RBBP5 Gene Summary [Human]
This gene encodes a ubiquitously expressed nuclear protein which belongs to a highly conserved subfamily of WD-repeat proteins. The encoded protein binds directly to retinoblastoma protein, which regulates cell proliferation. It interacts preferentially with the underphosphorylated retinoblastoma protein via the E1A-binding pocket B. Three alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2010]
Details
| Type | Protein Coding |
| Official Symbol | RBBP5 |
| Official Name | RB binding protein 5, histone lysine methyltransferase complex subunit [Source:HGNC Symbol;Acc:HGNC:9888] |
| Ensembl ID | ENSG00000117222 |
| Bio databases IDs | |
| Aliases | RB binding protein 5, histone lysine methyltransferase complex subunit, SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae) |
| Synonyms | 4933411J24Rik, C330016J05, RB binding protein 5, histone lysine methyltransferase complex subunit, RBQ3, retinoblastoma binding protein 5, histone lysine methyltransferase complex subunit, SWD1 |
| 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 RBBP5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- histone binding
- transcription regulator
- WD40 repeats
- double-stranded DNA binding
- nucleic acid binding
- WD domain, G-beta repeat
- WD40
- protein binding
- sequence-specific DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- breast cancer
- metabolic syndrome X
- migraines
role in cell
- expression in
- migration
- degradation in
- accumulation in
- DNA damage response
- transactivation in
- cell-matrix adhesion
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
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RBBP5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to estrogen stimulus
- positive regulation of gene expression, epigenetic
- response to DNA damage stimulus
Cellular Component
Where in the cell the gene product is active
- Set1C/COMPASS complex
- nucleus
- histone methyltransferase complex
- nucleolus
- nucleoplasm
- MLL1 complex
Molecular Function
What the gene product does at the molecular level
- protein binding
- histone binding
- transcription regulatory region sequence-specific DNA binding