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Gene id

4860

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

PNP Gene UCSC Ensembl

Aliases

NP, PRO1837, PUNP

Gene name

purine nucleoside phosphorylase

Alternate names

purine nucleoside phosphorylase, HEL-S-156an, epididymis secretory sperm binding protein Li 156an, inosine phosphorylase, inosine-guanosine phosphorylase, purine-nucleoside:orthophosphate ribosyltransferase,

Gene location

14q11.2 (20469378: 20478005) Exons: 6 NC_000014.9

Gene summary(Entrez)

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]

OMIM

164050

Protein Summary

Protein general information

P00491

Name: Purine nucleoside phosphorylase (PNP) (EC 2.4.2.1) (Inosine phosphorylase) (Inosine-guanosine phosphorylase)

Length: 289 Mass: 32,118

Tissue specificity: Expressed in red blood cells; overexpressed in red blood cells (cytoplasm) of patients with hereditary non-spherocytic hemolytic anemia of unknown etiology. {ECO

Sequence

MENGYTYEDYKNTAEWLLSHTKHRPQVAIICGSGLGGLTDKLTQAQIFDYGEIPNFPRSTVPGHAGRLVFGFLNG
RACVMMQGRFHMYEGYPLWKVTFPVRVFHLLGVDTLVVTNAAGGLNPKFEVGDIMLIRDHINLPGFSGQNPLRGP
NDERFGDRFPAMSDAYDRTMRQRALSTWKQMGEQRELQEGTYVMVAGPSFETVAECRVLQKLGADAVGMSTVPEV
IVARHCGLRVFGFSLITNKVIMDYESLEKANHEEVLAAGKQAAQKLEQFVSILMASIPLPDKAS

Structural information

Interpro:	IPR000845 IPR035994 IPR011270 IPR011268 IPR018099
Prosite:	PS01240
Pfam:	PF01048
PDB:	1M73 1PF7 1PWY 1RCT 1RFG 1RR6 1RSZ 1RT9 1ULA 1ULB 1V2H 1V3Q 1V41 1V45 1YRY 2A0W 2A0X 2A0Y 2OC4 2OC9 2ON6 2Q7O 3BGS 3D1V 3GB9 3GGS 3INY 3K8O 3K8Q 3PHB 4EAR 4EB8 4ECE 4GKA 5ETJ 5UGF
PDBsum:	1M73 1PF7 1PWY 1RCT 1RFG 1RR6 1RSZ 1RT9 1ULA 1ULB 1V2H 1V3Q 1V41 1V45 1YRY 2A0W 2A0X 2A0Y 2OC4 2OC9 2ON6 2Q7O 3BGS 3D1V 3GB9 3GGS 3INY 3K8O 3K8Q 3PHB 4EAR 4EB8 4ECE 4GKA 5ETJ 5UGF
DIP:	50406
STRING:	ENSP00000354532;

Other Databases

GeneCards: PNP; Malacards: PNP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001882	nucleoside binding	IDA	molecular_function
GO:0002060	purine nucleobase binding	IDA	molecular_function
GO:0004731	purine-nucleoside phospho rylase activity	IDA	molecular_function
GO:0004731	purine-nucleoside phospho rylase activity	IDA	molecular_function
GO:0004731	purine-nucleoside phospho rylase activity	IDA	molecular_function
GO:0004731	purine-nucleoside phospho rylase activity	EXP	molecular_function
GO:0004731	purine-nucleoside phospho rylase activity	IDA	molecular_function
GO:0004731	purine-nucleoside phospho rylase activity	EXP	molecular_function
GO:0004731	purine-nucleoside phospho rylase activity	IDA	molecular_function
GO:0005622	intracellular	IDA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005856	cytoskeleton	IEA	cellular_component
GO:0006139	nucleobase-containing com pound metabolic process	IDA	biological_process
GO:0006148	inosine catabolic process	IDA	biological_process
GO:0006195	purine nucleotide catabol ic process	TAS	biological_process
GO:0006738	nicotinamide riboside cat abolic process	IDA	biological_process
GO:0006955	immune response	IMP	biological_process
GO:0008144	drug binding	IDA	molecular_function
GO:0034356	NAD biosynthesis via nico tinamide riboside salvage pathway	IGI	biological_process
GO:0034418	urate biosynthetic proces s	IDA	biological_process
GO:0042102	positive regulation of T cell proliferation	IDA	biological_process
GO:0042301	phosphate ion binding	IDA	molecular_function
GO:0042493	response to drug	IMP	biological_process
GO:0042493	response to drug	IDA	biological_process
GO:0043101	purine-containing compoun d salvage	IBA	biological_process
GO:0043101	purine-containing compoun d salvage	TAS	biological_process
GO:0046638	positive regulation of al pha-beta T cell different iation	IDA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070970	interleukin-2 secretion	IMP	biological_process
GO:0001882	nucleoside binding	IDA	molecular_function
GO:0002060	purine nucleobase binding	IDA	molecular_function
GO:0003824	catalytic activity	IEA	molecular_function
GO:0004731	purine-nucleoside phospho rylase activity	IEA	molecular_function
GO:0004731	purine-nucleoside phospho rylase activity	IEA	molecular_function
GO:0004731	purine-nucleoside phospho rylase activity	IEA	molecular_function
GO:0004731	purine-nucleoside phospho rylase activity	IDA	molecular_function
GO:0004731	purine-nucleoside phospho rylase activity	IDA	molecular_function
GO:0004731	purine-nucleoside phospho rylase activity	IDA	molecular_function
GO:0004731	purine-nucleoside phospho rylase activity	EXP	molecular_function
GO:0004731	purine-nucleoside phospho rylase activity	IDA	molecular_function
GO:0004731	purine-nucleoside phospho rylase activity	EXP	molecular_function
GO:0004731	purine-nucleoside phospho rylase activity	IDA	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005622	intracellular	IDA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005856	cytoskeleton	IEA	cellular_component
GO:0005856	cytoskeleton	IEA	cellular_component
GO:0006139	nucleobase-containing com pound metabolic process	IEA	biological_process
GO:0006139	nucleobase-containing com pound metabolic process	IDA	biological_process
GO:0006148	inosine catabolic process	IDA	biological_process
GO:0006195	purine nucleotide catabol ic process	TAS	biological_process
GO:0006738	nicotinamide riboside cat abolic process	IDA	biological_process
GO:0006955	immune response	IMP	biological_process
GO:0008144	drug binding	IDA	molecular_function
GO:0009116	nucleoside metabolic proc ess	IEA	biological_process
GO:0016740	transferase activity	IEA	molecular_function
GO:0016757	transferase activity, tra nsferring glycosyl groups	IEA	molecular_function
GO:0016763	transferase activity, tra nsferring pentosyl groups	IEA	molecular_function
GO:0034356	NAD biosynthesis via nico tinamide riboside salvage pathway	IGI	biological_process
GO:0034418	urate biosynthetic proces s	IDA	biological_process
GO:0042102	positive regulation of T cell proliferation	IDA	biological_process
GO:0042278	purine nucleoside metabol ic process	IEA	biological_process
GO:0042301	phosphate ion binding	IDA	molecular_function
GO:0042493	response to drug	IMP	biological_process
GO:0042493	response to drug	IDA	biological_process
GO:0043101	purine-containing compoun d salvage	IBA	biological_process
GO:0043101	purine-containing compoun d salvage	TAS	biological_process
GO:0046638	positive regulation of al pha-beta T cell different iation	IDA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070970	interleukin-2 secretion	IMP	biological_process
GO:0001882	nucleoside binding	IDA	molecular_function
GO:0002060	purine nucleobase binding	IDA	molecular_function
GO:0004731	purine-nucleoside phospho rylase activity	IDA	molecular_function
GO:0004731	purine-nucleoside phospho rylase activity	IDA	molecular_function
GO:0004731	purine-nucleoside phospho rylase activity	IDA	molecular_function
GO:0004731	purine-nucleoside phospho rylase activity	EXP	molecular_function
GO:0004731	purine-nucleoside phospho rylase activity	IDA	molecular_function
GO:0004731	purine-nucleoside phospho rylase activity	EXP	molecular_function
GO:0004731	purine-nucleoside phospho rylase activity	IDA	molecular_function
GO:0005622	intracellular	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0006139	nucleobase-containing com pound metabolic process	IDA	biological_process
GO:0006148	inosine catabolic process	IDA	biological_process
GO:0006195	purine nucleotide catabol ic process	TAS	biological_process
GO:0006738	nicotinamide riboside cat abolic process	IDA	biological_process
GO:0006955	immune response	IMP	biological_process
GO:0008144	drug binding	IDA	molecular_function
GO:0034356	NAD biosynthesis via nico tinamide riboside salvage pathway	IGI	biological_process
GO:0034418	urate biosynthetic proces s	IDA	biological_process
GO:0042102	positive regulation of T cell proliferation	IDA	biological_process
GO:0042301	phosphate ion binding	IDA	molecular_function
GO:0042493	response to drug	IMP	biological_process
GO:0042493	response to drug	IDA	biological_process
GO:0043101	purine-containing compoun d salvage	IBA	biological_process
GO:0043101	purine-containing compoun d salvage	TAS	biological_process
GO:0046638	positive regulation of al pha-beta T cell different iation	IDA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070970	interleukin-2 secretion	IMP	biological_process

KEGG pathways

hsa00240  Pyrimidine metabolism
hsa00760  Nicotinate and nicotinamide metabolism
hsa00230  Purine metabolism
hsa01100  Metabolic pathways

Diseases

Associated diseases	References
Female infertility	INFBASE12810542
Implantation defects	INFBASE12810542
Endometriosis	INFBASE12810542
Immunodeficiency due to purine nucleoside phosphorylase deficiency	OMIM164050
Combined immunodeficiencies (CIDs)	KEGGH00093

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
12810542	Endometrio sis					IL-15 proline-rich protein B61 Dickkopf-1 glycodelin N-acetylglucosamine-6-O-sulfotransferase G0S2 protein purine nucleoside phosphorylase semaphorin E neuronal olfactomedin-related endoplasmic reticulum localized protein mRNA Sam68-like phospho	Show abstract