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Aliases for NPM1 Gene

Aliases for NPM1 Gene

  • Nucleophosmin (Nucleolar Phosphoprotein B23, Numatrin) 2 3 5
  • 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
  • Testicular Tissue Protein Li 128 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 myeloid and lymphomatoid papulosis. Among its related pathways are Gene Expression and Regulation of Glucokinase by Glucokinase Regulatory Protein. GO annotations related to this gene include nucleic acid binding and protein homodimerization 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. Antagonizes the inhibitory effect of ATF5 on cell proliferation and relieves ATF5-induced G2/M blockade (PubMed:22528486).

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

Promoters for NPM1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NPM1 on UCSC Golden Path with GeneCards custom track

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

Genomic Location for NPM1 Gene

Chromosome:
5
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

Genes around NPM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NPM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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). Interacts with DDX31; this interaction prevents interaction between NPM1 and HDM2 (PubMed:23019224).

    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 Lys 27, Lys 80, Lys 250, and Lys 273
  • 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 & Families 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 :
  • Belongs to the nucleoplasmin family.
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. Antagonizes the inhibitory effect of ATF5 on cell proliferation and relieves ATF5-induced G2/M blockade (PubMed:22528486).

Gene Ontology (GO) - Molecular Function for NPM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 12058066
GO:0004860 protein kinase inhibitor activity IDA 12882984
GO:0005515 protein binding IPI 12080348
GO:0042803 protein homodimerization activity IDA 9121481
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with NPM1: view
genes like me logo Genes that share phenotypes with NPM1: view

Human Phenotype Ontology for NPM1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NPM1 Gene

MGI Knock Outs for NPM1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
cytosol 5
nucleus 5
extracellular 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for NPM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031616 spindle pole centrosome IDA 16041368
genes like me logo Genes that share ontologies with NPM1: view

Pathways & Interactions for NPM1 Gene

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

SIGNOR curated interactions for NPM1 Gene

Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for NPM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007098 centrosome cycle ISS --
GO:0007569 cell aging ISS --
GO:0008104 protein localization IDA 18420587
GO:0016032 viral process IEA,TAS --
GO:0032071 regulation of endodeoxyribonuclease activity IDA 19188445
genes like me logo Genes that share ontologies with NPM1: view

Drugs & Compounds for NPM1 Gene

(19) Drugs for NPM1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(25) Additional Compounds for NPM1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

Inhibitory RNA 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

Protein differential expression in normal tissues from HIPED for NPM1 Gene

This gene is overexpressed in Amniocyte (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with NPM1: view

Protein tissue co-expression partners for NPM1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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

(3) 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
rs1059404 -- 171,410,601(+) TTTCC(A/G)TCTTA utr-variant-3-prime
rs1059683 -- 171,410,812(+) GTAGC(A/G)GTGGT utr-variant-3-prime
rs4130071 -- 171,398,172(-) gttaa(A/G)taaca intron-variant
rs3209214 -- 171,410,588(+) TTTGT(A/T)AAAAA utr-variant-3-prime
rs3830032 -- 171,391,893(+) GTACT(A/G)CTGTC 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

Variation tolerance for NPM1 Gene

Residual Variation Intolerance Score: 26.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.36; 7.97% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(28) MalaCards diseases for NPM1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leukemia, acute myeloid
  • leukemia, acute myeloid, somatic
lymphomatoid papulosis
  • lyp
primary cutaneous anaplastic large cell lymphoma
  • primary c-alcl
acute myeloid leukemia with npm1 somatic mutations
  • aml with npm1 somatic mutations
acute myeloblastic leukemia without maturation
  • acute myeloblastic leukemia m1
- elite association - COSMIC cancer census association via MalaCards
Search NPM1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NPM_HUMAN
  • Note=A chromosomal aberration involving NPM1 is a cause of myelodysplastic syndrome (MDS). Translocation t(3;5)(q25.1;q34) with MLF1. {ECO:0000269 PubMed:8570204}.
  • Note=A chromosomal aberration involving NPM1 is found in a form of acute promyelocytic leukemia. Translocation t(5;17)(q32;q11) with RARA. {ECO:0000269 PubMed:8562957}.
  • 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. {ECO:0000269 PubMed:8122112, ECO:0000269 PubMed:8633037}.
  • 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. {ECO:0000269 PubMed:15659725}.

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 67
  2. Cytoplasmic expression of nucleophosmin accurately predicts mutation in the nucleophosmin gene in patients with acute myeloid leukemia and normal karyotype. (PMID: 20023256) Luo J. … Chang H. (Am. J. Clin. Pathol. 2010) 3 23
  3. Acute myeloid leukemia with mutated nucleophosmin (NPM1): molecular, pathological, and clinical features. (PMID: 20306250) Falini B. (Cancer Treat. Res. 2010) 3 23
  4. Nucleophosmin mutations in Chinese adults with acute myelogenous leukemia. (PMID: 18726096) Ruan G.R. … Huang X.J. (Ann. Hematol. 2009) 3 23
  5. A dose-dependent tug of war involving the NPM1 leukaemic mutant, nucleophosmin, and ARF. (PMID: 19005479) Bolli N. … Falini B. (Leukemia 2009) 3 23

Products for NPM1 Gene

Sources for NPM1 Gene

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