Rabbit anti-Human RBBP8 Polyclonal Antibody

Uniprot Id

Q99708

Target Species

Human

Target Name

RBBP8

Target Full Name

DNA endonuclease RBBP8

Target Function

Endonuclease that cooperates with the MRE11-RAD50-NBN (MRN) complex in DNA-end resection, the first step of double-strand break (DSB) repair through the homologous recombination (HR) pathway. HR is restricted to S and G2 phases of the cell cycle and preferentially repairs DSBs resulting from replication fork collapse. Key determinant of DSB repair pathway choice, as it commits cells to HR by preventing classical non-homologous end-joining (NHEJ). 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. During immunoglobulin heavy chain class-switch recombination, promotes microhomology-mediated alternative end joining (A-NHEJ) and plays an essential role in chromosomal translocations.

Target Involvement

Seckel syndrome 2 (SCKL2); Jawad syndrome (JWDS)

Target Subcellular Location

Nucleus. Chromosome.

Target Protein Families

COM1/SAE2/CtIP family

Target Tissue Specificity

Expressed in ER-positive breast cancer lines, but tends to be down-regulated ER-negative cells (at protein level).

Target Synonyms

COM1; COM1_HUMAN; CtBP interacting protein; CtBP-interacting protein; CtIP; DNA endonuclease RBBP8; JWDS; RB binding protein 8 endonuclease; RBBP-8; RBBP8; Retinoblastoma-binding protein 8; Retinoblastoma-interacting protein and myosin-like; Rim; SAE2; SCKL2; Sporulation in the absence of SPO11 protein 2 homolog

Target Background

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.