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FLASH GENE
Symbol DLAT contributors: - updated : 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      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 38.00 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
    Type ubiquitous
    constitutive of
       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
    • 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
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DLATD
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS