PNP purine nucleoside phosphorylase [Homo sapiens (human)] - Gene

Summary

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Official Symbol: PNPprovided by HGNC
Official Full Name: purine nucleoside phosphorylaseprovided by HGNC
Primary source: HGNC:7892
See related: HPRD:01247; MIM:164050
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NP; PUNP; PRO1837
Summary: This gene encodes an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. The enzyme is trimeric, containing three identical subunits. Mutations which result in nucleoside phosphorylase deficiency result in defective T-cell (cell-mediated) immunity but can also affect B-cell immunity and antibody responses. Neurologic disorders may also be apparent in patients with immune defects. A known polymorphism at aa position 51 that does not affect enzyme activity has been described. A pseudogene has been identified on chromosome 2. [provided by RefSeq, Jul 2008]

Genomic context

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Location :: 14q13.1

Sequence :: Chromosome: 14; NC_000014.8 (20937538..20946165)

See PNP in Epigenomics, MapViewer

Chromosome 14 - NC_000014.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

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Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.
Title: T- and B-cell defects in a novel purine nucleoside phosphorylase mutation.
Biochemical and genetic data on a cohort of seven patients from six families identified as PNPase deficient, is reported.
Title: Purine nucleoside phosphorylase deficiency: a mutation update.
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.
Title: Metabolites of purine nucleoside phosphorylase (NP) in serum have the potential to delineate pancreatic adenocarcinoma.
investigation of catalytic mechanisms involved in catalysis by PNP: transition states in arsenolysis and phosphorolysis
Title: Arsenate and phosphate as nucleophiles at the transition states of human purine nucleoside phosphorylase.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Genetic polymorphism of As3MT and delayed urinary DMA excretion after organic arsenic intake from oyster ingestion.
Results show that some regions, responsible for entrance and exit of substrate, present a conformational variability, which is dissected by dynamics simulation analysis.
Title: Crystal structure and molecular dynamics studies of human purine nucleoside phosphorylase complexed with 7-deazaguanine.
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.
Title: Conformational states of human purine nucleoside phosphorylase at rest, at work, and with transition state analogues.
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
Title: Molecular modeling and dynamics studies of purine nucleoside phosphorylase from Bacteroides fragilis.
Altered enthalpy-entropy compensation in picomolar transition state analogues of human purine nucleoside phosphorylase
Title: Altered enthalpy-entropy compensation in picomolar transition state analogues of human purine nucleoside phosphorylase.
Results describe a tryptophan-free mutant of purine nucleoside phosphorylase and its dynamic activity.
Title: Loop-tryptophan human purine nucleoside phosphorylase reveals submillisecond protein dynamics.

Submit: New GeneRIF Correction See all (24)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Purine-nucleoside phosphorylase deficiency

MIM: 613179

Genetic Testing Registry

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
P00491	P51693	APLP1	HPRD	PubMed
P00491	Coiled-coil domain containing 90B	CCDC90B	HPRD	PubMed
P00491	Q5T3J3	LRIF1	HPRD	PubMed
P00491	P61601	NCALD	HPRD	PubMed
P00491	Hypothetical protein DKFZp564O0523	RBM48	HPRD	PubMed
P00491	Q00059	TFAM	HPRD	PubMed
P00491	Q9H5Q4	TFB2M	HPRD	PubMed
P00491	P04637	TP53	HPRD	PubMed
P00491	Q9UKY1	ZHX1	HPRD	PubMed
BioGRID:110921	BioGRID:106830	APLP1	BioGRID	PubMed	Two-hybrid
BioGRID:110921	BioGRID:121923	CCDC90B	BioGRID	PubMed	Two-hybrid
BioGRID:110921	BioGRID:107452	CDK2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110921	BioGRID:119699	DNAJB11	BioGRID	PubMed	Co-fractionation
BioGRID:110921	BioGRID:108340	ENO2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110921	BioGRID:109001	GLO1	BioGRID	PubMed	Co-fractionation
BioGRID:110921	BioGRID:114360	GMPS	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110921	BioGRID:109883	ITGA4	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110921	BioGRID:120905	LRIF1	BioGRID	PubMed	Two-hybrid
BioGRID:110921	BioGRID:110611	MTAP	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110921	BioGRID:126369	NADK2	BioGRID	PubMed	Co-fractionation
BioGRID:110921	BioGRID:110802	NDUFV1	BioGRID	PubMed	Co-fractionation
BioGRID:110921	BioGRID:119524	PPME1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110921	BioGRID:119001	PSAT1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110921	BioGRID:111684	PSMD5	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110921	BioGRID:111799	RAB1A	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110921	BioGRID:123855	RBM48	BioGRID	PubMed	Two-hybrid
BioGRID:110921	BioGRID:119307	SBDS	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110921	BioGRID:119602	SIRT7	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110921	BioGRID:123307	TMEM177	BioGRID	PubMed	Co-fractionation
BioGRID:110921	BioGRID:113010	TP53	BioGRID	PubMed	Two-hybrid
BioGRID:110921	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110921	BioGRID:115791	UBD	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110921	BioGRID:119509	UCHL5	BioGRID	PubMed	Reconstituted Complex
BioGRID:110921	BioGRID:116406	ZHX1	BioGRID	PubMed	Two-hybrid

Pathways from BioSystems

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Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Metabolism of nucleotides, organism-specific biosystem (from REACTOME)
Metabolism of nucleotides, organism-specific biosystemNucleotides and their derivatives are used for short-term energy storage (ATP, GTP), for intra- and extra-cellular signaling (cAMP; adenosine), as enzyme cofactors (NAD, FAD), and for the synthesis o...
Nicotinate and nicotinamide metabolism, organism-specific biosystem (from KEGG)
Nicotinate and nicotinamide metabolism, organism-specific biosystem
Nicotinate and nicotinamide metabolism
Nicotinate and nicotinamide metabolism, conserved biosystem (from KEGG)
Nicotinate and nicotinamide metabolism, conserved biosystem
Nicotinate and nicotinamide metabolism
Purine catabolism, organism-specific biosystem (from REACTOME)
Purine catabolism, organism-specific biosystemThe purine bases guanine and hypoxanthine (derived from adenine by events in the purine salvage pathways) are converted to xanthine and then to uric acid, which is excreted from the body (Watts 1974)...
Purine metabolism, organism-specific biosystem (from KEGG)
Purine metabolism, organism-specific biosystem
Purine metabolism
Purine metabolism, organism-specific biosystem (from REACTOME)
Purine metabolism, organism-specific biosystemThe events of human purine metabolism are conveniently, if somewhat arbitrarily, grouped into four pathways: de novo synthesis of inosine 5'-monophosphate (IMP), the biosynthesis of other purine ribo...
Purine metabolism, conserved biosystem (from KEGG)
Purine metabolism, conserved biosystem
Purine metabolism
Purine salvage, organism-specific biosystem (from REACTOME)
Purine salvage, organism-specific biosystemNucleosides and free bases generated by DNA and RNA breakdown are converted back to nucleotide monophosphates, allowing them to re-enter the pathway of purine biosynthesis. Nucleosides and free bases...
Pyrimidine metabolism, organism-specific biosystem (from KEGG)
Pyrimidine metabolism, organism-specific biosystem
Pyrimidine metabolism
Pyrimidine metabolism, conserved biosystem (from KEGG)
Pyrimidine metabolism, conserved biosystem
Pyrimidine metabolism
adenine and adenosine salvage III, organism-specific biosystem (from BIOCYC)
adenine and adenosine salvage III, organism-specific biosystemAdenosine nucleotides can be synthesized de novo. In that route : AMP (AMP) is synthesized via : IMP (IMP) and : ADENYLOSUCC, which is converted to AMP by the action of : ASL-MONOMER (see : PWY-6126)...
adenine and adenosine salvage III, conserved biosystem (from BIOCYC)
adenine and adenosine salvage III, conserved biosystemAdenosine nucleotides can be synthesized de novo. In that route |FRAME: AMP| (AMP) is synthesized via |FRAME: IMP| (IMP) and |FRAME: ADENYLOSUCC| , which is converted to AMP by the action of |FRAME: ...
adenosine nucleotides degradation II, organism-specific biosystem (from BIOCYC)
adenosine nucleotides degradation II, organism-specific biosystemGeneral Background The distinction between nucleoside degradation and salvage is not always straightforward. A general rule is that degradation pathways start with the nucleotide forms and convert t...
adenosine nucleotides degradation II, conserved biosystem (from BIOCYC)
adenosine nucleotides degradation II, conserved biosystemGeneral Background The distinction between nucleoside degradation and salvage is not always straight forward. A general rule is that degradation pathways start with the nucleotide forms and convert ...
arsenate detoxification I (glutaredoxin), organism-specific biosystem (from BIOCYC)
arsenate detoxification I (glutaredoxin), organism-specific biosystemGeneral Background While the jury is still out about whether Napoleon Bonaparte died of arsenic poisoning or cancer , it is agreed by all that arsenic is a potent toxicant. Indeed, the results of ex...
arsenate detoxification I (glutaredoxin), conserved biosystem (from BIOCYC)
arsenate detoxification I (glutaredoxin), conserved biosystemGeneral Background While the jury is still out about whether Napoleon Bonaparte died of arsenic poisoning or cancer |CITS: [367316] [6750413]|, it is agreed by all that arsenic is a potent toxicant....
guanine and guanosine salvage I, organism-specific biosystem (from BIOCYC)
guanine and guanosine salvage I, organism-specific biosystem
guanine and guanosine salvage I
guanosine nucleotides degradation III, organism-specific biosystem (from BIOCYC)
guanosine nucleotides degradation III, organism-specific biosystem
guanosine nucleotides degradation III
guanosine nucleotides degradation III, conserved biosystem (from BIOCYC)
guanosine nucleotides degradation III, conserved biosystemGeneral Background The distinction between nucleoside degradation and salvage is not always straight forward. A general rule is that degradation pathways start with the nucleotide forms and convert ...
purine nucleotides degradation II (aerobic), organism-specific biosystem (from BIOCYC)
purine nucleotides degradation II (aerobic), organism-specific biosystem
purine nucleotides degradation II (aerobic)
purine nucleotides degradation II (aerobic), conserved biosystem (from BIOCYC)
purine nucleotides degradation II (aerobic), conserved biosystemGeneral Background The pathways of biosynthesis and degradation of mammalian purine and pyrimidine bases, nucleosides and nucleotides were elucidated in the 1950s and 1960s. Much work in the 1970s ...
purine ribonucleosides degradation to ribose-1-phosphate, organism-specific biosystem (from BIOCYC)
purine ribonucleosides degradation to ribose-1-phosphate, organism-specific biosystem
purine ribonucleosides degradation to ribose-1-phosphate
purine ribonucleosides degradation to ribose-1-phosphate, conserved biosystem (from BIOCYC)
purine ribonucleosides degradation to ribose-1-phosphate, conserved biosystemE. coli can use all four naturally occurring purine ribonucleosides (adenosine, guanosine, inosine and xanthosine) as total sources of carbon and energy. The first three (adenosine, guanosine, and i...
urate biosynthesis/inosine 5'-phosphate degradation, organism-specific biosystem (from BIOCYC)
urate biosynthesis/inosine 5'-phosphate degradation, organism-specific biosystem
urate biosynthesis/inosine 5'-phosphate degradation
urate biosynthesis/inosine 5'-phosphate degradation, conserved biosystem (from BIOCYC)
urate biosynthesis/inosine 5'-phosphate degradation, conserved biosystemNitrogen is frequently the limiting nutrient for growth of many crop plants. Legumes solved this problem by establishing a symbiotic relationship with bacteria from the genus |FRAME: TAX-374|, which ...
xanthine and xanthosine salvage, organism-specific biosystem (from BIOCYC)
xanthine and xanthosine salvage, organism-specific biosystem
xanthine and xanthosine salvage

General gene information

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Markers

humpnu2 (e-PCR)
- UniSTS:75043

NP (e-PCR), detects polymorphism
- UniSTS:503175

SHGC-31518 (e-PCR)
- UniSTS:37005

GDB:181553 (e-PCR)
- UniSTS:155279

RH18070 (e-PCR)
- UniSTS:53149

SHGC-78026 (e-PCR)
- UniSTS:101559

NoName (e-PCR)
- UniSTS:489656

RH78901 (e-PCR)
- UniSTS:9186

Genotypes

See PNP SNP Geneview Report
See PNP SNP Genotype Report
See PNP SNP Variation Viewer Report

Homology

Homologs of the PNP gene: The PNP gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, E.gossypii, and S.pombe.
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Clone Names

FLJ94043, FLJ97288, FLJ97312, MGC117396, MGC125915, MGC125916

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
drug binding	IDA Inferred from Direct Assay more info	PubMed
nucleoside binding	IDA Inferred from Direct Assay more info	PubMed
phosphate ion binding	IDA Inferred from Direct Assay more info	PubMed
purine nucleobase binding	IDA Inferred from Direct Assay more info	PubMed
purine-nucleoside phosphorylase activity	EXP Inferred from Experiment more info
purine-nucleoside phosphorylase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
NAD biosynthesis via nicotinamide riboside salvage pathway	IGI Inferred from Genetic Interaction more info	PubMed
immune response	IMP Inferred from Mutant Phenotype more info	PubMed
inosine catabolic process	IDA Inferred from Direct Assay more info	PubMed
interleukin-2 secretion	IMP Inferred from Mutant Phenotype more info	PubMed
nicotinamide riboside catabolic process	IDA Inferred from Direct Assay more info	PubMed
nucleobase-containing compound metabolic process	IDA Inferred from Direct Assay more info	PubMed
nucleobase-containing small molecule metabolic process	TAS Traceable Author Statement more info
positive regulation of T cell proliferation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of alpha-beta T cell differentiation	IDA Inferred from Direct Assay more info	PubMed
purine nucleobase metabolic process	TAS Traceable Author Statement more info
purine nucleotide catabolic process	TAS Traceable Author Statement more info
purine-containing compound salvage	TAS Traceable Author Statement more info
response to drug	IDA Inferred from Direct Assay more info	PubMed
response to drug	IMP Inferred from Mutant Phenotype more info	PubMed
small molecule metabolic process	TAS Traceable Author Statement more info
urate biosynthetic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytoskeleton	IEA Inferred from Electronic Annotation more info
cytosol	TAS Traceable Author Statement more info
intracellular	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: purine nucleoside phosphorylase

Names: purine nucleoside phosphorylase; inosine phosphorylase; inosine-guanosine phosphorylase; purine-nucleoside:orthophosphate ribosyltransferase

NP_000261.2

EC 2.4.2.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_009631.1 RefSeqGene

Range

4997..13624

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_91

mRNA and Protein(s)

NM_000270.3 → NP_000261.2 purine nucleoside phosphorylase

Status: REVIEWED

Source sequence(s)

AL355075, BC106074, BM193354, BU622706

Consensus CDS

CCDS9552.1

UniProtKB/Swiss-Prot

P00491

Conserved Domains (1) summary

TIGR01700
Location:26 – 280
Blast Score: 1075

PNPH; purine nucleoside phosphorylase I, inosine and guanosine-specific

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000014.8 Reference GRCh37.p10 Primary Assembly

Range

20937538..20946165

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000146.1 Alternate HuRef

Range

1059149..1067777

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018925.1 Alternate CHM1_1.0

Range

1936643..1945271

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01061230.1 (15790..24418)	None
genomic	AL355075.6 (42603..50560)	None
genomic	AMYH01005588.1 (48505..57133)	None
genomic	AY817667.1	AAV68044.1
genomic	CH471078.2	EAW66458.1
		EAW66459.1
genomic	J02672.1	AAA36460.1
genomic	M13951.1	AAA36460.1
genomic	M13952.1	AAA36460.1
genomic	M13953.1	AAA36460.1
mRNA	AK098544.1	BAC05327.1
mRNA	AK126154.1	None
mRNA	AK307340.1	None
mRNA	AK307364.1	None
mRNA	AK313490.1	BAG36272.1
mRNA	BC104206.1	AAI04207.1
mRNA	BC104207.1	AAI04208.1
mRNA	BC106074.1	AAI06075.1
mRNA	BM193354.1	None
mRNA	BU622706.1	None
mRNA	CR407607.1	CAG28535.1
mRNA	X00737.1	CAA25320.1