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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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ATXN3
ataxin 3
Chromosome 14 Β· 14q32.12
NCBI Gene: 4287Ensembl: ENSG00000066427.25HGNC: HGNC:7106UniProt: A0A0A0MS38
332PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
ProteaseTranscription Factor
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein K63-linked deubiquitinationprotein K48-linked deubiquitinationcysteine-type deubiquitinase activitynegative regulation of TORC1 signalingMachado-Joseph diseaseSpinocerebellar ataxia type 3Machado-Joseph disease type 3Machado-Joseph disease type 2
✦AI Summary

ATXN3 (ataxin 3) is a deubiquitinating enzyme that plays critical roles in protein homeostasis, transcriptional regulation, and cellular stress responses 1. As a deubiquitinase, ATXN3 specifically targets K48-K63-branched ubiquitin chains and facilitates lysosome regeneration after membrane damage by promoting degradation of LAMP2 through microautophagy 2. ATXN3 functions as a debranching enzyme for complex ubiquitin chains, working alongside VCP/p97-associated proteins 3. The protein exhibits tissue-specific tumor regulatory functions: in colon adenocarcinoma, ATXN3 acts as a tumor suppressor by stabilizing Galectin-9 through deubiquitination, thereby promoting cancer cell apoptosis 4. Conversely, ATXN3 promotes tumor immune evasion in other cancers by functioning as a positive regulator of PD-L1 transcription through deubiquitination of transcription factors including JunB 5. Clinically, CAG trinucleotide repeat expansion in the ATXN3 gene causes spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, which may be the most common dominantly inherited ataxia worldwide 6. This polyglutamine expansion leads to protein misfolding and accumulation, characteristic of polyglutamine neurodegenerative diseases 6.

Sources cited
1
ATXN3 is a deubiquitinating enzyme involved in proteostasis, DNA repair and transcriptional regulation
PMID: 39320846
2
ATXN3 targets K48-K63-branched ubiquitin chains and facilitates lysosome regeneration after damage
PMID: 40730717
3
ATXN3 functions as a debranching enzyme for complex ubiquitin chains, working with VCP/p97-associated proteins
PMID: 38977901
4
ATXN3 acts as tumor suppressor in colon cancer by stabilizing Galectin-9 through deubiquitination
PMID: 38815863
5
ATXN3 promotes PD-L1 transcription and tumor immune evasion through deubiquitination of transcription factors
PMID: 38038129
6
CAG expansion in ATXN3 causes SCA3/Machado-Joseph disease, the most common dominantly inherited ataxia
PMID: 21827905
Disease Associationsβ“˜21
Machado-Joseph diseaseOpen Targets
0.60Moderate
Spinocerebellar ataxia type 3Open Targets
0.56Moderate
Machado-Joseph disease type 1Open Targets
0.37Weak
Machado-Joseph disease type 2Open Targets
0.37Weak
Machado-Joseph disease type 3Open Targets
0.37Weak
Abnormality of the skeletal systemOpen Targets
0.37Weak
genetic disorderOpen Targets
0.19Weak
Parkinson diseaseOpen Targets
0.19Weak
Hereditary late-onset Parkinson diseaseOpen Targets
0.18Weak
late-onset Parkinson diseaseOpen Targets
0.18Weak
Tip-toe gaitOpen Targets
0.12Weak
neoplasmOpen Targets
0.11Weak
B-cell acute lymphoblastic leukemiaOpen Targets
0.10Weak
cancerOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
epilepsyOpen Targets
0.08Suggestive
glioblastoma multiformeOpen Targets
0.08Suggestive
cervical cancerOpen Targets
0.07Suggestive
malignant colon neoplasmOpen Targets
0.07Suggestive
Nijmegen breakage syndromeOpen Targets
0.07Suggestive
Spinocerebellar ataxia 3UniProt
Pathogenic Variants3
NM_004993.6(ATXN3):c.916_917insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC (p.Gly306fs)Likely pathogenic
Azorean disease
β˜…β˜†β˜†β˜†2023β†’ Residue 306
NM_004993.5(ATXN3):c.886_888CAG(60_86) (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)Pathogenic
Azorean disease
β˜†β˜†β˜†β˜†2015β†’ Residue 305
NM_004993.6(ATXN3):c.892CAG[8_36]Pathogenic
Azorean disease|Parkinson disease, late-onset
β˜†β˜†β˜†β˜†1994
View on ClinVar β†—
Related Genes
NPLOC4Protein interaction100%ITPR1Protein interaction100%ITPR2Protein interaction100%ITPR3Protein interaction100%FOXO4Protein interaction98%UBQLN1Protein interaction98%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
82%
Brain
79%
Lung
66%
Liver
50%
Heart
38%
Gene Interaction Network
Click a node to explore
ATXN3NPLOC4ITPR1ITPR2ITPR3FOXO4UBQLN1
PROTEIN STRUCTURE
Preparing viewer…
PDB4YS9 Β· 2.00 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.58Moderately Constrained
pLIβ“˜
0.63Intermediate
Observed/Expected LoF0.38 [0.26–0.58]
RankingsWhere ATXN3 stands among ~20K protein-coding genes
  • #979of 20,598
    Most Researched332 Β· top 5%
  • #3,909of 5,498
    Most Pathogenic Variants3
  • #3,881of 17,882
    Most Constrained (LOEUF)0.58 Β· top quartile
Genes detectedATXN3
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Machado-Joseph disease/spinocerebellar ataxia type 3.
PMID: 21827905
Handb Clin Neurol Β· 2012
1.00
2
CRISPR screening identifies the deubiquitylase ATXN3 as a PD-L1-positive regulator for tumor immune evasion.
PMID: 38038129
J Clin Invest Β· 2023
0.90
3
ATXN3: a multifunctional protein involved in the polyglutamine disease spinocerebellar ataxia type 3.
PMID: 39320846
Expert Rev Mol Med Β· 2024
0.80
4
ATXN3 functions as a tumor suppressor through potentiating galectin-9-mediated apoptosis in human colon adenocarcinoma.
PMID: 38815863
J Biol Chem Β· 2024
0.70
5
Gene editing as a therapeutic strategy for spinocerebellar ataxia type-3.
PMID: 38580500
Rev Neurol (Paris) Β· 2024
0.68