RB binding protein 8, endonuclease | OKDB#: 5750 |
Symbols: | RBBP8 | Species: | human | ||
Synonyms: | RIM, COM1, CTIP, JWDS, SAE2, SCKL2 | Locus: | 18q11.2 in Homo sapiens |
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OMIM
Entrez Gene
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General Comment | NCBI Summary: 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] | ||||
General function | DNA repair | ||||
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Cellular localization | Nuclear | ||||
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Ovarian function | |||||
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Expression regulated by | |||||
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Ovarian localization | Oocyte | ||||
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Follicle stages | |||||
Comment | knockout123 | ||||
Phenotypes | |||||
Mutations | 0 mutations | ||||
Genomic Region | show genomic region | ||||
Phenotypes and GWAS | show phenotypes and GWAS | ||||
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created: | April 1, 2020, 12:31 p.m. | by: |
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last update: | May 6, 2021, 2:03 p.m. | by: | hsueh email: |
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