RBBP8

Retinoblastoma-binding protein 8 is a protein that in humans is encoded by the RBBP8 gene.^[5][6][7]

RBBP8
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2L4Z, 4D2H
Identifiers
Aliases	RBBP8, COM1, CTIP, JWDS, RIM, SAE2, SCKL2, retinoblastoma binding protein 8, RB binding protein 8, endonuclease
External IDs	OMIM: 604124; MGI: 2442995; HomoloGene: 28546; GeneCards: RBBP8; OMA:RBBP8 - orthologs
Gene location (Human) Chr. Chromosome 18 (human)[1] Band 18q11.2 Start 22,798,261 bp[1] End 23,026,488 bp[1]
Gene location (Mouse) Chr. Chromosome 18 (mouse)[2] Band 18|18 A1 Start 11,766,333 bp[2] End 11,878,278 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Epithelium of choroid plexus gonad testicle kidney tubule caput epididymis epithelium of lactiferous gland skin of hip lactiferous duct ventricular zone islet of Langerhans Top expressed in genital tubercle tail of embryo vestibular sensory epithelium zygote urothelium medullary collecting duct primitive streak spermatocyte secondary oocyte transitional epithelium of urinary bladder More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nuclease activity hydrolase activity endonuclease activity transcription corepressor activity damaged DNA binding DNA binding protein binding single-stranded DNA endodeoxyribonuclease activity identical protein binding Y-form DNA binding double-strand/single-strand DNA junction binding double-stranded DNA binding single-stranded DNA binding flap-structured DNA binding Cellular component transcription repressor complex chromosome nucleus nucleoplasm intracellular membrane-bounded organelle site of double-strand break Biological process cell cycle DNA repair nucleotide-excision repair cell division nucleic acid phosphodiester bond hydrolysis response to estradiol meiosis regulation of transcription by RNA polymerase II cellular response to DNA damage stimulus blastocyst hatching DNA double-strand break processing DNA replication DNA double-strand break processing involved in repair via single-strand annealing negative regulation of transcription by RNA polymerase II double-strand break repair via homologous recombination negative regulation of G0 to G1 transition negative regulation of nucleic acid-templated transcription G1/S transition of mitotic cell cycle regulation of signal transduction by p53 class mediator Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5932 225182 Ensembl ENSG00000101773 ENSMUSG00000041238 UniProt Q99708 Q80YR6 RefSeq (mRNA) NM_002894 NM_203291 NM_203292 NM_001081223 NM_001252495 NM_175458 RefSeq (protein) NP_002885 NP_976036 NP_976037 NP_002885.1 NP_976036.1 NP_001074692 NP_001239424 Location (UCSC) Chr 18: 22.8 – 23.03 Mb Chr 18: 11.77 – 11.88 Mb PubMed search [3] [4]
Wikidata
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Function

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.^[7]

DNA repair

RBBP8 is involved in the DNA repair process of homologous recombination.^[8] It was proposed that, in gastric cancer cells, inhibition of RBBP8 expression could cause a synthetic lethal effect along with PARP inhibitor treatment.^[8]

Interactions

RBBP8 has been shown to interact with:

• ATM,^[9][10]
• BRCA1,^{[9][11][12][13][14][15][16]}
• CTBP1,^[11][17]
• LMO4,^[18][19]
• RB1,^[5][20]
• RBL1,^[5][21]
• RBL2,^[5][22] and
• SIAH1^[23]