Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary 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)

EC Number Cloned (Comment) Organism
1.14.16.1 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

EC Number Protein Variants Comment Organism
1.14.16.1 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
1.14.16.1 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
1.14.16.1 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
1.14.16.1 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
1.14.16.1 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]

EC Number Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
1.14.16.1 52000
-
 x * 52000, recombinant wild-type and mutant enzymes, SDS-PAGE Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
1.14.16.1 L-phenylalanine + tetrahydrobiopterin + O2 Homo sapiens
-
 L-tyrosine + 4a-hydroxy-tetrahydrobiopterin
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
1.14.16.1 Homo sapiens P00439
-
-

Purification (Commentary)

EC Number Purification (Comment) Organism
1.14.16.1 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)

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

Subunits

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

Synonyms

EC Number Synonyms Comment Organism
1.14.16.1 PAH
-
 Homo sapiens
1.14.16.1 phenylalanine hydroxylase
-
 Homo sapiens

Cofactor

EC Number Cofactor Comment Organism Structure
1.14.16.1 6-methyl-tetrahydrobiopterin
-
 Homo sapiens
1.14.16.1 tetrahydrobiopterin
-
 Homo sapiens