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Literature summary extracted from

  • Punchaichira, T.J.; Dey, S.K.; Mukhopadhyay, A.; Kundu, S.; Thelma, B.K.
    Characterization of SNPs in the dopamine-beta-hydroxylase gene providing new insights into its structure-function relationship (2017), Neurogenetics, 18, 155-168 .
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
1.14.17.1 gene dbh, recombinant expression of wild-type and mutant enzymes in HEK293 cells, generation of transient and stable lines expressing the mutant variant enzymes, genotype-phenotype correlations Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
1.14.17.1 A318S site-directed mutagenesis, the enzyme shows a marginal decrease in homospecific activity Homo sapiens
1.14.17.1 D460N site-directed mutagenesis, the mutant shows reduced expression levels compared to the wild-type enzyme, the mutant shows reduced expression levels compared to the wild-type enzyme Homo sapiens
1.14.17.1 L317P site-directed mutagenesis, the mutant shows secretory deficiency and is localized in the endoplasmic reticulum Homo sapiens
1.14.17.1 R549C site-directed mutagenesis, the enzyme shows a marginal decrease in homospecific activity, the mutant shows partial secretory deficiency and is localized in the endoplasmic reticulum Homo sapiens
1.14.17.1 W544S site-directed mutagenesis, the enzyme shows a marginal decrease in homospecific activity, the mutant shows reduced expression levels compared to the wild-type enzyme Homo sapiens

Metals/Ions

EC Number Metals/Ions Comment Organism Structure
1.14.17.1 Cu2+ required Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
1.14.17.1 dopamine + ascorbate + O2 Homo sapiens
-
 noradrenaline + dehydroascorbate + H2O
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
1.14.17.1 Homo sapiens P09172
-
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.14.17.1 dopamine + ascorbate + O2
-
 Homo sapiens noradrenaline + dehydroascorbate + H2O
-
 ?

Synonyms

EC Number Synonyms Comment Organism
1.14.17.1 DBH
-
 Homo sapiens
1.14.17.1 dopamine-beta-hydroxylase
-
 Homo sapiens

Temperature Optimum [°C]

EC Number Temperature Optimum [°C] Temperature Optimum Maximum [°C] Comment Organism
1.14.17.1 37
-
 assay at Homo sapiens

pH Optimum

EC Number pH Optimum Minimum pH Optimum Maximum Comment Organism
1.14.17.1 5.2
-
 assay at Homo sapiens

Cofactor

EC Number Cofactor Comment Organism Structure
1.14.17.1 ascorbate
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
1.14.17.1 malfunction genotype-phenotype correlations. Mutant L317P shows secretory deficiency and is localized in the endoplasmic reticulum Homo sapiens
1.14.17.1 additional information enzyme structure-function relationship, overview Homo sapiens
1.14.17.1 physiological function dopamine-beta-hydroxylase (DBH) is an oxidoreductase that is primarily responsible for the conversion of dopamine to norepinephrine. DBH is widely regarded as a disease-modifying gene in psychiatric diseases Homo sapiens