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FLASH GENE
Symbol DBH contributors: mct - updated : 26-10-2011
HGNC name dopamine beta-hydroxylase (dopamine beta-monooxygenase)
HGNC id 2689
Corresponding disease
DBH dopamine beta- hydroxylase deficiency, congenital
Location 9q34.2      Physical location : 136.501.484 - 136.524.467
Synonym name dopamine beta- monooxygenase
Synonym symbol(s) DOPO, DBM
EC.number 1.14.17.1
DNA
TYPE functioning gene
STRUCTURE 22.98 kb     13 Exon(s)
10 Kb 5' upstream gene genomic sequence study
text structure sequence motif in the 5' flanking region mediating transcriptional induction by 12-O-tetradecanoyphorbol-13-acetate (TPA)
MAPPING cloned Y linked Y status confirmed
Map see ABO ABO
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
13 - 2812 - 617 - 2001 11532994
EXPRESSION
Type
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinesmall intestine   
Endocrineadrenal glandmedulla   
Nervousbrain    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervousautonomous   
Nervousperipherous   
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES globular
STRUCTURE
motifs/domains
  • N terminal regulatory domain specific to DBH
  • a DOMON domain
  • a Dopamine beta-hydroxylase domain
  • conjugated MetalloP
    mono polymer homomer , tetramer
    isoforms Precursor 25-residue signal peptide that is cleaved
    HOMOLOGY
    interspecies homolog to rattus Dbh
    ortholog to Drosophila Dbh
    intraspecies paralog to monooxygenase X
    paralog to CG6
    paralog to SDR2
    Homologene
    FAMILY copper type 2 ascorbate-dependent monooxygenase family
    CATEGORY enzyme , signaling neurotransmitter
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,cytosolic,vesicle
    text
  • synaptic vesicles of post ganglionic, membrane bound and soluble forms
  • soluble form in chromaffin granules
  • basic FUNCTION
  • involved in conversion of dopamine to epinephrine or norepinephrine, catecholamine biosynthesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism amine
    signaling neurotransmission
    catecholamine biosynthesis
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding, cofactor,
    two copper ions per subunit
    protein
  • ascorbate-dependent
  • interacting with HAND2 (implicated in the maintenance of TH and DBH expression in autonomic neurons)
  • HAND2 can activate the sympathetic nervous system (SNS) differentiation program by induction of SNS-related genes, including PHOX2B, ASCL1, DBH and TH
  • cell & other
    REGULATION
    activated by PRKA and the mediation of ARIX
    ASSOCIATED DISORDERS
    corresponding disease(s) DBH
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    DBH activity is statistically significantly decreased in non-treated depressive disorder and ADHD in children and adolescents
    Susceptibility
  • to decreased DBH with attention-deficit, hyperactivity disorder
  • to migraine with aura
  • Variant & Polymorphism SNP , other SNP 1021C->T
    Candidate gene major QTL for plasma activity
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    overexpressed in human beta hydroxylase transgenic mice