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FLASH GENE
Symbol PDHA1 contributors: mct/npt - updated : 06-07-2022
HGNC name pyruvate dehydrogenase (lipoamide) alpha 1
HGNC id 8806
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
intracellular,nucleus,nucleolus
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
  • serves as a gate-keeper enzyme link between glycolysis and the mitochondrial citric acid cycle
    • 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
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    promotes cancer progression and acts as a poor prognostic factor for cancer
    tumoral     --low  
    significantly correlated with a poorer overall survival in patients with Gastric cancer
    constitutional     --low  
    significantly decreased in the putamen and substantia nigra of patients with idiopathic Parkinson disease
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • decreased expression of PDHA1 might be an independent prognostic factor in unfavorable outcomes in ovarian carcinoma
  • PDHA1 is an independent predictor of overall survival in Gastric cancer
    • Therapy target
    ANIMAL & CELL MODELS