PBRM1 (Polybromo 1) Gene
A chromatin remodeling gene frequently mutated in renal cell carcinoma and other cancers.
Gene Information Card
| Symbol | PBRM1 |
|---|---|
| Full Name | polybromo 1 |
| Gene Type | protein coding |
| Chromosomal Location | 3p21.1 |
| NCBI Gene ID | 55193 ncbi.nlm.nih.gov/gene/55193 |
| Ensembl ID | ENSG00000163939 |
| UniProt ID | Q86U86 |
| OMIM ID | 606083 |
| HGNC ID | 30064 |
| Aliases | BAF180, PB1, RCC-PB1 |
Description
PBRM1 encodes the BAF180 protein, a subunit of the PBAF chromatin-remodeling complex. BAF180 contains six bromodomains that recognize acetylated lysines on histones, facilitating chromatin remodeling and transcriptional regulation. It plays a critical role in DNA damage response, cell cycle regulation, and genomic stability. PBRM1 is frequently mutated in clear cell renal cell carcinoma (ccRCC) and other cancers, acting as a tumor suppressor.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Renal Cell Carcinoma (clear cell) | Loss-of-function mutations lead to PBAF complex dysfunction, altering chromatin accessibility and gene expression, promoting tumorigenesis. | COSMIC, ClinVar, multiple studies |
| Breast Cancer | Somatic mutations and copy number alterations may contribute to tumor progression. | COSMIC, ClinVar |
| Lung Cancer | Mutations reported, potentially affecting chromatin remodeling and gene regulation. | COSMIC |
| Endometrial Cancer | Inactivating mutations observed, suggesting tumor suppressor role. | COSMIC |
| Bladder Cancer | Mutations and deletions found, contributing to oncogenesis. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Kidney | 12.3 | Medium |
| Brain | 8.5 | Low |
| Lung | 7.9 | Low |
| Liver | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.5 | High expression |
| HeLa | 12.1 | Moderate |
| A549 | 9.8 | Moderate |
| MCF7 | 7.2 | Low |
| HepG2 | 6.5 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | ~5% in ccRCC | Truncated protein, loss of function |
| c.456_459del (p.Lys153fs) | Frameshift | ~3% in ccRCC | Loss of function |
| c.789G>A (p.Trp263*) | Nonsense | ~2% in ccRCC | Loss of function |
| c.2345A>G (p.Tyr782Cys) | Missense | ~1% in various cancers | Unknown, likely damaging |
Mutation functional classification
Loss of Function (LOF)
Most PBRM1 mutations are inactivating (nonsense, frameshift, splice site), leading to loss of BAF180 protein and impaired PBAF complex function.
Gain of Function (GOF)
No gain-of-function mutations reported; PBRM1 acts as a tumor suppressor.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by disrupting PBAF complex assembly, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • chromatin remodeling | • DNA damage response |
| • cell cycle regulation | • transcription regulation |
| • histone binding | • bromodomain binding |
Pathways
• PBAF complex pathway
• Chromatin remodeling
• DNA repair
• Cell cycle checkpoint
Protein Summary
BAF180 is a 1,689-amino acid protein with six bromodomains and two bromo-adjacent homology (BAH) domains. It is a core component of the PBAF (SWI/SNF) chromatin remodeling complex. BAF180 binds acetylated histones via bromodomains, targeting the complex to specific genomic loci to regulate gene expression. It is involved in DNA double-strand break repair, cell cycle progression, and maintenance of genomic stability. Loss of BAF180 leads to aberrant chromatin states and transcriptional dysregulation, contributing to cancer development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PBRM1 Knockout A-549 Cell Line | EDJ0001-K01 | Human | 55193 | Details Get a Quote |
| PBRM1 Knockout HEK293 Cell Line | EDJ-KQ2514 | Human | 55193 | Details Get a Quote |
| PBRM1 Knockout HeLa Cell Line | EDJ-KQ18172 | Human | 55193 | Details Get a Quote |
| PBRM1 Knockout HCT 116 Cell Line | EDJ-KQ23119 | Human | 55193 | Details Get a Quote |
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