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Pnp purine-nucleoside phosphorylase [ Mus musculus (house mouse) ]

Gene ID: 18950, updated on 8-Nov-2022

Summary

Official Symbol
Pnpprovided by MGI
Official Full Name
purine-nucleoside phosphorylaseprovided by MGI
Primary source
MGI:MGI:97365
See related
Ensembl:ENSMUSG00000115338 AllianceGenome:MGI:97365
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Np; Np-1; Np-2; Pnp1
Summary
Enables guanosine phosphorylase activity and purine-nucleoside phosphorylase activity. Involved in allantoin metabolic process and nucleobase-containing small molecule metabolic process. Acts upstream of or within several processes, including nucleobase-containing small molecule metabolic process; positive regulation of lymphocyte activation; and urate biosynthetic process. Located 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). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in placenta adult (RPKM 51.3), large intestine adult (RPKM 50.6) and 27 other tissues See more
Orthologs
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Genomic context

See Pnp in Genome Data Viewer
Location:
14 C1; 14 26.31 cM
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (51181760..51190869)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (50944303..50953412)

Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene Apex1 promoter region Neighboring gene apurinic/apyrimidinic endonuclease 1 Neighboring gene phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 Neighboring gene predicted gene, 52117 Neighboring gene predicted gene, 38316 Neighboring gene purine-nucleoside phosphorylase 2 Neighboring gene predicted gene 8518

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables catalytic activity IEA
Inferred from Electronic Annotation
more info
 
enables glycosyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables guanosine phosphorylase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables nucleoside binding ISO
Inferred from Sequence Orthology
more info
 
enables pentosyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables phosphate ion binding ISO
Inferred from Sequence Orthology
more info
 
enables purine nucleobase binding ISO
Inferred from Sequence Orthology
more info
 
enables purine-nucleoside phosphorylase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables purine-nucleoside phosphorylase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables purine-nucleoside phosphorylase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables purine-nucleoside phosphorylase activity ISO
Inferred from Sequence Orthology
more info
PubMed 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in AMP catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in AMP catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in AMP salvage IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of B cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of DNA repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in GMP catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in GMP catabolic process to guanine IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in GMP salvage IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within GTP biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in IMP catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in IMP catabolic process ISO
Inferred from Sequence Orthology
more info
PubMed 
involved_in IMP salvage IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of T cell apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of T cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in adenosine catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in adenosine catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in allantoin metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in allantoin metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in allantoin metabolic process ISO
Inferred from Sequence Orthology
more info
PubMed 
acts_upstream_of alpha-beta T cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in amide catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in amide catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in amide catabolic process ISO
Inferred from Sequence Orthology
more info
PubMed 
acts_upstream_of_or_within apoptotic mitochondrial changes IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in dAMP catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in dAMP catabolic process ISO
Inferred from Sequence Orthology
more info
PubMed 
involved_in dGMP catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in dGMP catabolic process ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within dGTP metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in deoxyadenosine catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in deoxyadenosine catabolic process ISO
Inferred from Sequence Orthology
more info
PubMed 
acts_upstream_of_or_within deoxyguanosine catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in deoxyguanosine catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within deoxyinosine catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in deoxyinosine catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in deoxyinosine catabolic process ISO
Inferred from Sequence Orthology
more info
PubMed 
acts_upstream_of_or_within guanosine catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in immune response ISO
Inferred from Sequence Orthology
more info
 
involved_in inosine catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within inosine catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in inosine catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within inosine catabolic process ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to DNA damage IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within negative regulation of T cell apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in nicotinamide riboside catabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in nucleobase-containing compound metabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in nucleoside metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in nucleotide biosynthetic process ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within positive regulation of B cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within positive regulation of DNA repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within positive regulation of T cell mediated cytotoxicity IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within positive regulation of T cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within positive regulation of T cell proliferation ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within positive regulation of alpha-beta T cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within positive regulation of alpha-beta T cell differentiation ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of interleukin-2 production ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within purine nucleoside metabolic process IC
Inferred by Curator
more info
PubMed 
acts_upstream_of_or_within purine nucleoside metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within purine nucleoside metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in purine nucleoside metabolic process ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within purine ribonucleoside salvage IEA
Inferred from Electronic Annotation
more info
 
involved_in purine-containing compound salvage ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within response to gamma radiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to xenobiotic stimulus ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within urate biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within urate biosynthetic process ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
is_active_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
located_in extracellular region ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
purine nucleoside phosphorylase
Names
inosine phosphorylase
inosine-guanosine phosphorylase
purine-nucleoside phosphorylase 1
NP_038660.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_013632.4NP_038660.1  purine nucleoside phosphorylase

    See identical proteins and their annotated locations for NP_038660.1

    Status: VALIDATED

    Source sequence(s)
    AK049817, AK153451, BB613747
    Consensus CDS
    CCDS27029.1
    UniProtKB/Swiss-Prot
    P23492
    UniProtKB/TrEMBL
    Q543K9
    Related
    ENSMUSP00000043926.7, ENSMUST00000048615.13
    Conserved Domains (2) summary
    COG0005
    Location:11283
    XapA; Purine nucleoside phosphorylase [Nucleotide transport and metabolism]
    TIGR01700
    Location:26280
    PNPH; purine nucleoside phosphorylase I, inosine and guanosine-specific

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000080.7 Reference GRCm39 C57BL/6J

    Range
    51181760..51190869
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)