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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
NPM1
nucleophosmin 1
Chromosome 5 Β· 5q35.1
NCBI Gene: 4869Ensembl: ENSG00000181163.14HGNC: HGNC:7910UniProt: A0A0S2Z491
1,170PubMed Papers
20Diseases
2Drugs
8Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHighly ConstrainedHub GeneOncogene
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
FDA Approved Target
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleusmacrophage differentiationcellular response to UVnegative regulation of apoptotic processcancernon-small cell lung carcinomaacute myeloid leukemianeoplasm
✦AI Summary

NPM1 (nucleophosmin 1) is the most abundant nucleolar protein that shuttles between nucleus and cytoplasm, performing diverse cellular functions critical for cell homeostasis 1. Primary functions include ribosome biogenesis and nuclear export, histone chaperoning for core histones H3, H2B, and H4, centrosome duplication regulation in cooperation with BRCA2, and DNA repair coordination 1. NPM1 negatively regulates apoptosis through inhibition of EIF2AK2/PKR autophosphorylation and antagonizes ATF5-mediated G2/M blockade, thereby promoting cell proliferation 1. The protein participates in liquid-liquid phase separation for nucleolus formation and responds to nucleolar stress 1. Clinically, NPM1 mutations represent the most common genetic lesion in adult acute myeloid leukemia (AML), occurring in approximately one-third of cases and conferring a more favorable prognosis 2. Mutant NPM1 undergoes C-terminal changes causing pathological cytoplasmic delocalization rather than normal nucleolar localization 1. NPM1-mutated AML is recognized as a distinct WHO-classified entity with unique biological features 2. Beyond AML, high NPM1 expression predicts poor survival across various human tumors through suppression of antigen presentation; mechanistically, NPM1 sequesters transcription factor IRF1 from MHC-I and MHC-II promoters, promoting immune evasion 3. Emerging therapies targeting NPM1-mutated AML include menin inhibitors and XPO1 inhibitors 2.

Sources cited
1
NPM1 is the most abundant nucleolar protein involved in ribosome biogenesis, histone chaperoning, centrosome duplication, DNA repair, nucleolus formation via liquid-liquid phase separation, and nucleolar stress response
PMID: 39690184
2
NPM1 negatively regulates apoptosis through EIF2AK2/PKR inhibition and antagonizes ATF5-mediated G2/M blockade
PMID: 39690184
3
NPM1 mutations in AML (~30-35% of adult cases) cause C-terminal changes leading to cytoplasmic delocalization; NPM1-mutated AML is a distinct WHO entity
PMID: 39690184
4
NPM1 mutations are the most common genetic lesion in adult AML (~one-third of cases) and confer more favorable prognosis; menin inhibitors and XPO1 inhibitors are emerging therapies
PMID: 32609823
5
High NPM1 expression predicts low survival in various tumors; NPM1 suppresses IRF1-mediated MHC-I and MHC-II expression by sequestering IRF1 from promoters, promoting tumor immune evasion
PMID: 39402629
Disease Associationsβ“˜20
cancerOpen Targets
0.68Moderate
non-small cell lung carcinomaOpen Targets
0.66Moderate
acute myeloid leukemiaOpen Targets
0.65Moderate
neoplasmOpen Targets
0.56Moderate
neurodegenerative diseaseOpen Targets
0.55Moderate
HIV infectionOpen Targets
0.54Moderate
dyskeratosis congenitaOpen Targets
0.51Moderate
anaplastic large cell lymphomaOpen Targets
0.41Moderate
Hodgkins lymphomaOpen Targets
0.37Weak
lymphoid neoplasmOpen Targets
0.37Weak
Lymphomatoid PapulosisOpen Targets
0.37Weak
acute myeloid leukemia with mutated NPM1Open Targets
0.37Weak
hemangioblastomaOpen Targets
0.37Weak
severe acute respiratory syndromeOpen Targets
0.37Weak
unspecified peripheral T-cell lymphomaOpen Targets
0.37Weak
acute myeloid leukemia with multilineage dysplasiaOpen Targets
0.33Weak
inflammatory myofibroblastic tumorOpen Targets
0.33Weak
hepatocellular carcinomaOpen Targets
0.32Weak
lung adenocarcinomaOpen Targets
0.31Weak
myelodysplastic syndromeOpen Targets
0.31Weak
Pathogenic Variants8
NM_002520.7(NPM1):c.869_875delinsCCCTGGCTAGG (p.Trp290fs)Pathogenic
Acute myeloid leukemia
β˜…β˜†β˜†β˜†2019β†’ Residue 290
NM_002520.7(NPM1):c.860_863dup (p.Trp288fs)Pathogenic
Acute myeloid leukemia|Myelodysplastic syndrome progressed to acute myeloid leukemia|NPM1-related disorder
β˜…β˜†β˜†β˜†2016β†’ Residue 288
NM_002520.7(NPM1):c.864_873delinsTTTAAGGATTCGTC (p.Trp288fs)Pathogenic
Acute myeloid leukemia with multilineage dysplasia
β˜†β˜†β˜†β˜†2020β†’ Residue 288
NM_002520.7(NPM1):c.863_864insCGTG (p.Trp288fs)Pathogenic
Acute myeloid leukemia
β˜†β˜†β˜†β˜†2005β†’ Residue 288
NM_002520.7(NPM1):c.863_864insCCTG (p.Trp288fs)Pathogenic
Acute myeloid leukemia|Acute myeloid leukemia with NPM1 somatic mutations
β˜†β˜†β˜†β˜†2005β†’ Residue 288
NM_002520.7(NPM1):c.863_864insCATG (p.Trp288fs)Pathogenic
Acute myeloid leukemia
β˜†β˜†β˜†β˜†2005β†’ Residue 288
NM_002520.7(NPM1):c.885A>G (p.Ter295=)Pathogenic
Acute myeloid leukemia
β˜†β˜†β˜†β˜†β†’ Residue 295
NM_002520.7(NPM1):c.875del (p.Lys292fs)Pathogenic
Acute myeloid leukemia
β˜†β˜†β˜†β˜†β†’ Residue 292
View on ClinVar β†—
Drug Targets2
CERITINIBApproved
NPM/ALK (Nucleophosmin/ALK tyrosine kinase receptor) inhibitor
CRIZOTINIBApproved
EML4-ALK inhibitor
non-small cell lung carcinoma
Related Genes
RBBP4Protein interaction100%CENPAProtein interaction100%HJURPProtein interaction100%PLK2Protein interaction100%RBBP7Protein interaction100%AGO1Protein interaction99%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
65%
Lung
37%
Heart
37%
Brain
33%
Liver
25%
Gene Interaction Network
Click a node to explore
NPM1RBBP4CENPAHJURPPLK2RBBP7AGO1
PROTEIN STRUCTURE
Preparing viewer…
PDB7OBG Β· 1.80 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.31Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.07 [0.02–0.31]
RankingsWhere NPM1 stands among ~20K protein-coding genes
  • #124of 20,598
    Most Researched1,170 Β· top 1%
  • #494of 1,025
    FDA-Approved Drug Targets2
  • #3,011of 5,498
    Most Pathogenic Variants8
  • #1,238of 17,882
    Most Constrained (LOEUF)0.31 Β· top 10%
Genes detectedNPM1
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
NPM1-mutated acute myeloid leukemia: from bench to bedside.
PMID: 32609823
Blood Β· 2020
1.00
2
Significance of NPM1 Gene Mutations in AML.
PMID: 34576201
Int J Mol Sci Β· 2021
0.90
3
Nucleophosmin: A Nucleolar Phosphoprotein Orchestrating Cellular Stress Responses.
PMID: 39120297
Cells Β· 2024
0.84
4
Nucleophosmin in Its Interaction with Ligands.
PMID: 32664415
Int J Mol Sci Β· 2020
0.82
5
NPM1 inhibits tumoral antigen presentation to promote immune evasion and tumor progression.
PMID: 39402629
J Hematol Oncol Β· 2024
0.80