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

GO curators for mouse genes have assigned the following annotations to the gene product of Aptx. (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 March 7, 2007. 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.] This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 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 Aptx
  • participates in the following biological processes:
    • DNA ligation ^[1]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Aptx
  • participates in the following biological processes:
    • single strand break repair ^[1]
  • performs the following molecular functions:
    • DNA 5'-adenosine monophosphate hydrolase activity ^[1]

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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 Aptx:
  • participates in the following biological processes:
    • double-strand break repair
    • regulation of protein stability
    • response to DNA damage stimulus
    • response to hydrogen peroxide
    • single strand break repair
  • performs the following molecular functions:
    • chromatin binding
    • damaged DNA binding
    • DNA 5'-adenosine monophosphate hydrolase activity
    • double-stranded DNA binding
    • double-stranded RNA binding
    • phosphoglycolate phosphatase activity
    • phosphoprotein binding
    • polynucleotide 3'-phosphatase activity
    • protein N-terminus binding
  • is located in the following cellular components:
    • chromatin
    • nuclear chromatin
    • nucleolus
    • nucleoplasm

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Summary text based on GO annotations supported by structural data

• Aptx encodes a protein or proteins that contain the following InterPro domains: Forkhead-associated (FHA) domain, Histidine triad (HIT) protein, Histidine triad, conserved site, HIT-like domain, SMAD/FHA domain, Zinc finger, C2H2, Zinc finger, C2H2-like, indicating that the gene product:
  • performs the following molecular functions:
    • catalytic activity

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Aptx indicates that it:
  • participates in the following biological processes:
    • DNA repair
  • performs the following molecular functions:
    • DNA binding
    • hydrolase activity
  • is located in the following cellular components:
    • nucleus

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References

1. Ahel I et al. (2006) The neurodegenerative disease protein aprataxin resolves abortive DNA ligation intermediates. Nature, 443:713-6. (PubMed:16964241)

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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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