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    PNP purine nucleoside phosphorylase [ Homo sapiens (human) ]

    Gene ID: 4860, updated on 9-Apr-2017
    Official Symbol
    PNPprovided by HGNC
    Official Full Name
    purine nucleoside phosphorylaseprovided by HGNC
    Primary source
    HGNC:HGNC:7892
    See related
    Ensembl:ENSG00000198805 MIM:164050; Vega:OTTHUMG00000029546
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NP; PUNP; PRO1837
    Summary
    This gene encodes an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. The enzyme is trimeric, containing three identical subunits. Mutations which result in nucleoside phosphorylase deficiency result in defective T-cell (cell-mediated) immunity but can also affect B-cell immunity and antibody responses. Neurologic disorders may also be apparent in patients with immune defects. A known polymorphism at aa position 51 that does not affect enzyme activity has been described. A pseudogene has been identified on chromosome 2. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    14q11.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 14 NC_000014.9 (20469379..20478006)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (20937538..20946165)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene apurinic/apyrimidinic endodeoxyribonuclease 1 Neighboring gene transmembrane protein 55B Neighboring gene ribonuclease A family member 10 (inactive) Neighboring gene pentatricopeptide repeat domain 2 pseudogene 1

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Purine-nucleoside phosphorylase deficiency
    MedGen: C0268125 OMIM: 613179 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ94043, FLJ97288, FLJ97312, MGC117396, MGC125915, MGC125916

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    drug binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoside binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphate ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    purine nucleobase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    purine-nucleoside phosphorylase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    purine-nucleoside phosphorylase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    NAD biosynthesis via nicotinamide riboside salvage pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    inosine catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    interleukin-2 secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    nicotinamide riboside catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleobase-containing compound metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of T cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of alpha-beta T cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    purine nucleotide catabolic process TAS
    Traceable Author Statement
    more info
     
    purine-containing compound salvage TAS
    Traceable Author Statement
    more info
     
    response to drug IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to drug IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    urate biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    ficolin-1-rich granule lumen TAS
    Traceable Author Statement
    more info
     
    intracellular IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    secretory granule lumen TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    purine nucleoside phosphorylase
    Names
    HEL-S-156an
    epididymis secretory sperm binding protein Li 156an
    inosine phosphorylase
    inosine-guanosine phosphorylase
    purine-nucleoside:orthophosphate ribosyltransferase
    NP_000261.2

    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.

    Genomic

    1. NG_009631.1 RefSeqGene

      Range
      4997..13624
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_91

    mRNA and Protein(s)

    1. NM_000270.3NP_000261.2  purine nucleoside phosphorylase

      See identical proteins and their annotated locations for NP_000261.2

      Status: REVIEWED

      Source sequence(s)
      AL355075, BC106074, BM193354, BU622706
      Consensus CDS
      CCDS9552.1
      UniProtKB/Swiss-Prot
      P00491
      UniProtKB/TrEMBL
      V9HWH6
      Related
      ENSP00000354532.5, OTTHUMP00000163992, ENST00000361505.9, OTTHUMT00000073646
      Conserved Domains (2) summary
      COG0005
      Location:12282
      XapA; Purine nucleoside phosphorylase [Nucleotide transport and metabolism]
      TIGR01700
      Location:26280
      PNPH; purine nucleoside phosphorylase I, inosine and guanosine-specific

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p7 Primary Assembly

      Range
      20469379..20478006
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018925.2 Alternate CHM1_1.1

      Range
      20938918..20947545
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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