COMMD3-BMI1 readthrough
A readthrough transcript encoding a fusion protein with potential roles in chromatin remodeling and cancer
Gene Information Card
| Symbol | COMMD3-BMI1 |
|---|---|
| Full Name | COMMD3-BMI1 readthrough |
| Gene Type | Readthrough (fusion transcript) |
| Chromosomal Location | 10p12.31 |
| NCBI Gene ID | 100532736 ncbi.nlm.nih.gov/gene/100532736 |
| Ensembl ID | ENSG00000269335 |
| UniProt ID | Not available (readthrough transcript) |
| OMIM ID | Not available |
| HGNC ID | HGNC:40080 |
| Aliases | BMI1-COMMD3, COMMD3-BMI1 fusion |
Description
COMMD3-BMI1 is a readthrough gene located on chromosome 10p12.31 that produces a transcript fusing the 5' part of COMMD3 (COMM domain containing 3) with the 3' part of BMI1 (polycomb ring finger oncogene). This readthrough transcript is predicted to encode a protein that combines the N-terminal COMM domain from COMMD3 with the C-terminal RING finger and polycomb repressive complex 1 (PRC1) domains from BMI1. The fusion may alter normal BMI1 function in chromatin remodeling and has been implicated in various cancers, though functional studies are limited.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Potential oncogenic fusion altering BMI1-mediated PRC1 activity | Limited; inferred from BMI1 and COMMD3 roles in cancer |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.8 | Low |
| Bone marrow | 0.5 | Low |
| Lymph node | 0.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 0.3 | Low expression |
| HeLa | 0.2 | Low expression |
| A549 | 0.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Not reported | N/A | N/A | No specific mutations documented in COSMIC or ClinVar |
Mutation functional classification
Loss of Function (LOF)
Not characterized
Gain of Function (GOF)
Not characterized
Dominant Negative (DN)
Not characterized
View complete mutation data：
Protein Summary
The COMMD3-BMI1 readthrough transcript is predicted to produce a fusion protein containing the N-terminal COMM domain of COMMD3 and the C-terminal region of BMI1, including the RING finger domain essential for PRC1 E3 ubiquitin ligase activity. This fusion may alter BMI1's ability to repress transcription of target genes such as INK4a/ARF, potentially contributing to oncogenesis. However, experimental validation of the protein product and its function is lacking.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COMMD3-BMI1 Knockout HEK293 Cell Line | EDJ-KQ52502 | Human | 100532731 | Details Get a Quote |
| COMMD3-BMI1 Knockout HeLa Cell Line | EDJ-KQ60965 | Human | 100532731 | Details Get a Quote |
| COMMD3-BMI1 Knockout A-549 Cell Line | EDJ-KQ69440 | Human | 100532731 | Details Get a Quote |
| COMMD3-BMI1 Knockout HCT 116 Cell Line | EDJ-KQ77791 | Human | 100532731 | Details Get a Quote |
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