NUMA1 Gene (Nuclear Mitotic Apparatus Protein 1)
Key regulator of mitotic spindle organization and nuclear architecture
Gene Information Card
| Symbol | NUMA1 |
|---|---|
| Full Name | Nuclear mitotic apparatus protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.4 |
| NCBI Gene ID | 4926 ncbi.nlm.nih.gov/gene/4926 |
| Ensembl ID | ENSG00000137497 |
| UniProt ID | Q14980 |
| OMIM ID | 164009 |
| HGNC ID | 8059 |
| Aliases | NUMA, NMP-22, NMP22 |
Description
NUMA1 encodes a large coiled-coil protein that localizes to the nucleus during interphase and to the spindle poles during mitosis. It is essential for mitotic spindle assembly, maintenance of spindle pole integrity, and post-mitotic nuclear reassembly. NUMA1 interacts with dynein/dynactin and microtubules to focus microtubule minus ends at spindle poles.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | NUMA1 overexpression correlates with poor prognosis; promotes chromosomal instability | PMID: 25691885 |
| Prostate cancer | NUMA1 upregulation associated with aggressive disease and metastasis | PMID: 23382250 |
| Acute myeloid leukemia | NUMA1-RARA fusion due to t(11;17)(q13;q21) translocation drives leukemogenesis | PMID: 14673042 |
| Hepatocellular carcinoma | NUMA1 knockdown reduces cell proliferation and induces apoptosis | PMID: 31065109 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Bone marrow | 18.2 | Medium |
| Lymph node | 15.7 | Medium |
| Brain | 12.3 | Medium |
| Liver | 8.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 32.4 | Cervical cancer cell line |
| MCF7 | 25.6 | Breast cancer cell line |
| K562 | 22.1 | Leukemia cell line |
| HEK293 | 18.9 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | 0.02% | Altered spindle pole localization |
| c.4567_4569del (p.Lys1523del) | In-frame deletion | 0.01% | Impaired dynein binding |
| NUMA1-RARA fusion | Translocation | Rare | Oncogenic fusion in AML |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations impair mitotic spindle focusing, leading to multipolar spindles and aneuploidy.
Gain of Function (GOF)
Gain-of-function mutations (e.g., overexpression) promote centrosome clustering and tumorigenesis.
Dominant Negative (DN)
Dominant-negative truncations disrupt spindle pole organization and nuclear reassembly.
View complete mutation data：
Gene Ontology (GO)
| • spindle pole (GO:0005819) | • microtubule (GO:0005874) |
| • chromosome segregation (GO:0007059) | • spindle assembly (GO:0051225) |
| • nucleus (GO:0005634) |
Pathways
• Mitotic spindle assembly (Reactome R-HSA-2500257)
• Centrosome maturation (Reactome R-HSA-380259)
• Cell cycle (KEGG hsa04110)
Protein Summary
NUMA1 is a 2115-amino acid nuclear and spindle-associated protein with an N-terminal globular head, a central coiled-coil rod domain, and a C-terminal microtubule-binding domain. It serves as a scaffold for dynein/dynactin at spindle poles and is cleaved by caspase-6 during apoptosis. The protein is also a urinary biomarker (NMP22) for bladder cancer.
Related Services
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