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

GO curators for mouse genes have assigned the following annotations to the gene product of Dld. (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 February 29, 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.] This gene encodes the L protein of the mitochondrial glycine cleavage system. The L protein, also named dihydrolipoamide dehydrogenase, is also a component of the pyruvate dehydrogenase complex, the alpha-ketoglutarate dehydrogenase complex, and the branched-chain alpha-keto acide dehydrogenase complex. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. [provided by RefSeq, Jul 2008]

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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 Dld
  • participates in the following biological processes:
    • proteolysis ^[1]
    • sperm capacitation ^[4]
  • is located in the following cellular components:
    • acrosomal matrix ^[4]
    • flagellum ^[4]
    • mitochondrion ^{[4, 5, 6]}
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Dld
  • participates in the following biological processes:
    • gastrulation ^[2]
    • mitochondrial electron transport, NADH to ubiquinone ^[3]
    • regulation of membrane potential ^[3]
  • performs the following molecular functions:
    • dihydrolipoyl dehydrogenase activity ^[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 Dld:
  • participates in the following biological processes:
    • 2-oxoglutarate metabolic process
    • acetyl-CoA biosynthetic process from pyruvate
    • dihydrolipoamide metabolic process
    • lipoate metabolic process
    • oxidation-reduction process
  • performs the following molecular functions:
    • dihydrolipoyl dehydrogenase activity
    • flavin adenine dinucleotide binding
    • lipoamide binding
    • NAD binding
  • is located in the following cellular components:
    • mitochondrion
    • nucleus
    • oxoglutarate dehydrogenase complex
    • pyruvate dehydrogenase complex

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Summary text based on GO annotations supported by structural data

• Dld encodes a protein or proteins that contain the following InterPro domains: Dihydrolipoamide dehydrogenase, FAD-dependent pyridine nucleotide-disulphide oxidoreductase, FAD/NAD-linked reductase, dimerisation, Pyridine nucleotide-disulphide oxidoreductase, class I, active site, Pyridine nucleotide-disulphide oxidoreductase, dimerisation, Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain, Pyridine nucleotide-disulphide oxidoreductase, NAD-binding domain, indicating that the gene product:
  • participates in the following biological processes:
    • cell redox homeostasis
  • performs the following molecular functions:
    • oxidoreductase activity
    • oxidoreductase activity, acting on a sulfur group of donors, NAD(P) as acceptor
  • is located in the following cellular components:
    • cytoplasm

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Dld indicates that it:
  • performs the following molecular functions:
    • oxidoreductase activity

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References

1. Babady NE et al. (2007) Cryptic proteolytic activity of dihydrolipoamide dehydrogenase. Proc Natl Acad Sci U S A, 104:6158-63. (PubMed:17404228)
2. Johnson MT et al. (1997) Targeted disruption of the murine dihydrolipoamide dehydrogenase gene (Dld) results in perigastrulation lethality. Proc Natl Acad Sci U S A, 94:14512-7. (PubMed:9405644)
3. Klivenyi P et al. (2004) Mice deficient in dihydrolipoamide dehydrogenase show increased vulnerability to MPTP, malonate and 3-nitropropionic acid neurotoxicity. J Neurochem, 88:1352-60. (PubMed:15009635)
4. Mitra K et al. (2005) Novelty of the pyruvate metabolic enzyme dihydrolipoamide dehydrogenase in spermatozoa: correlation of its localization, tyrosine phosphorylation, and activity during sperm capacitation. J Biol Chem, 280:25743-53. (PubMed:15888450)
5. Mootha VK et al. (2003) Integrated analysis of protein composition, tissue diversity, and gene regulation in mouse mitochondria. Cell, 115:629-40. (PubMed:14651853)
6. 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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