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FLASH GENE
Symbol PDP1 contributors: mct/npt - updated : 22-06-2009
HGNC name pyruvate dehyrogenase phosphatase catalytic subunit 1
HGNC id 9279
Corresponding disease
PDP1D pyruvate dehydrogenase phosphatase 1 deficiency
PPM2CD pyruvate dehydrogenase phosphatase deficiency
Location 8q22.1      Physical location : 94.929.082 - 94.938.294
Synonym name
  • pyruvate dehydrogenase phosphatase
  • pyruvate dehydrogenase (lipoamide) phosphatase-phosphatase
  • protein phosphatase 2C, magnesium-dependent, catalytic subunit
  • Synonym symbol(s) PDP, PDH, MGC119646, FLJ32517, PDPC, PPM2C
    EC.number 3.1.3.43
    DNA
    TYPE virus associated
    STRUCTURE 9.13 kb     2 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 4291 60.9 537 - Lawson (1993), Cameron (2009)
    - - 4248 67.3 596 - Cameron (2009)
    - - 4373 63.6 562 - Cameron (2009)
    - - 4247 63.6 562 - Cameron (2009)
    - - 4234 60.9 537 - Cameron (2009)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineadrenal gland    
    Nervousbrain   highly
    Skin/Tegumentskin    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to rattus Pdp1
    homolog to murine LOC381511
    Homologene
    FAMILY
  • protein phosphatase 2C family of protein serine/threonine phosphatases (PP2C family)
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    basic FUNCTION
  • dephosphorylating and reactivating the alpha subunit of the E1 component of the pyruvate dehydrogenase complex (PDC)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text transit peptide
    PATHWAY
    metabolism
    signaling
    a component
  • heterodimer of a catalytic subunit and a FAD protein of unknown function
  • INTERACTION
    DNA
    RNA
    small molecule metal binding, cofactor,
  • Mg2+ dependent
  • Ca2+
  • protein
    cell & other
    REGULATION
    activated by calcium Ca2+
    ASSOCIATED DISORDERS
    corresponding disease(s) PDP1D , PPM2CD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    reduced activity of PDP in congenital chronic lactic acidosis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS