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MGP002534

UniProt Annotations

Entry Information
Gene Name6-pyruvoyltetrahydropterin synthase
Protein EntryPTPS_HUMAN
UniProt IDQ03393
SpeciesHuman
Comments
Comment typeDescription
Biophysicochemical PropertiesKinetic parameters: KM=8.1 uM for 7,8-dihydroneopterin triphosphate {ECO:0000269|PubMed:10531334}; Vmax=120 nmol/min/mg enzyme {ECO:0000269|PubMed:10531334};
Catalytic Activity7,8-dihydroneopterin 3'-triphosphate = 6- pyruvoyl-5,6,7,8-tetrahydropterin + triphosphate. {ECO:0000269|PubMed:1282802}.
CofactorName=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence={ECO:0000250}; Note=Binds 1 zinc ion per subunit. {ECO:0000250};
DiseaseHyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640]: An autosomal recessive disorder characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits. Neurological symptoms are unresponsive to the classic phenylalanine-low diet. {ECO:0000269|PubMed:10220141, ECO:0000269|PubMed:10585341, ECO:0000269|PubMed:10874306, ECO:0000269|PubMed:11388593, ECO:0000269|PubMed:7698774, ECO:0000269|PubMed:8178819, ECO:0000269|PubMed:8707300, ECO:0000269|PubMed:9159737, ECO:0000269|PubMed:9222757, ECO:0000269|PubMed:9450907}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionInvolved in the biosynthesis of tetrahydrobiopterin, an essential cofactor of aromatic amino acid hydroxylases. Catalyzes the transformation of 7,8-dihydroneopterin triphosphate into 6- pyruvoyl tetrahydropterin. {ECO:0000269|PubMed:1282802}.
InteractionSelf; NbExp=4; IntAct=EBI-712344, EBI-712344;
MiscellaneousThe active site is at the interface between 2 subunits. The proton acceptor Cys is on one subunit, and the charge relay system is on the other subunit.
PathwayCofactor biosynthesis; tetrahydrobiopterin biosynthesis; tetrahydrobiopterin from 7,8-dihydroneopterin triphosphate: step 1/3.
PtmPhosphorylation of Ser-19 is required for maximal enzyme activity. {ECO:0000269|PubMed:10531334, ECO:0000269|PubMed:18669648, ECO:0000269|PubMed:20068231}.
SimilarityBelongs to the PTPS family. {ECO:0000305}.
SubunitHomohexamer formed of two homotrimers in a head to head fashion.
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