NPM1

The information on this page was automatically extracted from online scientific databases.

What is the official name of the NPM1 gene?

The official name of this gene is “nucleophosmin (nucleolar phosphoprotein B23, numatrin).”

NPM1 is the gene's official symbol. The NPM1 gene is also known by other names, listed below.

What is the normal function of the NPM1 gene?

From Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/4869):: This gene encodes a phosphoprotein which moves between the nucleus and the cytoplasm. The gene product is thought to be involved in several processes including regulation of the ARF/p53 pathway. A number of genes are fusion partners have been characterized, in particular the anaplastic lymphoma kinase gene on chromosome 2. Mutations in this gene are associated with acute myeloid leukemia. More than a dozen pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Nov 2009]
From UniProt (http://www.uniprot.org/uniprot/P06748):: 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 ribosome nuclear export. Associated with nucleolar ribonucleoprotein structures and bind single-stranded nucleic acids. Acts as a chaperonin for the core histones H3, H2B and H4. Stimulates APEX1 endonuclease activity on apurinic/apyrimidinic (AP) double-stranded DNA but inhibits APEX1 endonuclease activity on AP single-stranded RNA. May exert a control of APEX1 endonuclease activity within nucleoli devoted to repair AP on rDNA and the removal of oxidized rRNA molecules. In concert with BRCA2, regulates centrosome duplication. Regulates centriole duplication: phosphorylation by PLK2 is able to trigger centriole replication.

How are changes in the NPM1 gene related to health conditions?

Genetics Home Reference provides information about acute promyelocytic leukemia, which is associated with changes in the NPM1 gene.

UniProt (http://www.uniprot.org/uniprot/P06748) provides the following information about the NPM1 gene's known or predicted involvement in human disease.

Note=A chromosomal aberration involving NPM1 is found in a form of non-Hodgkin lymphoma. Translocation t(2;5)(p23;q35) with ALK. The resulting chimeric NPM1-ALK protein homodimerize and the kinase becomes constitutively activated.

Note=A chromosomal aberration involving NPM1 is found in a form of acute promyelocytic leukemia. Translocation t(5;17)(q32;q11) with RARA.

Note=A chromosomal aberration involving NPM1 is a cause of myelodysplastic syndrome (MDS). Translocation t(3;5)(q25.1;q34) with MLF1.

Note=Defects in NPM1 are associated with acute myelogenous leukemia (AML). Mutations in exon 12 affecting the C-terminus of the protein are associated with an aberrant cytoplasmic location.

Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/4869) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the NPM1 gene.

AML - Acute myeloid leukemia^[1]

UniProt and Entrez Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.

	Article Number	Main Topic
[1]	601626 (http://omim.org/entry/601626)	LEUKEMIA, ACUTE MYELOID
	164040 (http://omim.org/entry/164040)	NUCLEOPHOSMIN/NUCLEOPLASMIN FAMILY, MEMBER 1

Where is the NPM1 gene located?

Cytogenetic Location: 5q35.1

Molecular Location on chromosome 5: base pairs 170,814,707 to 170,837,887

The NPM1 gene is located on the long (q) arm of chromosome 5 at position 35.1.

More precisely, the NPM1 gene is located from base pair 170,814,707 to base pair 170,837,887 on chromosome 5.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about NPM1?

You may also be interested in these resources, which are designed for genetics professionals and researchers.

OMIM - Genetic disorder catalog
- NUCLEOPHOSMIN/NUCLEOPLASMIN FAMILY, MEMBER 1 (http://omim.org/entry/164040)
- LEUKEMIA, ACUTE MYELOID (http://omim.org/entry/601626)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/NPM1.html)
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/4869)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id=4869&id_type=entrezgene)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=7910)
- UniProt (http://www.uniprot.org/uniprot/P06748)

What other names do people use for the NPM1 gene or gene products?

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding NPM1?

acids ; acute ; acute myelogenous leukemia ; acute myeloid leukemia ; alternative splicing ; AML ; cell ; cell proliferation ; centriole ; centrosome ; chromosome ; cytoplasm ; DNA ; duplication ; endonuclease ; exon ; gene ; gene product ; histone ; kinase ; leukemia ; lymphoma ; myelodysplastic syndrome ; myelogenous ; myeloid ; nucleus ; phosphoprotein ; phosphorylation ; proliferation ; protein ; rDNA ; RNA ; splicing ; syndrome ; transcript ; translocation ; tumor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.



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