BMI1 Proto-Oncogene, Polycomb Ring Finger
A key epigenetic regulator in stem cell self-renewal and oncogenesis
Gene Information Card
| Symbol | BMI1 |
|---|---|
| Full Name | BMI1 proto-oncogene, polycomb ring finger |
| Gene Type | protein-coding |
| Chromosomal Location | 10p12.2 |
| NCBI Gene ID | 648 ncbi.nlm.nih.gov/gene/648 |
| Ensembl ID | ENSG00000168283 |
| UniProt ID | P35226 |
| OMIM ID | 600831 |
| HGNC ID | 1066 |
| Aliases | PCGF4, RNF51, FLVI2/BMI1 |
Description
BMI1 (B cell-specific Moloney murine leukemia virus integration site 1) encodes a member of the Polycomb repressive complex 1 (PRC1). This protein is essential for maintaining stem cell self-renewal by repressing the INK4a/ARF locus, thereby regulating cell cycle and senescence. Overexpression of BMI1 is associated with various cancers, including leukemia, lymphoma, and solid tumors, where it promotes proliferation and inhibits apoptosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia | BMI1 overexpression drives leukemogenesis by repressing tumor suppressor genes | PMID: 15692067 |
| Breast cancer | BMI1 upregulation correlates with poor prognosis and stem cell marker expression | PMID: 19029980 |
| Colorectal cancer | BMI1 promotes tumor growth and metastasis via chromatin remodeling | PMID: 23361059 |
| Hodgkin lymphoma | BMI1 is highly expressed and contributes to cell survival | PMID: 17053056 |
| Prostate cancer | BMI1 overexpression associated with aggressive disease and recurrence | PMID: 16818647 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Spleen | 9.8 | Medium |
| Brain | 4.1 | Low |
| Heart | 2.3 | Low |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 15.3 | High expression |
| HeLa (cervical) | 8.7 | Moderate expression |
| MCF7 (breast) | 11.2 | High expression |
| HEK293 (embryonic kidney) | 6.4 | Moderate expression |
| HepG2 (liver) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Arg41Cys) | Missense | <0.1% | Unknown functional impact |
| c.456_457insG (p.Gln153fs) | Frameshift | <0.1% | Loss of function |
| c.789G>A (p.Trp263Ter) | Nonsense | <0.1% | Loss of function |
| Amplification | Copy number gain | 5-10% in various cancers | Gain of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated protein, loss of PRC1 repressive activity, and derepression of INK4a/ARF.
Gain of Function (GOF)
Gene amplification or overexpression increases PRC1 activity, enhancing stem cell self-renewal and oncogenic potential.
Dominant Negative (DN)
Not reported for BMI1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• hsa:04110 - Cell cycle
• hsa:05200 - Pathways in cancer
• hsa:05202 - Transcriptional misregulation in cancer
• hsa:05206 - MicroRNAs in cancer
• hsa:05235 - PD-L1 expression and PD-1 checkpoint pathway in cancer
Protein Summary
BMI1 is a 326-amino acid protein containing a RING finger domain and a central helix-turn-helix motif. As a core component of PRC1, it catalyzes the monoubiquitination of histone H2A at lysine 119 (H2AK119ub), leading to chromatin compaction and gene silencing. BMI1 is critical for hematopoietic and neural stem cell maintenance. Its overexpression is oncogenic, and it is a target for cancer therapy development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BMI1 Knockout HEK293 Cell Line | EDJ-KQ50157 | Human | 648 | Details Get a Quote |
| COMMD3-BMI1 Knockout HEK293 Cell Line | EDJ-KQ52502 | Human | 100532731 | Details Get a Quote |
| BMI1 Knockout HeLa Cell Line | EDJ-KQ52724 | Human | 648 | Details Get a Quote |
| COMMD3-BMI1 Knockout HeLa Cell Line | EDJ-KQ60965 | Human | 100532731 | Details Get a Quote |
| BMI1 Knockout A-549 Cell Line | EDJ-KQ61195 | Human | 648 | Details Get a Quote |
| COMMD3-BMI1 Knockout A-549 Cell Line | EDJ-KQ69440 | Human | 100532731 | Details Get a Quote |
| BMI1 Knockout HCT 116 Cell Line | EDJ-KQ69687 | Human | 648 | Details Get a Quote |
| COMMD3-BMI1 Knockout HCT 116 Cell Line | EDJ-KQ77791 | Human | 100532731 | Details Get a Quote |
