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

    Gene ID: 18950, updated on 27-Nov-2024

    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 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). [provided by Alliance of Genome Resources, Nov 2024]
    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
    RS_2024_02 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 STARR-seq mESC enhancer starr_36659 Neighboring gene apurinic/apyrimidinic endonuclease 1 Neighboring gene phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 Neighboring gene STARR-positive B cell enhancer ABC_E7308 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

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    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 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
     
    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 
    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
     
    involved_in 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 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 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
     
    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
     

    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)

    NEW Try the new Transcript table

    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, Q4FJT6
      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: GCF_000001635.27-RS_2024_02

    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)