Pnp (purine-nucleoside phosphorylase) - Rat Genome Database

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Gene: Pnp (purine-nucleoside phosphorylase) Mus musculus
Analyze
No known orthologs.
Symbol: Pnp
Name: purine-nucleoside phosphorylase
RGD ID: 10999
MGI Page MGI
Description: Enables guanosine phosphorylase activity and purine-nucleoside phosphorylase activity. Involved in several processes, including allantoin metabolic process; purine nucleoside catabolic process; and purine nucleoside monophosphate metabolic process. Acts upstream of or within several processes, including guanosine catabolic process; positive regulation of lymphocyte activation; and purine nucleoside triphosphate metabolic process. Is active in cytosol. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and sensory organ. Used to study purine nucleoside phosphorylase deficiency. Human ortholog(s) of this gene implicated in purine nucleoside phosphorylase deficiency and purine-pyrimidine metabolic disorder. Orthologous to human PNP (purine nucleoside phosphorylase).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: AL024301; AU015798; inosine phosphorylase; inosine-guanosine phosphorylase; Np; Np-1; Np-2; P; Pnp1; purine nucleoside phosphorylase; purine-nucleoside phosphorylase 1
RGD Orthologs
Alliance Orthologs
More Info homologs ...
Related Pseudogenes: Gm18587  
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391451,181,760 - 51,190,869 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1451,168,539 - 51,190,869 (+)EnsemblGRCm39 Ensembl
GRCm381450,944,303 - 50,953,412 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1450,931,082 - 50,965,237 (+)EnsemblGRCm38mm10GRCm38
MGSCv371451,563,978 - 51,573,087 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361449,866,476 - 49,875,363 (+)NCBIMGSCv36mm8
Celera1448,424,564 - 48,426,366 (+)NCBICelera
Cytogenetic Map14C1NCBI
cM Map1426.31NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adenosine catabolic process  (IDA,IMP)
allantoin metabolic process  (IDA,IMP,ISO)
alpha-beta T cell differentiation  (IMP)
amide catabolic process  (IDA,IMP,ISO)
AMP catabolic process  (IDA,IMP)
AMP salvage  (IDA)
apoptotic mitochondrial changes  (IMP)
B cell differentiation  (IMP)
dAMP catabolic process  (IMP,ISO)
deoxyadenosine catabolic process  (IMP,ISO)
deoxyguanosine catabolic process  (IMP)
deoxyinosine catabolic process  (IMP,ISO)
dGMP catabolic process  (IMP,ISO)
dGTP metabolic process  (IMP)
DNA repair  (IMP)
GMP catabolic process  (IMP)
GMP catabolic process to guanine  (IMP)
GMP salvage  (IDA)
GTP biosynthetic process  (IMP)
guanosine catabolic process  (IMP)
immune response  (ISO)
IMP catabolic process  (IMP,ISO)
IMP salvage  (IDA)
inosine catabolic process  (IDA,IMP,ISO)
intrinsic apoptotic signaling pathway in response to DNA damage  (IMP)
negative regulation of T cell apoptotic process  (IMP)
nicotinamide riboside catabolic process  (ISO)
nucleobase-containing compound metabolic process  (ISO)
nucleoside metabolic process  (IEA)
nucleotide biosynthetic process  (ISO)
positive regulation of alpha-beta T cell differentiation  (IMP,ISO)
positive regulation of B cell differentiation  (IMP)
positive regulation of DNA repair  (IMP)
positive regulation of interleukin-2 production  (ISO)
positive regulation of T cell mediated cytotoxicity  (IMP)
positive regulation of T cell proliferation  (IMP,ISO)
purine nucleoside metabolic process  (IC,IDA,IMP)
purine ribonucleoside salvage  (IEA)
purine-containing compound salvage  (ISO)
response to gamma radiation  (IMP)
response to xenobiotic stimulus  (ISO)
T cell apoptotic process  (IMP)
T cell proliferation  (IMP)
urate biosynthetic process  (IMP,ISO)

Cellular Component
cytoplasm  (IBA,ISO)
cytosol  (IDA,ISO)
extracellular region  (ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal DNA repair  (IAGP)
abnormal enzyme/coenzyme activity  (IAGP)
abnormal leukocyte cell number  (IAGP)
abnormal leukocyte physiology  (IAGP)
abnormal mitochondrial physiology  (IAGP)
abnormal myelopoiesis  (IAGP)
abnormal urine nucleoside level  (IAGP)
abnormal urine nucleotide level  (IAGP)
decreased B cell proliferation  (IEA)
decreased B-1a cell number  (IEA)
decreased B-2 B cell number  (IEA)
decreased CD4-positive, alpha-beta T cell number  (IAGP)
decreased CD8-positive, alpha-beta T cell number  (IAGP)
decreased CD8-positive, naive alpha-beta T cell number  (IEA)
decreased cytotoxic T cell cytolysis  (IAGP)
decreased double-positive T cell number  (IAGP)
decreased marginal zone B cell number  (IEA)
decreased purine-nucleoside phosphorylase activity  (IAGP)
decreased single-positive T cell number  (IAGP)
decreased T cell number  (IEA)
embryonic lethality during organogenesis, complete penetrance  (IAGP)
impaired humoral immune response  (IEA)
increased B-1b cell number  (IEA)
increased CD8-positive, alpha-beta memory T cell number  (IEA)
increased cellular sensitivity to gamma-irradiation  (IAGP)
increased central memory CD4-positive, alpha-beta T cell number  (IEA)
increased central memory CD8 positive, alpha-beta T cell number  (IEA)
increased double-negative T cell number  (IAGP)
increased effector memory CD4-positive, alpha-beta T cell number  (IEA)
increased effector memory CD8-positive, alpha-beta T cell number  (IEA)
increased IgM level  (IEA)
increased pre-B cell number  (IAGP)
increased T follicular helper cell number  (IEA)
increased thymocyte apoptosis  (IAGP)
prenatal lethality, incomplete penetrance  (IAGP)
thymus hypoplasia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Electronic Transfer of Homolog Data MGD and Homologene mouse data transfer
2. MGDs mouse GO annotations MGD data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. Mouse MP Annotation Import Pipeline RGD automated import pipeline
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. A human purine nucleoside phosphorylase deficiency caused by a single base change. Williams SR, etal., J Biol Chem. 1987 Feb 15;262(5):2332-8.
Additional References at PubMed
PMID:57899   PMID:109081   PMID:198184   PMID:204065   PMID:405970   PMID:718989   PMID:819300   PMID:1235912   PMID:1374046   PMID:1377062   PMID:1387105   PMID:1657464  
PMID:1664183   PMID:1664412   PMID:1781356   PMID:1781357   PMID:1848043   PMID:1902950   PMID:1914521   PMID:2037301   PMID:2045113   PMID:2164218   PMID:2276745   PMID:2293612  
PMID:2307468   PMID:2338144   PMID:2516826   PMID:2570031   PMID:2574857   PMID:2759422   PMID:2984788   PMID:3013507   PMID:3082971   PMID:3182016   PMID:3360305   PMID:3863747  
PMID:3864153   PMID:3920527   PMID:3925939   PMID:6200103   PMID:6407470   PMID:6771276   PMID:6771472   PMID:7063884   PMID:7323947   PMID:7558022   PMID:7671812   PMID:7903568  
PMID:7915936   PMID:7918681   PMID:8064675   PMID:8070902   PMID:8188219   PMID:8268663   PMID:8275705   PMID:8390965   PMID:8415706   PMID:8663040   PMID:9122228   PMID:9325265  
PMID:10349636   PMID:10464095   PMID:10725249   PMID:10859343   PMID:11042159   PMID:11076861   PMID:11217851   PMID:11743878   PMID:11783524   PMID:12466851   PMID:12477932   PMID:14610273  
PMID:14681479   PMID:15489334   PMID:16141072   PMID:16141073   PMID:16602821   PMID:16964310   PMID:17967808   PMID:18799693   PMID:21267068   PMID:21868080   PMID:21873635   PMID:22521465  
PMID:27434733   PMID:28378742   PMID:30024931   PMID:30550785   PMID:32325033   PMID:34321999   PMID:38574132  


Genomics

Variants

.
Variants in Pnp
245 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:631
Count of miRNA genes:388
Interacting mature miRNAs:446
Transcripts:ENSMUST00000048615, ENSMUST00000178092
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1357589Kdnw2_mkidney weight 2 (mouse)Not determined1420887473121269804Mouse
1301777Bglq15_mbody growth late QTL 15 (mouse)Not determined144296241676962593Mouse
1300625Cosz2_mcocaine seizure 2 (mouse)Not determined143504579768785736Mouse
1301424Skull21_mskull morphology 21 (mouse)Not determined144296241676962593Mouse
1357527Epfpq1_mepididymal fat percentage QTL 1 (mouse)Not determined142106245071885801Mouse
4141400Nilac8_mnicotine induced locomotor activity 8 (mouse)Not determined144306584777066045Mouse
27226744Metcl6_mmetatarsal-calcaneal length 6, 5 week (mouse)143032195752937457Mouse
27226774Tibl15_mtibia length 15, 10 week (mouse)143032195787937436Mouse
4142485Modor2_mmodifier of ocular retardation 2 (mouse)Not determined142492624858179769Mouse
4142419Tgq26_mtriglyceride QTL 26 (mouse)Not determined4033731974337319Mouse
1300605El5_mepilepsy 5 (mouse)Not determined144945542583455556Mouse
27226737Metcl12_mmetatarsal-calcaneal length 12, 10 week (mouse)143322195759437449Mouse
1301372Sluc13_msusceptibility to lung cancer 13 (mouse)Not determined141882760452827726Mouse
1301091Bbaa21_mB.burgdorferi-associated arthritis 21 (mouse)Not determined144306584777066045Mouse
4141484Hcbip1_mhexachlorobenzene induced porphyria 1 (mouse)Not determined4733525059962593Mouse
1300998Cia17_mcollagen induced arthritis 17 (mouse)Not determined143033525064335381Mouse
1300805Mors3_mmodifier of obesity related sterility 3 (mouse)Not determined144303727077037418Mouse
10043887Cia50_mcollagen induced arthritis QTL 50 (mouse)Not determined143743018571430320Mouse
10043886Cia49_mcollagen induced arthritis QTL 49 (mouse)Not determined142999699463997133Mouse
27226727Tibl21_mtibia length 21, 16 week (mouse)143412195752937457Mouse
14746973Manh76_mmandible shape 76 (mouse)142228721756287217Mouse
1300909Ath13_matherosclerosis 13 (mouse)Not determined143033525064335381Mouse
13506929Recrq10_mrecombination rate in male meiosis QTL 10 (mouse)142792195761137449Mouse

Markers in Region
AU015798  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381450,964,918 - 50,965,102UniSTSGRCm38
GRCm381450,951,653 - 50,951,837UniSTSGRCm38
MGSCv371451,584,593 - 51,584,777UniSTSGRCm37
MGSCv371451,571,328 - 51,571,512UniSTSGRCm37
Celera1448,425,963 - 48,426,147UniSTS
Celera1447,245,987 - 47,246,171UniSTS
Cytogenetic Map14C1UniSTS
Cytogenetic Map14B-C1UniSTS
Whitehead/MRC_RH14577.52UniSTS
RH125524  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14B-C1UniSTS
Cytogenetic Map14C1UniSTS
Pnp  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381450,950,831 - 50,951,645UniSTSGRCm38
MGSCv371451,570,506 - 51,571,320UniSTSGRCm37
Celera1448,425,138 - 48,425,955UniSTS
Cytogenetic Map14B-C1UniSTS
cM Map1419.5UniSTS
Pnp2  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14B-C1UniSTS
Cytogenetic Map14C1UniSTS
cM Map1426.32UniSTS


Expression


Sequence


Ensembl Acc Id: ENSMUST00000048615   ⟹   ENSMUSP00000043926
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1451,181,759 - 51,190,869 (+)Ensembl
GRCm38.p6 Ensembl1450,944,302 - 50,953,412 (+)Ensembl
Ensembl Acc Id: ENSMUST00000178092   ⟹   ENSMUSP00000136557
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1451,181,963 - 51,202,694 (+)Ensembl
GRCm38.p6 Ensembl1450,944,506 - 50,965,237 (+)Ensembl
Ensembl Acc Id: ENSMUST00000226871   ⟹   ENSMUSP00000154805
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1451,168,539 - 51,188,122 (+)Ensembl
GRCm38.p6 Ensembl1450,931,082 - 50,950,665 (+)Ensembl
Ensembl Acc Id: ENSMUST00000228631
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1451,182,018 - 51,188,351 (+)Ensembl
GRCm38.p6 Ensembl1450,944,561 - 50,950,894 (+)Ensembl
Ensembl Acc Id: ENSMUST00000228712
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1451,181,980 - 51,186,165 (+)Ensembl
GRCm38.p6 Ensembl1450,944,523 - 50,948,708 (+)Ensembl
RefSeq Acc Id: NM_013632   ⟹   NP_038660
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391451,181,760 - 51,190,869 (+)NCBI
GRCm381450,944,303 - 50,953,412 (+)ENTREZGENE
MGSCv371451,563,978 - 51,573,087 (+)RGD
Celera1448,424,564 - 48,426,366 (+)RGD
cM Map14 ENTREZGENE
Sequence:
RefSeq Acc Id: NP_038660   ⟸   NM_013632
- UniProtKB: Q4FJT6 (UniProtKB/Swiss-Prot),   P23492 (UniProtKB/Swiss-Prot),   Q543K9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSMUSP00000136557   ⟸   ENSMUST00000178092
Ensembl Acc Id: ENSMUSP00000043926   ⟸   ENSMUST00000048615
Ensembl Acc Id: ENSMUSP00000154805   ⟸   ENSMUST00000226871
Protein Domains
Nucleoside phosphorylase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P23492-F1-model_v2 AlphaFold P23492 1-289 view protein structure

Promoters
RGD ID:8682136
Promoter ID:EPDNEW_M19099
Type:initiation region
Name:Pnp_1
Description:Mus musculus purine-nucleoside phosphorylase , mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm381450,944,506 - 50,944,566EPDNEW
RGD ID:6825287
Promoter ID:MM_KWN:16572
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:3T3L1_Day0,   3T3L1_Day1,   3T3L1_Day2,   3T3L1_Day3,   3T3L1_Day4,   3T3L1_Day6,   BoneMarrow_0Hour,   BoneMarrow_2Hour,   BoneMarrow_4Hour,   Brain,   ES_Cell,   Kidney,   Liver,   Lung,   MEF_B4,   MEF_B6,   Spleen
Transcripts:OTTMUST00000080867
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv361451,563,991 - 51,564,491 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:97365 AgrOrtholog
Ensembl Genes ENSMUSG00000115338 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSMUST00000048615 ENTREZGENE
  ENSMUST00000048615.13 UniProtKB/TrEMBL
  ENSMUST00000226871.2 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.1580 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro Nucleoside_phosphorylase_d UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleoside_phosphorylase_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pur_Nuc_Pase_Ino/Guo-sp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Purine_phosphorylase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Purine_phosphorylase-2_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:18950 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
MGD MGI:97365 ENTREZGENE
NCBI Gene 18950 ENTREZGENE
PANTHER PTHR11904 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PURINE NUCLEOSIDE PHOSPHORYLASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PNP_UDP_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Pnp PhenoGen
PIRSF PurNPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PNP_MTAP_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53167 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2I3BS22_MOUSE UniProtKB/TrEMBL
  P23492 ENTREZGENE, UniProtKB/Swiss-Prot
  Q4FJT6 ENTREZGENE
  Q543K9 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary Q4FJT6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 Pnp  purine-nucleoside phosphorylase  Pnp1  purine-nucleoside phosphorylase 1  Symbol and/or name change 5135510 APPROVED