Gene Gene information from NCBI Gene database.
Entrez ID 4869
Gene name Nucleophosmin 1
Gene symbol NPM1
Synonyms (NCBI Gene)
B23NPM
Chromosome 5
Chromosome location 5q35.1
Summary 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 ribos
SNPs SNP information provided by dbSNP.
6
SNP ID Visualize variation Clinical significance Consequence
rs587776806 ->TCTG Pathogenic Non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs1057519744 ->CATG,CCTG,TCAG,TCTG Likely-pathogenic Genic downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1554138188 ->CATG,CGTG Pathogenic Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1554138189 ->CCTG Pathogenic Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1561878500 GGAGGAA>CCCTGGCTAGG Pathogenic Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
258
miRTarBase ID miRNA Experiments Reference
MIRT050209 hsa-miR-25-3p CLASH 23622248
MIRT049162 hsa-miR-92a-3p CLASH 23622248
MIRT049162 hsa-miR-92a-3p CLASH 23622248
MIRT048875 hsa-miR-93-5p CLASH 23622248
MIRT046385 hsa-miR-15b-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
123
GO ID Ontology Definition Evidence Reference
GO:0000055 Process Ribosomal large subunit export from nucleus IBA
GO:0000055 Process Ribosomal large subunit export from nucleus IEA
GO:0000056 Process Ribosomal small subunit export from nucleus IBA
GO:0000056 Process Ribosomal small subunit export from nucleus IEA
GO:0001046 Function Core promoter sequence-specific DNA binding IDA 19160485
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
164040 7910 ENSG00000181163
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P06748
Protein name Nucleophosmin (NPM) (Nucleolar phosphoprotein B23) (Nucleolar protein NO38) (Numatrin)
Protein 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 ribos
PDB 2LLH , 2P1B , 2VXD , 5EHD , 7OBG , 7OBH , 8AH2 , 8AS5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03066 Nucleoplasmin 18 117 Nucleoplasmin/nucleophosmin domain Domain
PF16276 NPM1-C 245 293 Nucleophosmin C-terminal domain Domain
Sequence
MEDSMDMDMSPLRPQNYLFGCELKADKDYHFKVDNDENEHQLSLRTVSLGAGAKDELHIV
EAEAMNYEGSPIKVTLATLKMSVQPTVSLGGFEITPPVVLRLKCGSGPVHISGQHLV
AVE
EDAESEDEEEEDVKLLSISGKRSAPGGGSKVPQKKVKLAADEDDDDDDEEDDDEDDDDDD
FDDEEAEEKAPVKKSIRDTPAKNAQKSNQNGKDSKPSSTPRSKGQESFKKQEKTPKTPKG
PSSVEDIKAKMQASIEKGGSLPKVEAKFINYVKNCFRMTDQEAIQDLWQWRKSL
Sequence length 294
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Nuclear import of Rev protein
SUMOylation of transcription cofactors
Deposition of new CENPA-containing nucleosomes at the centromere
TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain
TFAP2A acts as a transcriptional repressor during retinoic acid induced cell differentiation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
41
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Pathogenic rs2113301391, rs2113301331, rs587776806, rs1554138188, rs1554138189, rs1561878500 RCV002277721
RCV002277742
RCV000015035
RCV000015036
RCV000015037
RCV000015038
RCV000779592
Acute myeloid leukemia with multilineage dysplasia Pathogenic rs1581263026 RCV000999466
Acute myeloid leukemia with NPM1 somatic mutations Pathogenic rs1554138189 RCV006253623
Myelodysplastic syndrome progressed to acute myeloid leukemia Pathogenic rs587776806 RCV000203461
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cholangiocarcinoma Benign rs60056043 RCV005921949
Colon adenocarcinoma Benign rs34323200 RCV005871414
Familial cancer of breast Benign rs60056043 RCV005921945
Gastric cancer Benign rs34323200 RCV005871415
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 26315110, 32671956
Adenocarcinoma of Lung Associate 32671956, 34335635
Adrenocortical Carcinoma Associate 36793283
Alzheimer Disease Associate 26512942
Anemia Associate 36959701
Aneuploidy Associate 26123729
Arthritis Rheumatoid Inhibit 15589822
Ascites Associate 35208587
Asthma Associate 35751199
Ataxia Telangiectasia Associate 16170336