• Gene id: 1621

Gene Summary

• Gene Symbol: DBH   Gene   UCSC   Ensembl
• Aliases: DBM, ORTHYP1
• Gene name: dopamine beta-hydroxylase
• Alternate names: dopamine beta-hydroxylase, dopamine beta-hydroxylase (dopamine beta-monooxygenase),
• Gene location: 9q34.2 (133636362: 133659328)     Exons: 12     NC_000009.12
• Gene summary(Entrez): 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 convers
• OMIM: 607066

Protein Summary

• Protein general information: P09172  
  • Name: Dopamine beta hydroxylase (EC 1.14.17.1) (Dopamine beta monooxygenase) [Cleaved into: Soluble dopamine beta hydroxylase]
  • Length: 617  
  • Mass: 69065
• Sequence:

  MPALSRWASLPGPSMREAAFMYSTAVAIFLVILVAALQGSAPRESPLPYHIPLDPEGSLELSWNVSYTQEAIHFQ
  LLVRRLKAGVLFGMSDRGELENADLVVLWTDGDTAYFADAWSDQKGQIHLDPQQDYQLLQVQRTPEGLTLLFKRP
  FGTCDPKDYLIEDGTVHLVYGILEEPFRSLEAINGSGLQMGLQRVQLLKPNIPEPELPSDACTMEVQAPNIQIPS
  QETTYWCYIKELPKGFSRHHIIKYEPIVTKGNEALVHHMEVFQCAPEMDSVPHFSGPCDSKMKPDRLNYCRHVLA
  AWALGAKAFYYPEEAGLAFGGPGSSRYLRLEVHYHNPLVIEGRNDSSGIRLYYTAKLRRFNAGIMELGLVYTPVM
  AIPPRETAFILTGYCTDKCTQLALPPSGIHIFASQLHTHLTGRKVVTVLVRDGREWEIVNQDNHYSPHFQEIRML
  KKVVSVHPGDVLITSCTYNTEDRELATVGGFGILEEMCVNYVHYYPQTQLELCKSAVDAGFLQKYFHLINRFNNE
  DVCTCPQASVSQQFTSVPWNSFNRDVLKALYSFAPISMHCNKSSAVRFQGEWNLQPLPKVISTLEEPTPQCPTSQ
  GRSPAGPTVVSIGGGKG

• Structural information:
  • Protein Domains: (57..17-)
    (/note="DOMON-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00246"-)
  • Interpro: IPR014784  IPR020611  IPR014783  IPR000323  IPR036939   IPR024548  IPR005018  IPR008977  IPR028460  
  • Prosite: PS00084 PS00085 PS50836
  • PDB: 4ZEL
  • PDBsum: 4ZEL
  • STRING: ENSP00000376776
• Other Databases: GeneCards:  DBH  Malacards:  DBH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004500	dopamine beta-monooxygenase activity	IBA	molecular function
GO:0005507	copper ion binding	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0016715	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	molecular function
GO:0042420	dopamine catabolic process	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0006589	octopamine biosynthetic process	IBA	biological process
GO:0030667	secretory granule membrane	IBA	cellular component
GO:0042421	norepinephrine biosynthetic process	IBA	biological process
GO:0005507	copper ion binding	IDA	molecular function
GO:0004500	dopamine beta-monooxygenase activity	IDA	molecular function
GO:0042420	dopamine catabolic process	IDA	biological process
GO:0004500	dopamine beta-monooxygenase activity	IDA	molecular function
GO:0042420	dopamine catabolic process	IDA	biological process
GO:0005507	copper ion binding	IDA	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0034774	secretory granule lumen	IDA	cellular component
GO:0030667	secretory granule membrane	IDA	cellular component
GO:0042421	norepinephrine biosynthetic process	IMP	biological process
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0004500	dopamine beta-monooxygenase activity	IEA	molecular function
GO:0005507	copper ion binding	IEA	molecular function
GO:0016715	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	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0031418	L-ascorbic acid binding	IEA	molecular function
GO:0042423	catecholamine biosynthetic process	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0003824	catalytic activity	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0016020	membrane	TAS	cellular component
GO:0007268	chemical synaptic transmission	TAS	biological process
GO:0004500	dopamine beta-monooxygenase activity	IEA	molecular function
GO:0034774	secretory granule lumen	TAS	cellular component
GO:0042423	catecholamine biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0050900	leukocyte migration	IEA	biological process
GO:0042596	fear response	IEA	biological process
GO:0042593	glucose homeostasis	IEA	biological process
GO:0042420	dopamine catabolic process	IEA	biological process
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0034774	secretory granule lumen	IEA	cellular component
GO:0007626	locomotory behavior	IEA	biological process
GO:0007613	memory	IEA	biological process
GO:0002443	leukocyte mediated immunity	IEA	biological process
GO:0001975	response to amphetamine	IEA	biological process
GO:0001974	blood vessel remodeling	IEA	biological process
GO:2001236	regulation of extrinsic apoptotic signaling pathway	IEA	biological process
GO:0120162	positive regulation of cold-induced thermogenesis	IEA	biological process
GO:0048265	response to pain	IEA	biological process
GO:0048149	behavioral response to ethanol	IEA	biological process
GO:0045907	positive regulation of vasoconstriction	IEA	biological process
GO:0042711	maternal behavior	IEA	biological process
GO:0042421	norepinephrine biosynthetic process	IEA	biological process
GO:0042309	homoiothermy	IEA	biological process
GO:0030667	secretory granule membrane	IEA	cellular component
GO:0008542	visual learning	IEA	biological process
GO:0008306	associative learning	IEA	biological process
GO:0001816	cytokine production	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0042584	chromaffin granule membrane	IEA	cellular component
GO:0030658	transport vesicle membrane	IEA	cellular component
GO:0034466	chromaffin granule lumen	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0034451	centriolar satellite	IDA	cellular component
GO:0120162	positive regulation of cold-induced thermogenesis	ISS	biological process
GO:0045202	synapse	IEA	cellular component
GO:0042421	norepinephrine biosynthetic process	IEA	biological process
GO:0005576	extracellular region	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00350	Tyrosine metabolism

Diseases

Associated diseases	References
Dopamine beta-hydroxylase deficiency	KEGG:H01005
Dopamine beta-hydroxylase deficiency	KEGG:H01005
migraine with aura	PMID:17095019
Hypertension	PMID:20814407
Attention deficit hyperactivity disorder	PMID:12707943
Parkinson's disease	PMID:19276553
Parkinson's disease	PMID:14991826
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq