Dbh dopamine beta hydroxylase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dbhprovided by MGI
Official Full Name: dopamine beta hydroxylaseprovided by MGI
Primary source: MGI:MGI:94864
See related: Ensembl:ENSMUSG00000000889 AllianceGenome:MGI:94864
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Predicted to enable copper ion binding activity and dopamine beta-monooxygenase activity. Involved in catecholamine metabolic process; locomotory behavior; and positive regulation of cold-induced thermogenesis. Acts upstream of or within several processes, including behavioral response to ethanol; homoiothermy; and learning or memory. Located in secretory granule lumen and secretory granule membrane. Is expressed in several structures, including adrenal gland; alimentary system; and nervous system. Used to study dopamine beta-hydroxylase deficiency. Human ortholog(s) of this gene implicated in several diseases, including alcohol use disorder; attention deficit hyperactivity disorder; dopamine beta-hydroxylase deficiency; hypertension; and migraine with aura. Orthologous to human DBH (dopamine beta-hydroxylase). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward adrenal adult (RPKM 151.1) See more
Orthologs: human all
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Genomic context

Location:: 2 A3; 2 19.29 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (27055519..27073216)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (27165507..27183204)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Results suggest that the lack of ZFP521 upregulates the expression of DBH, which leads to a decrease in the DA level and an increase in the NA level in the brain, resulting in abnormal behaviors.
Title: Lack of zinc finger protein 521 upregulates dopamine β-hydroxylase expression in the mouse brain, leading to abnormal behavior.
DBH-containing neurons express both ATP7A and ATP7B. The two transporters are located in distinct cellular compartments and oppositely regulate the export of soluble DBH from cultured neuronal cells under resting conditions.
Title: ATP7A and ATP7B copper transporters have distinct functions in the regulation of neuronal dopamine-β-hydroxylase.
Data show the wake lengths of locus coeruleus (LC)-specific dopamine beta hydroxylase (dbh)-mutated mice were decreased.
Title: In vivo cell type-specific CRISPR knockdown of dopamine beta hydroxylase reduces locus coeruleus evoked wakefulness.
In mice, hepatic Dbh mRNA levels correlated with cardiovascular risk phenotypes.
Title: Regulatory polymorphisms in human DBH affect peripheral gene expression and sympathetic activity.
Dbh-deficient mice exhibit shorter latencies to loss of righting reflex and longer durations of hypersensitivity to general anesthesia.
Title: Hypnotic hypersensitivity to volatile anesthetics and dexmedetomidine in dopamine β-hydroxylase knockout mice.
our results suggest that DBH knockout mice have normal levels of dopamine 2 receptors in the high-affinity state and that additional mechanisms contribute to their behavioral sensitivity to psychostimulants
Title: Dopamine beta-hydroxylase-deficient mice have normal densities of D(2) dopamine receptors in the high-affinity state based on in vivo PET imaging and in vitro radioligand binding.
These results strongly suggest that the norepinephrine defect in Mecp2(-/Y) mice is likely to result from deficient expression of not only tyrosine hydroxylase but also DBH without significant loss of catecholaminergic neurons in the locus coeruleus.
Title: Pontine norepinephrine defects in Mecp2-null mice involve deficient expression of dopamine beta-hydroxylase but not a loss of catecholaminergic neurons.
Data show how deficiency of dopamine-beta-hydroxylase (DBH) and CRH affects tyrosine hydroxylase, DBH, and phenylethanolamine N-methyltransferase gene expression and protein levels in the adrenal medulla and stellate ganglia of control and stressed mice.
Title: Regulation of gene expression of catecholamine biosynthetic enzymes in dopamine-beta-hydroxylase- and CRH-knockout mice exposed to stress.
The response of mice deficient in this gene to cholecystokinin-8 induced satiety
Title: Peptides that regulate food intake: norepinephrine is not required for reduction of feeding induced by cholecystokinin.
A mutation in the ATP7B copper transporter causes reduced levels of this enzyme and norepinephrine in the mouse adrenal gland.
Title: A mutation in the ATP7B copper transporter causes reduced dopamine beta-hydroxylase and norepinephrine in mouse adrenal.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (10) 1 citation
Endonuclease-mediated (6) 1 citation

General gene information

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Markers

DBH (e-PCR), detects polymorphism
- UniSTS:510523

Dbh (e-PCR), detects polymorphism
- UniSTS:506837

Dbh (e-PCR), detects polymorphism
- UniSTS:142832

Dbh (e-PCR), detects polymorphism
- UniSTS:142833

Dbh (e-PCR), detects polymorphism
- UniSTS:142834

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables L-ascorbic acid binding	IEA Inferred from Electronic Annotation more info
enables catalytic activity	IEA Inferred from Electronic Annotation more info
enables copper ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables copper ion binding	ISO Inferred from Sequence Orthology more info
enables dopamine beta-monooxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables dopamine beta-monooxygenase activity	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables monooxygenase activity	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within associative learning	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within behavioral response to ethanol	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within blood vessel remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within catecholamine biosynthetic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cytokine production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in dopamine catabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within dopamine catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in dopamine catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in dopamine catabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within fear response	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glucose homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within homoiothermy	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within leukocyte mediated immunity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within leukocyte migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within maternal behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within memory	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in norepinephrine biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within norepinephrine biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in norepinephrine biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in norepinephrine biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in octopamine biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in octopamine metabolic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cold-induced thermogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of vasoconstriction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of extrinsic apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of vascular associated smooth muscle cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of vascular endothelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to amphetamine	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to pain	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of vasoconstriction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within visual learning	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in apical part of cell	ISO Inferred from Sequence Orthology more info
located_in axon	ISO Inferred from Sequence Orthology more info
located_in centriolar satellite	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in dendrite	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in secretory granule lumen	IDA Inferred from Direct Assay more info	PubMed
located_in secretory granule lumen	ISO Inferred from Sequence Orthology more info
is_active_in secretory granule membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in secretory granule membrane	IDA Inferred from Direct Assay more info	PubMed
located_in secretory granule membrane	ISO Inferred from Sequence Orthology more info
located_in terminal bouton	ISO Inferred from Sequence Orthology more info
located_in varicosity	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: dopamine beta-hydroxylase

Names: dopamine beta-monooxygenase

NP_620392.2

EC 1.14.17.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_138942.3 → NP_620392.2 dopamine beta-hydroxylase

See identical proteins and their annotated locations for NP_620392.2

Status: VALIDATED

Source sequence(s)

AK132245, BB109310

Consensus CDS

CCDS38088.1

UniProtKB/Swiss-Prot

Q3V1U4, Q64237

Related

ENSMUSP00000000910.7, ENSMUST00000000910.7

Conserved Domains (3) summary

pfam01082
Location:217 → 344

Cu2_monooxygen; Copper type II ascorbate-dependent monooxygenase, N-terminal domain

pfam03351
Location:61 → 176

DOMON; DOMON domain

pfam03712
Location:365 → 520

Cu2_monoox_C; Copper type II ascorbate-dependent monooxygenase, C-terminal domain