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FLASH GENE
Symbol PDHA1 contributors: mct/npt - updated : 06-07-2010
HGNC name pyruvate dehydrogenase (lipoamide) alpha 1
HGNC id 8806
Corresponding disease
LGS X-linked Leigh syndrome
PDHA1D pyruvate dehydrogenase (lipoamide) alpha 1 deficiency
Location Xp22.12      Physical location : 19.362.010 - 19.379.823
Synonym name
  • pyruvate dehydrogenase E1 alpha subunit
  • pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial
  • alpha subunit of pyruvate decarboxylase
  • Synonym symbol(s) PDHE1A, ODPA, PDHCE1A, PHE1A, PDHA
    EC.number 4.1.1.1, 1.2.4.1
    DNA
    TYPE functioning gene
    STRUCTURE 17.79 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    text structure tissue-specific transcription factor binding sites
    MAPPING cloned Y linked N status confirmed
    Map pter - DXS1195 - DXS418 -[DXS999 - DXS443 - DXS3424 - RPS6KA3 - DXS1229 - DXS2504 - DXS1528 - DXS365 ] - DXS7101 - DXS1683 - DXS1052 - DXS274 - DXS92 - DXS1226 - DXS41 - DXS989 - DXS451 - cen
    Authors Van de Vosse (94), Trump (95), Börglum (96)
    Text [PDHA1 ]
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 3390 - 390 - Tan (1999)
    - - 3504 - 428 - Tan (1999)
    - - 3411 - 397 - Tan (1999)
    - - 3297 - 359 - Tan (1999)
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveliver   highly
    Reproductivemale systemtestis  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymphocyte
    ReproductiveSertoli cell
    Reproductivespermatid
    Reproductivespermatozoa
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    secondary structure two alpha and two beta subunits
    mono polymer heteromer , tetramer
    isoforms Precursor the first 29 amino acids correspond to a typical mitochondrial targeting leader sequence; the remaining 361 amino acids represent the mature peptide
    HOMOLOGY
    interspecies homolog to murine Pdha1
    intraspecies homolog to PDHA2
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    basic FUNCTION
  • mitochondrial matrix multienzyme complex that provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle by catalyzing the irreversible conversion of pyruvate into acetyl-CoA
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
  • E1 alpha polypeptide of the complex forming an heterotetramer alpha2/beta2 bound to two TPP (thiamine-pyrophosphate) one each bridging E1 alpha and E1 beta to form an active site catalyzing the irreversible decarboxylation of pyruvate to acetyl-CoA
  • INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • thiamine pyrophosphate
  • protein
    cell & other
    REGULATION
    activated by thyroid hormones
    ASSOCIATED DISORDERS
    corresponding disease(s) PDHA1D , LGS
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS