Property Summary

NCBI Gene PubMed Count 186
Grant Count 171
R01 Count 110
Funding $20,586,123.69
PubMed Score 721.61
PubTator Score 892.29

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis -1.100 0.010

Synonym

Accession P54252 A7LFZ5 D6RDL9 E9PB63 O15284 O15285 O15286 Q8N189 Q96TC3 Q96TC4 Q9H3N0
Symbols AT3
JOS
MJD
ATX3
MJD1
SCA3

Gene

PANTHER Protein Class (1)

PDB

2JRI   1YZB   2AGA   2DOS   2KLZ   4WTH   4YS9  

Gene RIF (155)

PMID Text
26880203 Ataxin-3 phosphorylation decreases neuronal defects in spinocerebellar ataxia type 3 models.
26808260 USP19_b up-regulates the protein levels of the polyglutamine (polyQ)-containing proteins, ataxin-3 (Atx3) and huntingtin (Htt), and thus promotes aggregation of their polyQ-expanded species in cell models
26266536 Based on these data and other related studies, we presumed that de novo mutations of ATXN3 emerging from large ANs are at least one survival mechanisms of mutational ATXN3 and we can redefine the range of CAG repeats as: ANs</=44, 45 </=AIs </=49 and AEs>/=50
26260925 polyglutamine expansion increases the molecular mobility of two juxtaposed helices critical to ataxin-3 deubiquitinase activity
26215704 Results suggest that the aggregation of Josephin proceeds from the monomer state to the formation of spheroidal intermediates with a native structure. Only successively, these intermediates evolve into misfolded aggregates and into the final fibrils.
26210447 Evaluated the level of truncated pathological recombinant Ataxin-3 in a Drosophila model, in presence or absence of two suppressors and during aging. Suppressing truncated Ataxin-3-induced toxicity lowered the level of aggregated polyglutamine protein.
26067219 This study did not find relationship between CAG expansion length and psychiatric disorders.
26037349 Wide type and polyQ-expanded ataxin-3 both showed partial co-localization to endoplasmic reticulum.
25869926 South American cohort did not confirm the effect of the four candidate loci as modifier of onset age: mithocondrial A10398G polymorphism and CAGn at RAI1, CACNA1A, ATXN3, and ATXN7 genes
25700012 A multistage aggregation mechanism for ataxin-3 is described in which flanking domain self-assembly precedes polyglutamine aggregation yet is influenced by polyglutamine expansion.
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AA Sequence

MESIFHEKQEGSLCAQHCLNNLLQGEYFSPVELSSIAHQLDEEERMRMAEGGVTSEDYRTFLQQPSGNMD      1 - 70
DSGFFSIQVISNALKVWGLELILFNSPEYQRLRIDPINERSFICNYKEHWFTVRKLGKQWFNLNSLLTGP     71 - 140
ELISDTYLALFLAQLQQEGYSIFVVKGDLPDCEADQLLQMIRVQQMHRPKLIGEELAQLKEQRVHKTDLE    141 - 210
RVLEANDGSGMLDEDEEDLQRALALSRQEIDMEDEEADLRRAIQLSMQGSSRNISQDMTQTSGTNLTSEE    211 - 280
LRKRREAYFEKQQQKQQQQQQQQQQGDLSGQSSHPCERPATSSGALGSDLGKACSPFIMFATFTLYLTYE    281 - 350
LHVIFALHYSSFPL                                                            351 - 364
//

Text Mined References (190)

PMID Year Title
26880203 2016 Ataxin-3 phosphorylation decreases neuronal defects in spinocerebellar ataxia type 3 models.
26808260 2016 Cytoplasmic Ubiquitin-Specific Protease 19 (USP19) Modulates Aggregation of Polyglutamine-Expanded Ataxin-3 and Huntingtin through the HSP90 Chaperone.
26266536 2015 Population genetics and new insight into range of CAG repeats of spinocerebellar ataxia type 3 in the Han Chinese population.
26260925 2015 Enhanced molecular mobility of ordinarily structured regions drives polyglutamine disease.
26215704 2015 Infrared nanospectroscopy characterization of oligomeric and fibrillar aggregates during amyloid formation.
26210447 2015 Quantification of Ataxin-3 and Ataxin-7 aggregates formed in vivo in Drosophila reveals a threshold of aggregated polyglutamine proteins associated with cellular toxicity.
26067219 2015 Psychiatric disorders, spinocerebellar ataxia type 3 and CAG expansion.
26037349 2015 [Subcellular localization of ataxin-3 and its effect on the morphology of cytoplasmic organoids].
26002199 2015 The Repeat Expansion Diseases: The dark side of DNA repair.
25869926 2015 ATXN3, ATXN7, CACNA1A, and RAI1 Genes and Mitochondrial Polymorphism A10398G Did Not Modify Age at Onset in Spinocerebellar Ataxia Type 2 Patients from South America.
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