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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
18
Cytoband
q11.2
Chromosome location (bp)
22798261 - 23026488
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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 1,2,3,4,5,6,7,8,9. HR is restricted to S and G2 phases of the cell cycle and preferentially repairs DSBs resulting from replication fork collapse 10,11,12,13,14,15. Key determinant of DSB repair pathway choice, as it commits cells to HR by preventing classical non-homologous end-joining (NHEJ) 16. Specifically promotes the endonuclease activity of the MRN complex to clear DNA ends containing protein adducts: recruited to DSBs by NBN following phosphorylation by CDK1, and promotes the endonuclease activity of MRE11 to clear protein-DNA adducts and generate clean double-strand break ends 17,18,19,20. 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 21,22,23,24. Component of the BRCA1-RBBP8 complex that regulates CHEK1 activation and controls cell cycle G2/M checkpoints on DNA damage 25,26. During immunoglobulin heavy chain class-switch recombination, promotes microhomology-mediated alternative end joining (A-NHEJ) and plays an essential role in chromosomal translocations (By similarity). Binds preferentially to DNA Y-junctions and to DNA substrates with blocked ends and promotes intermolecular DNA bridging 27....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
DNA-binding, Endonuclease, Hydrolase, Nuclease
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Cell cycle, Cell division, DNA damage, DNA repair, Meiosis, Mitosis
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
A0A024RC34 [Target identity:100%; Query identity:100%] DNA endonuclease RBBP8
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000014[single-stranded DNA endodeoxyribonuclease activity] GO:0000082[G1/S transition of mitotic cell cycle] GO:0000403[Y-form DNA binding] GO:0000406[double-strand/single-strand DNA junction binding] GO:0000724[double-strand break repair via homologous recombination] GO:0001835[blastocyst hatching] GO:0003677[DNA binding] GO:0003684[damaged DNA binding] GO:0003690[double-stranded DNA binding] GO:0003697[single-stranded DNA binding] GO:0003714[transcription corepressor activity] GO:0004518[nuclease activity] GO:0004519[endonuclease activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0006281[DNA repair] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006974[cellular response to DNA damage stimulus] GO:0007049[cell cycle] GO:0010792[DNA double-strand break processing involved in repair via single-strand annealing] GO:0016787[hydrolase activity] GO:0017053[transcription repressor complex] GO:0035825[homologous recombination] GO:0035861[site of double-strand break] GO:0042802[identical protein binding] GO:0043231[intracellular membrane-bounded organelle] GO:0044818[mitotic G2/M transition checkpoint] GO:0045892[negative regulation of DNA-templated transcription] GO:0050896[response to stimulus] GO:0051301[cell division] GO:0051321[meiotic cell cycle] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070336[flap-structured DNA binding] GO:0070533[BRCA1-C complex] GO:0090305[nucleic acid phosphodiester bond hydrolysis] GO:0110025[DNA strand resection involved in replication fork processing] GO:1905168[positive regulation of double-strand break repair via homologous recombination]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
A0A024RC34 [Target identity:100%; Query identity:100%] DNA endonuclease RBBP8
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000014[single-stranded DNA endodeoxyribonuclease activity] GO:0000403[Y-form DNA binding] GO:0000406[double-strand/single-strand DNA junction binding] GO:0000724[double-strand break repair via homologous recombination] GO:0003677[DNA binding] GO:0003684[damaged DNA binding] GO:0003690[double-stranded DNA binding] GO:0003697[single-stranded DNA binding] GO:0003714[transcription corepressor activity] GO:0004518[nuclease activity] GO:0004519[endonuclease activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0006281[DNA repair] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006974[cellular response to DNA damage stimulus] GO:0007049[cell cycle] GO:0010792[DNA double-strand break processing involved in repair via single-strand annealing] GO:0016787[hydrolase activity] GO:0017053[transcription repressor complex] GO:0035825[homologous recombination] GO:0035861[site of double-strand break] GO:0042802[identical protein binding] GO:0043231[intracellular membrane-bounded organelle] GO:0044818[mitotic G2/M transition checkpoint] GO:0045892[negative regulation of DNA-templated transcription] GO:0050896[response to stimulus] GO:0051301[cell division] GO:0051321[meiotic cell cycle] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070336[flap-structured DNA binding] GO:0070533[BRCA1-C complex] GO:0090305[nucleic acid phosphodiester bond hydrolysis] GO:0110025[DNA strand resection involved in replication fork processing] GO:1905168[positive regulation of double-strand break repair via homologous recombination]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000014[single-stranded DNA endodeoxyribonuclease activity] GO:0000403[Y-form DNA binding] GO:0000406[double-strand/single-strand DNA junction binding] GO:0000724[double-strand break repair via homologous recombination] GO:0003677[DNA binding] GO:0003684[damaged DNA binding] GO:0003690[double-stranded DNA binding] GO:0003697[single-stranded DNA binding] GO:0003714[transcription corepressor activity] GO:0004518[nuclease activity] GO:0004519[endonuclease activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0006281[DNA repair] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006974[cellular response to DNA damage stimulus] GO:0007049[cell cycle] GO:0010792[DNA double-strand break processing involved in repair via single-strand annealing] GO:0016787[hydrolase activity] GO:0017053[transcription repressor complex] GO:0035825[homologous recombination] GO:0035861[site of double-strand break] GO:0042802[identical protein binding] GO:0043231[intracellular membrane-bounded organelle] GO:0044818[mitotic G2/M transition checkpoint] GO:0045892[negative regulation of DNA-templated transcription] GO:0050896[response to stimulus] GO:0051301[cell division] GO:0051321[meiotic cell cycle] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070336[flap-structured DNA binding] GO:0070533[BRCA1-C complex] GO:0090305[nucleic acid phosphodiester bond hydrolysis] GO:0110025[DNA strand resection involved in replication fork processing] GO:1905168[positive regulation of double-strand break repair via homologous recombination]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
A0A140TA82 [Direct mapping] DNA endonuclease RBBP8
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
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