Gene table of PNP : purine nucleoside phosphorylase

Gene-disease associations table

Disease IDDisease nameSource of annotation with PNPOMIM linkNumber of associated genesgenes
613179PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCYClinVar, OMIM, HUMSAVAR link to OMIM 1PNP

Download the gene annotation in CSV format

Annotation of the gene PNP

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
Nicotinate and nicotinamide metabolismhsa007608.01
Metabolic pathwayshsa011002.49
Pyrimidine metabolismhsa002406.01
Purine metabolismhsa002305.28
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
MetabolismR-HSA-14307282.34
Metabolism of nucleotidesR-HSA-158696.7
Purine salvageR-HSA-742179.28
Purine catabolismR-HSA-742599.66
Purine metabolismR-HSA-738477.94
Associated GO terms for Molecular function
GO termGO IDGO IC
anion bindingGO:00431684.17
carbohydrate derivative bindingGO:00973672.03
organic cyclic compound bindingGO:00971591.05
transferase activity, transferring pentosyl groupsGO:00167635.7
ion bindingGO:00431671.36
small molecule bindingGO:00360941.89
catalytic activityGO:00038241.05
transferase activityGO:00167401.95
bindingGO:00054880.18
transferase activity, transferring glycosyl groupsGO:00167574.08
nucleobase bindingGO:00020548.35
purine-nucleoside phosphorylase activityGO:00047318.64
purine nucleobase bindingGO:00020608.64
drug bindingGO:00081445.03
heterocyclic compound bindingGO:19013631.06
phosphate ion bindingGO:00423017.25
nucleoside bindingGO:00018822.21