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 Tuesday, May 21, 2013.) 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.

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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]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Atxn3
  • participates in the following biological processes:
    • monoubiquitinated protein deubiquitination ^[7]
  • performs the following molecular functions:
    • ubiquitin thiolesterase activity ^[7]
    • ubiquitin-specific protease activity ^[7]
  • is located in the following cellular components:
    • cytoplasm ^{[1, 3, 4, 5]}
    • mitochondrial matrix ^[4]
    • mitochondrial membrane ^[4]
    • nuclear inclusion body ^[1]
    • nucleus ^{[3, 4, 5]}
• The gene product of Atxn3 has been shown to bind to the gene products of Vcp. ^[2] Researchers have inferred, based on physical interactions, that the gene product of Atxn3
  • performs the following molecular functions:
    • ubiquitin protein ligase binding ^[7]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Atxn3
  • participates in the following biological processes:
    • cellular response to heat ^[5]
    • cellular response to misfolded protein ^[7]
    • exploration behavior ^[8]
    • misfolded or incompletely synthesized protein catabolic process ^[7]
    • proteasomal ubiquitin-dependent protein catabolic process ^[7]
    • regulation of cell-substrate adhesion ^[6]
    • ubiquitin-dependent protein catabolic process ^[8]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Atxn3:
  • participates in the following biological processes:
    • actin cytoskeleton organization
    • intermediate filament cytoskeleton organization
    • microtubule cytoskeleton organization
    • regulation of cell-substrate adhesion
  • performs the following molecular functions:
    • histone deacetylase activity
    • RNA polymerase II regulatory region DNA binding
  • is located in the following cellular components:
    • nucleus

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Summary text based on GO annotations supported by structural data

• Atxn3 encodes a protein or proteins that contain the following InterPro domains: Machado-Joseph disease protein MJD, Ubiquitin interacting motif, indicating that the gene product:
  • performs the following molecular functions:
    • omega peptidase activity

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Atxn3 indicates that it:
  • participates in the following biological processes:
    • proteolysis
    • regulation of transcription, DNA-dependent
    • transcription, DNA-dependent
  • performs the following molecular functions:
    • cysteine-type peptidase activity
    • hydrolase activity
    • peptidase activity

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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)

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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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