ATXN3
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1YZB, 2AGA, 2DOS, 2JRI, 2KLZ, 4WTH, 4YS9
Identifiers
Aliases	ATXN3, AT3, ATX3, JOS, MJD, MJD1, SCA3, Ataxin 3
External IDs	OMIM: 607047 MGI: 1099442 HomoloGene: 3658 GeneCards: ATXN3
Gene location (Human) Chr. Chromosome 14 (human)[1] Band 14q32.12 Start 92,044,496 bp[1] End 92,106,621 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12|12 E Start 101,918,901 bp[2] End 101,958,246 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon endothelial cell sural nerve monocyte pericardium right uterine tube Brodmann area 23 saphenous vein skin of abdomen corpus callosum Top expressed in spermatid morula superior cervical ganglion aortic valve ascending aorta interventricular septum cumulus cell spermatocyte hand pineal gland More reference expression data BioGPS More reference expression data
Gene ontology Molecular function Lys63-specific deubiquitinase activity cysteine-type peptidase activity ATPase binding Lys48-specific deubiquitinase activity peptidase activity protein binding identical protein binding hydrolase activity thiol-dependent deubiquitinase ubiquitin protein ligase binding histone deacetylase activity Cellular component endoplasmic reticulum membrane nuclear matrix nucleoplasm nucleus nucleolus cytosol plasma membrane cytoplasm mitochondrial matrix mitochondrial membranes nuclear inclusion body Biological process nucleotide-excision repair regulation of transcription, DNA-templated protein K48-linked deubiquitination positive regulation of ERAD pathway transcription, DNA-templated nervous system development proteolysis protein K63-linked deubiquitination intermediate filament cytoskeleton organization protein localization to cytosolic proteasome complex involved in ERAD pathway microtubule cytoskeleton organization actin cytoskeleton organization chemical synaptic transmission protein deubiquitination ubiquitin-dependent protein catabolic process protein quality control for misfolded or incompletely synthesized proteins regulation of cell-substrate adhesion cellular response to heat monoubiquitinated protein deubiquitination proteasome-mediated ubiquitin-dependent protein catabolic process cellular response to misfolded protein exploration behavior histone H3 deacetylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4287 110616 Ensembl ENSG00000066427 ENSMUSG00000021189 UniProt P54252 Q4VBR4 Q9CVD2 RefSeq (mRNA) NM_001024631 NM_001127696 NM_001127697 NM_001164774 NM_001164776 NM_001164777 NM_001164778 NM_001164779 NM_001164780 NM_001164781 NM_001164782 NM_004993 NM_030660 NM_001167914 NM_029705 RefSeq (protein) NP_001121168 NP_001121169 NP_001158246 NP_001158248 NP_001158249 NP_001158250 NP_001158251 NP_001158252 NP_001158253 NP_001158254 NP_004984 NP_109376 NP_001161386 NP_083981 Location (UCSC) Chr 14: 92.04 – 92.11 Mb Chr 12: 101.92 – 101.96 Mb PubMed search [3] [4]
Wikidata
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Ataxin-3 is a protein that in humans is encoded by the ATXN3 gene.^[5][6]

Clinical significance

Machado–Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by the ATXN3 gene contains CAG repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is the cause of Machado–Joseph disease. This disorder is thus a trinucleotide repeat disorder type I known as a polyglutamine (PolyQ) disease. There is an inverse correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.^[6]

Interactions

Ataxin 3 has been shown to interact with:

• RAD23A,^[7]
• RAD23B,^[7] and
• VCP.^[8][9]