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FLASH GENE
Symbol BDH1 contributors: - updated : 27-02-2006
HGNC name 3-hydroxybutyrate dehydrogenase, type 1
HGNC id 1027
Location 3q29      Physical location : 197.236.654 - 197.300.194
Synonym name 3-hydroxybutyrate dehydrogenase (heart, mitochondrial)
Synonym symbol(s) MGC2723, MGC4347, MGC9788, BDH
EC.number 1.1.1.30
DNA
TYPE functioning gene
STRUCTURE 61.00 kb     7 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
text
  • all three variants encode the same protein
  • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - splicing 3394 38 343 - Loeb-Hennard
  • appears to represent a major transript
  • - splicing 3330 38 343 - Loeb-Hennard
  • differs in the 5' UTR compared to variant 1
  • - splicing 3546 38 343 - Loeb-Hennard
  • containing an additional exon in the 5' UTR
  • EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon highly
     mouthtongue  highly
    Lymphoid/Immunelymph node    
     thymus    
    Nervousbrain   moderately
    Reproductivefemale systemovary   
    Respiratorylung   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    Connectivebone   
    Nervousperipherous   
    cell lineage
    cell lines
    fluid/secretion blood
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a 46-residue leader peptide cleaved to produce the mature form
  • secondary structure
  • predicted secondary structure motif of alternating alpha-helices and beta-sheets
  • mono polymer homomer , tetramer
    isoforms Precursor
    HOMOLOGY
    interspecies ortholog to rattus Bdh
    ortholog to murine Bdh
    intraspecies homolog to short-chain alcohol dehydrogenases (SCADHs), in the first two-thirds of the BDH protein
    Homologene
    FAMILY short-chain dehydrogenases/reductases (SDR) family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    basic FUNCTION
  • being a lipid-requiring mitochondrial enzyme with a specific requirement of phosphatidylcholine (PC)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism alcohol
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • NAD/NADH
  • protein
    cell & other
    REGULATION
    activated by phosphatidylcholine, in an allosteric action
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS