Cloned (Comment) | Organism |
---|---|
gene PHA, DNA sequence determination, structural and functional analyses of mutations of the PHA gene, expression of wild-type and mutant enzymes in COS-7 cells, overview | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
A447P | site-directed mutagenesis, the mutation occurs naturally in phenylketonuria patients from Korea, the mutant shows highly reduced activity compared to the wild-type | Homo sapiens |
G103S | site-directed mutagenesis, the mutation occurs naturally in phenylketonuria patients from Korea, the mutant shows highly reduced activity compared to the wild-type | Homo sapiens |
G332V | site-directed mutagenesis, the mutation occurs naturally in phenylketonuria patients from Korea, inactive mutant | Homo sapiens |
L293M | site-directed mutagenesis, the mutation occurs naturally in phenylketonuria patients from Korea, the mutant shows reduced activity and no response to tetrahydrobiopterin compared to the wild-type | Homo sapiens |
additional information | identification of naturally occuring missense mutations of the PHA gene involved in phenylketonuria, an autosomal recessive metabolic disease caused by PHA deficiency, the mutants show residual or no catalytic activity | Homo sapiens |
P69S | site-directed mutagenesis, the mutation occurs naturally in phenylketonuria patients from Korea, the mutant shows reduced activity compared to the wild-type | Homo sapiens |
R241C | site-directed mutagenesis, the mutation occurs naturally in humans altering the tetrahydrobiopterin responsiveness, the mutant shows reduced activity and dimer stability compared to the wild-type | Homo sapiens |
R243Q | site-directed mutagenesis, the common mutation occurs naturally in phenylketonuria patients from east asia, the mutant shows reduced activity compared to the wild-type, the mutation affects hydrogen binding between the amide nitrogen of R243 and the carbonyl oxygen of Asp129 | Homo sapiens |
R408Q | site-directed mutagenesis, the mutation occurs naturally in humans altering the tetrahydrobiopterin responsiveness, the mutant shows reduced activity and dimer stability compared to the wild-type | Homo sapiens |
R413P | site-directed mutagenesis, the common mutation occurs naturally in phenylketonuria patients from east asia, the mutant shows reduced activity compared to the wild-type | Homo sapiens |
R53H | site-directed mutagenesis, the mutation occurs naturally in humans altering the tetrahydrobiopterin responsiveness, the mutant shows reduced activity and dimer stability compared to the wild-type | Homo sapiens |
S391I | site-directed mutagenesis, the mutation occurs naturally in phenylketonuria patients from Korea, inactive mutant | Homo sapiens |
Metals/Ions | Comment | Organism | Structure |
---|---|---|---|
Cl- | bound by residue S391 | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
L-phenylalanine + tetrahydrobiopterin + O2 | Homo sapiens | - |
L-tyrosine + 4a-hydroxy-tetrahydrobiopterin | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Reaction | Comment | Organism | Reaction ID |
---|---|---|---|
L-phenylalanine + a 5,6,7,8-tetrahydropteridine + O2 = L-tyrosine + a 4a-hydroxy-5,6,7,8-tetrahydropteridine | residues S391 and G332 are important for activity | Homo sapiens |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
L-phenylalanine + tetrahydrobiopterin + O2 | - |
Homo sapiens | L-tyrosine + 4a-hydroxy-tetrahydrobiopterin | - |
? |
Synonyms | Comment | Organism |
---|---|---|
PAH | - |
Homo sapiens |
phenylalanine hydroxylase | - |
Homo sapiens |
Temperature Optimum [°C] | Temperature Optimum Maximum [°C] | Comment | Organism |
---|---|---|---|
37 | - |
assay at | Homo sapiens |
pH Optimum Minimum | pH Optimum Maximum | Comment | Organism |
---|---|---|---|
7.8 | - |
assay at | Homo sapiens |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
tetrahydrobiopterin | required | Homo sapiens |