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Gene Detail
purine-nucleoside phosphorylase
Synonyms Np, Np-1, Np-2, Pnp, Pnp1
Feature Type protein coding gene
Genetic Map
Chromosome 14
26.31 cM, cytoband B-C1
Detailed Genetic Map ± 1 cM

Mapping data(59)
Sequence Map
Chr14:50944302-50953412 bp, + strand
From VEGA annotation of GRCm38

  9111 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
HomoloGene:227  Vertebrate Homology Class
1 human; 2 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 2 cattle; 1 dog; 1 chicken; 1 western clawed frog

Protein SuperFamily: PurNPase
Gene Tree: Pnp

Human Homolog PNP, purine nucleoside phosphorylase
NCBI Gene ID 4860
neXtProt AC  NX_P00491
Human Synonyms  NP, PRO1837, PUNP
Human Chr (Location)  14q13.1; chr14:20469379-20478006 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human PNP
alleles, and
All mutations/alleles(19) : Chemically induced (ENU)(6) Gene trapped(11) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
Nullizygous mice show impaired thymocyte differentiation, T cell function and mitochondrial DNA repair, altered lymphocyte subpopulations and metabolism, and enhanced thymocyte apoptosis and sensitivity to gamma-irradiation. ENU-induced mutants show a gradual decline in T cell number and function.
Human Diseases Modeled Using Mouse Pnp (1)    Alleles Annotated to Human Diseases(3)   
Pnp interacts with 228 markers (Mir1a-1, Mir1a-2, Mir7-2, ...)
Gene Ontology
All GO classifications: (56 annotations)
Process apoptotic mitochondrial changes, deoxyguanosine catabolic process, ...
Component cytoplasm, cytoskeleton, ...
Function catalytic activity, drug binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Literature Summary: (2 records)
Data Summary: Results (152)    Tissues (102)    Images (32)
Theiler Stages: 22, 23
Assay TypeResults
RNA in situ 152
cDNA source data(16)
External Resources: Allen Institute   GEO   Expression Atlas
All nucleic(19) Genomic(1) cDNA(16) Primer pair(1) Other(1)
Microarray probesets(4)
Other database
VEGA Gene ModelOTTMUSG00000032495 (Evidence)
Ensembl Gene ModelENSMUSG00000021871 (Evidence)
Entrez Gene18950 (Evidence)
DoTSDT.110766338, DT.535230, DT.91447028
Consensus CDS ProjectCCDS27029.1
International Mouse Knockout Project StatusPnp
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000032495 VEGA Gene Model | MGI Sequence Detail 9111 C57BL/6J ±  kb
transcript OTTMUST00000080867 VEGA | MGI Sequence Detail 2942 Not Applicable 
polypeptide OTTMUSP00000043119 VEGA | MGI Sequence Detail 289 Not Applicable 

For the selected sequences
All sequences(34) RefSeq(2) UniProt(2)
Polymorphisms All PCR and RFLP(10) : PCR(4) RFLP(6) SNPs within 2kb(134 from dbSNP Build 137)    SNPs within 2kb including multiple locations(204)
InterPro IPR000845 Nucleoside phosphorylase domain
InterPro IPR001369 PNP/MTAP phosphorylase
InterPro IPR011268 Purine nucleoside phosphorylase
InterPro IPR011270 Purine nucleoside phosphorylase I, inosine/guanosine-specific
InterPro IPR018099 Purine phosphorylase, family 2, conserved site
Protein Ontology PR:000011344 purine nucleoside phosphorylase
References (Earliest) J:5817 Kozak C, et al., Gene linkage analysis in the mouse by somatic cell hybridization: assignment of adenine phosphoribosyltransferase to chromosome 8 and alpha-galactosidase to the X chromosome. Somatic Cell Genet. 1975 Oct;1(4):371-82
(Latest) J:153498 Diez-Roux G, et al., A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011;9(1):e1000582
All references(97)
Disease annotation references (2)
accession IDs
MGD-MRK-12917, MGD-MRK-12918, MGD-MRK-12919, MGI:2145718, MGI:2145723

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 5.19
The Jackson Laboratory