Property Summary

NCBI Gene PubMed Count 61
PubMed Score 476.31
PubTator Score 350.28

Knowledge Summary


No data available


  Differential Expression (17)

Disease log2 FC p
chronic lymphocytic leukemia -1.154 2.6e-04
psoriasis 2.100 1.3e-161
cutaneous lupus erythematosus 1.100 4.2e-03
osteosarcoma -2.258 1.5e-04
Atopic dermatitis 1.200 1.2e-04
tuberculosis and treatment for 6 months -2.100 7.7e-06
primary pancreatic ductal adenocarcinoma 1.954 3.7e-03
pancreatic cancer 1.700 5.5e-03
interstitial cystitis 1.300 2.8e-04
group 3 medulloblastoma -1.100 5.3e-03
Breast cancer 1.900 2.0e-06
lung carcinoma -1.100 1.7e-07
breast carcinoma 1.100 2.6e-13
ductal carcinoma in situ 1.200 1.4e-03
invasive ductal carcinoma 1.500 3.7e-04
ulcerative colitis 1.100 4.5e-04
ovarian cancer 1.900 6.3e-04

Protein-protein Interaction (1)

Gene RIF (30)

26985580 Data (including data from empirical valence bond/molecular dynamic simulations) suggest that PNP substrate specificity for inosine and guanosine is a direct result of electrostatic preorganization energy along the reaction coordinate.
26305965 Data show that [15N, 2H]His8-purine nucleoside phosphorylase (PNP) had reduced catalytic site chemistry larger than proportional to the enzymatic mass difference.
25625196 the binding mechanism of a transition state analogue (DADMe-immucillin-H) to the purine nucleoside phosphorylase (PNP) enzyme, is reported.
25338677 Study of genetic heterogeneity in systemic lupus erythematosus, the top associations in European ancestry were protein kinase, cyclic GMP-dependent, type I (PRKG1) rs7897633 (P(Meta) = 2.75 x 10(-8)) and purine nucleoside phosphorylase (PNP) rs1049564 (P(Meta) = 1.24 x 10(-7)).
24792412 insufficient data to evaluated impact of genetic polymorphisms on disease susceptibility
24107682 Human small intestine is a key site for ribavirin phosphorolysis and that PNP is primarily involved in the metabolism.
22578971 Complete lack of PNP triggers accumulation of deoxyguanosine, thereby disrupting B-cell development, the consequence of which is more profound with time, as was found in the older sister.
22132981 Biochemical and genetic data on a cohort of seven patients from six families identified as PNPase deficient, is reported.
21448452 This study for the first time describes elevated levels of alpha synuclein in pancreatic adenocarcinoma as well as highlights the potential of evaluating NP protein expression.
21348499 investigation of catalytic mechanisms involved in catalysis by PNP: transition states in arsenolysis and phosphorolysis
20532380 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20108972 PNP operating at maximum catalytic potential permits more rapid peptide amide deuterium exchange and greater conformational flexibility of water-peptide bond exchange rate than in either of the complexes with transition state analogues.
19932753 Results show that some regions, responsible for entrance and exit of substrate, present a conformational variability, which is dissected by dynamics simulation analysis.
19425594 Altered enthalpy-entropy compensation in picomolar transition state analogues of human purine nucleoside phosphorylase
19191546 Results describe a tryptophan-free mutant of purine nucleoside phosphorylase and its dynamic activity.
19172318 Comparative analysis of the model of BfPNP and the structure of HsPNP allowed identification of structural features responsible for differences in the computationally determined ligand affinities
18946041 Protein dynamics on the femtosecond to picosecond timescale are linked to enzymatic function.
18790691 Structural studies on NP are reported with a view towards a new specific scoring function.
18281957 New interactions caused by the mutations increase the catalytic efficiency of the enzyme for formation of a late transition state with increased participation of the phosphate nucleophile.
18281956 Altered thermodynamics from remote mutations altering human toward bovine purine nucleoside phosphorylase.
17639373 Role of ionization of the phosphate cosubstrate on phosphorolysis by purine nucleoside phosphorylase
17221831 Observational study of gene-disease association. (HuGE Navigator)
17221831 findings suggest that the G51S PNP polymorphism is associated with a faster rate of cognitive decline in Alzheimer's disease patients, highlighting the important role of purine metabolism in the progression of this neurodegenerative disorder
15582582 crystal structure of human PNP in complex with hypoxanthine, refined to 2.6A resoluti
15571269 several recurring mutations were found in PNP in patients with purine nucleoside phosphorylase deficiency by DNA sequence analysis
14706628 crystal structures in complex with inosine and 2',3'-dideoxyinosine, refined to 2.8A resolution using synchrotron radiation. The structures provide explanation for ligand binding, refine the purine-binding site and can be used for future inhibitor design.
13679062 investigation of the quaternary structure of recombinant human purine nucleoside phosphorylase
12928150 These data provide a framework in which to conduct genetic association studies of these two genes in relevant populations, thereby allowing hNP and hGSTO1-1 to be evaluated as potential susceptibility genes in human arsenicism.
12914785 Crystal structure of human purine nucleoside phosphorylase.
12180982 The optimum pH for PNP from human erythrocytes with xanthosine and xanthine is in the range 5-6, whereas those with guanosine, guanine, inosine & hypoxanthine are in the range 7-8. Possible PNP binding modes of Xan and Xao by mammalian PNPs are proposed.

AA Sequence

SIPLPDKAS                                                                 281 - 289

Text Mined References (68)

PMID Year Title
26985580 2016 Computer Simulations Reveal Substrate Specificity of Glycosidic Bond Cleavage in Native and Mutant Human Purine Nucleoside Phosphorylase.
26305965 2015 Isotope-specific and amino acid-specific heavy atom substitutions alter barrier crossing in human purine nucleoside phosphorylase.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25625196 2015 The ligand binding mechanism to purine nucleoside phosphorylase elucidated via molecular dynamics and machine learning.
25338677 Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus.
24792412 2014 AS3MT, GSTO, and PNP polymorphisms: impact on arsenic methylation and implications for disease susceptibility.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24107682 2014 Functional analysis of purine nucleoside phosphorylase as a key enzyme in ribavirin metabolism.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22578971 2012 T- and B-cell defects in a novel purine nucleoside phosphorylase mutation.
22509282 2012 Assessment of the red cell proteome of young patients with unexplained hemolytic anemia by two-dimensional differential in-gel electrophoresis (DIGE).
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
22132981 2011 Purine nucleoside phosphorylase deficiency: a mutation update.
21448452 2011 Metabolites of purine nucleoside phosphorylase (NP) in serum have the potential to delineate pancreatic adenocarcinoma.
21348499 2011 Arsenate and phosphate as nucleophiles at the transition states of human purine nucleoside phosphorylase.
21269460 2011 Initial characterization of the human central proteome.
20532380 2010 Genetic polymorphism of As3MT and delayed urinary DMA excretion after organic arsenic intake from oyster ingestion.
20458337 MHC class II-associated proteins in B-cell exosomes and potential functional implications for exosome biogenesis.
20108972 2010 Conformational states of human purine nucleoside phosphorylase at rest, at work, and with transition state analogues.
19932753 2010 Crystal structure and molecular dynamics studies of human purine nucleoside phosphorylase complexed with 7-deazaguanine.
19425594 2009 Altered enthalpy-entropy compensation in picomolar transition state analogues of human purine nucleoside phosphorylase.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19191546 2009 Loop-tryptophan human purine nucleoside phosphorylase reveals submillisecond protein dynamics.
19172318 2009 Molecular modeling and dynamics studies of purine nucleoside phosphorylase from Bacteroides fragilis.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
19001417 2009 Nicotinamide riboside and nicotinic acid riboside salvage in fungi and mammals. Quantitative basis for Urh1 and purine nucleoside phosphorylase function in NAD+ metabolism.
18946041 2008 Atomic detail of chemical transformation at the transition state of an enzymatic reaction.
18938130 2008 Effect of the phosphate substrate on drug-inhibitor binding to human purine nucleoside phosphorylase.
18790691 2008 Structural studies of human purine nucleoside phosphorylase: towards a new specific empirical scoring function.
18281957 2008 Remote mutations alter transition-state structure of human purine nucleoside phosphorylase.
18281956 2008 Altered thermodynamics from remote mutations altering human toward bovine purine nucleoside phosphorylase.
17639373 2008 Role of ionization of the phosphate cosubstrate on phosphorolysis by purine nucleoside phosphorylase (PNP) of bacterial (E. coli) and mammalian (human) origin.
17221831 2007 The G51S purine nucleoside phosphorylase polymorphism is associated with cognitive decline in Alzheimer's disease patients.
16964310 2006 TAT-mediated intracellular delivery of purine nucleoside phosphorylase corrects its deficiency in mice.
16930574 2006 Intracellular delivery of purine nucleoside phosphorylase (PNP) fused to protein transduction domain corrects PNP deficiency in vitro.
16169070 2005 A human protein-protein interaction network: a resource for annotating the proteome.
15582582 2005 Crystal structure of human PNP complexed with hypoxanthine and sulfate ion.
15571269 2004 Novel mutations and hot-spots in patients with purine nucleoside phosphorylase deficiency.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15047506 2004 Role of purine nucleoside phosphorylase in interactions between 2',3'-dideoxyinosine and allopurinol, ganciclovir, or tenofovir.
14706628 2004 Structures of human purine nucleoside phosphorylase complexed with inosine and ddI.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
13679062 2003 Docking and small angle X-ray scattering studies of purine nucleoside phosphorylase.
12928150 2003 Genetic variation in genes associated with arsenic metabolism: glutathione S-transferase omega 1-1 and purine nucleoside phosphorylase polymorphisms in European and indigenous Americans.
12914785 2003 Crystal structure of human purine nucleoside phosphorylase at 2.3A resolution.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12180982 2002 Xanthosine and xanthine. Substrate properties with purine nucleoside phosphorylases, and relevance to other enzyme systems.
12068295 2002 Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA.
11964161 2002 Identification of Ca2+-dependent binding partners for the neuronal calcium sensor protein neurocalcin delta: interaction with actin, clathrin and tubulin.
11453975 2001 Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient.
10884411 2000 A DNA enzyme with N-glycosylase activity.
9737781 1998 Direct evidence of autosomal recessive inheritance of Arg24 to termination codon in purine nucleoside phosphorylase gene in a family with a severe combined immunodeficiency patient.
9305964 1997 Purine nucleoside phosphorylase. 3. Reversal of purine base specificity by site-directed mutagenesis.
9305963 1997 Purine nucleoside phosphorylase. 2. Catalytic mechanism.
9305962 1997 Purine nucleoside phosphorylase. 1. Structure-function studies.
9067751 1997 Mutations in purine nucleoside phosphorylase deficiency.
8931706 1996 Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient.
6771276 1980 Characterization of purine nucleoside phosphorylase from human granulocytes and its metabolism of deoxyribonucleosides.
6087295 1984 Human purine nucleoside phosphorylase cDNA sequence and genomic clone characterization.
3029074 1987 A human purine nucleoside phosphorylase deficiency caused by a single base change.
2104852 1990 Three-dimensional structure of human erythrocytic purine nucleoside phosphorylase at 3.2 A resolution.
1931007 1991 Purine nucleoside phosphorylase deficiency.
1923769 1991 Sequence and functional characterization of the human purine nucleoside phosphorylase promoter.
1560016 1992 Exon skipping in purine nucleoside phosphorylase mRNA processing leading to severe immunodeficiency.
1384322 1992 Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency.
100152 1978 Purine nucleoside phosphorylase in chronic lymphocytic leukemia (CLL).