Aliases for RBBP5 Gene
External Ids for RBBP5 Gene
Previous GeneCards Identifiers for RBBP5 Gene
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]
GeneCards Summary for RBBP5 Gene
RBBP5 (RB Binding Protein 5, Histone Lysine Methyltransferase Complex Subunit) is a Protein Coding gene. Diseases associated with RBBP5 include Retinoblastoma and Kabuki Syndrome 1. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Chromatin organization. Gene Ontology (GO) annotations related to this gene include transcription regulatory region DNA binding and histone methyltransferase activity (H3-K4 specific). An important paralog of this gene is VPS8.
UniProtKB/Swiss-Prot Summary for RBBP5 Gene
In embryonic stem (ES) cells, plays a crucial role in the differentiation potential, particularly along the neural lineage, regulating gene induction and H3 'Lys-4' methylation at key developmental loci, including that mediated by retinoic acid (By similarity). Does not affect ES cell self-renewal (By similarity). Component or associated component of some histone methyltransferase complexes which regulates transcription through recruitment of those complexes to gene promoters (PubMed:19131338). As part of the MLL1/MLL complex, involved in mono-, di- and trimethylation at 'Lys-4' of histone H3 (PubMed:19556245). Histone H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation (PubMed:19556245). In association with ASH2L and WDR5, stimulates the histone methyltransferase activities of KMT2A, KMT2B, KMT2C, KMT2D, SETD1A and SETD1B (PubMed:22266653, PubMed:21220120).