LOCUS       NM_002894               3275 bp    mRNA    linear   PRI 24-JAN-2025
DEFINITION  Homo sapiens RB binding protein 8, endonuclease (RBBP8), transcript
            variant 1, mRNA.
ACCESSION   NM_002894
VERSION     NM_002894.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3275)
  AUTHORS   Zhang,Z., Samsa,W.E. and Gong,Z.
  TITLE     NUDT16 regulates CtIP PARylation to dictate homologous
            recombination repair
  JOURNAL   Nucleic Acids Res 52 (7), 3761-3777 (2024)
   PUBMED   38324469
  REMARK    GeneRIF: NUDT16 regulates CtIP PARylation to dictate homologous
            recombination repair.
REFERENCE   2  (bases 1 to 3275)
  AUTHORS   Yan,J., Wu,J., Wang,Y., Di,X., Jiang,H., Wen,D., Li,D. and Zhang,S.
  TITLE     A novel RBBP8(p.E281*) germline mutation is a predisposing mutation
            in familial hereditary cancer syndrome
  JOURNAL   J Mol Med (Berl) 101 (10), 1255-1265 (2023)
   PUBMED   37615686
  REMARK    GeneRIF: A novel RBBP8(p.E281*) germline mutation is a predisposing
            mutation in familial hereditary cancer syndrome.
REFERENCE   3  (bases 1 to 3275)
  AUTHORS   Jeong,S.Y., Hariharasudhan,G., Kim,M.J., Lim,J.Y., Jung,S.M.,
            Choi,E.J., Chang,I.Y., Kee,Y., You,H.J. and Lee,J.H.
  TITLE     SIAH2 regulates DNA end resection and replication fork recovery by
            promoting CtIP ubiquitination
  JOURNAL   Nucleic Acids Res 50 (18), 10469-10486 (2022)
   PUBMED   36155803
  REMARK    GeneRIF: SIAH2 regulates DNA end resection and replication fork
            recovery by promoting CtIP ubiquitination.
REFERENCE   4  (bases 1 to 3275)
  AUTHORS   Averbeck,N.B., Barent,C., Jakob,B., Syzonenko,T., Durante,M. and
            Taucher-Scholz,G.
  TITLE     The Ubiquitin Ligase RNF138 Cooperates with CtIP to Stimulate
            Resection of Complex DNA Double-Strand Breaks in Human G1-Phase
            Cells
  JOURNAL   Cells 11 (16), 2561 (2022)
   PUBMED   36010636
  REMARK    GeneRIF: The Ubiquitin Ligase RNF138 Cooperates with CtIP to
            Stimulate Resection of Complex DNA Double-Strand Breaks in Human
            G1-Phase Cells.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3275)
  AUTHORS   Wang,J., Sheng,Z., Dong,Z., Wu,Q. and Cai,Y.
  TITLE     The mechanism of radiotherapy for lung adenocarcinoma in promoting
            protein SIRT6-mediated deacetylation of RBBP8 to enhance the
            sensitivity of targeted therapy
  JOURNAL   Int J Immunopathol Pharmacol 36, 3946320221130727 (2022)
   PUBMED   36172813
  REMARK    GeneRIF: The mechanism of radiotherapy for lung adenocarcinoma in
            promoting protein SIRT6-mediated deacetylation of RBBP8 to enhance
            the sensitivity of targeted therapy.
REFERENCE   6  (bases 1 to 3275)
  AUTHORS   Yu,X., Wu,L.C., Bowcock,A.M., Aronheim,A. and Baer,R.
  TITLE     The C-terminal (BRCT) domains of BRCA1 interact in vivo with CtIP,
            a protein implicated in the CtBP pathway of transcriptional
            repression
  JOURNAL   J Biol Chem 273 (39), 25388-25392 (1998)
   PUBMED   9738006
REFERENCE   7  (bases 1 to 3275)
  AUTHORS   Fusco,C., Reymond,A. and Zervos,A.S.
  TITLE     Molecular cloning and characterization of a novel
            retinoblastoma-binding protein
  JOURNAL   Genomics 51 (3), 351-358 (1998)
   PUBMED   9721205
REFERENCE   8  (bases 1 to 3275)
  AUTHORS   Schaeper,U., Subramanian,T., Lim,L., Boyd,J.M. and Chinnadurai,G.
  TITLE     Interaction between a cellular protein that binds to the C-terminal
            region of adenovirus E1A (CtBP) and a novel cellular protein is
            disrupted by E1A through a conserved PLDLS motif
  JOURNAL   J Biol Chem 273 (15), 8549-8552 (1998)
   PUBMED   9535825
REFERENCE   9  (bases 1 to 3275)
  AUTHORS   Matoba,R., Okubo,K., Hori,N., Fukushima,A. and Matsubara,K.
  TITLE     The addition of 5'-coding information to a 3'-directed cDNA library
            improves analysis of gene expression
  JOURNAL   Gene 146 (2), 199-207 (1994)
   PUBMED   8076819
REFERENCE   10 (bases 1 to 3275)
  AUTHORS   Verloes,A., Drunat,S., Gressens,P. and Passemard,S.
  TITLE     Primary Autosomal Recessive Microcephalies and Seckel Syndrome
            Spectrum Disorders - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301772
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC091147.15, BG723261.1 and
            AF043431.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_002894.2.
            
            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].
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1 and 2 both encode isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: U72066.1, SRR1803612.200164.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000327155.10/ ENSP00000323050.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4                 AC091147.15        61107-61110         c
            5-297               BG723261.1         10-302
            298-3275            AF043431.1         261-3238
FEATURES             Location/Qualifiers
     source          1..3275
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q11.2"
     gene            1..3275
                     /gene="RBBP8"
                     /gene_synonym="COM1; CTIP; JAWAD; JWDS; RIM; SAE2; SCKL2"
                     /note="RB binding protein 8, endonuclease"
                     /db_xref="GeneID:5932"
                     /db_xref="HGNC:HGNC:9891"
                     /db_xref="MIM:604124"
     exon            1..237
                     /gene="RBBP8"
                     /gene_synonym="COM1; CTIP; JAWAD; JWDS; RIM; SAE2; SCKL2"
                     /inference="alignment:Splign:2.1.0"
     exon            238..444
                     /gene="RBBP8"
                     /gene_synonym="COM1; CTIP; JAWAD; JWDS; RIM; SAE2; SCKL2"
                     /inference="alignment:Splign:2.1.0"
     CDS             336..3029
                     /gene="RBBP8"
                     /gene_synonym="COM1; CTIP; JAWAD; JWDS; RIM; SAE2; SCKL2"
                     /note="isoform a is encoded by transcript variant 1;
                     CTBP-interacting protein; DNA endonuclease RBBP8;
                     sporulation in the absence of SPO11 protein 2 homolog;
                     retinoblastoma binding protein 8"
                     /codon_start=1
                     /product="DNA endonuclease RBBP8 isoform a"
                     /protein_id="NP_002885.1"
                     /db_xref="CCDS:CCDS11875.1"
                     /db_xref="GeneID:5932"
                     /db_xref="HGNC:HGNC:9891"
                     /db_xref="MIM:604124"
                     /translation="MNISGSSCGSPNSADTSSDFKDLWTKLKECHDREVQGLQVKVTK
                     LKQERILDAQRLEEFFTKNQQLREQQKVLHETIKVLEDRLRAGLCDRCAVTEEHMRKK
                     QQEFENIRQQNLKLITELMNERNTLQEENKKLSEQLQQKIENDQQHQAAELECEEDVI
                     PDSPITAFSFSGVNRLRRKENPHVRYIEQTHTKLEHSVCANEMRKVSKSSTHPQHNPN
                     ENEILVADTYDQSQSPMAKAHGTSSYTPDKSSFNLATVVAETLGLGVQEESETQGPMS
                     PLGDELYHCLEGNHKKQPFEESTRNTEDSLRFSDSTSKTPPQEELPTRVSSPVFGATS
                     SIKSGLDLNTSLSPSLLQPGKKKHLKTLPFSNTCISRLEKTRSKSEDSALFTHHSLGS
                     EVNKIIIQSSNKQILINKNISESLGEQNRTEYGKDSNTDKHLEPLKSLGGRTSKRKKT
                     EEESEHEVSCPQASFDKENAFPFPMDNQFSMNGDCVMDKPLDLSDRFSAIQRQEKSQG
                     SETSKNKFRQVTLYEALKTIPKGFSSSRKASDGNCTLPKDSPGEPCSQECIILQPLNK
                     CSPDNKPSLQIKEENAVFKIPLRPRESLETENVLDDIKSAGSHEPIKIQTRSDHGGCE
                     LASVLQLNPCRTGKIKSLQNNQDVSFENIQWSIDPGADLSQYKMDVTVIDTKDGSQSK
                     LGGETVDMDCTLVSETVLLKMKKQEQKGEKSSNEERKMNDSLEDMFDRTTHEEYESCL
                     ADSFSQAADEEEELSTATKKLHTHGDKQDKVKQKAFVEPYFKGDERETSLQNFPHIEV
                     VRKKEERRKLLGHTCKECEIYYADMPAEEREKKLASCSRHRFRYIPPNTPENFWEVGF
                     PSTQTCMERGYIKEDLDPCPRPKRRQPYNAIFSPKGKEQKT"
     exon            445..487
                     /gene="RBBP8"
                     /gene_synonym="COM1; CTIP; JAWAD; JWDS; RIM; SAE2; SCKL2"
                     /inference="alignment:Splign:2.1.0"
     exon            488..583
                     /gene="RBBP8"
                     /gene_synonym="COM1; CTIP; JAWAD; JWDS; RIM; SAE2; SCKL2"
                     /inference="alignment:Splign:2.1.0"
     exon            584..696
                     /gene="RBBP8"
                     /gene_synonym="COM1; CTIP; JAWAD; JWDS; RIM; SAE2; SCKL2"
                     /inference="alignment:Splign:2.1.0"
     exon            697..763
                     /gene="RBBP8"
                     /gene_synonym="COM1; CTIP; JAWAD; JWDS; RIM; SAE2; SCKL2"
                     /inference="alignment:Splign:2.1.0"
     exon            764..939
                     /gene="RBBP8"
                     /gene_synonym="COM1; CTIP; JAWAD; JWDS; RIM; SAE2; SCKL2"
                     /inference="alignment:Splign:2.1.0"
     exon            940..1044
                     /gene="RBBP8"
                     /gene_synonym="COM1; CTIP; JAWAD; JWDS; RIM; SAE2; SCKL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1045..1142
                     /gene="RBBP8"
                     /gene_synonym="COM1; CTIP; JAWAD; JWDS; RIM; SAE2; SCKL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1143..1255
                     /gene="RBBP8"
                     /gene_synonym="COM1; CTIP; JAWAD; JWDS; RIM; SAE2; SCKL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1256..2147
                     /gene="RBBP8"
                     /gene_synonym="COM1; CTIP; JAWAD; JWDS; RIM; SAE2; SCKL2"
                     /inference="alignment:Splign:2.1.0"
     exon            2148..2274
                     /gene="RBBP8"
                     /gene_synonym="COM1; CTIP; JAWAD; JWDS; RIM; SAE2; SCKL2"
                     /inference="alignment:Splign:2.1.0"
     exon            2275..2363
                     /gene="RBBP8"
                     /gene_synonym="COM1; CTIP; JAWAD; JWDS; RIM; SAE2; SCKL2"
                     /inference="alignment:Splign:2.1.0"
     exon            2364..2478
                     /gene="RBBP8"
                     /gene_synonym="COM1; CTIP; JAWAD; JWDS; RIM; SAE2; SCKL2"
                     /inference="alignment:Splign:2.1.0"
     exon            2479..2622
                     /gene="RBBP8"
                     /gene_synonym="COM1; CTIP; JAWAD; JWDS; RIM; SAE2; SCKL2"
                     /inference="alignment:Splign:2.1.0"
     exon            2623..2692
                     /gene="RBBP8"
                     /gene_synonym="COM1; CTIP; JAWAD; JWDS; RIM; SAE2; SCKL2"
                     /inference="alignment:Splign:2.1.0"
     exon            2693..2789
                     /gene="RBBP8"
                     /gene_synonym="COM1; CTIP; JAWAD; JWDS; RIM; SAE2; SCKL2"
                     /inference="alignment:Splign:2.1.0"
     exon            2790..2931
                     /gene="RBBP8"
                     /gene_synonym="COM1; CTIP; JAWAD; JWDS; RIM; SAE2; SCKL2"
                     /inference="alignment:Splign:2.1.0"
     exon            2932..3275
                     /gene="RBBP8"
                     /gene_synonym="COM1; CTIP; JAWAD; JWDS; RIM; SAE2; SCKL2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3255..3260
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RBBP8"
                     /gene_synonym="COM1; CTIP; JAWAD; JWDS; RIM; SAE2; SCKL2"
                     /note="hexamer: AATACA"
     polyA_site      3275
                     /gene="RBBP8"
                     /gene_synonym="COM1; CTIP; JAWAD; JWDS; RIM; SAE2; SCKL2"
                     /note="major polyA site"
ORIGIN      
        1 gcgtgacgtc gcgcgggctc ccgggcgggg cgggtccggc cgcctccgag cccggccggc
       61 agcccccggc cttaaagcgc gggctgtccg gaggggtcgg ctttcccacc gaggatttgg
      121 cactctggtg agggaaaagg gcgaaagaga aaagcgagca gccgtccttt cacagcctca
      181 gaaagtgctc gcttcccttc gggggctttc gcgaatcccg aggcaatctc ggaggcggta
      241 tttgacctgt ccaaagacga cttgatacct ctataatgta acagaaaagg tcagaaaata
      301 ttaagcaagt agaagtgtgg agcatattaa gcaagatgaa catctcggga agcagctgtg
      361 gaagccctaa ctctgcagat acatctagtg actttaagga cctttggaca aaactaaaag
      421 aatgtcatga tagagaagta caaggtttac aagtaaaagt aaccaagcta aaacaggaac
      481 gaatcttaga tgcacaaaga ctagaagaat tcttcaccaa aaatcaacag ctgagggaac
      541 agcagaaagt ccttcatgaa accattaaag ttttagaaga tcggttaaga gcaggcttat
      601 gtgatcgctg tgcagtaact gaagaacata tgcggaaaaa acagcaagag tttgaaaata
      661 tccggcagca gaatcttaaa cttattacag aacttatgaa tgaaaggaat actctacagg
      721 aagaaaataa aaagctttct gaacaactcc agcagaaaat tgagaatgat caacagcatc
      781 aagcagctga gcttgaatgt gaggaagacg ttattccaga ttcaccgata acagccttct
      841 cattttctgg cgttaaccgg ctacgaagaa aggagaaccc ccatgtccga tacatagaac
      901 aaacacatac taaattggag cactctgtgt gtgcaaatga aatgagaaaa gtttccaagt
      961 cttcaactca tccacaacat aatcctaatg aaaatgaaat tctagtagct gacacttatg
     1021 accaaagtca atctccaatg gccaaagcac atggaacaag cagctatacc cctgataagt
     1081 catcttttaa tttagctaca gttgttgctg aaacacttgg acttggtgtt caagaagaat
     1141 ctgaaactca aggtcccatg agcccccttg gtgatgagct ctaccactgt ctggaaggaa
     1201 atcacaagaa acagcctttt gaggaatcta caagaaatac tgaagatagt ttaagatttt
     1261 cagattctac ttcaaagact cctcctcaag aagaattacc tactcgagtg tcatctcctg
     1321 tatttggagc tacctctagt atcaaaagtg gtttagattt gaatacaagt ttgtcccctt
     1381 ctcttttaca gcctgggaaa aaaaaacatc tgaaaacact cccttttagc aacacttgta
     1441 tatctagatt agaaaaaact agatcaaaat ctgaagatag tgcccttttc acacatcaca
     1501 gtcttgggtc tgaagtgaac aagatcatta tccagtcatc taataaacag atacttataa
     1561 ataaaaatat aagtgaatcc ctaggtgaac agaataggac tgagtacggt aaagattcta
     1621 acactgataa acatttggag cccctgaaat cattgggagg ccgaacatcc aaaaggaaga
     1681 aaactgagga agaaagtgaa catgaagtaa gctgccccca agcttctttt gataaagaaa
     1741 atgctttccc ttttccaatg gataatcagt tttccatgaa tggagactgt gtgatggata
     1801 aacctctgga tctgtctgat cgattttcag ctattcagcg tcaagagaaa agccaaggaa
     1861 gtgagacttc taaaaacaaa tttaggcaag tgactcttta tgaggctttg aagaccattc
     1921 caaagggctt ttcctcaagc cgtaaggcct cagatggcaa ctgcacgttg cccaaagatt
     1981 ccccagggga gccctgttca caggaatgca tcatccttca gcccttgaat aaatgctctc
     2041 cagacaataa accatcatta caaataaaag aagaaaatgc tgtctttaaa attcctctac
     2101 gtccacgtga aagtttggag actgagaatg ttttagatga cataaagagt gctggttctc
     2161 atgagccaat aaaaatacaa accaggtcag accatggagg atgtgaactt gcatcagttc
     2221 ttcagttaaa tccatgtaga actggtaaaa taaagtctct acaaaacaac caagatgtat
     2281 cctttgaaaa tatccagtgg agtatagatc cgggagcaga cctttctcag tataaaatgg
     2341 atgttactgt aatagataca aaggatggca gtcagtcaaa attaggagga gagacagtgg
     2401 acatggactg tacattggtt agtgaaaccg ttctcttaaa aatgaagaag caagagcaga
     2461 agggagaaaa aagttcaaat gaagaaagaa aaatgaatga tagcttggaa gatatgtttg
     2521 atcggacaac acatgaagag tatgaatcct gtttggcaga cagtttctcc caagcagcag
     2581 atgaagagga ggaattgtct actgccacaa agaaactaca cactcatggt gataaacaag
     2641 acaaagtcaa gcagaaagcg tttgtggagc cgtattttaa aggtgatgaa agagagacta
     2701 gcttgcaaaa ttttcctcat attgaggtgg ttcggaaaaa agaggagaga agaaaactgc
     2761 ttgggcacac gtgtaaggaa tgtgaaattt attatgcaga tatgccagca gaagaaagag
     2821 aaaagaaatt ggcttcctgc tcaagacacc gattccgcta cattccaccc aacacaccag
     2881 agaatttttg ggaagttggt tttccttcca ctcagacttg tatggaaaga ggttatatta
     2941 aggaagatct tgatccttgt cctcgtccaa aaagacgtca gccttacaac gcaatatttt
     3001 ctccaaaagg caaggagcag aagacataga cgttgaaaca gaaacagaag gatgaaggac
     3061 agttttttcc ttcttagtta tttatagtta aagttggtac taaacattga tttttttgat
     3121 cttctgtaaa tggatttata aatcagtttt ctattgaaaa tgtttgtgat attttgcttt
     3181 tgcaccttta aaacaataag gcgctttcat tttgcactct aacttaagag tttttacttt
     3241 atgtagtgat acctaataca attttgaaaa tacaa
//
