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HGNC genecards Ensembl Unigene
FLASH GENE
Symbol DLAT last update : 07-02-2007
HGNC name dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex)
HGNC id 2896
Corresponding disease
DLATD pyruvate dehydrogenase E2 deficiency
Location 11q23.1
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 RNA EXP/sub-loc PROTEIN PATHOLOGY
    DNA
    TYPE functioning gene
    STRUCTURE 38.00 kb     14 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    MGC50104 11q23.2 Similar to RIKEN cDNA 1810046K07 gene LOC120376 11q23.2 hypothetical protein LOC120376 POU2AF1 11q23.1 POU domain, class 2, associating factor 1 BTG4 11q23.2-q23.3 B-cell translocation gene 4 LOC387807 11 hypothetical gene supported by AK128145; BC039505 LOC143903 11q23.2 layilin SIK2 11q23.2 salt-inducible serine/threonine kinase 2 PPP2R1B 11q23 protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform DIBD1 11q23 disrupted in bipolar affective disorder 1 C11orf1 11p15.5 chromosome 11 open reading frame 1 CRYAB 11q22.3-q23.1 crystallin, alpha B HSPB2 11q22.3-q23.1 heat shock 27kDa protein 2 MGC14839 11q23.2 similar to RIKEN cDNA 2310030G06 gene DIXDC1 DIX domain containing 1 LOC387808 11 similar to KIAA1735 protein DLAT 11q23.1 dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex) LOC246731 11q23 peptidyl prolyl isomerase H (cyclophilin H) pseudogene LOC120379 11q23.2 hypothetical protein BC019238 FLJ10726 11q23.2 hypothetical protein FLJ10726 TIMM8B 11q23.1-q23.2 translocase of inner mitochondrial membrane 8 homolog B (yeast) SDHD 11q22.3-q23.1 succinate dehydrogenase complex, subunit D, integral membrane protein IL18 11q22.2-q22.3 interleukin 18 (interferon-gamma-inducing factor) TEX12 11q22 testis expressed sequence 12 BCDO2 11q22.3-q23.1 beta-carotene dioxygenase 2 MRPS36P4 11q23.2 mitochondrial ribosomal protein S36 pseudogene PTS 11q22.3-q23.3 6-pyruvoyltetrahydropterin synthase PLET1 11q23.2 placenta expressed transcript 1 LOC387809 11 similar to heat shock 70kD protein binding protein; progesterone receptor-associated p48 protein; putative tumor suppressor ST13; Hsp70-interacting protein LOC387810 11 LOC387810
    RNA
    TRANSCRIPTS type messenger
    EXPRESSION / SUBCELLULAR LOCALIZATION
    EXPRESSION (based on citations) ubiquitous
    constitutive of
       expressed in
    organ(s)
    SystemOrgan 1organ 2organ 3organ 4level
    Digestivemouth   highly
    Lymphoid/Immunelymph node   highly
    Nervousbrain    
    Reproductivemale systemtestis  highly
    Respiratoryrespiratory tracttrachea  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two lipoyl-binding domains
  • E3 binding domain
  • a catalytic domain
    • HOMOLOGY
    interspecies
     
    intraspecies
     
    homolog to 2 oxoacid dehydrogenases acetyl-transferase
    Homologene
    FAMILY 2-oxoacid dehydrogenase family
    CATEGORY enzyme
    basic FUNCTION
  • conversion of pyruvate to involved in the production of acetyl-CoA and carbone dioxide
    • implicated in a
    process
    cellular process
    physiological
    pathway
    metabolism energetic
    signaling
    a component
    structural
  • 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
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DLATD
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Therapy target
    animal or cellular model