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

GO curators for mouse genes have assigned the following annotations to the gene product of Pdha1. (This text reflects annotations as of Wednesday, January 23, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 alpha 1 subunit containing the E1 active site, and plays a key role in the function of the PDH complex. Mutations in this gene are associated with pyruvate dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 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 Pdha1
  • is located in the following cellular components:
    • mitochondrion ^{[2, 3]}
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Pdha1
  • participates in the following biological processes:
    • oxidation-reduction process ^[1]
  • performs the following molecular functions:
    • pyruvate dehydrogenase 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 Pdha1:
  • participates in the following biological processes:
    • acetyl-CoA biosynthetic process from pyruvate
    • oxidation-reduction process
    • tricarboxylic acid cycle
  • performs the following molecular functions:
    • pyruvate dehydrogenase (acetyl-transferring) activity
    • pyruvate dehydrogenase activity
  • is located in the following cellular components:
    • mitochondrion
    • pyruvate dehydrogenase complex

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Summary text based on GO annotations supported by structural data

• Pdha1 encodes a protein or proteins that contain the following InterPro domains: Dehydrogenase, E1 component, Pyruvate dehydrogenase (acetyl-transferring) E1 component, alpha subunit, subgroup y, indicating that the gene product:
  • participates in the following biological processes:
    • glycolysis
    • metabolic process
  • performs the following molecular functions:
    • oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor
  • is located in the following cellular components:
    • intracellular membrane-bounded organelle

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Pdha1 indicates that it:
  • participates in the following biological processes:
    • glycolysis
  • performs the following molecular functions:
    • oxidoreductase activity

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References

1. Johnson MT et al. (2001) Inactivation of the murine pyruvate dehydrogenase (Pdha1) gene and its effect on early embryonic development. Mol Genet Metab, 74:293-302. (PubMed:11708858)
2. Mootha VK et al. (2003) Integrated analysis of protein composition, tissue diversity, and gene regulation in mouse mitochondria. Cell, 115:629-40. (PubMed:14651853)
3. Pagliarini DJ et al. (2008) A mitochondrial protein compendium elucidates complex I disease biology. Cell, 134:112-23. (PubMed:18614015)

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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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