U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    PNP purine nucleoside phosphorylase [ Homo sapiens (human) ]

    Gene ID: 4860, updated on 5-May-2024

    Summary

    Official Symbol
    PNPprovided by HGNC
    Official Full Name
    purine nucleoside phosphorylaseprovided by HGNC
    Primary source
    HGNC:HGNC:7892
    See related
    Ensembl:ENSG00000198805 MIM:164050; AllianceGenome:HGNC:7892
    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]
    Expression
    Broad expression in bone marrow (RPKM 94.2), kidney (RPKM 44.4) and 18 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PNP in Genome Data Viewer
    Location:
    14q11.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (20469406..20477089)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (14666309..14673992)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (20937565..20945248)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene OSGEP/APEX1 bi-directional promoter region Neighboring gene O-sialoglycoprotein endopeptidase Neighboring gene Sharpr-MPRA regulatory region 9617 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:20928913-20929879 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:20929880-20930845 Neighboring gene apurinic/apyrimidinic endodeoxyribonuclease 1 Neighboring gene phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:20937332-20937836 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8078 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8079 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:20945841-20946029 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8080 Neighboring gene ribonuclease A family member 10 (inactive) Neighboring gene pentatricopeptide repeat domain 2 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

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

    EBI GWAS Catalog

    Description
    Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables guanosine phosphorylase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables nucleoside binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphate ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables purine nucleobase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 
    Process Evidence Code Pubs
    involved_in IMP catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in allantoin metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in dAMP catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in deoxyadenosine catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in deoxyinosine catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within inosine catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in inosine catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in nicotinamide riboside catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in nucleobase-containing compound metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in nucleotide biosynthetic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of T cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of alpha-beta T cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of interleukin-2 production 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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to xenobiotic stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within urate biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in ficolin-1-rich granule lumen TAS
    Traceable Author Statement
    more info
     
    located_in secretory granule lumen TAS
    Traceable Author Statement
    more info
     

    General protein information

    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

    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.

    Genomic

    1. NG_009631.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_000270.4NP_000261.2  purine nucleoside phosphorylase

      See identical proteins and their annotated locations for NP_000261.2

      Status: REVIEWED

      Source sequence(s)
      BC106074
      Consensus CDS
      CCDS9552.1
      UniProtKB/Swiss-Prot
      B2R8S5, D3DS00, P00491, Q15160, Q5PZ03
      UniProtKB/TrEMBL
      Q8N7G1, V9HWH6
      Related
      ENSP00000354532.6, ENST00000361505.10
      Conserved Domains (1) summary
      TIGR01700
      Location:26280
      PNPH; purine nucleoside phosphorylase I, inosine and guanosine-specific

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      20469406..20477089
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791796.1 Reference GRCh38.p14 PATCHES

      Range
      672087..679770
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      14666309..14673992
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)