Seroatlas · Human Serome Atlas

DBH

Dopamine beta-hydroxylase

Also known as: DBM, DOPO_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P09172
Gene
DBH
Ensembl
ENSG00000123454
Chromosome
9
Canonical length
617 aa
Protein class
Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins
Subcellular location
Endoplasmic reticulum,Vesicles
Secretome location
Intracellular and membrane
Quaternary structure
Homotetramer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

617 residues, UniProt reviewed canonical sequence.

>P09172|DBH
     1  MPALSRWASL PGPSMREAAF MYSTAVAIFL VILVAALQGS APRESPLPYH IPLDPEGSLE
    61  LSWNVSYTQE AIHFQLLVRR LKAGVLFGMS DRGELENADL VVLWTDGDTA YFADAWSDQK
   121  GQIHLDPQQD YQLLQVQRTP EGLTLLFKRP FGTCDPKDYL IEDGTVHLVY GILEEPFRSL
   181  EAINGSGLQM GLQRVQLLKP NIPEPELPSD ACTMEVQAPN IQIPSQETTY WCYIKELPKG
   241  FSRHHIIKYE PIVTKGNEAL VHHMEVFQCA PEMDSVPHFS GPCDSKMKPD RLNYCRHVLA
   301  AWALGAKAFY YPEEAGLAFG GPGSSRYLRL EVHYHNPLVI EGRNDSSGIR LYYTAKLRRF
   361  NAGIMELGLV YTPVMAIPPR ETAFILTGYC TDKCTQLALP PSGIHIFASQ LHTHLTGRKV
   421  VTVLVRDGRE WEIVNQDNHY SPHFQEIRML KKVVSVHPGD VLITSCTYNT EDRELATVGG
   481  FGILEEMCVN YVHYYPQTQL ELCKSAVDAG FLQKYFHLIN RFNNEDVCTC PQASVSQQFT
   541  SVPWNSFNRD VLKALYSFAP ISMHCNKSSA VRFQGEWNLQ PLPKVISTLE EPTPQCPTSQ
   601  GRSPAGPTVV SIGGGKG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DBH can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Secreted
Secreted
Yes
Transmembrane segments
1
Mean surface accessibility (rSASA)
0.27
Highest tissue expression
257 nTPM

Expression across tissuesHPA

Tissue

  • adrenal gland: 257 nTPM
  • liver: 35 nTPM
  • pancreas: 4 nTPM
  • adipose tissue: 2.6 nTPM
  • kidney: 2.2 nTPM
  • lymph node: 2.1 nTPM

Single-cell type

  • adrenal medulla cells: 894 nCPM
  • hepatic stellate cells: 97 nCPM
  • oocytes: 92 nCPM
  • adrenal cortex cells: 2.1 nCPM
  • epididymal principal cells: 1.9 nCPM
  • leydig cells: 1.5 nCPM

Immune cell

  • naive CD4 T-cell: 0.2 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM

Brain region

  • pons: 513 nTPM
  • medulla oblongata: 23 nTPM
  • cerebral cortex: 4.2 nTPM
  • hypothalamus: 4 nTPM
  • white matter: 4 nTPM
  • basal ganglia: 3 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DBH.

Disease | AllUniProt

Conditions DBH is implicated in, by any mechanism.

Disease | GeneticClinVar

10 pathogenic / likely-pathogenic of 558 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1
gnomAD pLI
0
gnomAD missense Z
-1.13
DepMap mean gene effect
0
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DBH as an antibody target. Whether an autoantibody or antibody against DBH could matter depends on whether native DBH is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DBH is annotated as secreted, so native DBH circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label DBH as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/DBH. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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