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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Enzymes FDA approved drug targets Human disease related genes Metabolic proteins Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
9
Cytoband
q34.2
Chromosome location (bp)
133636363 - 133659329
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Catalyzes the hydroxylation of dopamine to noradrenaline (also known as norepinephrine), and is thus vital for regulation of these neurotransmitters....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Monooxygenase, Oxidoreductase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Catecholamine biosynthesis
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Copper, Metal-binding, Vitamin C
Gene summary (Entrez)i
Useful information about the gene from 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 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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Metabolic proteins MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
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GO:0003824[catalytic activity] GO:0004497[monooxygenase activity] GO:0004500[dopamine beta-monooxygenase activity] GO:0005507[copper ion binding] GO:0016020[membrane] 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] GO:0030658[transport vesicle membrane] GO:0031418[L-ascorbic acid binding] GO:0034466[chromaffin granule lumen] GO:0042421[norepinephrine biosynthetic process] GO:0042584[chromaffin granule membrane] GO:0046872[metal ion binding]
Enzymes ENZYME proteins Oxidoreductases Metabolic proteins MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Nervous system diseases Other nervous and sensory system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001974[blood vessel remodeling] GO:0001975[response to amphetamine] GO:0002443[leukocyte mediated immunity] GO:0003824[catalytic activity] GO:0004497[monooxygenase activity] GO:0004500[dopamine beta-monooxygenase activity] GO:0005507[copper ion binding] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0005737[cytoplasm] GO:0005783[endoplasmic reticulum] GO:0006589[octopamine biosynthetic process] GO:0007268[chemical synaptic transmission] GO:0007613[memory] GO:0007626[locomotory behavior] GO:0008306[associative learning] GO:0008542[visual learning] GO:0016020[membrane] GO:0016491[oxidoreductase activity] 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] GO:0030658[transport vesicle membrane] GO:0030667[secretory granule membrane] GO:0031410[cytoplasmic vesicle] GO:0031418[L-ascorbic acid binding] GO:0034451[centriolar satellite] GO:0034466[chromaffin granule lumen] GO:0034774[secretory granule lumen] GO:0042309[homoiothermy] GO:0042310[vasoconstriction] GO:0042420[dopamine catabolic process] GO:0042421[norepinephrine biosynthetic process] GO:0042423[catecholamine biosynthetic process] GO:0042584[chromaffin granule membrane] GO:0042593[glucose homeostasis] GO:0042596[fear response] GO:0042711[maternal behavior] GO:0043231[intracellular membrane-bounded organelle] GO:0045202[synapse] GO:0045907[positive regulation of vasoconstriction] GO:0046872[metal ion binding] GO:0048149[behavioral response to ethanol] GO:0048265[response to pain] GO:0050900[leukocyte migration] GO:0120162[positive regulation of cold-induced thermogenesis] GO:1904705[regulation of vascular associated smooth muscle cell proliferation] GO:1905562[regulation of vascular endothelial cell proliferation] GO:2001236[regulation of extrinsic apoptotic signaling pathway]
The Human Protein Atlas project is funded
