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FLASH GENE
Symbol DLAT contributors: mct - updated : 23-06-2021
HGNC name dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex)
HGNC id 2896
Corresponding disease
DLATD pyruvate dehydrogenase E2 deficiency
Location 11q23.1      Physical location : 111.895.537 - 111.935.000
Synonym name
  • M2 antigen complex 70 kDa subunit
  • 70 kDa mitochondrial autoantigen of primary biliary cirrhosis
  • pyruvate dehydrogenase complex E2 subunit
  • Synonym symbol(s) DLTA, PDC-E2, PDCE2, E2
    EC.number 2.3.1.12
    DNA
    TYPE functioning gene
    STRUCTURE 38.99 kb     14 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 3882 - 493 - 1988 3191998
    14 - 3896 - 653 - 1988 3191998
    14 - 3878 - 647 - 1988 3191998
    14 - 3857 - 640 - 1988 3191998
    13 - 3770 - 611 - 1988 3191998
    12 - 3563 - 542 - 1988 3191998
    11 - 3455 - 506 - 1988 3191998
    12 - 3599 - 554 - 1988 3191998
    12 - 3497 - 520 - 1988 3191998
    14 - 3845 - 636 - 1988 3191998
    14 - 3793 - 605 - 1988 3191998
    14 - 3751 - 591 - 1988 3191998
    14 - 3872 - 645 - 1988 3191998
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouth   highly
    Lymphoid/Immunelymph node   highly
    Nervousbrain    
    Reproductivemale systemtestis  highly
    Respiratoryrespiratory tracttrachea  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two lipoyl-binding domains
  • E3 binding domain
  • a catalytic domain
  • HOMOLOGY
    intraspecies homolog to 2 oxoacid dehydrogenases acetyl-transferase
    Homologene
    FAMILY 2-oxoacid dehydrogenase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    basic FUNCTION
  • conversion of pyruvate to involved in the production of acetyl-CoA and carbone dioxide
  • novel function of DLAT in the nucleus, suggesting nuclear-mitochondrial crosstalk through the interaction between STAT5 and DLAT
  • radiation-induced blockade of autophagic flux stimulates redirection of intracellular molecules such as PDCE2 to the cell surface via a non-canonical secretory autophagy pathway
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism energetic
    signaling
    a component
  • E2 component of pyruvate dehydrogenase complex
  • multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3)
  • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • biotin
  • lipoate CoA
  • binds 2 lipoyl cofactors covalently
  • protein
  • binding HLA-A*0201
  • STAT5A-mediated repression of mtDNA expression also positively correlated with STAT5A binding to DLAT, both a gate-keeping metabolic enzyme and a component of mtDNA nucleoid in mitochondrial matrix
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DLATD
    related resource MITOP database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in placentas from pregnancies with IUGR
    constitutional     --over  
    of DLAT was seen in the damaged small bile ducts (SBDs) in primary biliary cirrhosis (PBC) and the expression was significantly more frequent in PBC than in control livers
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS