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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ATXN3L
ataxin 3 like
Chromosome X · Xp22.2
NCBI Gene: 92552Ensembl: ENSG00000123594.7HGNC: HGNC:24173UniProt: B4DYC7
13PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
ProteaseTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein deubiquitinationcysteine-type deubiquitinase activityproteasome-mediated ubiquitin-dependent protein catabolic processpositive regulation of ERAD pathwaybreast canceridiopathic pulmonary fibrosisautoimmune diseasetype II hypersensitivity reaction disease
✦AI Summary

ATXN3L (ataxin 3 like) is a deubiquitinating enzyme belonging to the Josephin family that cleaves both Lys-48-linked and Lys-63-linked polyubiquitin chains in vitro 1. The protein functions as a deubiquitinase for transcription factor KLF5, regulating KLF5 stability by directly binding to it and decreasing its ubiquitination and degradation 2. Mechanistically, ATXN3L demonstrates significantly higher catalytic efficiency compared to its paralog ataxin-3 despite 85% sequence identity, with structural studies revealing they bind ubiquitin at different overlapping sites 1. The enzyme shows disease relevance across multiple conditions: it promotes breast cancer cell proliferation through KLF5 stabilization 2, exhibits differential expression in premature ovarian failure models 3, and shows altered expression in Alzheimer's disease and chrX Chagas disease placentas 45. Clinically, ATXN3L represents a potential therapeutic target for breast cancer and may serve as a biomarker for various conditions 2. Additionally, as a paralog of the SCA3-associated ATXN3 gene, ATXN3L is being investigated as a natural replacement gene in gene editing strategies for spinocerebellar ataxia type 3 treatment 6.

Sources cited
1
ATXN3L cleaves Lys-48 and Lys-63-linked polyubiquitin chains and has higher catalytic efficiency than ataxin-3
PMID: 21118805
2
ATXN3L acts as a deubiquitinase for KLF5, regulating its stability and promoting breast cancer proliferation
PMID: 26079537
3
ATXN3L shows differential expression in premature ovarian failure models
PMID: 32143396
4
ATXN3L expression is altered in Alzheimer's disease
PMID: 38730027
5
ATXN3L is upregulated in placentas from chronic Chagas disease patients
PMID: 29545200
6
ATXN3L is being investigated as a replacement gene for SCA3 gene editing therapy
PMID: 40721863
Disease Associationsⓘ20
breast cancerOpen Targets
0.06Suggestive
idiopathic pulmonary fibrosisOpen Targets
0.06Suggestive
autoimmune diseaseOpen Targets
0.04Suggestive
immune system diseaseOpen Targets
0.04Suggestive
type II hypersensitivity reaction diseaseOpen Targets
0.04Suggestive
familial encephalopathy with neuroserpin inclusion bodiesOpen Targets
0.04Suggestive
Huntington diseaseOpen Targets
0.03Suggestive
amyotrophic lateral sclerosisOpen Targets
0.03Suggestive
amyotrophic lateral sclerosis type 15Open Targets
0.03Suggestive
familial amyotrophic lateral sclerosisOpen Targets
0.03Suggestive
progressive non-fluent aphasiaOpen Targets
0.03Suggestive
lung carcinomaOpen Targets
0.03Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
triple-negative breast cancerOpen Targets
0.01Suggestive
Spinocerebellar ataxia type 3Open Targets
0.01Suggestive
breast neoplasmOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
gastric carcinomaOpen Targets
0.00Suggestive
lymph node metastatic carcinomaOpen Targets
0.00Suggestive
testicular carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ITPR1Protein interaction100%ITPR2Protein interaction100%ITPR3Protein interaction100%BECN1Protein interaction100%ATXN2LProtein interaction100%RAD23BProtein interaction97%
Tissue Expression6 tissues
Brain
0%
Bone Marrow
0%
Heart
0%
Ovary
0%
Liver
0%
Lung
0%
Gene Interaction Network
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ATXN3LITPR1ITPR2ITPR3BECN1ATXN2LRAD23B
PROTEIN STRUCTURE
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PDB3O65 · 2.70 Å · X-ray
View on RCSB ↗
RankingsWhere ATXN3L stands among ~20K protein-coding genes
  • #16,099of 20,598
    Most Researched13
Genes detectedATXN3L
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Functional implications of paralog genes in polyglutamine spinocerebellar ataxias.
PMID: 37845370
Hum Genet · 2023
1.00
2
Gene editing for Spinocerebellar ataxia type 3 taking advantage of the human ATXN3L paralog as replacement gene.
PMID: 40721863
Gene Ther · 2025
0.90
3
Crystal structure of a Josephin-ubiquitin complex: evolutionary restraints on ataxin-3 deubiquitinating activity.
PMID: 21118805
J Biol Chem · 2011
0.80
4
Diagnostic implications of ubiquitination-related gene signatures in Alzheimer's disease.
PMID: 38730027
Sci Rep · 2024
0.70
5
Differential Expression of
PMID: 32143396
Int J Mol Sci · 2020
0.60