Cloned (Comment) | Organism |
---|---|
mutant enzymes are expressed in Escherichia coli | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
I174T | the mutation results in the classical phenylketonuria phenotype expressing 0.2-1.8% of the wild type PAH activity when using L-phenylalanine as substrate, and has less 0.1% of the wild type PAH activity when S-carboxymethyl-L-cysteine is used as the substrate | Homo sapiens |
I65T | the S-oxidation of S-carboxymethyl-L-cysteine is dramatically reduced in the 5,6,7,8-tetrahydro-L-biopterin responsive mutant I65T possessing 1.2-2.0% of the wild type PAH activity when S-carboxymethyl-L-cysteine is used as substrate and expressing 23-76% of the wild type PAH activity when L-phenylalanine is used as the substrate | Homo sapiens |
R158Q | the mutation results in the classical phenylketonuria phenotype expressing 0.2-1.8% of the wild type PAH activity when using L-phenylalanine as substrate, and has less 0.1% of the wild type PAH activity when S-carboxymethyl-L-cysteine is used as the substrate | Homo sapiens |
R261Q | the S-oxidation of S-carboxymethyl-L-cysteine is dramatically reduced in the 5,6,7,8-tetrahydro-L-biopterin responsive mutant I65T possessing 1.2-2.0% of the wild type PAH activity when S-carboxymethyl-L-cysteine is used as substrate and expressing 23-76% of the wild type PAH activity when L-phenylalanine is used as the substrate | Homo sapiens |
R408W | the mutation results in the classical phenylketonuria phenotype expressing 0.2-1.8% of the wild type PAH activity when using L-phenylalanine as substrate, and has less 0.1% of the wild type PAH activity when S-carboxymethyl-L-cysteine is used as the substrate | Homo sapiens |
R68S | the S-oxidation of S-carboxymethyl-L-cysteine is dramatically reduced in the 5,6,7,8-tetrahydro-L-biopterin responsive mutant I65T possessing 1.2-2.0% of the wild type PAH activity when S-carboxymethyl-L-cysteine is used as substrate and expressing 23-76% of the wild type PAH activity when L-phenylalanine is used as the substrate | Homo sapiens |
V388M | the S-oxidation of S-carboxymethyl-L-cysteine is dramatically reduced in the 5,6,7,8-tetrahydro-L-biopterin responsive mutant I65T possessing 1.2-2.0% of the wild type PAH activity when S-carboxymethyl-L-cysteine is used as substrate and expressing 23-76% of the wild type PAH activity when L-phenylalanine is used as the substrate | Homo sapiens |
Y414C | the S-oxidation of S-carboxymethyl-L-cysteine is dramatically reduced in the 5,6,7,8-tetrahydro-L-biopterin responsive mutant I65T possessing 1.2-2.0% of the wild type PAH activity when S-carboxymethyl-L-cysteine is used as substrate and expressing 23-76% of the wild type PAH activity when L-phenylalanine is used as the substrate | Homo sapiens |
KM Value [mM] | KM Value Maximum [mM] | Substrate | Comment | Organism | Structure |
---|---|---|---|---|---|
0.022 | - |
L-phenylalanine | mutant enzyme Y414C, in 50 mM potassium phosphate buffer (pH 6.8), at 37°C | Homo sapiens | |
0.024 | - |
L-phenylalanine | mutant enzyme V388M, in 50 mM potassium phosphate buffer (pH 6.8), at 37°C | Homo sapiens | |
0.026 | - |
L-phenylalanine | wild type enzyme, in 50 mM potassium phosphate buffer (pH 6.8), at 37°C | Homo sapiens | |
0.027 | - |
L-phenylalanine | mutant enzyme R261Q, in 50 mM potassium phosphate buffer (pH 6.8), at 37°C | Homo sapiens | |
0.032 | - |
L-phenylalanine | mutant enzyme R68S, in 50 mM potassium phosphate buffer (pH 6.8), at 37°C | Homo sapiens | |
0.04 | - |
L-phenylalanine | mutant enzyme I65T, in 50 mM potassium phosphate buffer (pH 6.8), at 37°C | Homo sapiens | |
0.0728 | - |
S-carboxymethyl-L-cysteine | wild type enzyme, in 50 mM potassium phosphate buffer (pH 6.8), at 37°C | Homo sapiens | |
0.14 | - |
S-carboxymethyl-L-cysteine | mutant enzyme R68S, in 50 mM potassium phosphate buffer (pH 6.8), at 37°C | Homo sapiens | |
0.143 | - |
S-carboxymethyl-L-cysteine | mutant enzyme Y414C, in 50 mM potassium phosphate buffer (pH 6.8), at 37°C | Homo sapiens | |
0.146 | - |
S-carboxymethyl-L-cysteine | mutant enzyme V388M, in 50 mM potassium phosphate buffer (pH 6.8), at 37°C | Homo sapiens | |
0.15 | - |
S-carboxymethyl-L-cysteine | mutant enzyme I65T, in 50 mM potassium phosphate buffer (pH 6.8), at 37°C | Homo sapiens | |
0.155 | - |
S-carboxymethyl-L-cysteine | mutant enzyme R261Q, in 50 mM potassium phosphate buffer (pH 6.8), at 37°C | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P00439 | - |
- |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
L-phenylalanine + 5,6,7,8-tetrahydro-L-biopterin + O2 | - |
Homo sapiens | L-tyrosine + 4a-hydroxytetrahydrobiopterin | - |
? | |
additional information | does not use thiodiglycolic acid as substrate | Homo sapiens | ? | - |
? | |
N-acetyl-(S)-carboxymethyl-L-cysteine + 5,6,7,8-tetrahydro-L-biopterin + O2 | - |
Homo sapiens | N-acetyl-(S)-carboxymethyl-L-cysteine S-oxide + ? | - |
? | |
N-acetyl-(S)-methyl-L-cysteine + 5,6,7,8-tetrahydro-L-biopterin + O2 | - |
Homo sapiens | N-acetyl-(S)-methyl-L-cysteine S-oxide + ? | - |
? | |
S-carboxymethyl-L-cysteine + 5,6,7,8-tetrahydro-L-biopterin + O2 | - |
Homo sapiens | S-carboxymethyl-L-cysteine S-oxide + dihydrobiopterin + H2O | - |
? |
Synonyms | Comment | Organism |
---|---|---|
PAH | - |
Homo sapiens |
phenylalanine hydroxylase | - |
Homo sapiens |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
5,6,7,8-tetrahydro-L-biopterin | - |
Homo sapiens |