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Literature summary 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

Activating Compound

EC Number Activating Compound Comment 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

Protein Variants

EC Number Protein Variants Comment 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 Comment 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 Comment Organism GeneOntology No. Textmining
4.2.1.22 cytosol
-
 Homo sapiens 5829
-

Natural Substrates/ Products (Substrates)

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

Organism

EC Number Organism UniProt Comment 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] Comment 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 Comment Substrates Organism Products Comment (Products) Rev. Reac.
4.2.1.22 L-serine + L-homocysteine
-
 Homo sapiens L-cystathionine + H2O
-
 ?

Subunits

EC Number Subunits Comment Organism
4.2.1.22 homotetramer
-
 Homo sapiens

Synonyms

EC Number Synonyms Comment Organism
4.2.1.22 CBS
-
 Homo sapiens

Temperature Optimum [°C]

EC Number Temperature Optimum [°C] Temperature Optimum Maximum [°C] Comment Organism
4.2.1.22 37
-
 assay at Homo sapiens

Cofactor

EC Number Cofactor Comment 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