BRENDA - Enzyme Database show

Restoring assembly and activity of cystathionine beta-synthase mutants by ligands and chemical chaperones

Kopecka, J.; Krijt, J.; Rakova, K.; Kozich, V.; J. Inherit. Metab. Dis. 34, 39-48 (2011)

Data extracted from this reference:

Activating Compound
EC Number
Activating Compound
Commentary
Organism
Structure
4.2.1.22
betaine
activates, effects on wild-type and mutant enzymes, overview
Homo sapiens
4.2.1.22
delta-aminolevulinic acid
activates, effects on wild-type and mutant enzymes, overview
Homo sapiens
4.2.1.22
glycerol
activates, effects on wild-type and mutant enzymes, overview
Homo sapiens
4.2.1.22
additional information
taurine activates some cystathionine beta-synthase mutants slightly, while it slightly inhibits the wild-type enzyme and other cystathionine beta-synthase mutants
Homo sapiens
Engineering
EC Number
Amino acid exchange
Commentary
Organism
4.2.1.22
A114V
site-directed mutagenesis, mutation at the dimer-dimer interface, the mutant shows a decrease in specific activity compared to the wild-type enzyme
Homo sapiens
4.2.1.22
C165Y
site-directed mutagenesis, the mutant shows an increase in specific activity compared to the wild-type enzyme
Homo sapiens
4.2.1.22
D444N
site-directed mutagenesis, the mutant shows altered activity compared to the wild-type enzyme
Homo sapiens
4.2.1.22
E144K
site-directed mutagenesis, inactive mutant
Homo sapiens
4.2.1.22
E176K
site-directed mutagenesis, the mutant shows a decrease in specific activity compared to the wild-type enzyme
Homo sapiens
4.2.1.22
E302K
site-directed mutagenesis, the mutant shows altered activity compared to the wild-type enzyme
Homo sapiens
4.2.1.22
G148R
site-directed mutagenesis, inactive mutant
Homo sapiens
4.2.1.22
G305R
site-directed mutagenesis, inactive mutant
Homo sapiens
4.2.1.22
G307S
site-directed mutagenesis, inactive mutant
Homo sapiens
4.2.1.22
H65R
site-directed mutagenesis, inactive mutant
Homo sapiens
4.2.1.22
I278T
site-directed mutagenesis, inactive mutant
Homo sapiens
4.2.1.22
I435T
site-directed mutagenesis, the mutant shows an increase in specific activity compared to the wild-type enzyme
Homo sapiens
4.2.1.22
K102N
site-directed mutagenesis, the mutant shows a decrease in specific activity compared to the wild-type enzyme
Homo sapiens
4.2.1.22
L539S
site-directed mutagenesis, inactive mutant, the mutant shows altered activity compared to the wild-type enzyme
Homo sapiens
4.2.1.22
additional information
effects of delta-aminolevulinic acid, betaine, glycerol and taurine on amounts of tetramers/oligomers of the cystathionine beta-synthase mutants, overview
Homo sapiens
4.2.1.22
N228K
site-directed mutagenesis, inactive mutant
Homo sapiens
4.2.1.22
P422L
site-directed mutagenesis, mutation in the regulatory domain, the mutant shows an increase in specific activity compared to the wild-type enzyme
Homo sapiens
4.2.1.22
P49L
site-directed mutagenesis
Homo sapiens
4.2.1.22
P78R
site-directed mutagenesis, mutation at the dimer-dimer interface
Homo sapiens
4.2.1.22
R125Q
site-directed mutagenesis, the mutant shows a decrease in specific activity compared to the wild-type enzyme
Homo sapiens
4.2.1.22
R266K
site-directed mutagenesis, inactive mutant
Homo sapiens
4.2.1.22
R369C
site-directed mutagenesis, the mutant shows a decrease in specific activity compared to the wild-type enzyme
Homo sapiens
4.2.1.22
R439Q
site-directed mutagenesis, the mutant shows altered activity compared to the wild-type enzyme
Homo sapiens
4.2.1.22
S466L
site-directed mutagenesis, mutation in the regulatory domain, the mutant shows an increase in specific activity compared to the wild-type enzyme
Homo sapiens
4.2.1.22
T191M
site-directed mutagenesis, inactive mutant
Homo sapiens
4.2.1.22
T262R
site-directed mutagenesis, inactive mutant
Homo sapiens
4.2.1.22
V180A
site-directed mutagenesis, mutation at the dimer-dimer interface, the mutant shows a decrease in specific activity compared to the wild-type enzyme
Homo sapiens
4.2.1.22
W409_G453del
site-directed mutagenesis, inactive mutant
Homo sapiens
Inhibitors
EC Number
Inhibitors
Commentary
Organism
Structure
4.2.1.22
additional information
taurine activates some cystathionine beta-synthase mutants slightly, while it slightly inhibits the wild-type enzyme and other cystathionine beta-synthase mutants
Homo sapiens
Localization
EC Number
Localization
Commentary
Organism
GeneOntology No.
Textmining
4.2.1.22
cytosol
-
Homo sapiens
5829
-
Natural Substrates/ Products (Substrates)
EC Number
Natural Substrates
Organism
Commentary (Nat. Sub.)
Natural Products
Commentary (Nat. Pro.)
Organism (Nat. Pro.)
Reversibility
4.2.1.22
L-serine + L-homocysteine
Homo sapiens
-
L-cystathionine + H2O
-
-
?
Organism
EC Number
Organism
Primary Accession No. (UniProt)
Commentary
Textmining
4.2.1.22
Homo sapiens
-
-
-
Specific Activity [micromol/min/mg]
EC Number
Specific Activity Minimum [µmol/min/mg]
Specific Activity Maximum [µmol/min/mg]
Commentary
Organism
4.2.1.22
additional information
-
specific activities of wild-type and mutants in presence of activators, overview
Homo sapiens
Substrates and Products (Substrate)
EC Number
Substrates
Commentary Substrates
Literature (Substrates)
Organism
Products
Commentary (Products)
Literature (Products)
Organism (Products)
Reversibility
4.2.1.22
L-serine + L-homocysteine
-
715808
Homo sapiens
L-cystathionine + H2O
-
-
-
?
Subunits
EC Number
Subunits
Commentary
Organism
4.2.1.22
homotetramer
-
Homo sapiens
Temperature Optimum [°C]
EC Number
Temperature Optimum [°C]
Temperature Optimum Maximum [°C]
Commentary
Organism
4.2.1.22
37
-
assay at
Homo sapiens
Cofactor
EC Number
Cofactor
Commentary
Organism
Structure
4.2.1.22
heme
role of heme in cystathionine beta-synthase folding
Homo sapiens
4.2.1.22
pyridoxal 5'-phosphate
-
Homo sapiens
Activating Compound (protein specific)
EC Number
Activating Compound
Commentary
Organism
Structure
4.2.1.22
betaine
activates, effects on wild-type and mutant enzymes, overview
Homo sapiens
4.2.1.22
delta-aminolevulinic acid
activates, effects on wild-type and mutant enzymes, overview
Homo sapiens
4.2.1.22
glycerol
activates, effects on wild-type and mutant enzymes, overview
Homo sapiens
4.2.1.22
additional information
taurine activates some cystathionine beta-synthase mutants slightly, while it slightly inhibits the wild-type enzyme and other cystathionine beta-synthase mutants
Homo sapiens
Cofactor (protein specific)
EC Number
Cofactor
Commentary
Organism
Structure
4.2.1.22
heme
role of heme in cystathionine beta-synthase folding
Homo sapiens
4.2.1.22
pyridoxal 5'-phosphate
-
Homo sapiens
Engineering (protein specific)
EC Number
Amino acid exchange
Commentary
Organism
4.2.1.22
A114V
site-directed mutagenesis, mutation at the dimer-dimer interface, the mutant shows a decrease in specific activity compared to the wild-type enzyme
Homo sapiens
4.2.1.22
C165Y
site-directed mutagenesis, the mutant shows an increase in specific activity compared to the wild-type enzyme
Homo sapiens
4.2.1.22
D444N
site-directed mutagenesis, the mutant shows altered activity compared to the wild-type enzyme
Homo sapiens
4.2.1.22
E144K
site-directed mutagenesis, inactive mutant
Homo sapiens
4.2.1.22
E176K
site-directed mutagenesis, the mutant shows a decrease in specific activity compared to the wild-type enzyme
Homo sapiens
4.2.1.22
E302K
site-directed mutagenesis, the mutant shows altered activity compared to the wild-type enzyme
Homo sapiens
4.2.1.22
G148R
site-directed mutagenesis, inactive mutant
Homo sapiens
4.2.1.22
G305R
site-directed mutagenesis, inactive mutant
Homo sapiens
4.2.1.22
G307S
site-directed mutagenesis, inactive mutant
Homo sapiens
4.2.1.22
H65R
site-directed mutagenesis, inactive mutant
Homo sapiens
4.2.1.22
I278T
site-directed mutagenesis, inactive mutant
Homo sapiens
4.2.1.22
I435T
site-directed mutagenesis, the mutant shows an increase in specific activity compared to the wild-type enzyme
Homo sapiens
4.2.1.22
K102N
site-directed mutagenesis, the mutant shows a decrease in specific activity compared to the wild-type enzyme
Homo sapiens
4.2.1.22
L539S
site-directed mutagenesis, inactive mutant, the mutant shows altered activity compared to the wild-type enzyme
Homo sapiens
4.2.1.22
additional information
effects of delta-aminolevulinic acid, betaine, glycerol and taurine on amounts of tetramers/oligomers of the cystathionine beta-synthase mutants, overview
Homo sapiens
4.2.1.22
N228K
site-directed mutagenesis, inactive mutant
Homo sapiens
4.2.1.22
P422L
site-directed mutagenesis, mutation in the regulatory domain, the mutant shows an increase in specific activity compared to the wild-type enzyme
Homo sapiens
4.2.1.22
P49L
site-directed mutagenesis
Homo sapiens
4.2.1.22
P78R
site-directed mutagenesis, mutation at the dimer-dimer interface
Homo sapiens
4.2.1.22
R125Q
site-directed mutagenesis, the mutant shows a decrease in specific activity compared to the wild-type enzyme
Homo sapiens
4.2.1.22
R266K
site-directed mutagenesis, inactive mutant
Homo sapiens
4.2.1.22
R369C
site-directed mutagenesis, the mutant shows a decrease in specific activity compared to the wild-type enzyme
Homo sapiens
4.2.1.22
R439Q
site-directed mutagenesis, the mutant shows altered activity compared to the wild-type enzyme
Homo sapiens
4.2.1.22
S466L
site-directed mutagenesis, mutation in the regulatory domain, the mutant shows an increase in specific activity compared to the wild-type enzyme
Homo sapiens
4.2.1.22
T191M
site-directed mutagenesis, inactive mutant
Homo sapiens
4.2.1.22
T262R
site-directed mutagenesis, inactive mutant
Homo sapiens
4.2.1.22
V180A
site-directed mutagenesis, mutation at the dimer-dimer interface, the mutant shows a decrease in specific activity compared to the wild-type enzyme
Homo sapiens
4.2.1.22
W409_G453del
site-directed mutagenesis, inactive mutant
Homo sapiens
Inhibitors (protein specific)
EC Number
Inhibitors
Commentary
Organism
Structure
4.2.1.22
additional information
taurine activates some cystathionine beta-synthase mutants slightly, while it slightly inhibits the wild-type enzyme and other cystathionine beta-synthase mutants
Homo sapiens
Localization (protein specific)
EC Number
Localization
Commentary
Organism
GeneOntology No.
Textmining
4.2.1.22
cytosol
-
Homo sapiens
5829
-
Natural Substrates/ Products (Substrates) (protein specific)
EC Number
Natural Substrates
Organism
Commentary (Nat. Sub.)
Natural Products
Commentary (Nat. Pro.)
Organism (Nat. Pro.)
Reversibility
4.2.1.22
L-serine + L-homocysteine
Homo sapiens
-
L-cystathionine + H2O
-
-
?
Specific Activity [micromol/min/mg] (protein specific)
EC Number
Specific Activity Minimum [µmol/min/mg]
Specific Activity Maximum [µmol/min/mg]
Commentary
Organism
4.2.1.22
additional information
-
specific activities of wild-type and mutants in presence of activators, overview
Homo sapiens
Substrates and Products (Substrate) (protein specific)
EC Number
Substrates
Commentary Substrates
Literature (Substrates)
Organism
Products
Commentary (Products)
Literature (Products)
Organism (Products)
Reversibility
4.2.1.22
L-serine + L-homocysteine
-
715808
Homo sapiens
L-cystathionine + H2O
-
-
-
?
Subunits (protein specific)
EC Number
Subunits
Commentary
Organism
4.2.1.22
homotetramer
-
Homo sapiens
Temperature Optimum [°C] (protein specific)
EC Number
Temperature Optimum [°C]
Temperature Optimum Maximum [°C]
Commentary
Organism
4.2.1.22
37
-
assay at
Homo sapiens