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Protein

Purine nucleoside phosphorylase

Gene

PNP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

The purine nucleoside phosphorylases catalyze the phosphorolytic breakdown of the N-glycosidic bond in the beta-(deoxy)ribonucleoside molecules, with the formation of the corresponding free purine bases and pentose-1-phosphate.1 Publication

Catalytic activityi

Purine nucleoside + phosphate = purine + alpha-D-ribose 1-phosphate.

Pathwayi: purine nucleoside salvage

This protein is involved in the pathway purine nucleoside salvage, which is part of Purine metabolism.
View all proteins of this organism that are known to be involved in the pathway purine nucleoside salvage and in Purine metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei33PhosphateBy similarity1
Binding sitei64PhosphateBy similarity1
Binding sitei116Phosphate; via amide nitrogenBy similarity1
Binding sitei201Purine nucleosideBy similarity1
Binding sitei220PhosphateBy similarity1
Binding sitei243Purine nucleosideBy similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionGlycosyltransferase, Transferase

Enzyme and pathway databases

BioCyciMetaCyc:HS02151-MONOMER
BRENDAi2.4.2.1 2681
ReactomeiR-HSA-6798695 Neutrophil degranulation
R-HSA-74217 Purine salvage
R-HSA-74259 Purine catabolism
SABIO-RKiP00491
SignaLinkiP00491
UniPathwayi
UPA00606

Names & Taxonomyi

Protein namesi
Recommended name:
Purine nucleoside phosphorylase (EC:2.4.2.1)
Short name:
PNP
Alternative name(s):
Inosine phosphorylase
Inosine-guanosine phosphorylase
Gene namesi
Name:PNP
Synonyms:NP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000198805.11
HGNCiHGNC:7892 PNP
MIMi164050 gene
neXtProtiNX_P00491

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Purine nucleoside phosphorylase deficiency (PNPD)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613179
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00224489E → K in PNPD. 1 PublicationCorresponds to variant dbSNP:rs104894453EnsemblClinVar.1
Natural variantiVAR_002245128D → G in PNPD. 1 PublicationCorresponds to variant dbSNP:rs104894450EnsemblClinVar.1
Natural variantiVAR_002246174A → P in PNPD. Corresponds to variant dbSNP:rs104894454EnsemblClinVar.1
Natural variantiVAR_010653192Y → C in PNPD. 1 PublicationCorresponds to variant dbSNP:rs104894452EnsemblClinVar.1
Natural variantiVAR_002247234R → P in PNPD. 1 PublicationCorresponds to variant dbSNP:rs104894451EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi4860
MalaCardsiPNP
MIMi613179 phenotype
OpenTargetsiENSG00000198805
Orphaneti760 Purine nucleoside phosphorylase deficiency
PharmGKBiPA31694

Chemistry databases

ChEMBLiCHEMBL4338
DrugBankiDB03609 3-Deoxyguanosine
DB01667 8-azaguanine
DB02796 9-Deazainosine
DB00242 Cladribine
DB00900 Didanosine
DB02377 Guanine
DB02857 Guanosine
DB04076 Hypoxanthine
DB02230 Immucillin-G
DB04335 Inosine
DB03881 MT-Immucillin-H
DB02568 Peldesine
DB03101 Ribose-1-Phosphate
GuidetoPHARMACOLOGYi2841

Polymorphism and mutation databases

BioMutaiPNP
DMDMi108935929

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001845361 – 289Purine nucleoside phosphorylaseAdd BLAST289

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1 Publication1
Modified residuei251PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP00491
PaxDbiP00491
PeptideAtlasiP00491
PRIDEiP00491
ProteomicsDBi51256
TopDownProteomicsiP00491

2D gel databases

OGPiP00491

PTM databases

iPTMnetiP00491
PhosphoSitePlusiP00491
SwissPalmiP00491

Expressioni

Tissue specificityi

Expressed in red blood cells; overexpressed in red blood cells (cytoplasm) of patients with hereditary non-spherocytic hemolytic anemia of unknown etiology.1 Publication

Gene expression databases

BgeeiENSG00000198805 Expressed in 197 organ(s), highest expression level in corpus epididymis
CleanExiHS_NP
ExpressionAtlasiP00491 baseline and differential
GenevisibleiP00491 HS

Organism-specific databases

HPAiHPA001625

Interactioni

Subunit structurei

Homotrimer.

Protein-protein interaction databases

BioGridi110921, 39 interactors
CORUMiP00491
DIPiDIP-50406N
IntActiP00491, 14 interactors
STRINGi9606.ENSP00000354532

Chemistry databases

BindingDBiP00491

Structurei

Secondary structure

1289
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP00491
SMRiP00491
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP00491

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni84 – 86Phosphate bindingBy similarity3

Sequence similaritiesi

Belongs to the PNP/MTAP phosphorylase family.Curated

Phylogenomic databases

eggNOGiKOG3984 Eukaryota
COG0005 LUCA
GeneTreeiENSGT00550000074740
HOVERGENiHBG002460
InParanoidiP00491
KOiK03783
OMAiVLISDHI
OrthoDBiEOG091G0GEE
PhylomeDBiP00491
TreeFamiTF300049

Family and domain databases

InterProiView protein in InterPro
IPR000845 Nucleoside_phosphorylase_d
IPR035994 Nucleoside_phosphorylase_sf
IPR011270 Pur_Nuc_Pase_Ino/Guo-sp
IPR011268 Purine_phosphorylase
IPR018099 Purine_phosphorylase-2_CS
PANTHERiPTHR11904 PTHR11904, 1 hit
PfamiView protein in Pfam
PF01048 PNP_UDP_1, 1 hit
PIRSFiPIRSF000477 PurNPase, 1 hit
SUPFAMiSSF53167 SSF53167, 1 hit
TIGRFAMsiTIGR01700 PNPH, 1 hit
TIGR01697 PNPH-PUNA-XAPA, 1 hit
PROSITEiView protein in PROSITE
PS01240 PNP_MTAP_2, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

P00491-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MENGYTYEDY KNTAEWLLSH TKHRPQVAII CGSGLGGLTD KLTQAQIFDY
60 70 80 90 100
GEIPNFPRST VPGHAGRLVF GFLNGRACVM MQGRFHMYEG YPLWKVTFPV
110 120 130 140 150
RVFHLLGVDT LVVTNAAGGL NPKFEVGDIM LIRDHINLPG FSGQNPLRGP
160 170 180 190 200
NDERFGDRFP AMSDAYDRTM RQRALSTWKQ MGEQRELQEG TYVMVAGPSF
210 220 230 240 250
ETVAECRVLQ KLGADAVGMS TVPEVIVARH CGLRVFGFSL ITNKVIMDYE
260 270 280
SLEKANHEEV LAAGKQAAQK LEQFVSILMA SIPLPDKAS
Length:289
Mass (Da):32,118
Last modified:May 30, 2006 - v2
Checksum:i91622FB1D26479D3
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V5M2G3V5M2_HUMAN
Purine nucleoside phosphorylase
PNP
221Annotation score:
G3V393G3V393_HUMAN
Purine nucleoside phosphorylase
PNP
61Annotation score:
G3V2H3G3V2H3_HUMAN
Purine nucleoside phosphorylase
PNP
93Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00224351G → S5 PublicationsCorresponds to variant dbSNP:rs1049564EnsemblClinVar.1
Natural variantiVAR_00224489E → K in PNPD. 1 PublicationCorresponds to variant dbSNP:rs104894453EnsemblClinVar.1
Natural variantiVAR_002245128D → G in PNPD. 1 PublicationCorresponds to variant dbSNP:rs104894450EnsemblClinVar.1
Natural variantiVAR_002246174A → P in PNPD. Corresponds to variant dbSNP:rs104894454EnsemblClinVar.1
Natural variantiVAR_010653192Y → C in PNPD. 1 PublicationCorresponds to variant dbSNP:rs104894452EnsemblClinVar.1
Natural variantiVAR_002247234R → P in PNPD. 1 PublicationCorresponds to variant dbSNP:rs104894451EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X00737 mRNA Translation: CAA25320.1
M13953
, J02672, M13951, M13952 Genomic DNA Translation: AAA36460.1
AY817667 Genomic DNA Translation: AAV68044.1
AK313490 mRNA Translation: BAG36272.1
CR407607 mRNA Translation: CAG28535.1
CH471078 Genomic DNA Translation: EAW66458.1
CH471078 Genomic DNA Translation: EAW66459.1
BC104206 mRNA Translation: AAI04207.1
BC104207 mRNA Translation: AAI04208.1
BC106074 mRNA Translation: AAI06075.1
CCDSiCCDS9552.1
PIRiA00578 PHHUPN
RefSeqiNP_000261.2, NM_000270.3
UniGeneiHs.75514

Genome annotation databases

EnsembliENST00000361505; ENSP00000354532; ENSG00000198805
GeneIDi4860
KEGGihsa:4860

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

NPbase

NP mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X00737 mRNA Translation: CAA25320.1
M13953
, J02672, M13951, M13952 Genomic DNA Translation: AAA36460.1
AY817667 Genomic DNA Translation: AAV68044.1
AK313490 mRNA Translation: BAG36272.1
CR407607 mRNA Translation: CAG28535.1
CH471078 Genomic DNA Translation: EAW66458.1
CH471078 Genomic DNA Translation: EAW66459.1
BC104206 mRNA Translation: AAI04207.1
BC104207 mRNA Translation: AAI04208.1
BC106074 mRNA Translation: AAI06075.1
CCDSiCCDS9552.1
PIRiA00578 PHHUPN
RefSeqiNP_000261.2, NM_000270.3
UniGeneiHs.75514

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1M73X-ray2.30E2-289[»]
1PF7X-ray2.60E1-289[»]
1PWYX-ray2.80E2-289[»]
1RCTX-ray2.80E2-289[»]
1RFGX-ray2.90E2-289[»]
1RR6X-ray2.50A1-289[»]
1RSZX-ray2.20A1-289[»]
1RT9X-ray2.30A1-289[»]
1ULAX-ray2.75A1-289[»]
1ULBX-ray2.75A1-289[»]
1V2HX-ray2.70E2-289[»]
1V3QX-ray2.80E2-289[»]
1V41X-ray2.85E2-289[»]
1V45X-ray2.86E2-289[»]
1YRYX-ray2.80E1-289[»]
2A0WX-ray2.28A1-289[»]
2A0XX-ray2.28A1-289[»]
2A0YX-ray2.28A1-289[»]
2OC4X-ray2.59A1-289[»]
2OC9X-ray2.59A1-289[»]
2ON6X-ray2.50A1-289[»]
2Q7OX-ray2.90E1-289[»]
3BGSX-ray2.10A1-289[»]
3D1VX-ray2.70A1-289[»]
3GB9X-ray2.30A/B/C1-289[»]
3GGSX-ray2.52A/B/C1-289[»]
3INYX-ray2.75A1-289[»]
3K8OX-ray2.40E/Q/S/T/U/Y1-289[»]
3K8QX-ray2.50A1-289[»]
3PHBX-ray2.30E/Q/S/T/U/Y1-289[»]
4EARX-ray1.70A/B/C1-289[»]
4EB8X-ray2.30A/B/C1-289[»]
4ECEX-ray2.60A/B/C/D/E/F1-289[»]
4GKAX-ray2.20A/B/C/D/E/F1-289[»]
5ETJX-ray2.30A/B/C/D/E/F1-289[»]
5UGFX-ray2.20A/B/C/D/E/F1-289[»]
ProteinModelPortaliP00491
SMRiP00491
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110921, 39 interactors
CORUMiP00491
DIPiDIP-50406N
IntActiP00491, 14 interactors
STRINGi9606.ENSP00000354532

Chemistry databases

BindingDBiP00491
ChEMBLiCHEMBL4338
DrugBankiDB03609 3-Deoxyguanosine
DB01667 8-azaguanine
DB02796 9-Deazainosine
DB00242 Cladribine
DB00900 Didanosine
DB02377 Guanine
DB02857 Guanosine
DB04076 Hypoxanthine
DB02230 Immucillin-G
DB04335 Inosine
DB03881 MT-Immucillin-H
DB02568 Peldesine
DB03101 Ribose-1-Phosphate
GuidetoPHARMACOLOGYi2841

PTM databases

iPTMnetiP00491
PhosphoSitePlusiP00491
SwissPalmiP00491

Polymorphism and mutation databases

BioMutaiPNP
DMDMi108935929

2D gel databases

OGPiP00491

Proteomic databases

EPDiP00491
PaxDbiP00491
PeptideAtlasiP00491
PRIDEiP00491
ProteomicsDBi51256
TopDownProteomicsiP00491

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000361505; ENSP00000354532; ENSG00000198805
GeneIDi4860
KEGGihsa:4860

Organism-specific databases

CTDi4860
DisGeNETi4860
EuPathDBiHostDB:ENSG00000198805.11
GeneCardsiPNP
HGNCiHGNC:7892 PNP
HPAiHPA001625
MalaCardsiPNP
MIMi164050 gene
613179 phenotype
neXtProtiNX_P00491
OpenTargetsiENSG00000198805
Orphaneti760 Purine nucleoside phosphorylase deficiency
PharmGKBiPA31694
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3984 Eukaryota
COG0005 LUCA
GeneTreeiENSGT00550000074740
HOVERGENiHBG002460
InParanoidiP00491
KOiK03783
OMAiVLISDHI
OrthoDBiEOG091G0GEE
PhylomeDBiP00491
TreeFamiTF300049

Enzyme and pathway databases

UniPathwayi
UPA00606

BioCyciMetaCyc:HS02151-MONOMER
BRENDAi2.4.2.1 2681
ReactomeiR-HSA-6798695 Neutrophil degranulation
R-HSA-74217 Purine salvage
R-HSA-74259 Purine catabolism
SABIO-RKiP00491
SignaLinkiP00491

Miscellaneous databases

ChiTaRSiPNP human
EvolutionaryTraceiP00491
GeneWikiiPurine_nucleoside_phosphorylase
GenomeRNAii4860
PROiPR:P00491
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000198805 Expressed in 197 organ(s), highest expression level in corpus epididymis
CleanExiHS_NP
ExpressionAtlasiP00491 baseline and differential
GenevisibleiP00491 HS

Family and domain databases

InterProiView protein in InterPro
IPR000845 Nucleoside_phosphorylase_d
IPR035994 Nucleoside_phosphorylase_sf
IPR011270 Pur_Nuc_Pase_Ino/Guo-sp
IPR011268 Purine_phosphorylase
IPR018099 Purine_phosphorylase-2_CS
PANTHERiPTHR11904 PTHR11904, 1 hit
PfamiView protein in Pfam
PF01048 PNP_UDP_1, 1 hit
PIRSFiPIRSF000477 PurNPase, 1 hit
SUPFAMiSSF53167 SSF53167, 1 hit
TIGRFAMsiTIGR01700 PNPH, 1 hit
TIGR01697 PNPH-PUNA-XAPA, 1 hit
PROSITEiView protein in PROSITE
PS01240 PNP_MTAP_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPNPH_HUMAN
AccessioniPrimary (citable) accession number: P00491
Secondary accession number(s): B2R8S5
, D3DS00, Q15160, Q5PZ03
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: May 30, 2006
Last modified: September 12, 2018
This is version 201 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
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