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

GO curators for mouse genes have assigned the following annotations to the gene product of Atxn7. (This text reflects annotations as of Wednesday, January 23, 2013.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of April 8, 2008. 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.] The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the 'pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. This locus has been mapped to chromosome 3, and it has been determined that the diseased allele associated with spinocerebellar ataxia-7 contains 38-130 CAG repeats (near the N-terminus), compared to 7-17 in the normal allele. The encoded protein is a component of the SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free TAF-containing (TFTC) chromatin remodeling complexes, and it thus plays a role in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]

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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 Atxn7
  • performs the following molecular functions:
    • chromatin binding ^[1]
  • is located in the following cellular components:
    • cytoplasm ^[3]
    • nucleus ^{[1, 3]}
• The gene product of Atxn7 has been shown to bind to the gene products of Crx. ^[1]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Atxn7
  • participates in the following biological processes:
    • negative regulation of insulin-like growth factor receptor signaling pathway ^[2]
    • negative regulation of phosphorylation ^[2]
    • positive regulation of transcription from RNA polymerase II promoter ^[2]

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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 Atxn7:
  • participates in the following biological processes:
    • histone deubiquitination
    • microtubule cytoskeleton organization
  • is located in the following cellular components:
    • cytoplasm
    • microtubule cytoskeleton
    • nucleus

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Summary text based on GO annotations supported by structural data

• Atxn7 encodes a protein or proteins that contain the following InterPro domains: SCA7 domain, Zinc finger, C2H2-like, indicating that the gene product:
  • performs the following molecular functions:
    • zinc ion binding
  • is located in the following cellular components:
    • intracellular

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Atxn7 indicates that it:
  • participates in the following biological processes:
    • regulation of transcription, DNA-dependent
    • transcription, DNA-dependent
  • is located in the following cellular components:
    • cytoskeleton

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References

1. Chen S et al. (2004) Interference of Crx-dependent transcription by ataxin-7 involves interaction between the glutamine regions and requires the ataxin-7 carboxy-terminal region for nuclear localization. Hum Mol Genet, 13:53-67. (PubMed:14613968)
2. Gatchel JR et al. (2008) The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7. Proc Natl Acad Sci U S A, 105:1291-6. (PubMed:18216249)
3. Strom AL et al. (2002) Cloning and expression analysis of the murine homolog of the spinocerebellar ataxia type 7 (SCA7) gene. Gene, 285:91-9. (PubMed:12039035)

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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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