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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 ]
    Physical map
    FIGF Xp22.1 c-fos induced growth factor (vascular endothelial growth factor D) PIR Xp22.31 c-fos induced growth factor (vascular endothelial growth factor D) BMX Xp22.2 BMX non-receptor tyrosine kinase ACE2 Xp22 angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 NX17 Xp22 kidney-specific membrane protein LOC340591 Xp22.31 similar to carbonic anhydrase VB, mitochondrial precursor; carbonic dehydratase CA5B Xp22.1 carbonic anhydrase VB, mitochondrial U2AF1L2 Xp22.1 U2(RNU2) small nuclear RNA auxiliary factor 1-like 2 AP1S2 Xp36.3-p21.3 adaptor-related protein complex 1, sigma 2 subunit GRPR Xp22.2-p22.13 gastrin-releasing peptide receptor LOC139451 Xp22.22 similar to melanoma antigen, family B, 4; melanoma-associated antigen B4 LOC139452 Xp22.22 similar to 60S ribosomal protein L6 (TAX-responsive enhancer element binding protein 107) (TAXREB107) (Neoplasm-related protein C140) LOC392429 X similar to Hspcb protein CTPS2 Xp22 CTP synthase II CALB3 Xp22.2 calbindin 3, (vitamin D-dependent calcium binding protein) SYAP1 Xp22.31 synapse associated protein 1, SAP47 homolog (Drosophila) CXorf15 Xp22.22 chromosome X open reading frame 15 RBBP7 Xp22.31 retinoblastoma binding protein 7 RNU4P6 Xp22.22 RNA, U4 small nuclear pseudogene 6 REPS2 Xp22.22 RALBP1 associated Eps domain containing 2 PRO0386 Xp22.22 hypothetical protein PRO0386 NHS Xp22.13 Nance-Horan syndrome (congenital cataracts and dental anomalies) SCML1 Xp22 sex comb on midleg-like 1 (Drosophila) LOC392430 X similar to dJ40E16.3 (novel gene similar to D. melanogaster CG5327 ) RAI2 Xp22 retinoic acid induced 2 LOC392431 X similar to Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse) MGC33653 Xp22.22 hypothetical protein MGC33653 SCML2 Xp22 sex comb on midleg-like 2 (Drosophila) CDKL5 Xp22 cyclin-dependent kinase-like 5 RS1 Xp22.2 retinoschisis (X-linked, juvenile) 1 PPEF1 Xp22.2-p22.1 protein phosphatase, EF hand calcium-binding domain 1 PHKA2 Xp22.2-p22.13 phosphorylase kinase, alpha 2 (liver) GPR64 Xp22.22 G protein-coupled receptor 64 PDHA1 Xp22.1 pyruvate dehydrogenase (lipoamide) alpha 1 LOC389840 X similar to MAP/ERK kinase kinase 5; apoptosis signal regulating kinase SH3KBP1 Xp22.3-p11.3 SH3-domain kinase binding protein 1 LOC256643 Xp22.13 hypothetical protein LOC256643 FLJ14503  hypothetical protein FLJ14503 EIF1A Xp22.1 eukaryotic translation initiation factor 1A RPS6KA3 Xp22.13 ribosomal protein S6 kinase, 90kDa, polypeptide 3 CNK2 Xp22.13 ribosomal protein S6 kinase, 90kDa, polypeptide 3 FLJ34960 Xp22.13 hypothetical protein FLJ34960 SMPX Xp22.1 small muscle protein, X-linked MBTPS2 Xp22.1-p22.2 membrane-bound transcription factor protease, site 2 SMS Xp22.1 spermine synthase PHEX Xp22.2-p22.1 phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets) FLJ25735 Xp22.13 hypothetical protein FLJ25735 LOC389841 X LOC389841 DDX53 Xp22 DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 MGC45134 Xp22.13 hypothetical protein MGC45134 LOC392432 X similar to hypothetical protein MGC35083
    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