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FLASH GENE
Symbol BBOX1 contributors: npt/mct - updated : 19/11/2008
HGNC name butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1
HGNC id 964
DNA
TYPE functioning gene
STRUCTURE 86.85 kb     9 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
text structure
  • the transcription initiation might occur at 3 different exons
  • use of 3 different promoters is responsible for the 5'-end heterogeneity
    • MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    text alternative polyadenylation mechanism that generates two 3'-untranslated regions differing by their length and exhibited a tissue specificity
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1901 44.6 387 - Rigault (2006)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   moderately
    Hearing/Equilibriumear   highly
    Nervousbrain   lowly
    Urinarykidney   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to murine Bbox1
    Homologene
    FAMILY
  • GAMMA-BBH/TMLD family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • catalyzing the formation of L-carnitine from gamma-butyrobutyrate, last step of L-carnitine biosynthesis
  • enzyme responsible for the biosynthesis of l-carnitine, a key molecule of fatty acid metabolism
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • iron and ascorbate
    • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS