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FLASH GENE
Symbol PDHX contributors: mct - updated : 05-02-2011
HGNC name pyruvate dehydrogenase complex, component X
HGNC id 21350
Corresponding disease
PDHX pyruvate dehydrogenase e3-binding protein deficiency
Location 11p13      Physical location : 34.937.676 - 35.017.674
Synonym name
  • lipoyl-containing protein (protein X)
  • E3-binding protein
    • Synonym symbol(s) DLDBP, E3BP, OPDX, PDX1, proX
    DNA
    TYPE functioning gene
    STRUCTURE 80.00 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    WT1 11p13 Wilms tumor 1 WIT-1 11p13 Wilms tumor associated protein LOC387760 11 LOC387760 GA17 11p13 LOC387760 RPL34P2 11p13 ribosomal protein L34 pseudogene 2 TMG4 11p13 transmembrane gamma-carboxyglutamic acid protein 4 FLJ21924 11p13 hypothetical protein FLJ21924 LOC91614 11p13 novel 58.3 KDA protein FLJ11336 11p13 hypothetical protein FLJ11336 PIGCP1 11p13-p12 phosphatidylinositol glycan, class C, pseudogene 1 CSTF3 11p13 cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa LOC390107 11 similar to ribosomal protein S24 HIPK3 11p13 homeodomain interacting protein kinase 3 G2 11p13 G2 protein MGC34830 11p13 hypothetical protein MGC34830 CD59 11p13 CD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and G344) FBXO3 11p12 F-box only protein 3 LOC390108 11 similar to hypothetical protein MGC40611 LMO2 11p13 LIM domain only 2 (rhombotin-like 1) M11S1 11p13 membrane component, chromosome 11, surface marker 1 FLJ10774 11p13 N-acetyltransferase-like protein ABTB2 11p13 ankyrin repeat and BTB (POZ) domain containing 2 CAT 11p13 catalase ELF5 11p15-p13 E74-like factor 5 (ets domain transcription factor) EHF 11p12 ets homologous factor MMRP19 11p13 likely ortholog of mouse monocyte macrophage 19 PDHX 11p13 pyruvate dehydrogenase complex, component X CD44 11p13 CD44 antigen (homing function and Indian blood group system) SLC1A2 11p13-p12 solute carrier family 1 (glial high affinity glutamate transporter), member 2 DKFZP586H2123 11p13 DKFZP586H2123 protein FJX1 11p13 four jointed box 1 (Drosophila) TRIM44 11p12-14 tripartite motif-containing 44 LOC119722 11p13 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) LOC143458 11p13 hypothetical protein LOC143458 HSPC166 11p13 HSPC166 protein FLJ14213 11p13 hypothetical protein FLJ14213 TRAF6 11p13-p12 TNF receptor-associated factor 6 RAG1 11p13 recombination activating gene 1 RAG2 11p13 recombination activating gene 2 LOC119710 11p13 hypothetical protein BC009561
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 2991 - 501 - 2006 16442803
    11 - 5689 - 486 - -
    6 - 2310 - 274 - -
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose   
    Muscularstriatumcardiac  
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a biotin binding lipoyl domain
  • an E3 binding domain
  • 2 oxoacid dehydrogenase acyltransferase catalytic domain
    • HOMOLOGY
    intraspecies homolog to lipoate acetyltransferase (E2)
    Homologene
    FAMILY
  • 2-oxoacid dehydrogenase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    basic FUNCTION
  • required for anchoring E3 to the dihydrolipoamide transacetylase (E2) core of PDH complex. mediating the binding and optimal orientation of E3 with E2
  • E3 subunit of the pyruvate dehydrogenase (PDH) complex involved in the conversion of pyruvate to acetyl coenzyme A, which links glycolysis and the Krebs cycle
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism energetic
    signaling
    a component
  • subunit of the pyruvate dehydrogenase complex
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding lipoamide dehydrogenase (E3)
    • cell & other
    REGULATION
    Other regulated by HNF3B,HNF1A,SP1 and SP3 transcription factors
    ASSOCIATED DISORDERS
    corresponding disease(s) PDHX
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    correlated with non-progressive encephalopathy and long-term survival
    Susceptibility
    Variant & Polymorphism
    Candidate gene for susceptibility to systemic lupus erythematosus
    Marker
    Therapy target
    ANIMAL & CELL MODELS