Entity Details

Primary name PNPH_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP00491
EntryNamePNPH_HUMAN
FullNamePurine nucleoside phosphorylase
TaxID9606
Evidenceevidence at protein level
Length289
SequenceStatuscomplete
DateCreated1986-07-21
DateModified2021-06-02

Ontological Relatives

GenesPNP

GO terms

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GOName
GO:0001882 nucleoside binding
GO:0002060 purine nucleobase binding
GO:0004731 purine-nucleoside phosphorylase activity
GO:0005576 extracellular region
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0006139 nucleobase-containing compound metabolic process
GO:0006148 inosine catabolic process
GO:0006166 purine ribonucleoside salvage
GO:0006195 purine nucleotide catabolic process
GO:0006204 IMP catabolic process
GO:0006738 nicotinamide riboside catabolic process
GO:0006955 immune response
GO:0009165 nucleotide biosynthetic process
GO:0032743 positive regulation of interleukin-2 production
GO:0034418 urate biosynthetic process
GO:0034774 secretory granule lumen
GO:0042102 positive regulation of T cell proliferation
GO:0042301 phosphate ion binding
GO:0042493 response to drug
GO:0042802 identical protein binding
GO:0043101 purine-containing compound salvage
GO:0043312 neutrophil degranulation
GO:0046059 dAMP catabolic process
GO:0046638 positive regulation of alpha-beta T cell differentiation
GO:0047975 guanosine phosphorylase activity
GO:0070062 extracellular exosome
GO:1904813 ficolin-1-rich granule lumen

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR000845 Nucleoside phosphorylase domainDomainDomain
IPR011268 Purine nucleoside phosphorylaseFamilyFamily
IPR011270 Purine nucleoside phosphorylase I, inosine/guanosine-specificFamilyFamily
IPR018099 Purine phosphorylase, family 2, conserved siteSiteConserved site
IPR035994 Nucleoside phosphorylase superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
613179 OMIMPurine nucleoside phosphorylase deficiency (PNPD)A disorder that interrupts both the catabolism of inosine into hypoxanthine and guanosine into guanine, and leads to the accumulation of guanosine, inosine, and their deoxified by-products. The main clinical presentation is recurrent infections due to severe T-cell immunodeficiency. Some patients also have neurologic impairment. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00242 CladribineDrugbanksmall molecule
DB00900 DidanosineDrugbanksmall molecule
DB01667 8-azaguanineDrugbanksmall molecule
DB02222 2,6-Diamino-(S)-9-[2-(Phosphonomethoxy)Propyl]PurineDrugbanksmall molecule
DB02230 Immucillin-GDrugbanksmall molecule
DB02377 GuanineDrugbanksmall molecule
DB02391 2-Amino-7-[2-(2-Hydroxy-1-Hydroxymethyl-Ethylamino)-Ethyl]-1,7-Dihydro-Purin-6-OneDrugbanksmall molecule
DB02568 PeldesineDrugbanksmall molecule
DB02796 9-deazainosineDrugbanksmall molecule
DB02857 GuanosineDrugbanksmall molecule
DB03101 Ribose-1-PhosphateDrugbanksmall molecule
DB03551 (3R,4R)-3-Hydroxy-4-(hydroxymethyl)-1-[(4-oxo-4,4a,5,7a-tetrahydro-3H-pyrrolo[3,2-d]pyrimidin-7-yl)methyl]pyrrolidiniumDrugbanksmall molecule
DB03609 3'-deoxyguanosineDrugbanksmall molecule
DB03881 (2S,3R,4S,5S)-3,4-Dihydroxy-2-[(methylsulfanyl)methyl]-5-(4-oxo-4,5-dihydro-1H-pyrrolo[3,2-d]pyrimidin-7-yl)pyrrolidiniumDrugbanksmall molecule
DB04076 HypoxanthineDrugbanksmall molecule
DB04260 9-(5,5-Difluoro-5-Phosphonopentyl)GuanineDrugbanksmall molecule
DB04335 InosineDrugbanksmall molecule
DB04753 9-DEAZAINOSINE-2',3'-O-ETHYLIDENEPHOSPHONATEDrugbanksmall molecule
DB04754 GUANOSINE-2',3'-O-ETHYLIDENEPHOSPHONATEDrugbanksmall molecule
DB04757 GUANOSINE-2',3'-O-METHYLIDENEPHOSPHONATEDrugbanksmall molecule
DB06185 ForodesineDrugbanksmall molecule

Interactions

30 interactions

InteractorPartnerSourcesPublicationsLink
PNPH_HUMANAPLP1_HUMANBioGRID, HPRD, IntAct16169070 details
PNPH_HUMANCC90B_HUMANBioGRID, HPRD, IntAct16169070 details
PNPH_HUMANP53_HUMANBioGRID, HPRD, IntAct16169070 details
PNPH_HUMANZHX1_HUMANBioGRID, HPRD, IntAct16169070 details
PNPH_HUMANRBM48_HUMANBioGRID, HPRD, IntAct16169070 details
PNPH_HUMANCAPON_HUMANBioGRID, IntAct25814554 details
PNPH_HUMANPNPH_HUMANBioGRID, DIP, IntAct20212140 25416956 25502805 31515488 32296183 details
PNPH_HUMANKCC2A_HUMANIntAct32814053 details
PNPH_HUMANDC1I1_HUMANIntAct32814053 details
PNPH_HUMANFYN_HUMANIntAct32814053 details
PNPH_HUMANGFAP_HUMANIntAct32814053 details
PNPH_HUMANKAPCA_HUMANIntAct32814053 details
PNPH_HUMANRAC1_HUMANIntAct32814053 details
PNPH_HUMANSORL_HUMANIntAct32814053 details
PNPH_HUMANTGIF1_HUMANIntAct32814053 details
PNPH_HUMANKAT5_HUMANIntAct32814053 details
PNPH_HUMANPINK1_HUMANIntAct32814053 details
PNPH_HUMANA4_HUMANIntAct32814053 details
PNPH_HUMANLRIF1_HUMANBioGRID, HPRD16169070 details
PNPH_HUMANUCHL5_HUMANBioGRID21800051 details
PNPH_HUMANRIF1_HUMANIntAct16169070 details
PNPH_HUMANCRCM_HUMANIntAct17353931 details
PNPH_HUMANHLAB_HUMANIntAct17353931 details
PNPH_HUMANEPB41_HUMANIntAct17353931 details
PNPH_HUMANIKKE_HUMANIntAct17353931 details
PNPH_HUMANABCE1_HUMANBioGRID25659154 details
PNPH_HUMANDERL1_HUMANBioGRID28137758 details
PNPH_HUMANTFAM_HUMANHPRD12068295 details
PNPH_HUMANNCALD_HUMANHPRD11964161 details
PNPH_HUMANTFB2M_HUMANHPRD12068295 details