Gene table of PTS : 6-pyruvoyltetrahydropterin synthase

Gene-disease associations table

Disease IDDisease nameSource of annotation with PTSOMIM linkNumber of associated genesgenes
261640HYPERPHENYLALANINEMIA, BH4-DEFICIENT, AClinVar, OMIM, HUMSAVAR link to OMIM 1PTS

Download the gene annotation in CSV format

Annotation of the gene PTS

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Metabolic pathwayshsa011002.49
Folate biosynthesishsa007908.86
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulationR-HSA-14741519.66
MetabolismR-HSA-14307282.34
eNOS activation and regulationR-HSA-2037658.81
Metabolism of nitric oxideR-HSA-2021318.81
Associated GO terms for Molecular function
GO termGO IDGO IC
cation bindingGO:00431691.4
carbon-oxygen lyase activity, acting on phosphatesGO:00168388.35
carbon-oxygen lyase activityGO:00168355.46
lyase activityGO:00168294.53
ion bindingGO:00431671.36
catalytic activityGO:00038241.05
bindingGO:00054880.18
protein bindingGO:00055150.46
6-pyruvoyltetrahydropterin synthase activityGO:00038749.74
protein dimerization activityGO:00469832.72
metal ion bindingGO:00468721.41
identical protein bindingGO:00428022.63
protein homodimerization activityGO:00428033.16