NPM1 Chromosome 5
Nucleophosmin 1
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What This Gene Does
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 ribosomal proteins and core histones from the nucleus to the cytoplasm. This protein is also known to sequester the tumor suppressor ARF in the nucleolus, protecting it from degradation until it is needed. Mutations in this gene are associated with acute myeloid leukemia. Dozens of pseudogenes of this gene have been identified. [provided by RefSeq, Aug 2017]
Associated Conditions (5)
Acute myeloid leukemia
Acute myeloid leukemia with NPM1 somatic mutations
Acute myeloid leukemia with multilineage dysplasia
Myelodysplastic syndrome progressed to acute myeloid leukemia
NPM1-related disorder
Key Variants
RS1554138188
Pathogenic
Acute myeloid leukemia, Acute myeloid leukemia, Acute myeloid leukemia
Health Risk
RS1554138189
Pathogenic
Acute myeloid leukemia, Acute myeloid leukemia with NPM1 somatic mutations, Acute myeloid leukemia
Health Risk
RS1561878500
Pathogenic
Acute myeloid leukemia, Acute myeloid leukemia
Health Risk
RS1581263026
Pathogenic
Acute myeloid leukemia with multilineage dysplasia, Acute myeloid leukemia with multilineage dysplasia
Health Risk
RS2113301331
Pathogenic
Acute myeloid leukemia, Acute myeloid leukemia
Health Risk
RS2113301391
Pathogenic
Acute myeloid leukemia, Acute myeloid leukemia
Health Risk
RS587776806
Pathogenic
Acute myeloid leukemia, Myelodysplastic syndrome progressed to acute myeloid leukemia, NPM1-related disorder
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1554138188 | Health Risk | Pathogenic | Acute myeloid leukemia, Acute myeloid leukemia, Acute myeloid leukemia |
| RS1554138189 | Health Risk | Pathogenic | Acute myeloid leukemia, Acute myeloid leukemia with NPM1 somatic mutations, Acute myeloid leukemia |
| RS1561878500 | Health Risk | Pathogenic | Acute myeloid leukemia, Acute myeloid leukemia |
| RS1581263026 | Health Risk | Pathogenic | Acute myeloid leukemia with multilineage dysplasia, Acute myeloid leukemia with multilineage dysplasia |
| RS2113301331 | Health Risk | Pathogenic | Acute myeloid leukemia, Acute myeloid leukemia |
| RS2113301391 | Health Risk | Pathogenic | Acute myeloid leukemia, Acute myeloid leukemia |
| RS587776806 | Health Risk | Pathogenic | Acute myeloid leukemia, Myelodysplastic syndrome progressed to acute myeloid leukemia, NPM1-related disorder |