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; 2 rhesus macaque; 2 cattle; 1 dog; 1 chicken

Protein SuperFamily: PurNPase
Gene Tree: Pnp

Human homologs

Human Homolog		PNP, purine nucleoside phosphorylase
NCBI Gene ID		4860
neXtProt AC		NX_P00491
Human Synonyms		NP, PRO1837, PUNP
Human Chr (Location)		14q13.1; chr14:20937538-20946165 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human PNP

Alleles and phenotypes

All alleles(19) : Targeted(2) Gene trapped(11) Chemically induced(6)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (51 annotations)

Process	deoxyguanosine catabolic process, deoxyinosine 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)
Theiler Stages: 22, 23

Assay Type	Results
RNA in situ	152

cDNA source data(16)
External Resources: Allen Institute   GEO   ArrayExpress

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.110766338, DT.535230, DT.91447028
EC	2.4.2.1
Consensus CDS Project	CCDS27029.1
International Mouse Knockout Project Status	Pnp

Sequences

Length	Strain/Species
genomic	OTTMUSG00000032495	VEGA Gene Model | MGI Sequence Detail	9111	C57BL/6J
transcript	OTTMUST00000080867	VEGA | MGI Sequence Detail	2942	Not Applicable
polypeptide	OTTMUSP00000043119	VEGA | MGI Sequence Detail	289	Not Applicable

All sequences(34) RefSeq(2) UniProt(2)

Polymorphisms

All PCR and RFLP(10) : PCR(4) RFLP(6) SNPs(34 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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)

Other accession IDs

MGD-MRK-12917, MGD-MRK-12918, MGD-MRK-12919, MGI:2145718, MGI:2145723