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FLASH GENE
Symbol DLD contributors: npt/shn - updated : 06-11-2012
HGNC name dihydrolipoamide dehydrogenase
HGNC id 2898
Corresponding disease
DLDD dihydrolipoamide dehydrogenase deficiency
Location 7q22.3      Physical location : 107.531.585 - 107.561.642
Synonym name
  • glycine cleavage system 1
  • dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)
  • E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex
  • glycine cleavage system L protein
  • lipoamide dehydrogenase
  • lipoyl dehydrogenase
  • lipoamide reductase
  • dihydrolipoyl dehydrogenase, mitochondrial
  • diaphorase
    • Synonym symbol(s) LAD, DLDH, E3, GCSL, PHE3
    EC.number 1.8.1.4
    DNA
    TYPE functioning gene
    STRUCTURE 30.06 kb     14 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    text structure
  • a "CAAT box"-like sequence is present at 39 bp upstream of the presumptive cap site, a Sp1 binding site, a nuclear respiratory factor 1 site, two cyclic AMP response element binding sites, pTR5 repetitive element, and a possible negative response element present in the insulin promoter in 2.0 kb-5'UTR region
    • MAPPING cloned Y linked N status confirmed
    Map cen - D7S496 - D7S2459 - DLD - D7S2456 - D7S692 - qter
    Authors Lai (00)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 3579 - 509 - -
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly Homo sapiensNM_000108
    Digestiveliver   moderately Rattus norvegicusNM_199385
    Nervousbrain   moderately Homo sapiensNM_000108
     brain   lowly Rattus norvegicusNM_199385
    Urinarykidney   moderately Rattus norvegicusNM_199385
    cells
    SystemCellPubmedSpeciesStageRna symbol
    not specificfibroblast Homo sapiensNM_000108
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a pyridine nucleotide disulphide oxidoreductase domain
  • a NAD+ small domain in a large FAD domain
  • an interaction domain with E2, through E3BP (PDHX)
    • mono polymer homomer , dimer
    HOMOLOGY
    interspecies ortholog to Dld, Rattus norvegicus
    ortholog to Dld, Mus musculus
    ortholog to dld, Danio rerio
    ortholog to DLD, Pan troglodytes
    Homologene
    FAMILY
  • class-I pyridine nucleotide-disulfide oxidoreductase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    basic FUNCTION
  • catalyzing the oxidation of dihydrolipoamide, hE3 uses two molecules : non-covalently bound FAD and a transiently bound substrate, NAD+
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS mitochondrial transport
    PATHWAY
    metabolism organic acid
    signaling
    a component
  • E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex, FAD dependent,reducing NAD+
    • INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • a FAD per subunit
    • protein
  • E3-binding domain of E3BP
    • cell & other
    REGULATION
    activated by thyroid hormones
    ASSOCIATED DISORDERS
    corresponding disease(s) DLDD
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • E340K, D444V, R447G, and R460G mutations in the dimer interface domain of dihydrolipoamide dehydrogenase (DLD) decrease to various degrees its activity
  • under elevated oxidative stress, expression of DLD proteins with dimer interface mutations greatly accelerated the loss of respiratory function, leading to oxidative damage to the lipoic acid cofactor of pyruvate dehydrogenase and &
    • 945;-ketoglutarate dehydrogenase