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    Rbbp8 retinoblastoma binding protein 8, endonuclease [ Mus musculus (house mouse) ]

    Gene ID: 225182, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Rbbp8provided by MGI
    Official Full Name
    retinoblastoma binding protein 8, endonucleaseprovided by MGI
    Primary source
    MGI:MGI:2442995
    See related
    Ensembl:ENSMUSG00000041238 AllianceGenome:MGI:2442995
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    RIM; CtIP; SAE2; RBBP-8; 9930104E21Rik
    Summary
    Predicted to enable several functions, including identical protein binding activity; single-stranded DNA endodeoxyribonuclease activity; and transcription corepressor activity. Acts upstream of or within G1/S transition of mitotic cell cycle and blastocyst hatching. Predicted to be located in nucleoplasm. Predicted to be part of BRCA1-C complex and transcription repressor complex. Predicted to be active in site of double-strand break. Human ortholog(s) of this gene implicated in Seckel syndrome 2. Orthologous to human RBBP8 (RB binding protein 8, endonuclease). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in CNS E11.5 (RPKM 6.2), placenta adult (RPKM 5.1) and 23 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Rbbp8 in Genome Data Viewer
    Location:
    18 A1; 18 5.85 cM
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (11766333..11876264)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (11633276..11743207)

    Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene GATA binding protein 6, opposite strand Neighboring gene GATA binding protein 6 Neighboring gene VISTA enhancer mm138 Neighboring gene predicted gene, 35918 Neighboring gene STARR-positive B cell enhancer ABC_E8703 Neighboring gene CapStarr-seq enhancer MGSCv37_chr18:11816567-11816720 Neighboring gene STARR-seq mESC enhancer starr_43816 Neighboring gene predicted gene, 54029 Neighboring gene ring finger and WD repeat domain 2 pseudogene Neighboring gene predicted gene, 41665

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. ATM/ATR Phosphorylation of CtIP on Its Conserved Sae2-like Domain Is Required for Genotoxin-Induced DNA Resection but Dispensable for Animal Development. Wu-Baer F, et al. Cells, 2023 Dec 4. PMID 38067190, Free PMC Article
    2. An essential role for CtIP in chromosomal translocation formation through an alternative end-joining pathway. Zhang Y, et al. Nat Struct Mol Biol, 2011 Jan. PMID 21131978, Free PMC Article
    3. CtIP promotes microhomology-mediated alternative end joining during class-switch recombination. Lee-Theilen M, et al. Nat Struct Mol Biol, 2011 Jan. PMID 21131982, Free PMC Article
    4. CtIP, a candidate tumor susceptibility gene is a team player with luminaries. Chinnadurai G. Biochim Biophys Acta, 2006 Jan. PMID 16249056
    5. The Influence of the CTIP Polymorphism, Q418P, on Homologous Recombination and Predisposition to Radiation-Induced Tumorigenesis (mainly rAML) in Mice. Patel A, et al. Radiat Res, 2016 Dec. PMID 27869555

    See all (44) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CtIP-mediated DNA resection is dispensable for IgH class switch recombination by alternative end-joining.
      Title: CtIP-mediated DNA resection is dispensable for IgH class switch recombination by alternative end-joining.
    2. essential for early B cell proliferation and development
      Title: CtIP is essential for early B cell proliferation and development in mice.
    3. CtIP enhances long-range resection by BLM-DNA2-RPA. CtIP interacts with and stimulates the activity of the BLM helicase and upregulates DNA2 activity.
      Title: Enhancement of BLM-DNA2-Mediated Long-Range DNA End Resection by CtIP.
    4. CtIP is not a tumor suppressor, but has oncogenic properties that can promote tumorigenesis, consistent with its ability to facilitate MMEJ-dependent chromosomal instability.
      Title: The DNA resection protein CtIP promotes mammary tumorigenesis.
    5. we reveal that reprogramming is associated with high levels of DNA end resection, a critical step in homologous recombination. Moreover, the resection factor CtIP is essential for cell reprogramming and establishment of iPSCs, probably to repair reprogramming-induced DNA damage.
      Title: CtIP-Specific Roles during Cell Reprogramming Have Long-Term Consequences in the Survival and Fitness of Induced Pluripotent Stem Cells.
    6. Q418P nsSNP influences the efficiency of CTIP function in HR repair of DNA DSBs
      Title: The Influence of the CTIP Polymorphism, Q418P, on Homologous Recombination and Predisposition to Radiation-Induced Tumorigenesis (mainly rAML) in Mice.
    7. Ctip1 couples subtype and area specification, enabling specific functional areas to organize precise ratios of appropriate output projections.
      Title: Ctip1 Regulates the Balance between Specification of Distinct Projection Neuron Subtypes in Deep Cortical Layers.
    8. work therefore ascribes novel roles for BRCA1 and CtIP in end-processing and fusion reactions at uncapped telomeres
      Title: BRCA1 and CtIP promote alternative non-homologous end-joining at uncapped telomeres.
    9. Data indicate that loss of the CtIP-BRCA1 interaction does not detectably affect resection, maintenance of genomic stability or viability.
      Title: CtIP-mediated resection is essential for viability and can operate independently of BRCA1.
    10. The phospho-dependent BRCA1-CtIP interaction is not essential for HDR-mediated DSB repair or for tumor suppression.
      Title: The interaction between CtIP and BRCA1 is not essential for resection-mediated DNA repair or tumor suppression.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (7)  1 citation

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables RNA polymerase II-specific DNA-binding transcription factor binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA polymerase II-specific DNA-binding transcription factor binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables damaged DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables damaged DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables damaged DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables single-stranded DNA endodeoxyribonuclease activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables single-stranded DNA endodeoxyribonuclease activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables transcription corepressor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transcription corepressor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA double-strand break processing involved in repair via single-strand annealing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in DNA double-strand break processing involved in repair via single-strand annealing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in DNA double-strand break processing involved in repair via single-strand annealing ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in DNA strand resection involved in replication fork processing ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in DNA strand resection involved in replication fork processing NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    acts_upstream_of_or_within G1/S transition of mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within blastocyst hatching IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in double-strand break repair via homologous recombination ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in double-strand break repair via homologous recombination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in homologous recombination NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in meiotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitotic G2/M transition checkpoint NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of BRCA1-C complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in site of double-strand break IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in site of double-strand break ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of transcription repressor complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of transcription repressor complex ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    DNA endonuclease RBBP8
    Names
    ctBP-interacting protein
    retinoblastoma-binding protein 8
    sporulation in the absence of SPO11 protein 2 homolog

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001081223.2 → NP_001074692.1  DNA endonuclease RBBP8

      See identical proteins and their annotated locations for NP_001074692.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC090479, AC115894, AK037049
      Consensus CDS
      CCDS37738.1
      UniProtKB/Swiss-Prot
      Q80YR6
      UniProtKB/TrEMBL
      Q8VE67
      Related
      ENSMUSP00000046255.7, ENSMUST00000047322.8
      Conserved Domains (2) summary
      pfam08573
      Location:793 → 853
      SAE2; DNA repair protein endonuclease SAE2/CtIP C-terminus
      pfam10482
      Location:20 → 138
      CtIP_N; tumor-suppressor protein CtIP N-terminal domain

    2. NM_001252495.1 → NP_001239424.1  DNA endonuclease RBBP8

      See identical proteins and their annotated locations for NP_001239424.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC090479, AC115894
      Consensus CDS
      CCDS37738.1
      UniProtKB/Swiss-Prot
      Q80YR6
      UniProtKB/TrEMBL
      Q8VE67
      Related
      ENSMUSP00000111527.3, ENSMUST00000115861.9
      Conserved Domains (2) summary
      pfam08573
      Location:793 → 853
      SAE2; DNA repair protein endonuclease SAE2/CtIP C-terminus
      pfam10482
      Location:20 → 138
      CtIP_N; tumor-suppressor protein CtIP N-terminal domain

    RNA

    1. NR_045526.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC090479, AC115894, AK163908, CD352622, CX567593

    2. NR_045527.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has multiple differences compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC090479, AC115894, AK041384
      Related
      ENSMUST00000235039.2

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000084.7 Reference GRCm39 C57BL/6J

      Range
      11766333..11876264
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006525812.4 → XP_006525875.1  DNA endonuclease RBBP8 isoform X1

      See identical proteins and their annotated locations for XP_006525875.1

      UniProtKB/Swiss-Prot
      Q80YR6
      UniProtKB/TrEMBL
      Q8VE67
      Conserved Domains (2) summary
      pfam08573
      Location:793 → 853
      SAE2; DNA repair protein endonuclease SAE2/CtIP C-terminus
      pfam10482
      Location:20 → 138
      CtIP_N; tumor-suppressor protein CtIP N-terminal domain

    2. XM_030250421.2 → XP_030106281.1  DNA endonuclease RBBP8 isoform X2

      Conserved Domains (1) summary
      pfam08573
      Location:519 → 579
      SAE2; DNA repair protein endonuclease SAE2/CtIP C-terminus

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_175458.2: Suppressed sequence

      Description
      NM_175458.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q80YR6.1 GenPept UniProtKB/Swiss-Prot:Q80YR6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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