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PNP Gene

protein-coding   GIFtS: 67
GCID: GC14P021021

Purine Nucleoside Phosphorylase

(Previous name: nucleoside phosphorylase)
(Previous symbol: NP)
  See PNP-related diseases
at  

(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 purine nucleoside phosphorylase deficiency. 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 at NCBI GenBank:
NC_000014.8  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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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.

     
    Search eBioscience for Proteins for PNP 

     
    antibodies-online proteins for PNP (14 products) 

     
    antibodies-online peptides for PNP

    PNP Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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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
    antibodies-online antibodies for PNP (27 products) 

    PNP Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for PNP 
    antibodies-online kits for PNP (17 products) 


    (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


    Find genes that share domains with PNP           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, 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): Selected molecular function terms (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
         
    Find genes that share ontologies with PNP           About GenesLikeMe


    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 

    Find genes that share phenotypes with PNP           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Pnptm1Cmr for PNP

       genOway: Develop your customized and physiologically relevant rodent model 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 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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    GenScript Custom overexpressing Cell Line Services for PNP
    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

    Find genes that share ontologies with PNP           About GenesLikeMe


    (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


    Find genes that share SuperPaths with PNP           About GenesLikeMe

    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

        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

    Find genes that share ontologies with PNP           About GenesLikeMe



    (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)



    Find genes that share compounds with PNP           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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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)
    miRNA
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    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
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    OriGene RNAi products in human, mouse, rat for PNP
    Predesigned siRNA for gene silencing in human, mouse, rat 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)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PNP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PNP
    Primer
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    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 

    517 AceView cDNA sequences (see top 24):

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

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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

    Find genes that share paralogs with PNP           About GenesLikeMe


    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
    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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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

  • 13 diseases for PNP:    
    About MalaCards
    pedophilia    purine nucleoside phosphorylase deficiency    immunodeficiency due to purine nucleoside phosphorylase deficiency    adenosine deaminase deficiency
    mandibuloacral dysplasia with type a lipodystrophy    lesch-nyhan syndrome    progressive multifocal leukoencephalopathy    lymphopenia
    primary immunodeficiency disease    mandibuloacral dysplasia    molybdenum cofactor deficiency    gout
    malaria

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

    Find genes that share disorders with PNP           About GenesLikeMe

    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)
    About This Section

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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)
    About This Section

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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)
    About This Section

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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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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      Search eBioscience for elisas for PNP
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for PNP
     antibodies-online antibodies for PNP (27 products)
     antibodies-online kits for PNP (17 products)
     antibodies-online peptides for PNP
     antibodies-online proteins for PNP (14 products)
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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