Literature summary for 1.14.16.1 extracted from

Leandro, J.; Leandro, P.; Flatmark, T.
Heterotetrameric forms of human phenylalanine hydroxylase: co-expression of wild-type and mutant forms in a bicistronic system (2011), Biochim. Biophys. Acta, 1812, 602-612.

Search for more literature for 1.14.16.1

Application

Application	Comment	Organism
molecular biology	bicistronic expression system is developed which allows the isolation of hybrid forms that exhibit negative interallelic complementation, and may represent a model system for studying the molecular pathogenic mechanisms of PAH gene mutations in compound heterozygous phenylketonuric patients, providing the rationale to understand the observed inconsistencies both in genotype/phenotype correlations and in the response to (6R)-L-erythro-5,6,7,8-tetrahydrobiopterin supplementation	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
DELTA1-102	mutant lacking the first 102 residues corresponding to the N-terminal regulatory domain. 96% of the truncated mutant exist as a tetramer. On coexpression of wild-type-hPAH and the N-terminally truncated form DELTA1-102 (~95% tetramer), heterotetramers, as a result of an assembly of two different homodimers, are isolated. The recovered (wild-type)/(DELTA1-102 mutant)-hPAH heterotetramers reveal a catalytic activity deviating significantly from that calculated by averaging the respective recombinant homotetrameric forms. The heterotetramer assembly also results in conformational changes in the WT-hPAH protomer, as detected by trypsin limited proteolysis	Homo sapiens
DELTA1-102/DELTAC24	mutant lacking the first 102 residues corresponding to the N-terminal regulatory domain and the last 24 residues at the C-terminal end corresponding to the tetramerisation motif. 81% of the truncated mutant exist as a dimer and 17% as an aggregated form. On co-expression of wild-type-hPAH (50% tetramer, 10% dimer) and the N- and C-terminally truncated form DELTA1-102/DELTAC24 (80% dimer) no heterodimers is recovered	Homo sapiens

Molecular Weight [Da]

Molecular Weight [Da]	Molecular Weight Maximum [Da]	Comment	Organism
95600	-	calculated from amino acid sequence	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
L-phenylalanine + (6R)-L-erythro-5,6,7,8-tetrahydrobiopterin + O2	-	Homo sapiens	L-tyrosine + 4a-hydroxy-(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin	-	?

Subunits

Subunits	Comment	Organism
dimer	gel filtration, relative amount of wild-type: 8%	Homo sapiens
More	40% exist as aggregated forms	Homo sapiens
tetramer	gel filtration, relative amount of wild-type: 52%	Homo sapiens

Synonyms

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

Temperature Optimum [°C]

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

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Release 2023.1 (January 2023)