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Gene Ontology Classifications
Symbol
Name
ID
Atxn3
ataxin 3
MGI:1099442

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Atxn3. (This text reflects annotations as of Thursday, January 16, 2014.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of November 14, 2011. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.
Summary from NCBI RefSeq


[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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 13-36 to 68-79 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2009]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
References
  1. Bichelmeier U et al. (2007) Nuclear localization of ataxin-3 is required for the manifestation of symptoms in SCA3: in vivo evidence. J Neurosci, 27:7418-28. (PubMed:17626202)
  2. Boeddrich A et al. (2006) An arginine/lysine-rich motif is crucial for VCP/p97-mediated modulation of ataxin-3 fibrillogenesis. EMBO J, 25:1547-58. (PubMed:16525503)
  3. Pastori V et al. (2010) CK2 and GSK3 phosphorylation on S29 controls wild-type ATXN3 nuclear uptake. Biochim Biophys Acta, 1802:583-92. (PubMed:20347968)
  4. Pozzi C et al. (2008) Study of subcellular localization and proteolysis of ataxin-3. Neurobiol Dis, 30:190-200. (PubMed:18353661)
  5. Reina CP et al. (2010) Proteotoxic stress increases nuclear localization of ataxin-3. Hum Mol Genet, 19:235-49. (PubMed:19843543)
  6. Rodrigues AJ et al. (2010) Absence of ataxin-3 leads to cytoskeletal disorganization and increased cell death. Biochim Biophys Acta, 1803:1154-63. (PubMed:20637808)
  7. Scaglione KM et al. (2011) Ube2w and ataxin-3 coordinately regulate the ubiquitin ligase CHIP. Mol Cell, 43:599-612. (PubMed:21855799)
  8. Schmitt I et al. (2007) Inactivation of the mouse Atxn3 (ataxin-3) gene increases protein ubiquitination. Biochem Biophys Res Commun, 362:734-9. (PubMed:17764659)



Go Annotations in Tabular Form (Text View) (GO Graph)

 
 


Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IMP Inferred from mutant phenotype
  IPI Inferred from physical interaction
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory