Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4869
Gene name Gene Name - the full gene name approved by the HGNC.
Nucleophosmin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NPM1
Synonyms (NCBI Gene) Gene synonyms aliases
B23, NPM
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q35.1
Summary Summary of gene provided in NCBI Entrez 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 ribos
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000055 Process Ribosomal large subunit export from nucleus IBA 21873635
GO:0000056 Process Ribosomal small subunit export from nucleus IBA 21873635
GO:0001046 Function Core promoter sequence-specific DNA binding IDA 19160485
GO:0003682 Function Chromatin binding IBA 21873635
GO:0003713 Function Transcription coactivator activity IDA 15087454, 19160485
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
164040 7910 ENSG00000181163
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Dyskeratosis congenita Dyskeratosis Congenita, Dyskeratosis congenita rs121908092, rs121908089, rs121908090, rs121908091, rs121918543, rs121918544, rs121918545, rs1553915517, rs199422284, rs199476393, rs199422277, rs199422270, rs137854489, rs121912288, rs121912304
View all (113 more)
31570891
Dyskeratosis congenita, x-linked X-Linked Dyskeratosis Congenita rs121912293, rs137854489, rs121912292, rs121912294, rs121912295, rs121912288, rs1603429348, rs121912304, rs28936072, rs137854491, rs1569558616, rs199422252, rs121912289, rs121912297, rs1114167422
View all (2 more)
31570891
Gastric cancer Hereditary Diffuse Gastric Cancer rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802
View all (244 more)
10619186
Unknown
Disease term Disease name Evidence References Source
Dyskeratosis Congenita dyskeratosis congenita GenCC
Associations from Text Mining
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