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FLASH GENE
Symbol BCKDK contributors: mct - updated : 07-02-2018
HGNC name branched chain ketoacid dehydrogenase kinase
HGNC id 16902
Corresponding disease
BCKDKD branched-chain ketoacid dehydrogenase kinase deficiency
Location 16p11.2      Physical location : 31.119.661 - 31.124.110
Synonym name
  • branched chain alpha-ketoacid dehydrogenase kinase
  • BCKDHKIN
    • Synonym symbol(s) BDK, BCKDKD
    EC.number 2.7.1.115/2.7.11.4
    DNA
    TYPE functioning gene
    STRUCTURE 9.36 kb     12 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
    11 - 2237 - 365 - 2004 15302860
    10 - 2147 - 335 - 2004 15302860
    12 - 2144 - 412 - 2004 15302860
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  predominantly
     liver   moderately
    Reproductivefemale systemuteruscervix moderately
     female systemovary  moderately
     female systemplacenta  moderately
     male systemtestis  highly
    Skin/Tegumentskin   moderately
    Urinarykidney   moderately
    Visualeye   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    Nervousperipherous   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an histidine kinase domain
    • conjugated PhosphoP
    mono polymer monomer , complex
    HOMOLOGY
    interspecies ortholog to murine Bckdk
    ortholog to rattus Bckdk
    Homologene
    FAMILY
  • PDK/BCKDK protein kinase family
    • CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    basic FUNCTION
  • catalyzing the phosphorylation and inactivation of the branched-chain alpha-ketoacid dehydrogenase complex (the key regulatory enzyme of the valine, leucine and isoleucine catabolic pathways)
  • regulating the activity state of the BCKD complex
  • catalyzes the irreversible, rate-limiting step in the catabolism of branched-chain amino acids (BCAAs)
  • integral part of an enzyme complex located in the mitochondrial matrix of many tissues which regulates the levels of the branched-chain amino acids (BCAAs), leucine, isoleucine and valine
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • alpha-ketoglutarate dehydrogenase complex
    • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP
    • protein
  • role of BCKDK in negative regulation of the BCKDHA complex
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BCKDKD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Bckdk knockout mice show abnormal brain amino acid profiles and neurobehavioral deficits that respond to dietary supplementation
  • mice deficient for Bckdk display increased basal activity of the BCKDH complex as well as reduced BCAAs in various tissues, and neurological deficits were completely abolished within a week of the Bckdk-/- mice starting the BCAA-enriched diet, which suggests that they have an inducible yet reversible phenotype