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

Gene ID: 1621, updated on 7-Apr-2019

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
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

Genomic context

See DBH in Genome Data Viewer
Location:
9q34.2
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (133636363..133659344)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (136501485..136524466)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ADAMTS like 2 Neighboring gene family with sequence similarity 163 member B Neighboring gene uncharacterized LOC105376308 Neighboring gene DBH antisense RNA 1 Neighboring gene SARDH intron CAGE-defined T cell enhancer Neighboring gene sarcosine dehydrogenase

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
L-ascorbic acid binding IEA
Inferred from Electronic Annotation
more info
 
catalytic activity TAS
Traceable Author Statement
more info
PubMed 
copper ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
copper ion binding IDA
Inferred from Direct Assay
more info
PubMed 
dopamine beta-monooxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dopamine beta-monooxygenase activity IDA
Inferred from Direct Assay
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
behavioral response to ethanol IEA
Inferred from Electronic Annotation
more info
 
blood vessel remodeling IEA
Inferred from Electronic Annotation
more info
 
catecholamine biosynthetic process TAS
Traceable Author Statement
more info
 
chemical synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
cytokine production IEA
Inferred from Electronic Annotation
more info
 
dopamine catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dopamine catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
fear response IEA
Inferred from Electronic Annotation
more info
 
glucose homeostasis IEA
Inferred from Electronic Annotation
more info
 
homoiothermy IEA
Inferred from Electronic Annotation
more info
 
leukocyte mediated immunity IEA
Inferred from Electronic Annotation
more info
 
leukocyte migration IEA
Inferred from Electronic Annotation
more info
 
locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
maternal behavior IEA
Inferred from Electronic Annotation
more info
 
memory IEA
Inferred from Electronic Annotation
more info
 
norepinephrine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
norepinephrine biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
norepinephrine biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
octopamine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of vasoconstriction IEA
Inferred from Electronic Annotation
more info
 
regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
regulation of extrinsic apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
 
response to amphetamine IEA
Inferred from Electronic Annotation
more info
 
response to pain IEA
Inferred from Electronic Annotation
more info
 
visual learning IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
chromaffin granule lumen IEA
Inferred from Electronic Annotation
more info
 
chromaffin granule membrane IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
membrane TAS
Traceable Author Statement
more info
PubMed 
microtubule organizing center IDA
Inferred from Direct Assay
more info
 
secretory granule lumen IDA
Inferred from Direct Assay
more info
PubMed 
secretory granule lumen TAS
Traceable Author Statement
more info
 
secretory granule membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
secretory granule membrane IDA
Inferred from Direct Assay
more info
PubMed 
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)

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..27982
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000787.3NP_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
    Related
    ENSP00000376776.2, ENST00000393056.7
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    133636363..133659344
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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