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 (Retinoblastoma Binding Protein 5) is a Protein Coding gene. Diseases associated with RBBP5 include Retinoblastoma and Kabuki Syndrome 1. Among its related pathways are Developmental Biology and Signaling by Wnt. GO annotations related to this gene include transcription regulatory region DNA binding and histone methyltransferase activity (H3-K4 specific).
UniProtKB/Swiss-Prot 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). As part of the MLL1/MLL complex, involved in mono-, di- and trimethylation at Lys-4 of histone H3. Histone H3 Lys-4 methylation represents a specific tag for epigenetic transcriptional activation.