NPM1 gene

GPTKB entity

Statements (51)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alias gptkb:Nucleophosmin
B23
NO38
gptkbp:alternativeSplicing yes
gptkbp:associatedWith gptkb:acute_myeloid_leukemia
myelodysplastic syndrome
solid tumors
gptkbp:clinicalTrialPhase NPM1 mutation analysis for AML diagnosis
gptkbp:discoveredBy K. Chan et al.
gptkbp:discoveredIn 1989
gptkbp:encodes nucleophosmin protein
gptkbp:Entrez_Gene_ID 4869
ENSG00000181163
gptkbp:fullName Nucleophosmin 1
gptkbp:function ribosome biogenesis
nucleolar organization
regulation of ARF tumor suppressor
gptkbp:geneType protein-coding
gptkbp:HGNC_ID HGNC:7910
https://www.w3.org/2000/01/rdf-schema#label NPM1 gene
gptkbp:interactsWith gptkb:p53_protein
ribosomal proteins
ARF protein
HDM2 protein
gptkbp:length 294 amino acids
gptkbp:locatedOnChromosome gptkb:chromosome_5
5q35.1
gptkbp:mutationAssociatedWith gptkb:acute_myeloid_leukemia
frameshift mutation
insertion mutation
gptkbp:OMIM 164040
gptkbp:organism gptkb:Homo_sapiens
gptkbp:orthologInMouse Npm1
gptkbp:pathway cell cycle regulation
p53 signaling pathway
ribosome biogenesis pathway
gptkbp:proteinFamily oligomerization domain
nuclear localization signal
acidic stretches
nucleic acid binding domain
nucleophosmin/nucleoplasmin family
gptkbp:subcellularLocation nucleolus
nucleoplasm
cytoplasm (in mutated form)
cytoplasm (mutant)
gptkbp:tissue_specificity ubiquitous
gptkbp:UniProtID P06748
gptkbp:bfsParent gptkb:NPM1_mutation
gptkb:NPM1
gptkbp:bfsLayer 6