Gene Gene information from NCBI Gene database.
Entrez ID 4287
Gene name Ataxin 3
Gene symbol ATXN3
Synonyms (NCBI Gene)
AT3ATX3JOSMJDMJD1SCA3
Chromosome 14
Chromosome location 14q32.12
Summary Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 12-44 to 52-86
miRNA miRNA information provided by mirtarbase database.
868
miRTarBase ID miRNA Experiments Reference
MIRT720560 hsa-miR-377-5p HITS-CLIP 19536157
MIRT720559 hsa-miR-6086 HITS-CLIP 19536157
MIRT720558 hsa-miR-6499-3p HITS-CLIP 19536157
MIRT512227 hsa-miR-3689d HITS-CLIP 19536157
MIRT512226 hsa-miR-6851-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
83
GO ID Ontology Definition Evidence Reference
GO:0000226 Process Microtubule cytoskeleton organization IMP 20637808
GO:0002181 Process Cytoplasmic translation IDA 8706699, 34314702
GO:0004843 Function Cysteine-type deubiquitinase activity IBA
GO:0004843 Function Cysteine-type deubiquitinase activity IDA 33157014
GO:0004843 Function Cysteine-type deubiquitinase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607047 7106 ENSG00000066427
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P54252
Protein name Ataxin-3 (EC 3.4.19.12) (Machado-Joseph disease protein 1) (Spinocerebellar ataxia type 3 protein)
Protein function Deubiquitinating enzyme involved in protein homeostasis maintenance, transcription, cytoskeleton regulation, myogenesis and degradation of misfolded chaperone substrates (PubMed:12297501, PubMed:16118278, PubMed:17696782, PubMed:23625928, PubMed
PDB 1YZB , 2AGA , 2DOS , 2JRI , 2KLZ , 4WTH , 4YS9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02099 Josephin 9 166 Josephin Family
PF02809 UIM 224 239 Ubiquitin interaction motif Motif
PF02809 UIM 244 260 Ubiquitin interaction motif Motif
PF16619 SUIM_assoc 263 329 Disordered
PF02809 UIM 335 350 Ubiquitin interaction motif Motif
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
Sequence length 361
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Protein processing in endoplasmic reticulum
Spinocerebellar ataxia
Pathways of neurodegeneration - multiple diseases
  Josephin domain DUBs
FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
23
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Azorean disease Pathogenic rs193922928 RCV000003729
Parkinson disease, late-onset Pathogenic rs193922928 RCV000003730
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ATXN3-related disorder Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity rs201992162, rs16999141, rs12896589, rs12896588, rs12896583, rs12895357, rs775879957, rs144506566, rs193922928, rs1555397115, rs142148800, rs763461489 RCV003928854
RCV003975008
RCV003925126
RCV003925127
RCV003925128
RCV003925129
RCV003916835
RCV003943952
RCV003972103
RCV003937224
RCV003969352
RCV003983053
Malignant lymphoma, large B-cell, diffuse Benign rs1048755 RCV005887978
Sarcoma Uncertain significance rs201992162 RCV005911191
Squamous cell carcinoma of the head and neck Benign rs1048755 RCV005887977
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 33477953
Adenylate Kinase Deficiency Hemolytic Anemia Due To Associate 10855623
Alzheimer Disease Inhibit 32745980
Amyotrophic Lateral Sclerosis Associate 33541344, 36737438
Aphasia Broca Associate 22023810
Apraxia oculomotor Cogan type Associate 30920184
Ataxia Associate 11804332, 18160752, 30920184, 33106888, 34087977, 37592453
Ataxia Stimulate 20069235
Autonomic Nervous System Diseases Associate 38233440
Brain Diseases Associate 36737438, 39456985