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FLASH GENE
Symbol RBBP8 contributors: mct/npt/pgu - updated : 23-03-2015
HGNC name retinoblastoma binding protein 8
HGNC id 9891
Corresponding disease
SCKL2 Seckel syndrome 2
Location 18q11.2      Physical location : 20.513.294 - 20.606.445
Synonym name
  • retinoblastoma-interacting myosin like
  • myosin-like CTB interacting protein
  • CTBP-interacting protein CTIP
  • sporulation in the absence of SPO11 protein 2 homolog
  • Synonym symbol(s) CTIP, RIM, SCKL2, COM1, JWDS, SAE2
    DNA
    TYPE functioning gene
    STRUCTURE 93.15 kb     19 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC390838 18 hypothetical gene supported by AL832540 LOC388470 18 similar to breast cancer antigen NY-BR-1 ROCK1 18q11.2 Rho-associated, coiled-coil containing protein kinase 1 LOC388471 18 similar to 60S RIBOSOMAL PROTEIN L21 LOC390839 18 similar to Endonuclease G like 1 (Endo G like) FLJ13687 EFO1 18q11.2 establishment factor-like protein SNRPD1 18q11.1 small nuclear ribonucleoprotein D1 polypeptide 16kDa ABHD3 18q11.1 abhydrolase domain containing 3 MIB 18q11.2 ubiquitin ligase mind bomb LOC201484 18q11.2 hypothetical LOC201484 GATA6 18q11.1-q11.2 GATA binding protein 6 CTAGE-1 18p11.2 CTAGE-1 protein CTAGE-2 18p11.2 CTAGE-2 LOC390840 18 similar to ribosomal protein S4, X-linked LOC390841 18 similar to ubiquitin-conjugating enzyme E2C isoform 2; ubiquitin carrier protein E2-C; ubiquitin-protein ligase C; cyclin-selective ubiquitin carrier protein; mitotic-specific ubiquitin-conjugating enzyme RBBP8 18q11.2 retinoblastoma binding protein 8 LOC91768 MGC11386 18q11.2 hypothetical protein MGC11386 RIOK3 18q11.2 RIO kinase 3 (yeast) C18orf8 18q11.2 chromosome 18 open reading frame 8 NPC1 18q11.1-q11.2 Niemann-Pick disease, type C1 LOC147463 18q11.2 hypothetical protein LOC147463 LOC390842 18 similar to 40S ribosomal protein S10 LAMA3 18q11.2 laminin, alpha 3 FLJ33761 18q11.2 hypothetical protein FLJ33761 CABYR 18q11.1 calcium-binding tyrosine-(Y)-phosphorylation regulated (fibrousheathin 2) OSBPL1A 18q11-q12 oxysterol binding protein-like 1A IMPACT 18q11.2-q12.1 hypothetical protein IMPACT HRH4 18q11.2 histamine receptor H4 LOC390843 18 similar to hypothetical protein BC005868 LOC342741 18q11.2 similar to DEAD (Asp-Glu-Ala-Asp) box polypeptide 48 LOC147468 18q11.2 similar to WW domain binding protein 2 EHZF 18q11.2 early hematopoietic zinc finger SS18 18q11.2 synovial sarcoma translocation, chromosome 18 MGC26605 18q11.2 hypothetical protein MGC26605 TAF4B 18q11.2 TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa KCTD1 18 potassium channel tetramerisation domain containing 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    19 - 3279 - 897 - 2000 10764811
    19 - 3249 - 897 - 2000 10764811
    18 - 3233 - 867 - 2000 10764811
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines pancreatic carcinoma cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a conserved motif in the N terminus, which is required for dimer formation
  • two leucine zipper motifs
  • a RB binding domain
  • a E1A (CTBP) binding domain
  • a replication foci targeting sequence (RFTS) with a consensus PCNA-interacting protein box that binds to PCNA
  • HOMOLOGY
    interspecies homolog to C.elegans r05d3.4
    Homologene
    FAMILY
  • ezrin/radixin/moesin family
  • CATEGORY regulatory , transcription factor , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • potential modulator of BRCA1 in transcriptional regulation, DNA repair and cell cycle checkpoint control
  • controls double strand break (DSB) resection, an event that occurs effectively only in S/G(2) and that promotes homologous recombination but not non-homologous end joining
  • modulates responses to DNA damage in a cell cycle-dependent manner
  • cofactor for the transcriptional repressor CTBP1 and CTBP2
  • also implicated in DNA damage checkpoint control through its interaction with the breast cancer susceptibility gene product BRCA1
  • recruited to S-phase DNA replication foci through a novel motif functioning as replication foci targeting sequence (RFTS)
  • is a key substrate by which SIRT6 facilitates DSB processing and homologous recombination
  • new functions of RBBP8 and EXO1 in DNA end resection, preventing genomic instability
  • essential role in chromosomal translocation formation through an alternative end-joining pathway
  • plays an essential role in homologous recombination (HR)-mediated DNA double-stranded break (DSB) repair
  • RBBP8-dependent DNA resection is required for DNA damage checkpoint maintenance but not initiation
  • is a conserved DNA repair protein that facilitates DNA end resection in the double-strand break (DSB) repair pathway
  • plays a critical role during initiation of DNA interstrand crosslinks (ICLs) processing in replicating human cells that is distinct from its role in DSB repair
  • involved in cell cycle progression, DNA repair and transcriptional regulation
  • CELLULAR PROCESS cell cycle, checkpoint
    nucleotide, repair
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • RB1/RBBP8/CTBP1/E2F1 complex plays a critical role in ZNF350 transcriptional repression, and loss of this repression may contribute to cellular sensitivity of DNA damage, ultimately leading to carcinogenesis
  • BRCA1/E2F1/RBBP8 binding to ATM promoter activates ATM transcription
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to RB, CTBP, LMO4
  • interacting with BRCA1 (exerts transcriptional repression through interaction with RBBP8 in the C-terminal BRCT domain and ZNF350 in the central domain)
  • interacing with SIAH1, leading to degradation by the ubiquitin-proteasome pathway
  • interacts directly with RB family members, the prototype tumor suppressor proteins, and contributes to G(1)/S regulation
  • intimate relationship between RBBP8 and PCNA may be important for the maintenance of genomic stability in higher eukaryotic organism
  • SIRT6 interaction partner (SIRT6-dependent RBBP8 deacetylation promotes resection)
  • CDK1 permits resection by phosphorylation of RBBP8 but also prevents RAD51 binding to the resected ends during M-phase double-strand break repair
  • interacting with MRE11A (regulates RBBP8-dependent double-strand break repair by interaction with CDK2)
  • overexpression of LMO4 may disrupt some of the normal tumour suppressor activities of RBBP8, thereby contributing to breast cancer progression
  • interacts with NBN and BRCA1, and connects CDK and ATM to regulate homologous recombination (HR)-mediated double-strand break repair
  • SERBP1 regulates RBBP8 expression at the translational level in S phase
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SCKL2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   LOH    
    apparent loss of heterozygosity in pancreatic carcinoma cell lines
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS