Aliases for RBBP8 Gene
External Ids for RBBP8 Gene
Previous HGNC Symbols for RBBP8 Gene
Previous GeneCards Identifiers for RBBP8 Gene
The protein encoded by this gene is a ubiquitously expressed nuclear protein. It is found among several proteins that bind directly to retinoblastoma protein, which regulates cell proliferation. This protein complexes with transcriptional co-repressor CTBP. It is also associated with BRCA1 and is thought to modulate the functions of BRCA1 in transcriptional regulation, DNA repair, and/or cell cycle checkpoint control. It is suggested that this gene may itself be a tumor suppressor acting in the same pathway as BRCA1. Three transcript variants encoding two different isoforms have been found for this gene. More transcript variants exist, but their full-length natures have not been determined. [provided by RefSeq, Jul 2008]
GeneCards Summary for RBBP8 Gene
RBBP8 (RB Binding Protein 8, Endonuclease) is a Protein Coding gene. Diseases associated with RBBP8 include Jawad Syndrome and Seckel Syndrome 2. Among its related pathways are BARD1 signaling events and Notch-mediated HES/HEY network. GO annotations related to this gene include damaged DNA binding and RNA polymerase II transcription corepressor activity. An important paralog of this gene is RBBP8NL.
UniProtKB/Swiss-Prot for RBBP8 Gene
Endonuclease that cooperates with the MRE11-RAD50-NBN (MRN) complex in processing meiotic and mitotic double-strand breaks (DSBs) by ensuring both resection and intrachromosomal association of the broken ends. Functions downstream of the MRN complex and ATM, promotes ATR activation and its recruitment to DSBs in the S/G2 phase facilitating the generation of ssDNA. Component of the BRCA1-RBBP8 complex that regulates CHEK1 activation and controls cell cycle G2/M checkpoints on DNA damage. Promotes microhomology-mediated alternative end joining (A-NHEJ) during class-switch recombination and plays an essential role in chromosomal translocations.