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NPM1 Gene

protein-coding   GIFtS: 67
GCID: GC05P170814

Nucleophosmin (Nucleolar Phosphoprotein B23, Numatrin)

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)
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Aliases
Nucleophosmin (Nucleolar Phosphoprotein B23, Numatrin)1 2     numatrin1
Nucleolar Phosphoprotein B231 3     B232
Nucleolar Protein NO382 3     nucleophosmin2
NPM2 3     Nucleophosmin/Nucleoplasmin Family, Member 12
Member 11     Numatrin3
Nucleophosmin/Nucleoplasmin Family1     

External Ids:    HGNC: 79101   Entrez Gene: 48692   Ensembl: ENSG000001811637   OMIM: 1640405   UniProtKB: P067483   

Export aliases for NPM1 gene to outside databases

Previous GC identifers: GC05P171050 GC05P171517 GC05P170750 GC05P170795 GC05P170746 GC05P170747 GC05P165912


(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 NPM1 Gene:
This gene encodes a phosphoprotein which moves between the nucleus and the cytoplasm. The gene product is thought
to be involved in several processes including regulation of the ARF/p53 pathway. A number of genes are fusion
partners have been characterized, in particular the anaplastic lymphoma kinase gene on chromosome 2. Mutations in
this gene are associated with acute myeloid leukemia. More than a dozen pseudogenes of this gene have been
identified. Alternative splicing results in multiple transcript variants.(provided by RefSeq, Nov 2009)

GeneCards Summary for NPM1 Gene:
NPM1 (nucleophosmin (nucleolar phosphoprotein B23, numatrin)) is a protein-coding gene. Diseases associated with NPM1 include npm1-related acute myeloid leukemia, and leukemia, acute promyelocytic, npm/rara type. GO annotations related to this gene include RNA binding and protein heterodimerization activity. An important paralog of this gene is NPM3.

UniProtKB/Swiss-Prot: NPM_HUMAN, P06748
Function: Involved in diverse cellular processes such as ribosome biogenesis, centrosome duplication, protein
chaperoning, histone assembly, cell proliferation, and regulation of tumor suppressors p53/TP53 and ARF. Binds
ribosome presumably to drive ribosome nuclear export. Associated with nucleolar ribonucleoprotein structures and
bind single-stranded nucleic acids. Acts as a chaperonin for the core histones H3, H2B and H4. Stimulates APEX1
endonuclease activity on apurinic/apyrimidinic (AP) double-stranded DNA but inhibits APEX1 endonuclease activity
on AP single-stranded RNA. May exert a control of APEX1 endonuclease activity within nucleoli devoted to repair
AP on rDNA and the removal of oxidized rRNA molecules. In concert with BRCA2, regulates centrosome duplication.
Regulates centriole duplication: phosphorylation by PLK2 is able to trigger centriole replication. Negatively
regulates the activation of EIF2AK2/PKR and suppresses apoptosis through inhibition of EIF2AK2/PKR
autophosphorylation

Gene Wiki entry for NPM1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000005.10  NT_023133.14  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NPM1 gene promoter:
         AP-1   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): NPM1 promoter sequence
   Search Chromatin IP Primers for NPM1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NPM1


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

Entrez Gene cytogenetic band: 5q35.1   Ensembl cytogenetic band:  5q35.1   HGNC cytogenetic band: 5q35.1

NPM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NPM1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P170814:  view genomic region     (about GC identifiers)

Start:
170,814,120 bp from pter      End:
170,838,141 bp from pter
Size:
24,022 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: NPM_HUMAN, P06748 (See protein sequence)
Recommended Name: Nucleophosmin  
Size: 294 amino acids; 32575 Da
Subunit: Decamer formed by two pentameric rings associated in a head-to-head fashion. Disulfide-linked dimers
under certain conditions. The SWAP complex consists of NPM1, NCL, PARP1 and SWAP70 (By similarity). Interacts
with NSUN2 and SENP3. Interacts with hepatitis delta virus S-HDAg. Interacts with HTLV1 Rex protein (via
N-terminal nuclear localization signal). Interacts with the methylated form of RPS10. Interacts (via N-terminal
domain) with APEX1; the interaction is RNA-dependent and decreases in hydrogen peroxide-damaged cells. Interacts
with isoform 1 of NEK2. Interacts with ROCK2 and BRCA2. Interacts with RPGR. Interacts with CENPW. Interacts with
EIF2AK2/PKR
3 PDB 3D structures from and Proteopedia for NPM1:
2LLH (3D)        2P1B (3D)        2VXD (3D)    
Secondary accessions: A8K3N7 B5BU00 D3DQL6 P08693 Q12826 Q13440 Q13441 Q14115 Q5EU94 Q5EU95
Q5EU96 Q5EU97 Q5EU98 Q5EU99 Q6V962 Q8WTW5 Q96AT6 Q96DC4 Q96EA5 Q9BYG9 Q9UDJ7
Alternative splicing: 3 isoforms:  P06748-1   P06748-2   P06748-3   (Contains a N6-acetyllysine at position 257. Contains a phosphoserine at position 254)

Explore the universe of human proteins at neXtProt for NPM1: NX_P06748

Explore proteomics data for NPM1 at MOPED

Post-translational modifications: 

  • Acetylated at C-terminal lysine residues, thereby increasing affinity to histones1
  • ADP-ribosylated1
  • Phosphorylated at Ser-4 by PLK1 and PLK2. Phosphorylation at Ser-4 by PLK2 in S phase is required for centriole
    duplication and is sufficient to trigger centriole replication. Phosphorylation at Ser-4 by PLK1 takes place
    during mitosis. Phosphorylated by CDK2 at Ser-125 and Thr-199. Phosphorylation at Thr-199 may trigger initiation
    of centrosome duplication. Phosphorylated by CDK1 at Thr-199, Thr-219, Thr-234 and Thr-237 during cell mitosis.
    When these four sites are phosphorated, RNA-binding activity seem to be abolished. May be phosphorylated at
    Ser-70 by NEK2. The Thr-199 phosphorylated form has higher affinity for ROCK2. CDK6 triggers Thr-199
    phosphorylation when complexed to Kaposi's sarcoma herpesvirus (KSHV) V-cyclin, leading to viral reactivation by
    reducing viral LANA levels1
  • Sumoylated by ARF1
  • Ubiquitination2 at Lys27, Lys32, Lys54, Lys80, Lys202, Lys248, Lys250, Lys267, Lys273
  • Modification sites at PhosphoSitePlus

  • See NPM1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001032827.1  NP_002511.1  NP_954654.1  

    ENSEMBL proteins: 
     ENSP00000428755   ENSP00000296930   ENSP00000429485   ENSP00000341168   ENSP00000377408  
     ENSP00000428647  
    Reactome Protein details: P06748

    NPM1 Human Recombinant Protein Products:

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    OriGene Purified Proteins for NPM1
    OriGene Protein Over-expression Lysate for NPM1
    OriGene MassSpec for NPM1
    OriGene Custom Protein Services for NPM1
    GenScript Custom Purified and Recombinant Proteins Services for NPM1
    Novus Biologicals NPM1 Protein
    Novus Biologicals NPM1 Lysates
    Sino Biological Recombinant Protein for NPM1
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for NPM1
    Browse Proteins at Cloud-Clone Corp.

    NPM1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of NPM1
    R&D Systems Antibodies for NPM1
    Cell Signaling Technology (CST) Antibodies for NPM1 
    OriGene Antibodies for NPM1
    OriGene Custom Antibody Services for NPM1
    Novus Biologicals NPM1 Antibodies
    Abcam antibodies for NPM1
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for NPM1
    LSBio Antibodies in human, mouse, rat for NPM1

    NPM1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for NPM1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for NPM1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR024057 Nucleoplasmin_core_dom
     IPR004301 Nucleoplasmin

    Graphical View of Domain Structure for InterPro Entry P06748

    ProtoNet protein and cluster: P06748

    1 Blocks protein domain: IPB004301 Nucleoplasmin

    UniProtKB/Swiss-Prot: NPM_HUMAN, P06748
    Similarity: Belongs to the nucleoplasmin family


    NPM1 for domains           About GeneDecksing


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

         UniProtKB/Swiss-Prot Summary: NPM_HUMAN, P06748
    Function: Involved in diverse cellular processes such as ribosome biogenesis, centrosome duplication, protein
    chaperoning, histone assembly, cell proliferation, and regulation of tumor suppressors p53/TP53 and ARF. Binds
    ribosome presumably to drive ribosome nuclear export. Associated with nucleolar ribonucleoprotein structures and
    bind single-stranded nucleic acids. Acts as a chaperonin for the core histones H3, H2B and H4. Stimulates APEX1
    endonuclease activity on apurinic/apyrimidinic (AP) double-stranded DNA but inhibits APEX1 endonuclease activity
    on AP single-stranded RNA. May exert a control of APEX1 endonuclease activity within nucleoli devoted to repair
    AP on rDNA and the removal of oxidized rRNA molecules. In concert with BRCA2, regulates centrosome duplication.
    Regulates centriole duplication: phosphorylation by PLK2 is able to trigger centriole replication. Negatively
    regulates the activation of EIF2AK2/PKR and suppresses apoptosis through inhibition of EIF2AK2/PKR
    autophosphorylation

         Genatlas biochemistry entry for NPM1:
    nucleophosmin,interferon 1 (IRF1) binding protein,involved in anaplastic nodal non Hodgkin lymphoma and B cell
    lymphoma with translocation t(2;5)(p23;q35),see ALK,and in acute promyelocytic leukemia with translocation
    t(5;17) and myelodysplastic syndrome

         Gene Ontology (GO): Selected molecular function terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003713transcription coactivator activity IDA15087454
    GO:0003723RNA binding IDA12058066
    GO:0004860protein kinase inhibitor activity IDA12882984
    GO:0005515protein binding IPI12080348
         
    NPM1 for ontologies           About GeneDecksing


    Phenotypes:
         12 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Npm1):
     cardiovascular system  cellular  embryogenesis  growth/size/body  hematopoietic system 
     immune system  integument  liver/biliary system  mortality/aging  nervous system 
     tumorigenesis  vision/eye 

    NPM1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Npm1tm2Ppp for NPM1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NPM1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NPM1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NPM1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NPM1

    miRNA
    Products:
        
    miRTarBase miRNAs that target NPM1:
    hsa-mir-625-5p (MIRT039598), hsa-mir-23b-3p (MIRT046377), hsa-mir-93-5p (MIRT048875), hsa-mir-15b-5p (MIRT046385), hsa-mir-93-3p (MIRT038792), hsa-mir-92a-3p (MIRT049162), hsa-mir-598-3p (MIRT040495), hsa-mir-125a-5p (MIRT045754), hsa-mir-421 (MIRT039386), hsa-mir-92b-3p (MIRT040565), hsa-mir-296-3p (MIRT038406), hsa-mir-149-5p (MIRT045680), hsa-mir-320a (MIRT044729), hsa-mir-25-3p (MIRT050209), hsa-mir-125b-5p (MIRT045923), hsa-mir-193b-3p (MIRT041488)

    Block miRNA regulation of human, mouse, rat NPM1 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate NPM1:
    hsa-miR-587 hsa-miR-548am hsa-miR-182 hsa-miR-548x hsa-miR-543 hsa-miR-3153
    SwitchGear 3'UTR luciferase reporter plasmidNPM1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NPM1
    Predesigned siRNA for gene silencing in human, mouse, rat NPM1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for NPM1

    Clone
    Products:
         
    OriGene clones in human, mouse for NPM1 (see all 19)
    OriGene ORF clones in mouse, rat for NPM1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): NPM1 (NM_002520)
    Sino Biological Human cDNA Clone for NPM1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NPM1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NPM1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for NPM1
    Browse ESI BIO Cell Lines and PureStem Progenitors for NPM1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPM1


    (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
    NPM_HUMAN, P06748: Nucleus, nucleolus. Nucleus, nucleoplasm. Cytoplasm, cytoskeleton, microtubule organizing
    center, centrosome. Note=Generally nucleolar, but is translocated to the nucleoplasm in case of serum starvation
    or treatment with anticancer drugs. Has been found in the cytoplasm in patients with primary acute myelogenous
    leukemia (AML), but not with secondary AML. Can shuttle between cytoplasm and nucleus. Co- localizes with the
    methylated form of RPS10 in the granular component (GC) region of the nucleolus. Colocalized with nucleolin and
    APEX1 in nucleoli. Isoform 1 of NEK2 is required for its localization to the centrosome during mitosis
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    cytosol4

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0005654nucleoplasm TAS--
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm ISS--
    GO:0005813centrosome ISS--

    NPM1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for NPM1 About   (see all 13)  
    See pathways by source

    SuperPathContained pathways About
    1Packaging Of Telomere Ends
    Chromosome Maintenance0.62
    Deposition of New CENPA-containing Nucleosomes at the Centromere0.59
    Nucleosome assembly0.59
    2Regulation of Glucokinase by Glucokinase Regulatory Protein
    Nuclear import of Rev protein0.91
    Interactions of Rev with host cellular proteins0.91
    3HIV Life Cycle
    HIV Infection0.62
    Host Interactions of HIV factors0.60
    4Cell Cycle, Mitotic
    Cell Cycle0.90
    5TNF Signaling
    NF-kB (NFkB) Pathway0.46

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for NPM1
        Cell Cycle / Checkpoint Control
    Tyrosine Kinases / Adaptors

    1 GeneGo (Thomson Reuters) Pathway for NPM1
        Apoptosis and survival NGF signaling pathway

    4 BioSystems Pathways for NPM1
        BARD1 signaling events
    Aurora B signaling
    HIF-1-alpha transcription factor network
    Validated targets of C-MYC transcriptional activation

    1 Sino Biological Pathway for NPM1
        NF-kB (NFkB) Pathway

    2 Reactome Pathways for NPM1
        Nuclear import of Rev protein
    Deposition of new CENPA-containing nucleosomes at the centromere



    NPM1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NPM1: 
              Leukemia in human mouse rat
              Apoptosis 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NPM1

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

    Selected Interacting proteins for NPM1 (P067481, 2, 3 ENSP000002969304) via UniProtKB, MINT, STRING, and/or I2D (see all 996)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SENP3Q9H4L41, 2, 3, ENSP000003140294EBI-78579,EBI-2880236 MINT-8150033 MINT-6541744 MINT-6541756 MINT-6541718 MINT-6541768 MINT-6541788 MINT-7947479 MINT-8151622 I2D: score=2 STRING: ENSP00000314029
    HIST1H4AP628052, 3, ENSP000003529804MINT-7899812 I2D: score=2 STRING: ENSP00000352980
    HIST1H4LP628052, 3, ENSP000003482584MINT-7899812 I2D: score=2 STRING: ENSP00000348258
    HIST1H4BP628052, 3MINT-7899812 I2D: score=2 
    HIST1H4CP628052, 3MINT-7899812 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 24):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006281DNA repair IDA19188445
    GO:0006334nucleosome assembly TAS--
    GO:0006886intracellular protein transport TAS12080348
    GO:0006913nucleocytoplasmic transport TAS12080348
    GO:0006950response to stress IMP12080348

    NPM1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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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 NPM1 (NPM)

    Selected Novoseek inferred chemical compound relationships for NPM1 gene (see all 44)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    b 231 88.6 7 11481036 (2), 18024892 (2), 12450141 (1), 7527039 (1) (see all 5)
    [alcl] 87.6 32 8781434 (3), 9844824 (2), 9250148 (2), 16049513 (1) (see all 16)
    cl 100 61.4 7 9013447 (5), 7961985 (1), 9178761 (1)
    actinomycin d 59.3 28 1381705 (5), 1697505 (3), 1756512 (3), 1399149 (2) (see all 15)
    mnda 58.1 7 9328447 (4), 9712147 (1)
    tyrosine 45.5 51 18450602 (2), 8866227 (1), 11110708 (1), 9209644 (1) (see all 34)
    retinoic acid 40.7 14 1568462 (6), 17318229 (3), 8562957 (1), 10360373 (1) (see all 5)
    5,6-dichloro-1-beta-d-ribofuranosylbenzimidazole 37.1 3 16342411 (1), 8799815 (1)
    adenylosuccinate 37 2 9810514 (1), 8575443 (1)
    leptomycin b 35.1 6 16041368 (2), 16455950 (1), 16720834 (1)



    NPM1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for NPM1 gene (3 alternative transcripts): 
    NM_001037738.2  NM_002520.6  NM_199185.3  

    Unigene Cluster for NPM1:

    Nucleophosmin (nucleolar phosphoprotein B23, numatrin)
    Hs.557550  [show with all ESTs]
    Unigene Representative Sequence: BM541948
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000517671 ENST00000296930(uc003mbi.3 uc003mbj.3) ENST00000521672
    ENST00000351986 ENST00000393820(uc003mbh.3) ENST00000523339 ENST00000523622
    ENST00000518587 ENST00000521260 ENST00000521710 ENST00000519955 ENST00000524204

    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Block miRNA regulation of human, mouse, rat NPM1 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate NPM1:
    hsa-miR-587 hsa-miR-548am hsa-miR-182 hsa-miR-548x hsa-miR-543 hsa-miR-3153
    SwitchGear 3'UTR luciferase reporter plasmidNPM1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat NPM1
    Clone
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    OriGene clones in human, mouse for NPM1 (see all 19)
    OriGene ORF clones in mouse, rat for NPM1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): NPM1 (NM_002520)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NPM1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NPM1
    Primer
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    OriGene qPCR primer pairs and template standards for NPM1
    OriGene qSTAR qPCR primer pairs in human, mouse for NPM1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NPM1
      QuantiTect SYBR Green Assays in human, mouse, rat NPM1
      QuantiFast Probe-based Assays in human, mouse, rat NPM1

    Additional mRNA sequence: 

    AB042278.1 AB451236.1 AB451361.1 AK000472.1 AK290652.1 AY347529.1 AY740634.1 AY740635.1 
    AY740636.1 AY740637.1 AY740638.1 AY740639.1 AY740640.1 BC002398.2 BC003670.1 BC008495.1 
    BC009623.2 BC012566.1 BC014349.1 BC016716.1 BC016768.1 BC016824.1 BC020467.1 BC021668.1 
    BC021983.1 BC050628.1 BC107754.1 BT007011.1 D28343.1 DQ303464.1 EF429251.1 J02590.1 
    M23613.1 M26697.1 M28699.1 M31004.1 X16934.1 

    Selected DOTS entries (see all 108):

    DT.87018247  DT.95370767  DT.100740910  DT.95192066  DT.100809844  DT.100045881  DT.100740963  DT.91783568 
    DT.95370553  DT.91783476  DT.100740960  DT.91674473  DT.95370562  DT.100740946  DT.100740934  DT.100045872 
    DT.100740901  DT.91783601  DT.95370585  DT.121476294  DT.100849758  DT.100740969  DT.120890192  DT.100740877 

    Selected AceView cDNA sequences (see all 3382):

    BQ644026 AA129100 BM463912 BE888151 BP378286 BM761531 AA316817 BM456047 
    BM763129 BQ439805 BM462183 BE882760 BM464605 BP367856 BM802143 BP361801 
    BM761034 BQ049526 BU782670 CB159458 BQ425612 BQ774903 CA422976 BP367796 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NPM1 (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b
    SP1:                                                        -     -           -                           
    SP2:                                                                                                      
    SP3:                    -     -     -     -     -     -     -     -     -     -     -                     
    SP4:                                                                                                      
    SP5:                                                                          -                           


    ECgene alternative splicing isoforms for NPM1

    (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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    NPM1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    NPM1 Expression
    About this image


    NPM1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 21) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 6 entries
             VUB03_DM1
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    NPM1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NPM1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.557550
        Pathway & Disease-focused RT2 Profiler PCR Arrays including NPM1: 
              Leukemia in human mouse rat
              Apoptosis 384HT in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for NPM1
    OriGene qSTAR qPCR primer pairs in human, mouse for NPM1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NPM1
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    QuantiFast Probe-based Assays in human, mouse, rat NPM1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPM1

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

    Orthologs for NPM1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Npm11 , 5 nucleophosmin 11, 5 91.1(n)1
    94.18(a)1
      11 (19.21 cM)5
    181481  NM_008722.31  NP_032748.11 
     331522875 
    chicken
    (Gallus gallus)
    Aves NPM11 nucleophosmin (nucleolar phosphoprotein B23, numatrin) 71.84(n)
    70(a)
      396203  NM_205267.1  NP_990598.1 
    lizard
    (Anolis carolinensis)
    Reptilia NPM16
    nucleophosmin (nucleolar phosphoprotein B23, numat...
    67(a)
    1 ↔ 1
    1(130273606-130288348)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia MGC756882 hypothetical protein MGC75688 75.64(n)    BC059736.1 
    zebrafish
    (Danio rerio)
    Actinopterygii npm1a1 nucleophosmin 1a 59.31(n)
    50.89(a)
      266985  NM_199428.1  NP_955460.1 


    ENSEMBL Gene Tree for NPM1 (if available)
    TreeFam Gene Tree for NPM1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for NPM1 gene
    NPM32  NPM22  
    3 SIMAP similar genes for NPM1 using alignment to 6 protein entries:     NPM_HUMAN (see all proteins):
    CLEC2D    NPM3    NPM2

    NPM1 for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for NPM1 (see all 51)
    PGOHUM00000238528 PGOHUM00000238599 PGOHUM00000238690 PGOHUM00000238901 PGOHUM00000238963


    (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 NPM1 (see all 581)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs724945221,2
    C,F--170812774(+) CGGGCG/ACCATG 3 -- us2k12Minor allele frequency- A:0.06NA EA 240
    rs1930322231,2
    --170812778(+) CGCCAG/TGGCTC 3 -- us2k10--------
    rs1411267831,2
    C--170812846(+) AGTTCA/GAGTCC 3 -- us2k10--------
    rs1502772091,2
    --170812941(+) TACTTA/GGGAGG 3 -- us2k10--------
    rs2021624171,2
    C--170812949(+) AGGCTA/GAGGCA 3 -- us2k10--------
    rs1851879491,2
    C--170813034(+) CAGAGC/TGGGAC 3 -- us2k10--------
    rs592617901,2
    C--170813048(+) AAAAA-/ATTAAA 3 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs2019560801,2
    C--170815765(+) GGCAG-/CTCTCAT 3 -- int10--------
    rs1920275091,2
    --170815776(+) TTTTTC/TTGAGC 3 -- int10--------
    rs1476124921,2
    --170815793(+) TCTGTC/GTCACT 3 -- int10--------

    HapMap Linkage Disequilibrium report for NPM1 (170814120 - 170838141 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for NPM1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv830551CNV Loss17160897
    nsv508387CNV Loss20534489
    nsv823347CNV Gain20364138
    nsv830552CNV Gain17160897

    Human Gene Mutation Database (HGMD): NPM1
    Selected Site Specific Mutation Identification with PCR Assays for NPM1 (see all 7):
    Cosmic IdAA Change
    20814p.W288fs*12
    17573p.W288fs*12
    17559p.W288fs*12
    17571p.W288fs*12
    20815p.W288fs*12
    Selected Site Specific Cancer Mutation PCR Panels containing NPM1 (see all 6):
    Oncogene and Tumor Suppressor Panel 384HT
    Hematopoietic Neoplasms
    Acute Myeloid Leukemia
    Cancer Comprehensive Panel 384HT
    Oncogene Panel 384HT
    SeqTarget long-range PCR primers for resequencing NPM1
    DNA2.0 Custom Variant and Variant Library Synthesis for NPM1

    (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

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    OMIM gene information: 164040   
    OMIM disorders: 601626  
    UniProtKB/Swiss-Prot: NPM_HUMAN, P06748
  • Note=A chromosomal aberration involving NPM1 is found in a form of non-Hodgkin lymphoma. Translocation
    t(2;5)(p23;q35) with ALK. The resulting chimeric NPM1-ALK protein homodimerize and the kinase becomes
    constitutively activated
  • Note=A chromosomal aberration involving NPM1 is found in a form of acute promyelocytic leukemia.
    Translocation t(5;17)(q32;q11) with RARA
  • Note=A chromosomal aberration involving NPM1 is a cause of myelodysplastic syndrome (MDS). Translocation
    t(3;5)(q25.1;q34) with MLF1
  • Note=Defects in NPM1 are associated with acute myelogenous leukemia (AML). Mutations in exon 12 affecting
    the C-terminus of the protein are associated with an aberrant cytoplasmic location

  • Selected diseases for NPM1 (see all 69):    
    About MalaCards
    npm1-related acute myeloid leukemia    leukemia, acute promyelocytic, npm/rara type    acute myeloblastic leukemia without maturation    acute myeloid leukemia
    acute myeloblastic leukemia with maturation    acute myelomonocytic leukemia    acute promyelocytic leukemia    blastic plasmacytoid dendritic cell
    myeloid sarcoma    shwachman-diamond syndrome    cytogenetically normal acute myeloid leukemia    anaplastic large cell lymphoma
    lymphomatoid papulosis    reticulosarcoma    alk-positive anaplastic large cell lymphoma    myeloid leukemia
    chronic myelomonocytic leukemia    myelodysplastic syndromes    japanese encephalitis    fanconi's anemia

    3 diseases from the University of Copenhagen DISEASES database for NPM1:
    Leukemia     Reticulosarcoma     Lymphoma

    NPM1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for NPM1 gene (see all 39)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    anaplastic large cell lymphoma 88.6 35 8866227 (2), 17608768 (2), 9665204 (1), 9736036 (1) (see all 23)
    aml adult 78.4 20 16455950 (1), 18726096 (1), 17440048 (1), 17597811 (1) (see all 13)
    lymphoma large cell 70.2 9 17464320 (2), 11110708 (1), 15208656 (1), 16596703 (1) (see all 6)
    lymphomatoid papulosis 69.9 1 8781434 (1)
    minimal residual disease 66.9 24 17361227 (2), 19055671 (2), 18830256 (1), 17488663 (1) (see all 14)
    lymphoma 64.9 126 8187071 (4), 17488663 (3), 8859196 (2), 15233906 (2) (see all 64)
    leukemogenesis 64.9 13 16540653 (2), 17076533 (1), 17475909 (1), 19817644 (1) (see all 9)
    leukemia promyelocytic acute 61.7 7 15870172 (1), 10393836 (1), 9989813 (1), 8952164 (1) (see all 5)
    aml childhood 57.4 14 19020547 (3), 15870172 (2), 17597811 (2), 17440048 (1) (see all 5)
    leukemia 52.8 43 18718053 (3), 17488663 (3), 18450602 (3), 17598835 (2) (see all 21)

    Genatlas disease: NPM1
    acute promyelocytic leukemia (APL) gene fused with RARA in t(5;17) translocation (see RARA)

    Genetic Association Database (GAD): NPM1
    Human Genome Epidemiology (HuGE) Navigator: NPM1 (75 documents)
    Tumor Gene Database (TGDB): NPM1

    Export disorders for NPM1 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 NPM1 gene, integrated from 10 sources (see all 862):
    (articles sorted by number of sources associating them with NPM1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Fusion of a kinase gene, ALK, to a nucleolar protein gene, NPM, in non-Hodgkin's lymphoma. (PubMed id 8122112)1, 2, 3, 9 Morris S.W.... Look A.T. (Science 1994)
    2. Cytoplasmic localization of nucleophosmin in bone marrow blasts of acute myeloid leukemia patients is not completely concordant with NPM1 mutation and is not predictive of prognosis. (PubMed id 19637342)1, 4, 9 Konoplev S....Bueso-Ramos C.E. (Cancer 2009)
    3. Cytoplasmic expression of nucleophosmin accurately predicts mutation in the nucleophosmin gene in patients with acute myeloid leukemia and normal karyotype. (PubMed id 20023256)1, 4, 9 Luo J....Chang H. (Am. J. Clin. Pathol. 2010)
    4. Mutations of NPM1 gene in de novo acute myeloid leukaemia: determination of incidence, distribution pattern and identification of two novel mutations in Indian population. (PubMed id 19365794)1, 4, 9 Ahmad F....Das B.R. (Hematol Oncol 2009)
    5. Cytoplasmic nucleophosmin in acute myelogenous leukemia with a normal karyotype. (PubMed id 15659725)1, 2, 9 Falini B.... Martelli M.F. (N. Engl. J. Med. 2005)
    6. Structural consequences of nucleophosmin mutations in acute myeloid leukemia. (PubMed id 18511415)1, 2, 9 Grummitt C.G.... Bycroft M. (J. Biol. Chem. 2008)
    7. Clinical impact of nucleophosmin mutations and Flt3 internal tandem duplications in patients older than 60 yr with acute myeloid leukaemia. (PubMed id 18081718)1, 4, 9 Scholl S....Wedding U. (Eur. J. Haematol. 2008)
    8. Prevalence and prognostic impact of NPM1 mutations in 1485 adult patients with acute myeloid leukemia (AML). (PubMed id 16455956)1, 4, 9 Thiede C....Ehninger G. (Blood 2006)
    9. Nucleophosmin interacts with and inhibits the catalytic function of eukaryotic initiation factor 2 kinase PKR. (PubMed id 12882984)1, 2, 9 Pang Q.... Bagby G.C. (J. Biol. Chem. 2003)
    10. Nucleophosmin mutations in Chinese adults with acute myelogenous leukemia. (PubMed id 18726096)1, 4, 9 Ruan G.R....Huang X.J. (Ann. Hematol. 2009)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4869 HGNC: 7910 AceView: NPM1 Ensembl:ENSG00000181163 euGenes: HUgn4869
    ECgene: NPM1 H-InvDB: NPM1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for NPM1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NPM1 Genetics and Cytogenetics in Oncology and Haematology

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

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    Patent Information for NPM1 gene:
    Search GeneIP for patents involving NPM1

    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, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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