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Literature summary for 1.14.16.1 extracted from

  • Kim, S.W.; Jung, J.; Oh, H.J.; Kim, J.; Lee, K.S.; Lee, D.H.; Park, C.; Kimm, K.; Koo, S.K.; Jung, S.C.
    Structural and functional analyses of mutations of the human phenylalanine hydroxylase gene (2006), Clin. Chim. Acta, 365, 279-287.
    View publication on PubMed

Cloned(Commentary)

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

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

Metals/Ions Comment Organism Structure
Cl- bound by residue S391 Homo sapiens

Natural Substrates/ Products (Substrates)

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

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Reaction

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 and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
L-phenylalanine + tetrahydrobiopterin + O2
-
Homo sapiens L-tyrosine + 4a-hydroxy-tetrahydrobiopterin
-
?

Synonyms

Synonyms Comment Organism
PAH
-
Homo sapiens
phenylalanine hydroxylase
-
Homo sapiens

Temperature Optimum [°C]

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

pH Optimum

pH Optimum Minimum pH Optimum Maximum Comment Organism
7.8
-
assay at Homo sapiens

Cofactor

Cofactor Comment Organism Structure
tetrahydrobiopterin required Homo sapiens