PBRM1 Gene Summary [Human]
This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcriptional activation by nuclear hormone receptors. Mutations at this locus have been associated with primary clear cell renal cell carcinoma. [provided by RefSeq, Feb 2012]
Details
| Type | Protein Coding |
| Official Symbol | PBRM1 |
| Official Name | polybromo 1 [Source:HGNC Symbol;Acc:HGNC:30064] |
| Ensembl ID | ENSG00000163939 |
| Bio databases IDs | |
| Aliases | polybromo 1 |
| Synonyms | 2610016F04Rik, BAF180, PB1, polybromo 1, RCC, RGD1565549, SMARCH1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PBRM1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- BAH
- BAH domain
- high mobility group (HMG)-box domain superfamily
- HMG (high mobility group) box
- HMG-box domain
- high mobility group
- chromatin binding
- protein binding
- Bromodomain
Pathways
Biological processes and signaling networks where the PBRM1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- epithelial neoplasia
- cancer
- digestive system cancer
- hypertension
- non-insulin-dependent diabetes mellitus
- urogenital cancer
- neoplasia
- myocardial infarction
- liver cancer
role in cell
- expression in
- proliferation
- phosphorylation in
- migration
- invasion by
- differentiation
- survival
- development
- colony formation
- replicative senescence
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- nucleoplasm
- kinetochores
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PBRM1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of mitotic metaphase/anaphase transition
- negative regulation of cell proliferation
- positive regulation of cell differentiation
- positive regulation of myoblast differentiation
- regulation of nucleotide-excision repair
- mitotic cell cycle
- transcription elongation from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
- chromatin remodeling
- positive regulation of T cell differentiation
- regulation of G1/S transition of mitotic cell cycle
- positive regulation of double-strand break repair
- regulation of G0 to G1 transition
Cellular Component
Where in the cell the gene product is active
- nucleus
- SWI/SNF complex
- nuclear matrix
- nuclear chromosome
- kinetochore
- RSC complex
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- protein binding
- chromatin binding