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PNP Gene

protein-coding   GIFtS: 67
GCID: GC14P021021

Purine Nucleoside Phosphorylase

(Previous name: nucleoside phosphorylase)
(Previous symbol: NP)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Purine Nucleoside Phosphorylase1 2     HEL-S-156an2
NP1 2 3 5     PRO18372
Inosine Phosphorylase2 3     PUNP2
Inosine-Guanosine Phosphorylase2 3     Epididymis Secretory Sperm Binding Protein Li 156an2
EC 2.4.2.13 8     Purine-Nucleoside:Orthophosphate Ribosyltransferase2
Nucleoside Phosphorylase1     

External Ids:    HGNC: 78921   Entrez Gene: 48602   Ensembl: ENSG000001988057   OMIM: 1640505   UniProtKB: P004913   

Export aliases for PNP gene to outside databases

Previous GC identifers: GC14P020008 GC14P001059


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PNP Gene:
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)

GeneCards Summary for PNP Gene:
PNP (purine nucleoside phosphorylase) is a protein-coding gene. Diseases associated with PNP include pedophilia, and thoracic outlet syndrome. GO annotations related to this gene include drug binding and nucleoside binding.

UniProtKB/Swiss-Prot: PNPH_HUMAN, P00491
Function: The purine nucleoside phosphorylases catalyze the phosphorolytic breakdown of the N-glycosidic bond in
the beta-(deoxy)ribonucleoside molecules, with the formation of the corresponding free purine bases and
pentose-1-phosphate

Gene Wiki entry for PNP (Purine nucleoside phosphorylase) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000014.9  NC_018925.2  NT_026437.13  
Regulatory elements:
   Search for regulatory transcription factor binding sites for PNP
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPNP promoter sequence
   Search Chromatin IP Primers for PNP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PNP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q13.1   Ensembl cytogenetic band:  14q11.2   HGNC cytogenetic band: 14q11.2

PNP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PNP gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P021021:  view genomic region     (about GC identifiers)

Start:
20,937,113 bp from pter      End:
20,946,165 bp from pter
Size:
9,053 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PNPH_HUMAN, P00491 (See protein sequence)
Recommended Name: Purine nucleoside phosphorylase  
Size: 289 amino acids; 32118 Da
Subunit: Homotrimer
Selected PDB 3D structures from and Proteopedia for PNP (see all 34):
1M73 (3D)        1PF7 (3D)        1PWY (3D)        1RCT (3D)        1RFG (3D)        1RR6 (3D)    
Secondary accessions: B2R8S5 D3DS00 Q15160 Q5PZ03

Explore the universe of human proteins at neXtProt for PNP: NX_P00491

Explore proteomics data for PNP at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys22, Lys95, Lys179, Lys211
  • Modification sites at PhosphoSitePlus
  • 4 DME Specific Peptides for PNP (P00491)
     KVTFPVRV  VVTNAAGGLN  RFPAMSDAYDR  DAVGMSTVPEVIVA 


    See PNP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000261.2  
    ENSEMBL proteins: 
     ENSP00000450663   ENSP00000354532   ENSP00000452421   ENSP00000451108  
    Reactome Protein details: P00491

    PNP Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for PNP (Purine Nucleoside Phosphorylase/PNP)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for PNP
    OriGene Protein Over-expression Lysate for PNP
    OriGene MassSpec for PNP
    OriGene Custom Protein Services for PNP
    GenScript Custom Purified and Recombinant Proteins Services for PNP
    Novus Biologicals PNP Proteins
    Novus Biologicals PNP Lysate
    Sino Biological Recombinant Protein for PNP
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for PNP
    Browse Proteins at Cloud-Clone Corp.

    PNP Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for PNP (Purine Nucleoside Phosphorylase/PNP)
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    Novus Biologicals PNP Antibodies
    Search for Antibodies for PNP at Abcam
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for PNP
    LSBio Antibodies in human, mouse, rat for PNP

    PNP Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for PNP
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR018099 Purine_phosphorylase-2_CS
     IPR001369 PNP/MTAP
     IPR000845 Nucleoside_phosphorylase_d
     IPR011270 Pur_Nuc_Pase_Ino/Guo-sp
     IPR011268 Purine_phosphorylase

    Graphical View of Domain Structure for InterPro Entry P00491

    ProtoNet protein and cluster: P00491

    1 Blocks protein domain: IPB001369 Purine (and other) phosphorylase

    UniProtKB/Swiss-Prot: PNPH_HUMAN, P00491
    Similarity: Belongs to the PNP/MTAP phosphorylase family


    PNP for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PNPH_HUMAN, P00491
    Function: The purine nucleoside phosphorylases catalyze the phosphorolytic breakdown of the N-glycosidic bond in
    the beta-(deoxy)ribonucleoside molecules, with the formation of the corresponding free purine bases and
    pentose-1-phosphate
    Catalytic activity: Purine nucleoside + phosphate = purine + alpha-D-ribose 1-phosphate

         Enzyme Number (IUBMB): EC 2.4.2.11 2

         Gene Ontology (GO): 6 molecular function terms (see first 5):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001882nucleoside binding IDA9305962
    GO:0002060purine nucleobase binding IDA9305962
    GO:0003824catalytic activity ----
    GO:0004731purine-nucleoside phosphorylase activity IDA16930574
    GO:0008144drug binding IDA18938130
    GO:0042301phosphate ion binding IDA18938130
         
    PNP for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PNP:
     Decreased number of cells in m 

         6 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Pnp):
     cellular  hematopoietic system  homeostasis/metabolism  immune system  mortality/aging 
     renal/urinary system 

    PNP for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Pnptm1Cmr for PNP

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PNP
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PNP

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PNP
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PNP

    miRNA
    Products:
        
    miRTarBase miRNAs that target PNP:
    hsa-mir-1296-5p (MIRT036138), hsa-mir-133a-3p (MIRT006571), hsa-mir-16-5p (MIRT031731), hsa-mir-196a-5p (MIRT026040), hsa-mir-186-5p (MIRT021132), hsa-mir-1 (MIRT003765), hsa-mir-124-3p (MIRT022705)

    Block miRNA regulation of human, mouse, rat PNP using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PNP (see all 12):
    hsa-miR-3194-5p hsa-miR-206 hsa-miR-185* hsa-miR-4251 hsa-miR-202 hsa-miR-1 hsa-miR-4267 hsa-miR-3926
    SwitchGear 3'UTR luciferase reporter plasmidPNP 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PNP
    Predesigned siRNA for gene silencing in human, mouse, rat PNP

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PNP

    Clone
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    OriGene clones in human, mouse for PNP (see all 8)
    OriGene ORF clones in mouse, rat for PNP
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PNP (NM_000270)
    Sino Biological Human cDNA Clone for PNP
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PNP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PNP

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for PNP 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PNP


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PNPH_HUMAN, P00491: Cytoplasm, cytoskeleton (By similarity). Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    cytoskeleton2
    mitochondrion2
    nucleus2
    extracellular1
    plasma membrane1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IDA15047506
    GO:0005737cytoplasm IDA16930574
    GO:0005829cytosol TAS--
    GO:0005856cytoskeleton IEA--
    GO:0070062extracellular vesicular exosome IDA19056867

    PNP for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PNP About   (see all 6)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Purine metabolism (REACTOME)
    Purine metabolism0.42
    Purine salvage0.00
    Metabolism of nucleotides0.42
    urate biosynthesis/inosine 5-phosphate degradation0.00
    adenine and adenosine salvage III0.00
    guanine and guanosine salvage0.00
    purine nucleotides degradation0.00
    guanosine nucleotides degradation0.00
    2Purine metabolism (KEGG)
    Purine metabolism0.38
    ATP ITP metabolism0.31
    Pyrimidine metabolism0.38
    3Nicotinate and nicotinamide metabolism
    Nicotinate and nicotinamide metabolism0.43
    NAD metabolism0.43
    4Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    5purine nucleotide salvage
    purine nucleotide salvage0.78

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 GeneGo (Thomson Reuters) Pathways for PNP
        NAD metabolism
    ATP/ITP metabolism

    Selected BioSystems Pathways for PNP (see all 9)
        arsenate detoxification I (glutaredoxin)
    guanosine nucleotides degradation
    adenine and adenosine salvage III
    purine nucleotide salvage
    adenosine nucleotides degradation


    2 Reactome Pathways for PNP
        Purine salvage
    Purine catabolism


    4 Kegg Pathways  (Kegg details for PNP):
        Purine metabolism
    Pyrimidine metabolism
    Nicotinate and nicotinamide metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: PNPH_HUMAN, P00491
    Pathway: Purine metabolism; purine nucleoside salvage


    PNP for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PNP
    Interactions:

        Search GeneGlobe Interaction Network for PNP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PNP (P004912, 3 ENSP000003545324) via UniProtKB, MINT, STRING, and/or I2D (see all 64)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    APLP1P516932, 3MINT-63336 I2D: score=5 
    CCDC90BQ9GZT62, 3MINT-63337 I2D: score=5 
    TP53P046372, 3MINT-63335 I2D: score=5 
    ZHX1Q9UKY12, 3MINT-63340 I2D: score=5 
    LRIF1Q5T3J32, 3MINT-63338 I2D: score=4 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006139nucleobase-containing compound metabolic process IDA3029074
    GO:0006144purine nucleobase metabolic process TAS--
    GO:0006148inosine catabolic process IDA16964310
    GO:0006195purine nucleotide catabolic process TAS--
    GO:0006738nicotinamide riboside catabolic process IDA19001417

    PNP for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PNP (PNPH)

    Selected HMDB Compounds for PNP (see all 23)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenine1,6-Dihydro-6-iminopurine (see all 19)73-24-5--
    Adenosine1-(6-amino-9H-purin-9-yl)-1-deoxy-beta-D-Ribofuranose (see all 32)58-61-7--
    Deoxyadenosine1-(6-amino-9H-purin-9-yl)-1,2-dideoxy-b-D-Ribofuranose (see all 22)958-09-8--
    Deoxyadenosine monophosphate2'-Deoxy-5'-adenylate (see all 24)653-63-4--
    Deoxyguanosine2'-Deoxyguanosine (see all 11)961-07-9--
    Deoxyinosine2'-Deoxyinosine (see all 10)890-38-0--
    Deoxyribose 1-phosphate2-deoxy-D-ribose-1-phosphate (see all 14)17210-42-3--
    Deoxyuridine1-(2-Deoxy-D-erythro-pentofuranosyl)uracil (see all 12)951-78-0--
    GuanineGUN (see all 26)73-40-5--
    Guanosine2-Amino-1,9-dihydro-9-b-D-ribofuranosyl-6H-purin-6-one (see all 10)118-00-3--

    Selected DrugBank Compounds for PNP (see all 19)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Cladribine2-CdA (see all 5)4291-63-8targetinducer6808516 3260648 10444166 10500836 8521855
    2,6-Diamino-(S)-9-[2-(Phosphonomethoxy)Propyl]Purine-- --target--17139284 17016423 10592235
    2-Amino-7-[2-(2-Hydroxy-1-Hydroxymethyl-Ethylamino)-Ethyl]-1,7-Dihydro-Purin-6-One-- --target--17139284 17016423 10592235
    9-(5,5-Difluoro-5-Phosphonopentyl)Guanine-- --target--17139284 17016423 10592235
    9-Deazainosine-- 89458-19-5target--17139284 17016423 10592235
    Hypoxanthine-- 68-94-0target--17139284 17016423 10592235
    Ribose-1-Phosphate-- --target--17139284 17016423 10592235
    3-Deoxyguanosine-- --target--17139284 17016423
    4'-Deaza-1'-Aza-2'-Deoxy-1'-(9-Methylene)-Immucillin-H, (3r,4r)-N-[9-Deazahypoxanthin-9-Yl)Methyl]-4-Hydroxymethyl-Pyrrolidin-3-Ol-- --target--17139284 17016423
    8-azaguanineAzaguanine (see all 5)134-58-7target--17139284 17016423

    Selected Novoseek inferred chemical compound relationships for PNP gene (see all 102)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    purine nucleoside 99.3 962 9628722 (5), 8432666 (4), 12018991 (4), 7779212 (4) (see all 99)
    9-deazaguanine 93.5 16 18066911 (2), 17544667 (1), 1789255 (1), 8515423 (1) (see all 6)
    ribose 1-phosphate 92.2 31 16771490 (2), 19172318 (1), 19778725 (1), 9305963 (1) (see all 13)
    mesg 91.9 10 1445214 (1), 8954523 (1), 10395483 (1), 7659511 (1) (see all 7)
    6-methylpurine 2'-deoxyriboside 91.1 8 9322865 (1), 15028961 (1), 18407409 (1), 16305530 (1)
    5'-methylthioinosine 90.7 2 15961383 (1), 15576366 (1)
    9-(5,5-difluoro-5-phosphonopentyl)guanine 90.1 27 16263289 (1), 17544667 (1), 18029771 (1), 15272165 (1) (see all 5)
    purine 89.8 163 9585525 (4), 12429535 (2), 7614469 (2), 15817485 (2) (see all 74)
    inosine 89.5 71 19478237 (3), 8241176 (2), 11707439 (2), 12730608 (2) (see all 35)
    7-methyl-6-thio-guanosine 86.4 4 16154528 (2), 7810877 (1), 7785781 (1)



    PNP for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

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    REFSEQ mRNAs for PNP gene: 
    NM_000270.3  

    Unigene Cluster for PNP:

    Purine nucleoside phosphorylase
    Hs.75514  [show with all ESTs]
    Unigene Representative Sequence: AK126154
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000553418 ENST00000361505(uc001vxo.4) ENST00000556293(uc010ahm.2)
    ENST00000557229(uc010ahn.3) ENST00000554056 ENST00000553591 ENST00000554065
    ENST00000556754(uc021rns.1)
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat PNP using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PNP (see all 12):
    hsa-miR-3194-5p hsa-miR-206 hsa-miR-185* hsa-miR-4251 hsa-miR-202 hsa-miR-1 hsa-miR-4267 hsa-miR-3926
    SwitchGear 3'UTR luciferase reporter plasmidPNP 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for PNP
    Predesigned siRNA for gene silencing in human, mouse, rat PNP
    Clone
    Products:
         
    OriGene clones in human, mouse for PNP (see all 8)
    OriGene ORF clones in mouse, rat for PNP
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PNP (NM_000270)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PNP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PNP
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for PNP
    OriGene qSTAR qPCR primer pairs in human, mouse for PNP
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PNP
      QuantiTect SYBR Green Assays in human, mouse, rat PNP
      QuantiFast Probe-based Assays in human, mouse, rat PNP

    Additional mRNA sequence: 

    AK098544.1 AK126154.1 AK307340.1 AK307364.1 AK313490.1 BC104206.1 BC104207.1 BC106074.1 
    CR407607.1 X00737.1 

    17 DOTS entries:

    DT.95354047  DT.100637431  DT.119477  DT.95315045  DT.95358448  DT.95156884  DT.100887960  DT.119476 
    DT.95314017  DT.100643362  DT.120778482  DT.120778505  DT.120778508  DT.120778518  DT.99939499  DT.100037476 
    DT.92446924 

    Selected AceView cDNA sequences (see all 517):

    CD370020 AI377116 CR598982 AA156105 CR599285 BI517586 BM755821 CR608191 
    CR601413 CB130582 CR612303 AW250171 BM838995 CB110064 CR598701 BQ439104 
    CA309749 N41854 BM827103 BQ882148 CA312737 AW403290 CR604278 AK098544 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    PNP expression in normal human tissues (normalized intensities)      PNP embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCCTCTGTC
    PNP Expression
    About this image


    PNP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Thymus (Hematopoietic System)
             Thymus
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Liver (Hepatobiliary System)
             Liver Lobule
    PNP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PNP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.75514

    UniProtKB/Swiss-Prot: PNPH_HUMAN, P00491
    Tissue specificity: Expressed in red blood cells; overexpressed in red blood cells (cytoplasm) of patients with
    hereditary non-spherocytic hemolytic anemia of unknown etiology

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PNP gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pnp1 , 5 purine-nucleoside phosphorylase1, 5 84.2(n)1
    84.43(a)1
      14 (26.31 cM)5
    189501  NM_013632.41  NP_038660.11 
     509443025 
    chicken
    (Gallus gallus)
    Aves PNP1 purine nucleoside phosphorylase 62.32(n)
    61.96(a)
      769958  XM_003641902.2  XP_003641950.2 
    lizard
    (Anolis carolinensis)
    Reptilia PNP6
    purine nucleoside phosphorylase
    68(a)
    1 ↔ 1
    GL343220.1(1237094-1262614)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC047264.12   -- 72.41(n)    BC047264.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc27g062 Transcribed sequence with weak similarity to protein more 71.49(n)    CK028042.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG167581 CG16758 55.36(n)
    51.24(a)
      38315  NM_001274401.1  NP_001261330.1 
    worm
    (Caenorhabditis elegans)
    Secernentea K02D7.11 K02D7.1 50.19(n)
    47.49(a)
      176851  NM_067499.7  NP_499900.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PNP1(YLR209C)4
    PNP11
    Purine nucleoside phosphorylase, specifically metabolizes more4
    PNP11
    54.81(n)1
    52.43(a)1
      12(561732-560797)4
    8509061, 4  NP_013310.11, 4 


    ENSEMBL Gene Tree for PNP (if available)
    TreeFam Gene Tree for PNP (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PNP gene

    PNP for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for PNP
    PGOHUM00000240104


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PNP (see all 307)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0022454
    Purine nucleoside phosphorylase deficiency (PNPD)4--see VAR_0022452 D G mis40--------
    VAR_0022474
    Purine nucleoside phosphorylase deficiency (PNPD)4--see VAR_0022472 R P mis40--------
    VAR_0022464
    Purine nucleoside phosphorylase deficiency (PNPD)4--see VAR_0022462 A P mis40--------
    VAR_0022444
    Purine nucleoside phosphorylase deficiency (PNPD)4--see VAR_0022442 E K mis40--------
    VAR_0106534
    Purine nucleoside phosphorylase deficiency (PNPD)4--see VAR_0106532 Y C mis40--------
    rs10495641,2,,4
    C,F,A,Hnon-pathogenic11939711(-) TTCACC/TGTAGT 2 S G mis129Minor allele frequency- T:0.21NA EU NS EA WA CSA 8505
    rs1048944551,2
    Cpathogenic11939630(+) AGCACC/TGACCT 2 R * stg10--------
    rs1048944601,2
    Cpathogenic11939732(+) TTCCCC/TGAAGT 2 R * stg10--------
    rs1048944531,2
    Cpathogenic11941820(+) TGTATA/GAAGGG 2 K E mis10--------
    rs1048944501,2
    Cpathogenic11942135(+) TGGAGA/GTATCA 2 D G mis10--------

    HapMap Linkage Disequilibrium report for PNP (20937113 - 20946165 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for PNP:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv23438CNV Gain+Loss19812545

    Human Gene Mutation Database (HGMD): PNP
    Locus Specific Mutation Databases (LSDB): PNP

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 164050   
    OMIM disorders: 613179  
    UniProtKB/Swiss-Prot: PNPH_HUMAN, P00491
  • Purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179]: A disorder that interrupts both the
    catabolism of inosine into hypoxanthine and guanosine into guanine, and leads to the accumulation of guanosine,
    inosine, and their deoxified by-products. The main clinical presentation is recurrent infections due to severe
    T-cell immunodeficiency. Some patients also have neurologic impairment. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • Selected diseases for PNP (see all 63):    About MalaCards
    pedophilia    thoracic outlet syndrome    purine nucleoside phosphorylase deficiency    immunodeficiency due to purine nucleoside phosphorylase deficiency
    adenosine deaminase deficiency    exhibitionism    lesch-nyhan syndrome    lymphopenia
    progressive multifocal leukoencephalopathy    t lymphocyte deficiency    molybdenum cofactor deficiency    primary immunodeficiency disease
    gout    cutaneous leishmaniasis    severe combined immunodeficiency    common variable immunodeficiency
    schistosomiasis    cockayne syndrome    leishmaniasis    hematopoietic stem cell transplantation

    5 diseases from the University of Copenhagen DISEASES database for PNP:
    Primary immunodeficiency disease     Schizophrenia     Lesch-Nyhan syndrome     Pedophilia
    Leukemia

    PNP for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for PNP gene (see all 52)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adenosine deaminase deficiency 74.3 5 9605997 (2), 16176880 (1), 1696525 (1), 1988230 (1)
    hypouricemia 59.7 6 8976110 (1), 8673045 (1), 1929018 (1), 8665699 (1)
    severe combined immunodeficiency 56.7 18 8931706 (2), 1560016 (2), 1384322 (1), 8976114 (1) (see all 9)
    molybdenum cofactor deficiency 52 1 10759467 (1)
    lesch-nyhan syndrome 50.4 1 8976090 (1)
    immunodeficiency 47.8 47 19733163 (3), 20210752 (2), 7918681 (1), 17641261 (1) (see all 31)
    leukemia t-cell 43.4 7 1573639 (1), 15299840 (1), 8592572 (1), 9403342 (1) (see all 5)
    t-all 41.3 2 18086346 (1), 18086344 (1)
    lymphopenia 39.1 9 15571269 (1), 18086347 (1), 16131572 (1), 16778146 (1) (see all 5)
    developmental delay 37.6 8 19733163 (1), 11902746 (1), 17910661 (1), 15520787 (1) (see all 6)

    Human Genome Epidemiology (HuGE) Navigator: PNP (15 documents)

    Export disorders for PNP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PNP gene, integrated from 10 sources (see all 464):
    (articles sorted by number of sources associating them with PNP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human purine nucleoside phosphorylase cDNA sequence and genomic clone characterization. (PubMed id 6087295)1, 2, 3 Williams S.R.... Martin D.W. Jr. (Nucleic Acids Res. 1984)
    2. Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency. (PubMed id 1384322)1, 2, 9 Aust M.R....Markert M.L. (Am. J. Hum. Genet. 1992)
    3. Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient. (PubMed id 8931706)1, 2, 9 Pannicke U.... Schwarz K. (Hum. Genet. 1996)
    4. Genetic variation in genes associated with arsenic metabolism: glutathione S-transferase omega 1-1 and purine nucleoside phosphorylase polymorphisms in European and indigenous Americans. (PubMed id 12928150)1, 2, 9 Yu L.... Klimecki W.T. (Environ. Health Perspect. 2003)
    5. Three-dimensional structure of human erythrocytic purine nucleoside phosphorylase at 3.2-A resolution. (PubMed id 2104852)1, 2, 9 Ealick S.E.... Bugg C.E. (J. Biol. Chem. 1990)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. A human purine nucleoside phosphorylase deficiency caused by a single base change. (PubMed id 3029074)1, 2 Williams S.R.... Martin D.W. Jr. (J. Biol. Chem. 1987)
    9. Purine nucleoside phosphorylase deficiency. (PubMed id 1931007)1, 9 Markert M.L. (Immunodefic Rev 1991)
    10. Intracellular delivery of purine nucleoside phosphorylase (PNP) fused to protein transduction domain corrects PNP deficiency in vitro. (PubMed id 16930574)1, 9 Toro A....Grunebaum E. (Cell. Immunol. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4860 HGNC: 7892 AceView: NP Ensembl:ENSG00000198805 euGenes: HUgn4860
    ECgene: PNP Kegg: 4860 H-InvDB: PNP

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PNP Pharmacogenomics, SNPs, Pathways
    NPbasehttp://bioinf.uta.fi/NPbase/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=NP[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PNP gene:
    Search GeneIP for patents involving PNP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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