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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PNP Gene

protein-coding   GIFtS: 68
GCID: GC14P021021

Purine Nucleoside Phosphorylase

(Previous name: nucleoside phosphorylase)
(Previous symbol: NP)
Microbiology & Infectious Diseases Congress
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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)
About This Section

Aliases
Purine Nucleoside Phosphorylase1 2     Nucleoside Phosphorylase1
NP1 2 3 5     PRO18372
Inosine Phosphorylase2 3     PUNP2
Inosine-Guanosine Phosphorylase2 3     Purine-Nucleoside:Orthophosphate Ribosyltransferase2
EC 2.4.2.13 8     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 purine nucleoside phosphorylase deficiency, and pedophilia, and among its related super-pathways are Purine metabolism and NAD metabolism. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.2  NT_026437.12  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for PNP
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PNPH_HUMAN, P00491 (See protein sequence)
Recommended Name: Purine nucleoside phosphorylase  
Size: 289 amino acids; 32118 Da
Subunit: Homotrimer
Subcellular location: Cytoplasm, cytoskeleton (By similarity). Cytoplasm
6/34 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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P00491

  • 4 DME Specific Peptides for PNP (P00491)
     KVTFPVRV  VVTNAAGGLN  RFPAMSDAYDR  DAVGMSTVPEVIVA 

    PNP Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PNP Protein Expression
    REFSEQ proteins: NP_000261.2  
    ENSEMBL proteins: 
     ENSP00000450663   ENSP00000354532   ENSP00000452421   ENSP00000451108  
    Reactome Protein details: P00491
    Human Recombinant Protein Products for PNP: 
    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. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IDA15047506
    GO:0005737cytoplasm IDA16930574
    GO:0005829cytosol TAS--
    GO:0005856cytoskeleton IEA--

    PNP for ontologies           About GeneDecksing



    PNP Antibody Products: 
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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    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
         
    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 - Custom generated mouse model solutions for PNP 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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-1 (MIRT003765)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PNP
    8/12 QIAGEN miScript miRNA 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:
        
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    Clone
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    OriGene ORF clones in mouse, rat for PNP
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    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
    Sirion Biotech Customized lentivirus for stable overexpression of PNP 
                         Customized lentivirus expression plasmids for stable overexpression of PNP 

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PNP


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PNP About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Purine metabolism
    Purine metabolism0.38
    ATP/ITP metabolism0.31
    Pyrimidine metabolism0.38
    2NAD metabolism
    NAD metabolism0.43
    Nicotinate and nicotinamide metabolism0.43
    3Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    4adenine and adenosine salvage III
    purine ribonucleosides degradation to ribose-1-phosphate0.75
    guanine and guanosine salvage I0.50
    adenine and adenosine salvage III0.75
    arsenate detoxification I (glutaredoxin)0.33
    xanthine and xanthosine salvage0.50
    guanosine nucleotides degradation III0.33
    5Purine metabolism
    Purine metabolism0.42
    Purine salvage0.39
    Metabolism of nucleotides0.42
    Purine catabolism0.30

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for PNP
        NAD metabolism
    ATP/ITP metabolism


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

    5/9 BioSystems Pathways for PNP (see all 9)
        arsenate detoxification I (glutaredoxin)
    adenine and adenosine salvage III
    adenosine nucleotides degradation II
    purine ribonucleosides degradation to ribose-1-phosphate
    guanosine nucleotides degradation III


    5        Reactome Pathways for PNP
        Metabolism of nucleotides
    Metabolism
    Purine salvage
    Purine catabolism
    Purine metabolism


    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

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PNP

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

    5/57 Interacting proteins for PNP (P004912, 3 ENSP000003545324) via UniProtKB, MINT, STRING, and/or I2D (see all 57)

    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): 5/16 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PNP for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PNP (PNPH)

    10/23 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--

    10/19 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

    10/102 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)

    Search CenterWatch for drugs/clinical trials and news about PNP / PNPH

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
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    8/12 QIAGEN miScript miRNA 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
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    Browse for Gene Knock-down Tools from EMD Millipore
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    Clone
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    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
    Sirion Biotech Customized lentivirus for stable overexpression of PNP 
                         Customized lentivirus expression plasmids for stable overexpression of PNP 
    Primer
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    OriGene qPCR primer pairs and template standards for PNP
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    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 

    517 AceView cDNA sequences (see top 24):

    AA541792 BM737669 BM911986 BM788001 AA457308 CR592961 BE260453 BU622706 
    N69225 AI674743 BQ423245 CR608316 CR606974 CB151915 CR601251 AA156105 
    CA432742 CA312737 CR598982 BM827103 BE741189 BM789250 BM757340 CR594642 
    T51257 CR612303 BM838995 AA194872 BE870650 BM755821 CR599285 BQ000007 
    AW250171 AI140048 CB109334 CB157308 BI031066 BQ439104 BI517586 CA309749 
    CR601413 AW403290 BG185342 CR598701 CR608198 BM800037 CB110064 BI907872 
    BQ084073 BF435277 CR604278 CR608191 BM790325 BE741350 CR624654 BX445325 
    BG025737 CA441628 BQ448150 AI096488 AI597614 AI459856 BM737760 BF725924 
    CR614792 AK098544 CR612939 CR598851 N90434 CB108486 CB151616 BM770880 
    BM826250 BF436217 T27651 CR595160 CD370020 BM999539 BM738452 BE746690 
    BM760755 AW519082 CA448213 N41854 BM738538 BG218158 BM770524 AA582183 
    AI420854 BM825744 CB130582 BQ775108 BG212330 CA308829 AI377116 BM839669 
    CR600826 BX408735 BQ882148 AI885005 CR625788 BM755994 CR604317 W04186 
    CR407607 AI149466 BX388463 AI799146 BU158186 BU929722 BI850588 AA346142 
    BP338539 N70898 AA329050 BX326066 BX462361 CB136385 BX408737 AA953577 
    BF032888 CA453633 BE790672 BG500365 H72411 BU734039 BG314773 N63851 
    BU663456 AK126154 AI675927 BQ672037 BX355108 CB106641 AI299941 BQ052678 
    BM543422 BM556907 BE270964 AW571872 BE547302 BG178995 BX407854 BX326335 
    BE793312 AI818832 AI452544 BM739672 BV203840 BX423754 BX343320 N54354 
    BQ937960 CB113273 BM012113 BQ668405 BM745439 BM557645 BU838357 BM737957 
    AA724143 AV651235 CA431662 BM752113 CB242963 CA391915 AU142621 T95122 
    BE047457 T95231 BP363487 BP381951 AW662151 BX458558 BX443964 BM790350 
    BI870472 BX408736 AA430735 AA281952 CF135031 AA724168 BX385689 BF034043 
    BU680214 BM797162 BX417853 BG823961 AA211475 BE382459 BX408161 BF797952 
    AA835040 AA972548 BM558805 AW025156 BM739692 BG231911 BU659337 CA438702 
    BM853067 BX407647 BX381106 BG519658 BI910863 BM790464 BM770299 BG114778 
    BI911854 BX346982 BM796980 BI026701 AA282427 AA345018 AA437095 BU169895 
    AW247252 BQ049596 AW673735 CA489654 BX407542 CB113433 BX376421 BI769645 
    AA311617 BE270796 R66531 BI838046 BM766871 BI765853 BX355156 BG519814 
    AW190879 BM751809 BV203839 BG831409 CF528117 AA348094 BG250637 NM_000270 
    AV719327 X00737 BX357993 BQ683698 BX416982 BE265212 AA975804 BI754988 
    BP381448 BM553975 CD370220 BM743500 AI077604 BU689632 BE260038 CF121294 
    BE797992 AA954388 BP428798 AU126460 BP366746 BX357992 BI198139 BG429168 
    CA446004 BX332601 BG519728 BX422016 BX395487 BG429537 BP370582 AA548276 
    BI517447 BG248425 AI979189 BG203440 BU154425 N71567 BI087530 BX387991 
    BX331431 BX118679 BX429762 BM810785 CA305987 BP376358 BP367991 BQ354693 
    BG032220 BX646735 BI258941 BE266250 CD245524 BP338706 BX367906 BV203838 
    BE311761 BX396379 BX343319 BI763057 AA457307 CB994955 BX388450 AI922219 
    BI752349 BX646734 AI285845 AA890720 H13843 AI828348 AA339985 BI013740 
    R66532 AW467320 BI197180 BM737919 AI873796 H54156 BE538521 H37842 
    BM828789 AW572406 AA301651 AA699667 BX333795 BM836702 AW470496 AA970746 
    BX332600 BG177426 AI204151 H64313 CF139334 BX422509 AI024906 W20095 
    BE397948 BE541645 BE262057 BM193354 AA045090 BI225123 BE537613 AA559099 
    BP381361 BX360218 BE788315 BI521596 BE392764 N70252 AI699770 AW273191 
    BM751556 H64795 BI544562 BM740560 BI225577 CF141515 AV693241 AA373060 
    BX331430 R62962 AA296110 BG430457 AA779925 AA315735 T89068 BX408863 
    AA346143 BM852669 AW129369 N30611 BM423780 AA772669 H16737 CF142138 
    AI873318 CF145429 BM826363 AW511745 BG189028 AI269937 AA913603 BI544395 
    R22404 BM451447 AA381085 R65819 H89728 H13890 BU600442 W86290 
    AV744607 AA376804 BX349474 H81944 BQ350895 BI092512 H82039 AI500697 
    AI708083 AA319496 R99335 BM826906 AA430382 BQ363120 BF129015 AI000814 
    H70385 AI735713 H47239 CD607963 AA296473 W86463 AI961789 CD684654 
    AW469547 AA381079 BG527082 R65918 BM740650 BM843339 AW798022 BI518125 
    R98083 H68427 BG314700 AF116670 BX395486 BU538154 H72853 R89169 
    AI431999 BG987187 BU198637 BP432447 R89070 H60413 BG492274 H82987 
    AI478666 BX416650 AW966160 BX445778 AI133239 R98084 AA279899 AA234760 
    CB991554 BF825208 BX388529 AA694388 AW673101 BI013739 H83220 H37794 
    H47286 AA326750 BE540687 BI522359 N73184 AA731329 BI518037 BX382043 
    N90489 AW247864 BU665295 AI421990 BP428833 BI093788 H64029 BX360700 
    C02447 T47964 R68963 H69719 BF373773 AA045089 AI431420 R63016 
    BF241781 R99427 BI225347 AI336002 AA781606 BE715839 T51373 N91995 
    H16845 W86334 BE715796 BF849468 R22453 BQ334368 BG777910 AU099816 
    AI984717 N76320 BG201880 BE715863 N64444 BX448846 BF360730 BF171886 
    CD298852 BF360781 BF893950 BE715816 BG327741 BI022600 BQ355314 T47963 
    AA627997 BX354447 H53998 N99527 BE398116 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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 
     5/19 selected tissues (see all 19) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
             brain/midbrain   
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Retina
             sensory organ/eye/cornea   
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Metanephros
             visceral organ/metanephros/renal cortex   
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             heart/atrium   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             visceral organ   

    See PNP Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PNP

    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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PNP

    (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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PNP gene from 8/20 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 LOC7699581 purine nucleoside phosphorylase-like 62.04(n)
    60.85(a)
      769958  XM_003641902.1  XP_003641950.1 
    lizard
    (Anolis carolinensis)
    Reptilia PNP6
    --
    Purine nucleoside phosphorylase
    68(a)
    55(a)
    1 ↔ 1
    possible ortholog
    GL343220.1(1237094-1262614)
    GL343346.1(1170034-1180124)
    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_139470.3  NP_647727.2 
    worm
    (Caenorhabditis elegans)
    Secernentea K02D7.11 Protein K02D7.1 50.19(n)
    47.49(a)
      176851  NM_067499.6  NP_499900.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PNP1(YLR209C)4
    PNP11
    Purine nucleoside phosphorylase, specifically metabolizes more4
    Pnp1p1
    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)
    About This Section
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/307 SNPs in PNP are shown (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
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing PNP
    DNA2.0 Custom Variant and Variant Library Synthesis for PNP

    (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.)
    About This Section
    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

  • 20/59 diseases for PNP (see all 59):    About MalaCards
    purine nucleoside phosphorylase deficiency    pedophilia    thoracic outlet syndrome    immunodeficiency due to purine nucleoside phosphorylase deficiency
    adenosine deaminase deficiency    exhibitionism    lymphopenia    lesch-nyhan syndrome
    progressive multifocal leukoencephalopathy    molybdenum cofactor deficiency    t lymphocyte deficiency    gout
    cutaneous leishmaniasis    severe combined immunodeficiency    common variable immunodeficiency    schistosomiasis
    leishmaniasis    metabolic disorders    paraplegia    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:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/52 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)
    About This Section

    PubMed articles for PNP gene, integrated from 9 sources (see all 461):
    (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. (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. (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. (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. (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. (1990)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (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. (1987)
    9. Purine nucleoside phosphorylase deficiency. (PubMed id 1931007)1, 9 Markert M.L. (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. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 4860 HGNC: 7892 AceView: NP Ensembl:ENSG00000198805 euGenes: HUgn4860
    ECgene: PNP Kegg: 4860 H-InvDB: PNP

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PNP Pharmacogenomics, SNPs, Pathways
    NPbasehttp://bioinf.uta.fi/NPbase/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NP

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.
     Search LifeMap BioReagents cell lines for PNP
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PNP
     SwitchGear 3'UTR luciferase reporter plasmids for PNP
     SwitchGear Promoter luciferase reporter plasmids for PNP
     ThermoFisher Antibodies for PNP
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PNP
     inGenious Targeting Laboratory - Custom generated mouse model solutions for PNP
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PNP
    Customized:
     lentivirus for stable overexpression of PNP
     lentivirus expression plasmids for stable overexpression of PNP
     adenovirus for overexpression of PNP
     LSBio Antibodies in human, mouse, rat for PNP
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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