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Aliases for NPM1 Gene

Aliases for NPM1 Gene

  • Nucleophosmin (Nucleolar Phosphoprotein B23, Numatrin) 2 3
  • Nucleolar Phosphoprotein B23 2 4
  • Nucleolar Protein NO38 3 4
  • Numatrin 2 4
  • NPM 3 4
  • Nucleophosmin/Nucleoplasmin Family, Member 1 3
  • Nucleophosmin/Nucleoplasmin Family 2
  • Nucleophosmin 3
  • Member 1 2
  • B23 3

External Ids for NPM1 Gene

Previous GeneCards Identifiers for NPM1 Gene

  • GC05P171050
  • GC05P171517
  • GC05P170750
  • GC05P170795
  • GC05P170746
  • GC05P170747
  • GC05P170814
  • GC05P165912

Summaries for NPM1 Gene

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 leukemia, acute promyelocytic and acute myeloblastic leukemia without maturation. Among its related pathways are Disease and Cell Cycle, Mitotic. GO annotations related to this gene include RNA binding and protein heterodimerization activity. An important paralog of this gene is NPM2.

UniProtKB/Swiss-Prot for NPM1 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NPM1 Gene

Genomics for NPM1 Gene

Regulatory Elements for NPM1 Gene

Transcription factor binding sites by QIAGEN in the NPM1 gene promoter:

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for NPM1 Gene

Start:
171,387,116 bp from pter
End:
171,411,137 bp from pter
Size:
24,022 bases
Orientation:
Plus strand

Genomic View for NPM1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NPM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NPM1 Gene

Proteins for NPM1 Gene

  • Protein details for NPM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P06748-NPM_HUMAN
    Recommended name:
    Nucleophosmin
    Protein Accession:
    P06748
    Secondary Accessions:
    • A8K3N7
    • B5BU00
    • D3DQL6
    • P08693
    • Q12826
    • Q13440
    • Q13441
    • Q14115
    • Q5EU94
    • Q5EU95
    • Q5EU96
    • Q5EU97
    • Q5EU98
    • Q5EU99
    • Q6V962
    • Q8WTW5
    • Q96AT6
    • Q96DC4
    • Q96EA5
    • Q9BYG9
    • Q9UDJ7

    Protein attributes for NPM1 Gene

    Size:
    294 amino acids
    Molecular mass:
    32575 Da
    Quaternary structure:
    • 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. Interacts with CEBPA (isoform 4) (PubMed:20075868).

    Three dimensional structures from OCA and Proteopedia for NPM1 Gene

    Alternative splice isoforms for NPM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NPM1 Gene

Proteomics data for NPM1 Gene at MOPED

Post-translational modifications for NPM1 Gene

  • Acetylated at C-terminal lysine residues, thereby increasing affinity to histones.
  • ADP-ribosylated
  • 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 Kaposis sarcoma herpesvirus (KSHV) V-cyclin, leading to viral reactivation by reducing viral LANA levels.
  • Sumoylated by ARF.
  • Ubiquitination at Lys27, Lys32, Lys54, Lys80, Lys202, Lys248, Lys250, Lys267, and Lys273
  • Modification sites at PhosphoSitePlus

Other Protein References for NPM1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for NPM1 (NPM1)

No data available for DME Specific Peptides for NPM1 Gene

Domains for NPM1 Gene

Protein Domains for NPM1 Gene

Suggested Antigen Peptide Sequences for NPM1 Gene

Graphical View of Domain Structure for InterPro Entry

P06748

UniProtKB/Swiss-Prot:

NPM_HUMAN :
  • P06748
Family:
  • Belongs to the nucleoplasmin family.
genes like me logo Genes that share domains with NPM1: view

No data available for Gene Families for NPM1 Gene

Function for NPM1 Gene

Molecular function for NPM1 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for NPM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding --
GO:0003713 transcription coactivator activity IDA 15087454
GO:0003723 RNA binding IDA 12058066
GO:0004860 protein kinase inhibitor activity IDA 12882984
GO:0005515 protein binding IPI 12080348
genes like me logo Genes that share ontologies with NPM1: view
genes like me logo Genes that share phenotypes with NPM1: view

Animal Models for NPM1 Gene

MGI Knock Outs for NPM1:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NPM1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for NPM1 Gene

Localization for NPM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NPM1 Gene

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
Jensen Localization Image for NPM1 Gene COMPARTMENTS Subcellular localization image for NPM1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 4

Gene Ontology (GO) - Cellular Components for NPM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm ISS --
GO:0005813 centrosome ISS --
genes like me logo Genes that share ontologies with NPM1: view

Pathways for NPM1 Gene

genes like me logo Genes that share pathways with NPM1: view

Pathways by source for NPM1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for NPM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IDA 19188445
GO:0006334 nucleosome assembly TAS --
GO:0006886 intracellular protein transport TAS 12080348
GO:0006913 nucleocytoplasmic transport TAS 12080348
GO:0006950 response to stress IMP 12080348
genes like me logo Genes that share ontologies with NPM1: view

Compounds for NPM1 Gene

(44) Novoseek inferred chemical compound relationships for NPM1 Gene

Compound -log(P) Hits PubMed IDs
b 231 88.6 7
[alcl] 87.6 20
cl 100 61.4 7
actinomycin d 59.3 25
mnda 58.1 5
genes like me logo Genes that share compounds with NPM1: view

Transcripts for NPM1 Gene

Unigene Clusters for NPM1 Gene

Nucleophosmin (nucleolar phosphoprotein B23, numatrin):
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NPM1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NPM1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b
SP1: - - -
SP2:
SP3: - - - - - - - - - - -
SP4:
SP5: -
SP6: -

Relevant External Links for NPM1 Gene

GeneLoc Exon Structure for
NPM1
ECgene alternative splicing isoforms for
NPM1

Expression for NPM1 Gene

mRNA expression in normal human tissues for NPM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for NPM1 Gene

This gene is overexpressed in Amniocyte (6.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NPM1 Gene

SOURCE GeneReport for Unigene cluster for NPM1 Gene Hs.557550

genes like me logo Genes that share expressions with NPM1: view

Expression partners for NPM1 Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for NPM1 Gene

Orthologs for NPM1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NPM1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NPM1 35
  • 92.72 (n)
  • 94.2 (a)
-- 36
  • 93 (a)
OneToMany
NPM1 36
  • 96 (a)
OneToMany
dog
(Canis familiaris)
Mammalia NPM1 35
  • 94.88 (n)
  • 97.61 (a)
NPM1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Npm1 35
  • 91.1 (n)
  • 94.18 (a)
Npm1 16
Gm5611 36
  • 92 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia NPM1 35
  • 99.66 (n)
  • 100 (a)
NPM1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Npm1 35
  • 91.1 (n)
  • 94.18 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 88 (a)
OneToMany
-- 36
  • 81 (a)
OneToMany
-- 36
  • 22 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia NPM1 36
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves NPM1 35
  • 71.84 (n)
  • 70 (a)
NPM1 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NPM1 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75688 35
npm1 35
  • 67.12 (n)
  • 63.7 (a)
zebrafish
(Danio rerio)
Actinopterygii npm1a 35
  • 59.31 (n)
  • 50.89 (a)
npm1a 36
  • 49 (a)
OneToOne
Species with no ortholog for NPM1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NPM1 Gene

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

Paralogs for NPM1 Gene

Paralogs for NPM1 Gene

Selected SIMAP similar genes for NPM1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with NPM1: view

Variants for NPM1 Gene

Sequence variations from dbSNP and Humsavar for NPM1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs1059404 -- 171,410,601(+) TTTCC(A/G)TCTTA utr-variant-3-prime
rs1059683 -- 171,410,812(+) GTAGC(A/G)GTGGT utr-variant-3-prime
rs3209214 -- 171,410,588(+) TTTGT(A/T)AAAAA utr-variant-3-prime
rs3830032 -- 171,391,893(+) GTACT(A/G)CTGTC intron-variant
rs3830033 -- 171,391,902(+) TCTTT(A/T)TAATA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NPM1 Gene

Variant ID Type Subtype PubMed ID
nsv830551 CNV Loss 17160897
nsv508387 CNV Loss 20534489
nsv830552 CNV Gain 17160897
nsv823347 CNV Gain 20364138

Relevant External Links for NPM1 Gene

HapMap Linkage Disequilibrium report
NPM1
Human Gene Mutation Database (HGMD)
NPM1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NPM1 Gene

Disorders for NPM1 Gene

(1) OMIM Diseases for NPM1 Gene (164040)

UniProtKB/Swiss-Prot

NPM_HUMAN
  • 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.

(3) University of Copenhagen DISEASES for NPM1 Gene

(39) Novoseek inferred disease relationships for NPM1 Gene

Disease -log(P) Hits PubMed IDs
anaplastic large cell lymphoma 88.6 25
aml adult 78.4 13
lymphoma large cell 70.2 7
lymphomatoid papulosis 69.9 1
minimal residual disease 66.9 16

Genatlas disease for NPM1 Gene

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

Relevant External Links for NPM1

Genetic Association Database (GAD)
NPM1
Human Genome Epidemiology (HuGE) Navigator
NPM1
Tumor Gene Database (TGDB):
NPM1
genes like me logo Genes that share disorders with NPM1: view

Publications for NPM1 Gene

  1. Fusion of a kinase gene, ALK, to a nucleolar protein gene, NPM, in non-Hodgkin's lymphoma. (PMID: 8122112) Morris S.W. … Look A.T. (Science 1994) 2 3 4 23
  2. The t(5;17) variant of acute promyelocytic leukemia expresses a nucleophosmin-retinoic acid receptor fusion. (PMID: 8562957) Redner R.L. … Corey S.J. (Blood 1996) 3 4 23
  3. The t(3;5)(q25.1;q34) of myelodysplastic syndrome and acute myeloid leukemia produces a novel fusion gene, NPM-MLF1. (PMID: 8570204) Yoneda-Kato N. … Morris S.W. (Oncogene 1996) 3 4 23
  4. Isolation and characterization of the human nucleophosmin/B23 (NPM) gene: identification of the YY1 binding site at the 5' enhancer region. (PMID: 9092633) Chan P.-K. … Xie Z. (Nucleic Acids Res. 1997) 3 4 23
  5. Characterization of the transforming activity of p80, a hyperphosphorylated protein in a Ki-1 lymphoma cell line with chromosomal translocation t(2;5). (PMID: 8633037) Fujimoto J. … Yamamoto T. (Proc. Natl. Acad. Sci. U.S.A. 1996) 3 4 23

Products for NPM1 Gene

  • Addgene plasmids for NPM1

Sources for NPM1 Gene

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