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Pnp
Gene Detail
Symbol

Name
ID
Pnp
purine-nucleoside phosphorylase
MGI:97365
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
Vertebrate
homology
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

HCOP human homology predictions: PNP
Protein SuperFamily: PurNPase
Gene Tree: Pnp

Human
homologs
PNP, purine nucleoside phosphorylase
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 4860
neXtProt AC: NX_P00491

Human Synonyms: NP, PRO1837, PUNP

Human Chr (Location): 14q13.1; chr14:20469379-20478006 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human PNP

Mutations,
alleles, and
phenotypes
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 in Mice Using Pnp (1)    Mutations Annotated to Human Diseases (3)   
Interactions
Pnp interacts with 227 markers (Mir1a-1, Mir1a-2, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (58 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
Expression
Literature Summary: (2 records)
Data Summary: Results (152)    Tissues (102)    Images (32)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 152
cDNA source data(16)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase pnp    NEW 
Molecular
reagents
All nucleic(19) Genomic(1) cDNA(16) Primer pair(1) Other(1)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000032495 (Evidence)
Ensembl Gene Model ENSMUSG00000021871 (Evidence)
Entrez Gene 18950 (Evidence)
DoTS DT.535230, DT.110766338, DT.91447028
EC 2.4.2.1
Consensus CDS Project CCDS27029.1
International Mouse Phenotyping Consortium Status Pnp
Sequences
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)
Protein-related
information
ResourceIDDescription
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(93)
Disease annotation references (2)
Other
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
Citing These Resources
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory