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Literature summary for 1.14.16.1 extracted from

  • Leandro, J.; Nascimento, C.; Tavares de Almeida, I.; Leandro, P.
    Co-expression of different subunits of human phenylalanine hydroxylase: Evidence of negative interallelic complementation (2006), Biochim. Biophys. Acta, 1762, 544-550.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
DNA and amino acid sequence analysis of wild-type and mutant enzymes, expression of His6-tagged, catalytically active, heterozygous enzymes with one mutated allele Homo sapiens

Protein Variants

Protein Variants Comment Organism
I65T naturally occuring mutation involved in hyperphenylalaninemia of heterozygous patients, sequence analysis, the heterologous mutant shows reduced activity compared to the wild-type enzyme Homo sapiens
additional information identification of mutations, that alter the interaction of subunits, which could be a source of phenotypic variation in genetic diseases involving multimeric proteins, e.g. in hypephenylalaninemia, overview Homo sapiens
R261Q naturally occuring mutation involved in hyperphenylalaninemia of heterozygous patients, sequence analysis, the heterologous mutant shows reduced activity compared to the wild-type enzyme Homo sapiens
R270K naturally occuring mutation involved in hyperphenylalaninemia of heterozygous patients, sequence analysis, the heterologous mutant shows reduced activity compared to the wild-type enzyme Homo sapiens
V388M naturally occuring mutation involved in hyperphenylalaninemia of heterozygous patients, sequence analysis, the heterologous mutant shows reduced activity compared to the wild-type enzyme Homo sapiens

Molecular Weight [Da]

Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
52000
-
x * 52000, recombinant wild-type and mutant enzymes, SDS-PAGE 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 P00439
-
-

Purification (Commentary)

Purification (Comment) Organism
recombinant His6-tagged, catalytically active, heterozygous enzymes with one mutated allele, from bacteria by nickel affinity chromatography, excision of the His-tag Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
L-phenylalanine + 6-methyl-tetrahydrobiopterin + O2
-
Homo sapiens L-tyrosine + 6-methyl-4a-hydroxy-tetrahydrobiopterin
-
?
L-phenylalanine + tetrahydrobiopterin + O2
-
Homo sapiens L-tyrosine + 4a-hydroxy-tetrahydrobiopterin
-
?

Subunits

Subunits Comment Organism
? x * 52000, recombinant wild-type and mutant enzymes, SDS-PAGE Homo sapiens

Synonyms

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

Cofactor

Cofactor Comment Organism Structure
6-methyl-tetrahydrobiopterin
-
Homo sapiens
tetrahydrobiopterin
-
Homo sapiens