P54252.4
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UniProt Primary Accession #
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NCBI Official Full Name
Ataxin-3
UniProt Protein Name
Ataxin-3
UniProt Synonym Protein Names
Machado-Joseph disease protein 1; Spinocerebellar ataxia type 3 protein
UniProt Synonym Gene Names
UniProt Entry Name
ATX3_HUMAN
UniProt Comments for ATXN3
ataxin-3: Deubiquitinating enzyme involved in protein homeostasis maintenance, transcription, cytoskeleton regulation, myogenesis and degradation of misfolded chaperone substrates. Binds long polyubiquitin chains and trims them, while it has weak or no activity against chains of 4 or less ubiquitins. Involved in degradation of misfolded chaperone substrates via its interaction with STUB1/CHIP: recruited to monoubiquitinated STUB1/CHIP, and restricts the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain extension. In response to misfolded substrate ubiquitination, mediates deubiquitination of monoubiquitinated STUB1/CHIP. Interacts with key regulators of transcription and represses transcription: acts as a histone- binding protein that regulates transcription. Defects in ATXN3 are the cause of spinocerebellar ataxia type 3 (SCA3); also known as Machado-Joseph disease (MJD). Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA3 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. The molecular defect in SCA3 is the a CAG repeat expansion in ATXN3 coding region. Longer expansions result in earlier onset and more severe clinical manifestations of the disease. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: DNA repair, damage; Transcription regulation; EC 3.4.19.12; Ubiquitin-specific protease; Protease
Chromosomal Location of Human Ortholog: 14q21
Cellular Component: nucleoplasm; nuclear matrix; mitochondrial matrix; mitochondrial membrane; cytoplasm; nucleus; cytosol; nuclear inclusion body
Molecular Function: identical protein binding; protein binding; omega peptidase activity; ubiquitin protein ligase binding; ubiquitin-specific protease activity; ATPase binding
Biological Process: ubiquitin-dependent protein catabolic process; proteasomal ubiquitin-dependent protein catabolic process; nervous system development; synaptic transmission; transcription, DNA-dependent; regulation of transcription, DNA-dependent; nucleotide-excision repair; misfolded or incompletely synthesized protein catabolic process; intermediate filament cytoskeleton organization and biogenesis; microtubule cytoskeleton organization and biogenesis; actin cytoskeleton organization and biogenesis
Disease: Machado-joseph Disease
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Pathways associated with ATXN3 elisa kit
Diseases associated with ATXN3 elisa kit
Organs/Tissues associated with ATXN3 elisa kit
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