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DBH dopamine beta-hydroxylase [ Homo sapiens (human) ]

Gene ID: 1621, updated on 21-Mar-2023

Summary

Official Symbol
DBHprovided by HGNC
Official Full Name
dopamine beta-hydroxylaseprovided by HGNC
Primary source
HGNC:HGNC:2689
See related
Ensembl:ENSG00000123454 MIM:609312; AllianceGenome:HGNC:2689
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DBM; ORTHYP1
Summary
The protein encoded by this gene is an oxidoreductase belonging to the copper type II, ascorbate-dependent monooxygenase family. The encoded protein, expressed in neuroscretory vesicles and chromaffin granules of the adrenal medulla, catalyzes the conversion of dopamine to norepinephrine, which functions as both a hormone and as the main neurotransmitter of the sympathetic nervous system. The enzyme encoded by this gene exists exists in both soluble and membrane-bound forms, depending on the absence or presence, respectively, of a signal peptide. Mutations in this gene cause dopamine beta-hydroxylate deficiency in human patients, characterized by deficits in autonomic and cardiovascular function, including hypotension and ptosis. Polymorphisms in this gene may play a role in a variety of psychiatric disorders. [provided by RefSeq, Aug 2017]
Expression
Biased expression in adrenal (RPKM 148.5) and liver (RPKM 11.0) See more
Orthologs
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Genomic context

See DBH in Genome Data Viewer
Location:
9q34.2
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (133636363..133659329)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (145852365..145875347)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (136501485..136524451)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ADAMTS like 2 Neighboring gene uncharacterized LOC124902296 Neighboring gene family with sequence similarity 163 member B Neighboring gene DBH antisense RNA 1 Neighboring gene SARDH intron CAGE-defined T cell enhancer Neighboring gene sarcosine dehydrogenase Neighboring gene Sharpr-MPRA regulatory region 10163

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables L-ascorbic acid binding IEA
Inferred from Electronic Annotation
more info
 
enables catalytic activity TAS
Traceable Author Statement
more info
PubMed 
enables copper ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables copper ion binding IDA
Inferred from Direct Assay
more info
PubMed 
enables dopamine beta-monooxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables dopamine beta-monooxygenase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in behavioral response to ethanol IEA
Inferred from Electronic Annotation
more info
 
involved_in blood vessel remodeling IEA
Inferred from Electronic Annotation
more info
 
involved_in chemical synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
involved_in dopamine catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in dopamine catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in fear response IEA
Inferred from Electronic Annotation
more info
 
involved_in glucose homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in homoiothermy IEA
Inferred from Electronic Annotation
more info
 
involved_in leukocyte mediated immunity IEA
Inferred from Electronic Annotation
more info
 
involved_in leukocyte migration IEA
Inferred from Electronic Annotation
more info
 
involved_in locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
involved_in maternal behavior IEA
Inferred from Electronic Annotation
more info
 
involved_in memory IEA
Inferred from Electronic Annotation
more info
 
involved_in norepinephrine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in norepinephrine biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in norepinephrine biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in octopamine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in positive regulation of vasoconstriction IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of extrinsic apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of vascular associated smooth muscle cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of vascular endothelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in response to amphetamine IEA
Inferred from Electronic Annotation
more info
 
involved_in response to pain IEA
Inferred from Electronic Annotation
more info
 
involved_in vasoconstriction IEA
Inferred from Electronic Annotation
more info
 
involved_in visual learning IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in centriolar satellite IDA
Inferred from Direct Assay
more info
 
located_in chromaffin granule lumen IEA
Inferred from Electronic Annotation
more info
 
located_in chromaffin granule membrane IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasm TAS
Traceable Author Statement
more info
PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
located_in extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in membrane TAS
Traceable Author Statement
more info
PubMed 
located_in secretory granule lumen IDA
Inferred from Direct Assay
more info
PubMed 
located_in secretory granule lumen TAS
Traceable Author Statement
more info
 
is_active_in secretory granule membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in secretory granule membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in synapse IEA
Inferred from Electronic Annotation
more info
 
located_in transport vesicle membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
dopamine beta-hydroxylase
Names
dopamine beta-hydroxylase (dopamine beta-monooxygenase)
NP_000778.3

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.

Genomic

  1. NG_008645.1 RefSeqGene

    Range
    5001..27967
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000787.4NP_000778.3  dopamine beta-hydroxylase precursor

    See identical proteins and their annotated locations for NP_000778.3

    Status: REVIEWED

    Source sequence(s)
    AL365494, BC017174, CD014125, X13255
    Consensus CDS
    CCDS6977.2
    UniProtKB/Swiss-Prot
    P09172, Q96AG2
    Related
    ENSP00000376776.2, ENST00000393056.8
    Conserved Domains (3) summary
    pfam01082
    Location:213337
    Cu2_monooxygen; Copper type II ascorbate-dependent monooxygenase, N-terminal domain
    pfam03351
    Location:57172
    DOMON; DOMON domain
    pfam03712
    Location:362516
    Cu2_monoox_C; Copper type II ascorbate-dependent monooxygenase, C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    133636363..133659329
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    145852365..145875347
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)