InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PNP

Summary

InnateDB Protein

IDBP-2274.6

Last Modified

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

Gene Symbol

PNP

Protein Name

purine nucleoside phosphorylase

Synonyms

NP; PRO1837; PUNP;

Species

Homo sapiens

Ensembl Protein

ENSP00000354532

InnateDB Gene

IDBG-2272 (PNP)

Protein Structure

UniProt Annotation

Function

The purine nucleoside phosphorylases catalyze the phosphorolytic breakdown of the N-glycosidic bond in the beta- (deoxy)ribonucleoside molecules, with the formation of the corresponding free purine bases and pentose-1-phosphate. {ECO:0000269PubMed:2104852}.

Subcellular Localization

Cytoplasm, cytoskeleton {ECO:0000250}. Cytoplasm {ECO:0000269PubMed:22509282}.

Disease Associations

Purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179]: A disorder that interrupts both the catabolism of inosine into hypoxanthine and guanosine into guanine, and leads to the accumulation of guanosine, inosine, and their deoxified by- products. The main clinical presentation is recurrent infections due to severe T-cell immunodeficiency. Some patients also have neurologic impairment. {ECO:0000269PubMed:1384322, ECO:0000269PubMed:3029074, ECO:0000269PubMed:8931706}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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:0000269PubMed:22509282}.

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR000845 Nucleoside phosphorylase domain
IPR011268 Purine nucleoside phosphorylase
IPR011270 Purine nucleoside phosphorylase I, inosine/guanosine-specific

PFAM

PF01048

PRINTS

PIRSF

PIRSF000477

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P00491