• Gene id: 4860

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 (20469405: 20477088)     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-me
• 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: 32118
  • 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
  • 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:0005737	cytoplasm	IBA	cellular component
GO:0004731	purine-nucleoside phosphorylase activity	IBA	molecular function
GO:0004731	purine-nucleoside phosphorylase activity	IEA	molecular function
GO:0009116	nucleoside metabolic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0006139	nucleobase-containing compound metabolic process	IEA	biological process
GO:0016763	transferase activity, transferring pentosyl groups	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0004731	purine-nucleoside phosphorylase activity	IEA	molecular function
GO:0046638	positive regulation of alpha-beta T cell differentiation	IDA	biological process
GO:0006148	inosine catabolic process	IDA	biological process
GO:0004731	purine-nucleoside phosphorylase activity	IDA	molecular function
GO:0042102	positive regulation of T cell proliferation	IDA	biological process
GO:0034418	urate biosynthetic process	IDA	biological process
GO:0006195	purine nucleotide catabolic process	TAS	biological process
GO:0043312	neutrophil degranulation	TAS	biological process
GO:1904813	ficolin-1-rich granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	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:0034774	secretory granule lumen	TAS	cellular component
GO:0043101	purine-containing compound salvage	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0004731	purine-nucleoside phosphorylase activity	IEA	molecular function
GO:0042278	purine nucleoside metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0042301	phosphate ion binding	IDA	molecular function
GO:0004731	purine-nucleoside phosphorylase activity	IDA	molecular function
GO:0004731	purine-nucleoside phosphorylase activity	IDA	molecular function
GO:0004731	purine-nucleoside phosphorylase activity	IDA	molecular function
GO:0004731	purine-nucleoside phosphorylase activity	IDA	molecular function
GO:0006738	nicotinamide riboside catabolic process	IDA	biological process
GO:0006139	nucleobase-containing compound metabolic process	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0002060	purine nucleobase binding	IDA	molecular function
GO:0001882	nucleoside binding	IDA	molecular function
GO:0042493	response to drug	IDA	biological process
GO:0008144	drug binding	IDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0009165	nucleotide biosynthetic process	IGI	biological process
GO:0070970	interleukin-2 secretion	IMP	biological process
GO:0006955	immune response	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0042493	response to drug	IMP	biological process

KEGG pathways

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

Diseases

Associated diseases	References
Combined immunodeficiency	KEGG:H00093
Combined immunodeficiency	KEGG:H00093
Purine-pyrimidine metabolic disorder	PMID:3029074
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881