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Literature summary for 4.2.1.22 extracted from

  • Kopecka, J.; Krijt, J.; Rakova, K.; Kozich, V.
    Restoring assembly and activity of cystathionine beta-synthase mutants by ligands and chemical chaperones (2011), J. Inherit. Metab. Dis., 34, 39-48.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 4.2.1.22

Activating Compound

Activating Compound Comment Organism Structure
betaine activates, effects on wild-type and mutant enzymes, overview Homo sapiens
delta-aminolevulinic acid activates, effects on wild-type and mutant enzymes, overview Homo sapiens
glycerol activates, effects on wild-type and mutant enzymes, overview Homo sapiens
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

Protein Variants

Protein Variants Comment Organism
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
C165Y site-directed mutagenesis, the mutant shows an increase in specific activity compared to the wild-type enzyme Homo sapiens
D444N site-directed mutagenesis, the mutant shows altered activity compared to the wild-type enzyme Homo sapiens
E144K site-directed mutagenesis, inactive mutant Homo sapiens
E176K site-directed mutagenesis, the mutant shows a decrease in specific activity compared to the wild-type enzyme Homo sapiens
E302K site-directed mutagenesis, the mutant shows altered activity compared to the wild-type enzyme Homo sapiens
G148R site-directed mutagenesis, inactive mutant Homo sapiens
G305R site-directed mutagenesis, inactive mutant Homo sapiens
G307S site-directed mutagenesis, inactive mutant Homo sapiens
H65R site-directed mutagenesis, inactive mutant Homo sapiens
I278T site-directed mutagenesis, inactive mutant Homo sapiens
I435T site-directed mutagenesis, the mutant shows an increase in specific activity compared to the wild-type enzyme Homo sapiens
K102N site-directed mutagenesis, the mutant shows a decrease in specific activity compared to the wild-type enzyme Homo sapiens
L539S site-directed mutagenesis, inactive mutant, the mutant shows altered activity compared to the wild-type enzyme Homo sapiens
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
N228K site-directed mutagenesis, inactive mutant Homo sapiens
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
P49L site-directed mutagenesis Homo sapiens
P78R site-directed mutagenesis, mutation at the dimer-dimer interface Homo sapiens
R125Q site-directed mutagenesis, the mutant shows a decrease in specific activity compared to the wild-type enzyme Homo sapiens
R266K site-directed mutagenesis, inactive mutant Homo sapiens
R369C site-directed mutagenesis, the mutant shows a decrease in specific activity compared to the wild-type enzyme Homo sapiens
R439Q site-directed mutagenesis, the mutant shows altered activity compared to the wild-type enzyme Homo sapiens
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
T191M site-directed mutagenesis, inactive mutant Homo sapiens
T262R site-directed mutagenesis, inactive mutant Homo sapiens
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
W409_G453del site-directed mutagenesis, inactive mutant Homo sapiens

Inhibitors

Inhibitors Comment Organism Structure
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

Localization Comment Organism GeneOntology No. Textmining
cytosol
-
 Homo sapiens 5829
-

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
L-serine + L-homocysteine Homo sapiens
-
 L-cystathionine + H2O
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Specific Activity [micromol/min/mg]

Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
additional information
-
 specific activities of wild-type and mutants in presence of activators, overview Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
L-serine + L-homocysteine
-
 Homo sapiens L-cystathionine + H2O
-
 ?

Subunits

Subunits Comment Organism
homotetramer
-
 Homo sapiens

Synonyms

Synonyms Comment Organism
CBS
-
 Homo sapiens

Temperature Optimum [°C]

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

Cofactor

Cofactor Comment Organism Structure
heme role of heme in cystathionine beta-synthase folding Homo sapiens
pyridoxal 5'-phosphate
-
 Homo sapiens