Annotation inferences using phylogenetic trees
Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping
Gene Ontology annotation based on curation of intracellular localizations of expressed fusion proteins in living cells
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Combined Automated Annotation using Multiple IEA Methods
A human protein-protein interaction network: a resource for annotating the proteome.
Towards a proteome-scale map of the human protein-protein interaction network.
An empirical framework for binary interactome mapping.
Next-generation sequencing to generate interactome datasets.
Elucidating common structural features of human pathogenic variations using large-scale atomic-resolution protein networks.
A proteome-scale map of the human interactome network.
A massively parallel pipeline to clone DNA variants and examine molecular phenotypes of human disease mutations.
Widespread macromolecular interaction perturbations in human genetic disorders.
An inter-species protein-protein interaction network across vast evolutionary distance.
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
A reference map of the human binary protein interactome.
Hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase. Unusual gene dosage effect in heterozygotes.
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The study characterized PTPS deficiency as a cause of hyperphenylalaninemia with less than 10% residual enzyme activity in erythrocytes
"The deficient enzyme in these subjects is 6-pyruvoyl tetrahydropterin synthase (PTS). Erythrocyte activity of PTS in homozygotes (or compound heterozygotes) is less than 10% of normal."
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Treatment with oral tetrahydropterin restored phenylalanine hydroxylase activity and improved CNS function
"Treatment with oral tetrahydropterin restored adequate phenylalanine hydroxylase activity; it also maintained or improved CNS function."
Serine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase II.
DHNTP is dephosphorylated by PTPS to PTHP
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PTPS catalyses the second step in BH4 biosynthesis
"6-pyruvoyl tetrahydrobiopterin synthase (PTPS) (Takikawa et al. 1986) catalyses the second step in BH4 biosynthesis, the dephosphorylation of DHNTP to 6-pyruvoyl-tetrahydropterin (PTHP)."
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Requires Zn2+ and Mg2+ ions for activity
"has a requirement for Zn2+ (one Zn2+ ion bound per subunit) and Mg2+ ions for activity"
PTPS is phosphorylated by cGMP-dependant protein kinase II