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Aliases for NPM1 Gene

Aliases for NPM1 Gene

  • Nucleophosmin 1 2 3 5
  • Nucleophosmin (Nucleolar Phosphoprotein B23, Numatrin) 2 3
  • Nucleophosmin/Nucleoplasmin Family, Member 1 2 3
  • Nucleolar Phosphoprotein B23 2 4
  • Nucleolar Protein NO38 3 4
  • Nucleophosmin 2 3
  • Numatrin 2 4
  • NPM 3 4
  • Testicular Tissue Protein Li 128 3
  • 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

  • The protein encoded by this gene is involved in several cellular processes, including centrosome duplication, protein chaperoning, and cell proliferation. The encoded phosphoprotein shuttles between the nucleolus, nucleus, and cytoplasm, chaperoning ribosomal proteins and core histones from the nucleus to the cytoplasm. This protein is also known to sequester the tumor suppressor ARF in the nucleolus, protecting it from degradation until it is needed. Mutations in this gene are associated with acute myeloid leukemia. Dozens of pseudogenes of this gene have been identified. [provided by RefSeq, Aug 2017]

CIViC summary for NPM1 Gene

  • AML with mutated NPM1 is a provisional entity in the WHO classification of AML and is recommended to be tested in patients with cytogenetically normal AML (CN-AML). FLT3 mutations should be evaluated concurrently as they have prognostic consequences. NPM1 mutations are concentrated in exon 12, most frequently W288fs which results in cytoplasmic sequestration of the protein. Exon 12 NPM1 mutations in the absence of FLT3-ITD are associated with good prognostic outcomes. Mice expressing the Npm1-W288fs mutation develop myeloproliferative neoplasms but not overt leukemia, indicating it may require additional mutations to promote leukemic development.

GeneCards Summary for NPM1 Gene

NPM1 (Nucleophosmin 1) is a Protein Coding gene. Diseases associated with NPM1 include Lymphomatoid Papulosis and Primary Cutaneous Anaplastic Large Cell Lymphoma. Among its related pathways are Gene Expression and Cell Cycle, Mitotic. Gene Ontology (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). In complex with MYC enhances the transcription of MYC target genes (PubMed:25956029).

Gene Wiki entry for NPM1 Gene

Additional gene information 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

GeneHancer (GH) Regulatory Elements for NPM1 Gene

Promoters and enhancers for NPM1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J171386 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 664.3 +1.9 1866 4.7 HDGF CLOCK SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B NPM1 GC05P171389 GC05P171388 KLF3P1 SMIM23 EFCAB9 MIR3912 FGF18
GH05J172172 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 33.2 +794.1 794114 18.1 YBX1 IRF4 YY1 SLC30A9 ZNF213 ZNF143 SP3 NFYC SSRP1 ZNF610 STK10 NPM1 UBTD2 SH3PXD2B CREBRF ENSG00000212529 EFCAB9 GC05P172016
GH05J172274 Enhancer 1.4 FANTOM5 Ensembl ENCODE 35.5 +888.6 888571 2.5 PKNOX1 FOXA2 KLF17 KLF5 BRCA1 THRB ZEB1 ZNF366 ZSCAN5C ZNF143 NPM1 SH3PXD2B UBTD2 CREBRF EFCAB9 ENSG00000212529 RPL10P8 STK10 DUSP1 KLF3P1
GH05J172004 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 13.6 +620.2 620245 5.7 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF263 FBXW11 NPM1 UBTD2 SH3PXD2B STK10 GC05P172013
GH05J172360 Enhancer 1.4 FANTOM5 Ensembl ENCODE 21.6 +974.8 974843 2.3 BATF IRF4 ZNF335 ZNF366 ZNF350 ZNF548 FOS ATF7 ETV6 BCLAF1 PIR48158 SH3PXD2B NPM1 CREBRF UBTD2 STK10 DUSP1 PIR48190
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NPM1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NPM1 gene promoter:
  • AP-1
  • STAT3

Genomic Locations for NPM1 Gene

Genomic Locations for NPM1 Gene
chr5:171,387,116-171,411,137
(GRCh38/hg38)
Size:
24,022 bases
Orientation:
Plus strand
chr5:170,814,120-170,838,141
(GRCh37/hg19)
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 (By similarity). Disulfide-linked dimers under certain conditions (PubMed:25818168). 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). Interacts with MYC; competitive with NOP53 (PubMed:25956029). Interacts with NOP53; the interaction is direct and competitive with MYC (PubMed:25956029). Interacts with LRRC34 (By similarity). Interacts with RRP1B (PubMed:19710015, PubMed:20926688).

    Three dimensional structures from OCA and Proteopedia for NPM1 Gene

    Alternative splice isoforms for NPM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NPM1 Gene

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.
  • Ubiquitinated. Ubiquitination leads to proteasomal degradation. Deubiquitinated by USP36 (PubMed:19208757).
  • Ubiquitination at Lys273, isoforms=2, 3250, isoforms=2, 380, and Lys27
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for NPM1 Gene

Domains & Families for NPM1 Gene

Gene Families for NPM1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

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

Function for NPM1 Gene

Molecular function for NPM1 Gene

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). In complex with MYC enhances the transcription of MYC target genes (PubMed:25956029).
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

Phenotypes From GWAS Catalog for NPM1 Gene

Gene Ontology (GO) - Molecular Function for NPM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001047 core promoter binding IDA 19160485
GO:0003676 nucleic acid binding IEA --
GO:0003682 chromatin binding IBA --
GO:0003713 transcription coactivator activity IDA 15087454
GO:0003723 RNA binding IEA,IDA 12058066
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

  • Taconic Biosciences Mouse Models for NPM1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NPM1

Clone Products

  • Addgene plasmids for NPM1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NPM1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 1
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (4)
  • Nucleus (3)
See all subcellular structures

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 IEA,IDA 11420665
GO:0005737 cytoplasm ISS --
GO:0005813 centrosome ISS --
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:0000055 ribosomal large subunit export from nucleus IBA --
GO:0000056 ribosomal small subunit export from nucleus IBA --
GO:0006281 DNA repair IDA 19188445
GO:0006334 nucleosome assembly IDA 11602260
GO:0006338 chromatin remodeling IBA --
genes like me logo Genes that share ontologies with NPM1: view

Drugs & Compounds for NPM1 Gene

(23) Drugs for NPM1 Gene - From: DrugBank, PharmGKB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dihydroartemisinin Approved, Investigational Pharma Target, ligand 100
midostaurin Approved, Investigational Pharma Kinase Inhibitors 0

(23) 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:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NPM1

Clone Products

  • Addgene plasmids for NPM1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for NPM1 Gene



Protein tissue co-expression partners for NPM1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NPM1 Gene:

NPM1

SOURCE GeneReport for Unigene cluster for NPM1 Gene:

Hs.557550

Evidence on tissue expression from TISSUES for NPM1 Gene

  • Liver(4.9)
  • Skin(4.9)
  • Nervous system(4.9)
  • Bone marrow(4.8)
  • Lung(4.8)
  • Intestine(4.6)
  • Kidney(4.6)
  • Blood(4.5)
  • Eye(4.5)
  • Pancreas(4.4)
  • Bone(4)
  • Stomach(4)
  • Muscle(3.9)
  • Lymph node(3.7)
  • Heart(3.5)
  • Spleen(3.5)
  • Adrenal gland(3.3)
  • Gall bladder(3.3)
  • Thyroid gland(3.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NPM1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • lymphatic
Regions:
General:
  • blood
  • blood vessel
  • bone marrow
  • lymph node
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with NPM1: view

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
chimpanzee
(Pan troglodytes)
Mammalia NPM1 34 33
  • 99.66 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NPM1 34 33
  • 94.88 (n)
OneToOne
cow
(Bos Taurus)
Mammalia -- 34
  • 93 (a)
OneToMany
NPM1 34 33
  • 92.72 (n)
OneToMany
mouse
(Mus musculus)
Mammalia Gm5611 34
  • 92 (a)
OneToMany
Npm1 16 33
  • 91.1 (n)
rat
(Rattus norvegicus)
Mammalia Npm1 33
  • 91.1 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 88 (a)
OneToMany
-- 34
  • 81 (a)
OneToMany
-- 34
  • 22 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia NPM1 34
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves NPM1 34 33
  • 71.84 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NPM1 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia npm1 33
  • 67.12 (n)
MGC75688 33
zebrafish
(Danio rerio)
Actinopterygii npm1a 34 33
  • 59.31 (n)
OneToOne
Species where no ortholog for NPM1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for NPM1: view image

Paralogs for NPM1 Gene

Paralogs for NPM1 Gene

(3) SIMAP similar genes for NPM1 Gene using alignment to 6 proteins:

  • NPM_HUMAN
  • A4ZU86_HUMAN
  • B1PHD4_HUMAN
  • E5RGW4_HUMAN
  • E5RI98_HUMAN
  • Q9BTI9_HUMAN
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 Variation AA Info Type
rs1057519744 likely-pathogenic, Acute myeloid leukemia 171,410,543(+) /CATG/CCTG/TCAG/TCTG coding_sequence_variant, frameshift, genic_downstream_transcript_variant, non_coding_transcript_variant
rs587776806 pathogenic, Acute myeloid leukemia, Myelodysplastic syndrome progressed to acute myeloid leukemia 171,410,540(+) TCTG/TCTGTCTG coding_sequence_variant, frameshift, genic_downstream_transcript_variant, non_coding_transcript_variant
rs375558588 not-provided, not specified 171,392,785(+) C/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs587777962 not-provided, not specified 171,387,948(+) G/C/T 5_prime_UTR_variant, non_coding_transcript_variant
rs587778580 not-provided, not specified 171,392,719(+) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
nsv508387 CNV deletion 20534489
nsv823347 CNV gain 20364138
nsv830551 CNV loss 17160897
nsv830552 CNV gain 17160897
nsv968270 CNV duplication 23825009
nsv980752 CNV duplication 23825009

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)

Additional Variant Information for NPM1 Gene

Human Gene Mutation Database (HGMD)
NPM1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NPM1

SNP Genotyping and Copy Number Assay Products

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

Disorders for NPM1 Gene

MalaCards: The human disease database

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

- 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 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=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 a cause of myelodysplastic syndrome (MDS). Translocation t(3;5)(q25.1;q34) with MLF1. {ECO:0000269 PubMed:8570204}.
  • 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)

Additional Disease Information for NPM1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Tumor Gene Database
(TGDB)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NPM1: view

Publications for NPM1 Gene

  1. 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 (American journal of clinical pathology 2010) 3 22 44 58
  2. Nucleophosmin mutations in Chinese adults with acute myelogenous leukemia. (PMID: 18726096) Ruan GR … Huang XJ (Annals of hematology 2009) 3 22 44 58
  3. Favorable prognostic impact of NPM1 gene mutations in childhood acute myeloid leukemia, with emphasis on cytogenetically normal AML. (PMID: 19020547) Hollink IH … Thiede C (Leukemia 2009) 3 22 44 58
  4. APE1/Ref-1 interacts with NPM1 within nucleoli and plays a role in the rRNA quality control process. (PMID: 19188445) Vascotto C … Tell G (Molecular and cellular biology 2009) 3 4 22 58
  5. [Analysis of NPM1 gene mutations in acute myeloid leukemia]. (PMID: 19379554) Dai D … Li JY (Zhongguo shi yan xue ye xue za zhi 2009) 3 22 44 58

Products for NPM1 Gene

  • Addgene plasmids for NPM1

Sources for NPM1 Gene

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