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
purine nucleoside phosphorylase
purine nucleoside phosphorylase
purine nucleoside phosphorylase
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
Purine metabolism pathway
Purine catabolism pathway
Purine salvage pathway
Metabolism of nucleotides pathway
Metabolism pathway
KEGG
Purine metabolism pathway
Pyrimidine metabolism pathway
Nicotinate and nicotinamide metabolism pathway
INOH
Nicotinate Nicotinamide metabolism pathway
Purine nucleotides nucleosides metabolism pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.75514
RefSeq NM_000270
HUGO
OMIM
CCDS CCDS9552
HPRD 01247
IMGT
EMBL
GenPept
RNA Seq Atlas