DBH
entrez
1621
canonical
uniprot
P09172
canonical
ensembl
ENSG00000123454
resolver
ensp
ENSP00000376776
resolver
enst
ENST00000393056
resolver
genesymbol
DBH
resolver
hgnc
HGNC:2689
resolver
uniprot
Q5T381
resolver
uniprot
Q96AG2
resolver
uniprot_entry
DOPO_HUMAN
resolver
uniprot_sec
Q5T381
resolver
uniprot_sec
Q96AG2
resolver
amino_acid_sequence
MPALSRWASLPGPSMREAAFMYSTAVAIFLVILVAALQGSAPRESPLPYHIPLDPEGSLELSWNVSYTQEAIHFQLLVRRLKAGVLFGMSDRGELENADLVVLWTDGDTAYFADAWSDQKGQIHLDPQQDYQLLQVQRTPEGLTLLFKRPFGTCDPKDYLIEDGTVHLVYGILEEPFRSLEAINGSGLQMGLQRVQLLKPNIPEPELPSDACTMEVQAPNIQIPSQETTYWCYIKELPKGFSRHHIIKYEPIVTKGNEALVHHMEVFQCAPEMDSVPHFSGPCDSKMKPDRLNYCRHVLAAWALGAKAFYYPEEAGLAFGGPGSSRYLRLEVHYHNPLVIEGRNDSSGIRLYYTAKLRRFNAGIMELGLVYTPVMAIPPRETAFILTGYCTDKCTQLALPPSGIHIFASQLHTHLTGRKVVTVLVRDGREWEIVNQDNHYSPHFQEIRMLKKVVSVHPGDVLITSCTYNTEDRELATVGGFGILEEMCVNYVHYYPQTQLELCKSAVDAGFLQKYFHLINRFNNEDVCTCPQASVSQQFTSVPWNSFNRDVLKALYSFAPISMHCNKSSAVRFQGEWNLQPLPKVISTLEEPTPQCPTSQGRSPAGPTVVSIGGGKG
uniprot
proteins
disease_involvement
DISEASE: Orthostatic hypotension 1 (ORTHYP1) [MIM:223360]: A form of orthostatic hypotension due to congenital dopamine beta-hydroxylase deficiency. Orthostatic hypotension, also known as postural hypotension, is a finding defined as a 20-mm Hg decrease in systolic pressure or a 10-mm Hg decrease in diastolic pressure occurring 3 minutes after a person has risen from supine to standing. Symptoms include dizziness, blurred vision, and sometimes syncope. ORTHYP1 is an autosomal recessive condition apparent from infancy or early childhood and characterized by low plasma and urinary levels of norepinephrine and epinephrine, and episodic hypoglycemia. {ECO:0000269|PubMed:11857564}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.14.17.1
uniprot
proteins
function
FUNCTION: Catalyzes the hydroxylation of dopamine to noradrenaline (also known as norepinephrine), and is thus vital for regulation of these neurotransmitters. {ECO:0000269|PubMed:27148966, ECO:0000269|PubMed:3443096, ECO:0000269|PubMed:7961964, ECO:0000269|PubMed:8546710}.
uniprot
proteins
mass_dalton
69065
uniprot
proteins
pathway_participation
PATHWAY: Catecholamine biosynthesis; (R)-noradrenaline biosynthesis; (R)-noradrenaline from dopamine: step 1/1. {ECO:0000269|PubMed:27148966, ECO:0000269|PubMed:3443096, ECO:0000269|PubMed:8546710}.
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000269|PubMed:27152332, ECO:0000269|PubMed:8546710}.; PTM: Proteolytic cleavage after the membrane-anchor leads to the release of the soluble form. {ECO:0000250|UniProtKB:P15101}.
uniprot
proteins
protein_family
Copper type II ascorbate-dependent monooxygenase family
uniprot
proteins
pubmed
10391209
uniprot
proteins
pubmed
10391210
uniprot
proteins
pubmed
10490716
uniprot
proteins
pubmed
11857564
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16335952
uniprot
proteins
pubmed
19139490
uniprot
proteins
pubmed
27148966
uniprot
proteins
pubmed
27152332
uniprot
proteins
pubmed
2922261
uniprot
proteins
pubmed
3443096
uniprot
proteins
pubmed
7961964
uniprot
proteins
pubmed
8546710
uniprot
proteins
sequence_length
617
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Soluble dopamine beta-hydroxylase]: Cytoplasmic vesicle, secretory vesicle lumen {ECO:0000269|PubMed:7961964}. Cytoplasmic vesicle, secretory vesicle, chromaffin granule lumen {ECO:0000269|PubMed:7961964}. Secreted {ECO:0000269|PubMed:7961964, ECO:0000269|PubMed:8546710}.; SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle membrane {ECO:0000269|PubMed:7961964}; Single-pass type II membrane protein {ECO:0000305}. Cytoplasmic vesicle, secretory vesicle, chromaffin granule membrane {ECO:0000269|PubMed:7961964}; Single-pass type II membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 17..37; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins