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

GO curators for mouse genes have assigned the following annotations to the gene product of Ampd1. (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 October 15, 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.] Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]

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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 Ampd1:
  • participates in the following biological processes:
    • response to organic substance
  • performs the following molecular functions:
    • myosin heavy chain binding

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Summary text based on GO annotations supported by structural data

• Ampd1 encodes a protein or proteins that contain the following InterPro domains: Adenosine/AMP deaminase active site, Adenosine/AMP deaminase domain, AMP deaminase, indicating that the gene product:
  • participates in the following biological processes:
    • IMP biosynthetic process
    • purine ribonucleoside monophosphate biosynthetic process
  • performs the following molecular functions:
    • AMP deaminase activity
    • deaminase activity

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Ampd1 indicates that it:
  • participates in the following biological processes:
    • nucleotide metabolic process
  • performs the following molecular functions:
    • hydrolase activity
    • metal ion binding
• Ampd1 has been associated with the Enzyme Commission numbers: 3.5.4.6, which implies that the gene product:
  • performs the following molecular functions:
    • AMP deaminase activity
• Annotations directly to cellular component for the gene Ampd1 indicate that MGI curators have found no experimental data [literature] to support further annotation to this category at this time.

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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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