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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)
 Explore 68 diseases affiliated with
PNP via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PNP    

Aliases
for PNP gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Purine Nucleoside Phosphorylase1 2     EC 2.4.2.13 8
NP1 2 3 5     Nucleoside Phosphorylase1
PUNP1 2     PRO18372
Inosine Phosphorylase2 3     Purine-Nucleoside:Orthophosphate Ribosyltransferase2
Inosine-Guanosine Phosphorylase2 3     

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


Summaries
for PNP gene

(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:
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)

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)


Genomic Views
for PNP 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for PNP
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PNP 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

Proteins
for PNP gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P00491

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

    PNP Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000261.2  
    ENSEMBL proteins: 
     ENSP00000450663   ENSP00000354532   ENSP00000450966   ENSP00000452421   ENSP00000451108  
    Reactome Protein details: P00491
    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: PNP
    OriGene Protein Over-expression Lysate: PNP
    OriGene Custom Protein Services for PNP 
    GenScript Custom Purified and Recombinant Proteins Services for PNP
    Novus Biologicals PNP Proteins
    Novus Biologicals PNP Lysate
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for PNP
    Uscn Proteins for PNP

    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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    Novus Biologicals PNP Antibodies
    Abcam antibodies for PNP 
    Uscn Antibodies for PNP
    Search ThermoFisher Antibodies for PNP

    Assay Products for PNP: 
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    Uscn ELISAs and CLIAs for PNP

    Protein Domains /
    Families
    for PNP gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PNP for domains           About GeneDecksing

    5 InterPro domains/families:
     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 family: IPB001369 Purine (and other) phosphorylase

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


    Function
    for PNP gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    Catalytic activity: Purine nucleoside + phosphate = purine + alpha-D-ribose 1-phosphate

    Enzyme Number (IUBMB): EC 2.4.2.11 2

    miRNA
    Products:            		miRTarBase miRNAs that target PNP:
    hsa-mir-1 (MIRT003765)

    OriGene 3'-UTR Clone: PNP
    Browse MicroRNA Expression Plasmids
    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 plasmid: PNP 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PNP (see all 7)
    OriGene shRNA RFP: PNP
    OriGene siRNA: PNP
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PNP

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

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PNP (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PNP (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: PNP (NM_000270)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PNP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PNP 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for PNP
    Search LifeMap BioReagents cell lines for PNP

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

    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:0004731purine-nucleoside phosphorylase activity IDA16964310
    GO:0008144drug binding IDA18938130
    GO:0016763transferase activity, transferring pentosyl groups ----


    PNP for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Pnptm1Cmr for PNP
         6 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Pnp):
     cellular  hematopoietic system  homeostasis/metabolism  immune system  mortality/aging 
     renal/urinary system 

    PNP for phenotypes           About GeneDecksing


    Pathways & Interactions
    for PNP gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1adenine and adenosine salvage III
    		adenine and adenosine salvage III1.00
    		xanthine and xanthosine salvage0.25
    		purine ribonucleosides degradation to ribose-1-phosphate0.75
    		guanosine nucleotides degradation III0.17
    		guanine and guanosine salvage I0.50
    		arsenate detoxification I (glutaredoxin)0.17
    2Purine metabolism
    		Purine metabolism1.00
    		Purine salvage0.39
    		Metabolism of nucleotides0.42
    		Purine catabolism0.30
    3purine nucleotides degradation II (aerobic)
    		purine nucleotides degradation II (aerobic)1.00
    		urate biosynthesis/inosine 5-phosphate degradation0.58
    		adenosine nucleotides degradation II0.67
    4NAD metabolism
    		NAD metabolism1.00
    		Nicotinate and nicotinamide metabolism0.43
    		NAD metabolism1.00
    5Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38

    Pathway sources
    See GeneCards unified pathways
    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
    urate biosynthesis/inosine 5-phosphate degradation
    purine nucleotides degradation II (aerobic)

    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



    Drugs & Compounds
    for PNP gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    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 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 

    Transcripts
    for PNP gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000553418 ENST00000361505(uc001vxo.4) ENST00000556293(uc010ahm.2)
    ENST00000557229(uc010ahn.3) ENST00000554469 ENST00000554056 ENST00000553591
    ENST00000554065 ENST00000556754(uc021rns.1)

    miRNA
    Products:             		 OriGene 3'-UTR Clone: PNP
    Browse OriGene MicroRNA Expression Plasmids
    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 plasmid: PNP 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PNP (see all 7)
    OriGene shRNA RFP: PNP
    OriGene siRNA: PNP
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PNP
    Clone
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    GenScript: all cDNA clones in your preferred vector: PNP (NM_000270)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PNP 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PNP
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PNP
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PNP
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PNP

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

    GeneLoc Exon Structure


    Expression
    for PNP gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGCCTCTGTC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    PNP expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeRetinaEye
    LiverLiver LobuleLiver
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ endothelial progenitor RP1-MV2-18 (Embryonic Progenitor Cell)Endothelium

    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

        SABiosciences Custom PCR Arrays for PNP
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    Orthologs
    for PNP gene

    (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 last universal common ancestor (LUCA).

    Orthologs for PNP gene from 9/31 species (see all 31)    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
    		 --
    		 70(a)
    		 1 ↔ 1
    		 GL343220.1(1255735-1262614)
    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_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 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria xapA6
    		 purine nucleoside phosphorylase II
    		 39(a)
    		 1 ↔ 1
    		 Chromosome(2522067-2522900)


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

    Paralogs
    for PNP gene

    (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


    Genomic Variants
    for PNP gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/232 NCBI SNPs in PNP are shown (see all 232)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 14 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs10495641,2
    		C,F,A,H,non-pathogenic1062218(-) TTCACC/TGTAGT 2 S G mis129Minor allele frequency- T:0.21NA EU NS EA WA CSA 8505
    rs1048944551,2
    		Cpathogenic1062137(+) AGCACC/TGACCT 2 R * stg10--------
    rs1048944601,2
    		Cpathogenic1062239(+) TTCCCC/TGAAGT 2 R * stg10--------
    rs1048944531,2
    		Cpathogenic1064326(+) TGTATA/GAAGGG 2 K E mis10--------
    rs1048944501,2
    		Cpathogenic1064641(+) TGGAGA/GTATCA 2 D G mis10--------
    rs1048944521,2
    		Cpathogenic1064946(+) CACCTA/GTGTGA 2 Y C mis10--------
    rs178805031,2
    		C,--1057354(+) ATTTTT/CAATTT 1 -- us2k12Minor allele frequency- C:0.02EU NA 46
    rs790643061,2
    		F,--1057394(+) TCTTAA/GACACT 1 -- us2k11Minor allele frequency- G:0.04WA 118
    rs794856011,2
    		C,F,--1057897(+) TGGCAG/CCATTG 1 -- us2k11Minor allele frequency- C:0.11NA 120
    rs178813561,2
    		C,F,--1058345(+) TTTTTT/AAATTT 1 -- us2k1 tfbs33Minor allele frequency- A:0.05EU WA NA 280

    HapMap Linkage Disequilibrium report for PNP (20937113 - 20946165 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for PNP
         1 CNV: 71865
    Human Gene Mutation Database (HGMD): PNP

    Locus Specific Mutation Databases (LSDB): PNP

    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PNP
    DNA2.0 Custom Variant and Variant Library Synthesis for PNP

    Disorders / Diseases
    for PNP gene

    (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
    PNP for disorders           About GeneDecksing

    OMIM gene information: 164050   
    OMIM disorders: 613179  
    UniProtKB/Swiss-Prot: PNPH_HUMAN, P00491
  • Defects in PNP are the cause of purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179]. It leads to a
    • severe T-cell immunodeficiency with neurologic disorder in children

    20/68 diseases for PNP (see all 68):    About MalaCards
    nucleoside phosphorylase deficiency    purine nucleoside phosphorylase deficiency    immunodeficiency due to purine nucleoside phosphorylase deficiency    lesch-nyhan syndrome
    adenosine deaminase deficiency    molybdenum cofactor deficiency    progressive multifocal leukoencephalopathy    severe combined immunodeficiency
    graft versus host disease    thoracic outlet syndrome    spastic paraplegia    hypouricemia
    common variable immunodeficiency    non-hodgkin lymphoma    combined immunodeficiency    pedophilia
    herpes simplex    myeloid leukemia    exhibitionism    paraplegia

    4 diseases from the University of Copenhagen DISEASES database for PNP:
    Schizophrenia     Purine nucleoside phosphorylase deficiency     Pedophilia     Exhibitionism

    10/52 Novoseek 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

    Publications
    for PNP gene

    (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 457):
    (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)

    External Searches for PNP gene

    (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)

    Genome Databases showing PNP gene

    (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

    Other Databases showing PNP gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PNP gene

    (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

    Intellectual Property
    for PNP gene

    (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



    Products
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     Recombinant Protein for PNP




     PNP Proteins, Antibodies, CLIAs, and ELISAs
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     Gene Synthesis
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     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PNP
     SwitchGear 3'UTR luciferase reporter plasmids for PNP
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     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PNP
           
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    von Willebrand factor
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