes and normalizes gene expression in SCA1 mouse models
PMID: 35573049
5
ATXN1L shows functional redundancy with ATXN1 in brain development and may compensate for dysfunction in spinocerebellar ataxias
PMID: 37845370
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
intelligenceOpen Targets
0.15Weak
ureterolithiasisOpen Targets
0.10Weak
osteoarthritis, kneeOpen Targets
0.08Suggestive
HypercholesterolemiaOpen Targets
0.08Suggestive
abscessOpen Targets
0.08Suggestive
cellulitisOpen Targets
0.07Suggestive
goutOpen Targets
0.06Suggestive
PainOpen Targets
0.06Suggestive
attention deficit hyperactivity disorderOpen Targets
0.05Suggestive
autism spectrum disorderOpen Targets
0.05Suggestive
smoking initiationOpen Targets
0.05Suggestive
hydrocephalus, congenital communicating, 1Open Targets
0.05Suggestive
megalencephaly, autosomal dominantOpen Targets
0.05Suggestive
risk-taking behaviourOpen Targets
0.04Suggestive
craniofacial conodysplasiaOpen Targets
0.04Suggestive
Craniosynostosis - Dandy-Walker malformation - hydrocephalusOpen Targets
0.04Suggestive
craniosynostosis-Dandy-Walker malformation-hydrocephalus syndromeOpen Targets
0.04Suggestive
Congenital pulmonary alveolar proteinosisOpen Targets
0.03Suggestive
Neonatal acute respiratory distress with surfactant metabolism deficiencyOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CICProtein interaction98%NCOR2Protein interaction98%RBPJProtein interaction97%KAT5Protein interaction97%RBPJLProtein interaction97%PUM2Protein interaction97%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
30%
Brain
27%
Lung
25%
Ovary
21%
Liver
15%
Gene Interaction Network
Click a node to explore
ATXN1LCICNCOR2RBPJKAT5RBPJLPUM2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P0C7T5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.35Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.19 [0.11–0.35]
RankingsWhere ATXN1L stands among ~20K protein-coding genes
  • #11,858of 20,598
    Most Researched30
  • #1,511of 17,882
    Most Constrained (LOEUF)0.35 · top 10%
Genes detectedATXN1L
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
PMID: 28600779
Hum Genet · 2017
1.00
2
Novel ATXN1/ATXN1L::NUTM2A fusions identified in aggressive infant sarcomas with gene expression and methylation patterns similar to CIC-rearranged sarcoma.
PMID: 35836290
Acta Neuropathol Commun · 2022
0.90
3
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
0.80
4
Transcriptional repressor Capicua is a gatekeeper of cell-intrinsic interferon responses.
PMID: 40132591
Cell Host Microbe · 2025
0.70
5
Transcriptomic analysis of CIC and ATXN1L reveal a functional relationship exploited by cancer.
PMID: 30093628
Oncogene · 2019
0.60