Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary for 1.14.17.1 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
Search for more literature for 1.14.17.1

Cloned(Commentary)

Cloned (Comment) Organism
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

Protein Variants Comment Organism
A318S site-directed mutagenesis, the enzyme shows a marginal decrease in homospecific activity Homo sapiens
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
L317P site-directed mutagenesis, the mutant shows secretory deficiency and is localized in the endoplasmic reticulum Homo sapiens
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
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

Metals/Ions Comment Organism Structure
Cu2+ required Homo sapiens

Natural Substrates/ Products (Substrates)

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

Organism

Organism UniProt Comment Textmining
Homo sapiens P09172
-
-

Substrates and Products (Substrate)

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

Synonyms

Synonyms Comment Organism
DBH
-
 Homo sapiens
dopamine-beta-hydroxylase
-
 Homo sapiens

Temperature Optimum [°C]

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

pH Optimum

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

Cofactor

Cofactor Comment Organism Structure
ascorbate
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction genotype-phenotype correlations. Mutant L317P shows secretory deficiency and is localized in the endoplasmic reticulum Homo sapiens
additional information enzyme structure-function relationship, overview Homo sapiens
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