FUNCTION: ASSOCIATED WITH NUCLEOLAR RIBONUCLEOPROTEIN STRUCTURES AND BIND SINGLE-STRANDED NUCLEIC ACIDS. IT MAY FUNCTION IN THE ASSEMBLY AND/OR TRANSPORT OF RIBOSOME. * SUBUNIT: DISULFIDE-LINKED DIMERS UNDER CERTAIN CONDITIONS. * SUBCELLULAR LOCATION: NUCLEAR. GENERALLY NUCLEOLAR, BUT IS TRANSLOCATED TO THE NUCLEOPLASM IN CASE OF SERUM STARVATION OR TREATMENT WITH ANTICANCER DRUGS. * ALTERNATIVE PRODUCTS: 2 isoforms; 1 (shown here) and 2; are produced by alternative splicing. * PTM: PHOSPHORYLATED. * DISEASE: A FORM OF NON-HODGKIN'S LYMPHOMA IS CHARACTERIZED BY A CHROMOSOMAL TRANSLOCATION T(2;5)(P23;Q35) THAT INVOLVES NPM1 AND ALK. * DISEASE: A FORM OF ACUTE PROMYELOCYTIC LEUKEMIA IS CHARACTERIZED BY A CHROMOSOMAL TRANSLOCATION T(5;17)(Q32;Q11) THAT INVOLVES NPM1 AND RARA. * DISEASE: PARTICIPATES IN A T(3;5)(Q25.1;Q34) CHROMOSOMAL TRANSLOCATION. THE PRODUCT, A NPM1-MLF1 FUSION PROTEIN, IS RESPONSIBLE FOR MYELODYSPLASTIC SYNDROME (MDS) WHICH PROGRESSES TO ACUTE MYELOID LEUKEMIA (AML). * SIMILARITY: BELONGS TO THE NUCLEOPLASMIN FAMILY. * DATABASE: NAME=Atlas Genet. Cytogenet. Oncol. Haematol.; WWW="http://www.infobiogen.fr/services/chromcancer/Genes/NPM1.html". |
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06-JAN-01
Last Update 13-Mar-03