Version: 8.0.0
Date: Tue Jan 28 2025
PDK3
Homo sapiensHGNC:8811
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

PDK3

Species
Homo sapiens
Symbol
PDK3
Name
pyruvate dehydrogenase kinase 3
Synonyms
  • [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial
  • [Pyruvate dehydrogenase [lipoamide]] kinase isozyme 3, mitochondrial
Biotype
protein coding gene
Automated Description
Enables ATP binding activity and pyruvate dehydrogenase (acetyl-transferring) kinase activity. Involved in several processes, including intracellular signal transduction; peptidyl-serine phosphorylation; and regulation of small molecule metabolic process. Located in mitochondrion and nucleolus. Implicated in Charcot-Marie-Tooth disease X-linked dominant 6.
RGD Description
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). It provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle, and thus is one of the major enzymes responsible for the regulation of glucose metabolism. The enzymatic activity of PDH is regulated by a phosphorylation/dephosphorylation cycle, and phosphorylation results in inactivation of PDH. The protein encoded by this gene is one of the three pyruvate dehydrogenase kinases that inhibits the PDH complex by phosphorylation of the E1 alpha subunit. This gene is predominantly expressed in the heart and skeletal muscles. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11947
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Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
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Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
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    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
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        Models

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        Experimental condition
        Associated Human Diseases
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          PDK3 molecule type
          Interactor gene
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          Interactor molecule type
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            Genetic Interactions

            PDK3 role
            PDK3 genetic perturbation
            Interactor gene
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            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
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