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Details of NPM1 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| NPM1 | NPM | P06748 | NPM_HUMAN | 4869
| D3DQL6
| P08693 | Q14115 |
Disease |
|---|
| Disease |
OMIM id |
| Note=A chromosomal aberration involving NPM1 is found in a form of non-Hodgkin lymphoma. Translocation t(25)(p23q35) with ALK. The resulting chimeric NPM1-ALK protein homodimerize and the kinase becomes constitutively activated. |
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Note=A chromosomal aberration involving NPM1 is found in a form of acute promyelocytic leukemia. Translocation t(517)(q32q11) with RARA. |
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Note=A chromosomal aberration involving NPM1 is a cause of myelodysplastic syndrome (MDS). Translocation t(35)(q25.1q34) with MLF1. |
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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. |
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Phenotypes
Abnormality of blood and blood-forming tissues, Abnormality of cellular immune system, Abnormality of leukocytes, Abnormality of the immune system, Acute leukemia, Acute myeloid leukemia, Age of onset, All, Autosomal dominant inheritance, Familial acute myelogenous leukemia, Hematological neoplasm, Infantile onset, Leukemia, Mode of inheritance, Neoplasm, Neoplasm by anatomical site, Onset, Onset and clinical course, Phenotypic abnormality.
Orthologs in other species |
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| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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