InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: PNP

Summary

InnateDB Gene

IDBG-2272.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PNP

Gene Name

purine nucleoside phosphorylase

Synonyms

NP; PRO1837; PUNP

Species

Homo sapiens

Ensembl Gene

ENSG00000198805

Encoded Proteins

IDBP-2274

purine nucleoside phosphorylase

IDBP-601402

purine nucleoside phosphorylase

IDBP-598839

purine nucleoside phosphorylase

IDBP-592354

purine nucleoside phosphorylase

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 14:20468954-20477094

Strand

Forward strand

Band

q11.2

Transcripts

ENST00000361505	ENSP00000354532
ENST00000553418	ENSP00000450663
ENST00000556293
ENST00000557229
ENST00000554056
ENST00000553591	ENSP00000452421
ENST00000554065	ENSP00000451108
ENST00000556754

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 28 experimentally validated interaction(s) in this database.

Experimentally validated
Total	28 [view]
Protein-Protein	27 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001882	nucleoside binding
GO:0002060	purine nucleobase binding
GO:0003824	catalytic activity
GO:0004731	purine-nucleoside phosphorylase activity
GO:0008144	drug binding
GO:0042301	phosphate ion binding

Biological Process

GO:0006139	nucleobase-containing compound metabolic process
GO:0006144	purine nucleobase metabolic process
GO:0006148	inosine catabolic process
GO:0006195	purine nucleotide catabolic process
GO:0006738	nicotinamide riboside catabolic process
GO:0006955	immune response
GO:0009116	nucleoside metabolic process
GO:0034356	NAD biosynthesis via nicotinamide riboside salvage pathway
GO:0034418	urate biosynthetic process
GO:0042102	positive regulation of T cell proliferation
GO:0042493	response to drug
GO:0043101	purine-containing compound salvage
GO:0044281	small molecule metabolic process
GO:0046638	positive regulation of alpha-beta T cell differentiation
GO:0055086	nucleobase-containing small molecule metabolic process
GO:0070970	interleukin-2 secretion

Cellular Component

GO:0005622	intracellular
GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0005856	cytoskeleton
GO:0070062	extracellular vesicular exosome

Orthologs

No orthologs found for this gene

Pathways

NETPATH

REACTOME

REACT_1923

Purine salvage pathway

REACT_2086

Purine catabolism pathway

REACT_1698

Metabolism of nucleotides pathway

REACT_522

Purine metabolism pathway

REACT_111217

Metabolism pathway

KEGG

hsa00240

Pyrimidine metabolism pathway

hsa00760

Nicotinate and nicotinamide metabolism pathway

hsa00230

Purine metabolism pathway

INOH

INOH website

Nicotinate Nicotinamide metabolism pathway

INOH website

Purine nucleotides nucleosides metabolism pathway

PID NCI

Cross-References

SwissProt

P00491

TrEMBL

G3V2H3 G3V393 G3V5M2 Q8N7G1 Q9P1G4 V9HWH6

UniProt Splice Variant

Entrez Gene

4860

UniGene

Hs.75514

RefSeq

NM_000270

HUGO

HGNC:7892

OMIM

164050

CCDS

CCDS9552

HPRD

IMGT

EMBL

AF116670 AK098544 AK313490 AL355075 AY817667 BC104206 BC104207 BC106074 CH471078 CR407607 EU794649 J02672 M13951 M13952 M13953 X00737

GenPept

AAA36460 AAF71090 AAI04207 AAI04208 AAI06075 AAV68044 ACJ13703 BAC05327 BAG36272 CAA25320 CAG28535 EAW66458 EAW66459

RNA Seq Atlas

4860