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FLASH GENE

Symbol

DBH

contributors: mct - updated : 07-11-2022

HGNC name	dopamine beta-hydroxylase (dopamine beta-monooxygenase)
HGNC id	2689

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ORTHYP1 orthostatic hypotension 1, due to DBH deficiency
Location	9q34.2      Physical location : 136.501.484 - 136.524.467
Synonym name	dopamine beta- monooxygenase
Synonym symbol(s)	DOPO, DBM, ORTHYP1
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

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000787 13 - 2812 - 617 - 2001 11532994

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver         Homo sapiens Endocrine adrenal gland medulla       Homo sapiens Nervous brain         Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous autonomous       Homo sapiens Nervous peripherous       Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

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
	DBH catalyzes the conversion of dopamine to norepinephrine in the central nervous system and peripherally

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
	FOXO1 favors catecholamine synthesis because it is a potent regulator of the expression of DBH that encodes the initial and rate-limiting enzyme in the synthesis of these neurotransmitters
	DBH-containing neurons express both ATP7A and ATP7B

cell & other

REGULATION

activated by

PRKA and the mediation of ARIX

ASSOCIATED DISORDERS

corresponding disease(s)

ORTHYP1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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
	System Type Disorder Pubmed miscelleaneous hypertension   potential drug target to combat hypertension

ANIMAL & CELL MODELS

overexpressed in human beta hydroxylase transgenic mice