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Aliases for RBBP8 Gene

Aliases for RBBP8 Gene

  • Retinoblastoma Binding Protein 8 2 3
  • RIM 3 4 6
  • Sporulation In The Absence Of SPO11 Protein 2 Homolog 3 4
  • Retinoblastoma-Binding Protein 8 2 4
  • CTBP-Interacting Protein 2 3
  • RBBP-8 3 4
  • SCKL2 3 6
  • JWDS 3 6
  • CTIP 3 4
  • SAE2 3 4
  • Retinoblastoma-Interacting Protein And Myosin-Like 4
  • CtBP-Interacting Protein 4
  • DNA Endonuclease RBBP8 3
  • Seckel Syndrome 2 2
  • EC 3.1.-.- 4
  • COM1 3

External Ids for RBBP8 Gene

Previous Symbols for RBBP8 Gene

  • SCKL2

Summaries for RBBP8 Gene

Entrez Gene Summary for RBBP8 Gene

  • 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]

GeneCards Summary for RBBP8 Gene

RBBP8 (Retinoblastoma Binding Protein 8) is a Protein Coding gene. Diseases associated with RBBP8 include seckel syndrome 2 and jawad syndrome. Among its related pathways are Notch-mediated HES/HEY network and BRCA1 Pathway. GO annotations related to this gene include damaged DNA binding and RNA polymerase II transcription corepressor activity. An important paralog of this gene is RBBP8NL.

UniProtKB/Swiss-Prot for RBBP8 Gene

  • Endonuclease that cooperates with the MRE11-RAD50-NBN (MRN) complex in processing meiotic and mitotic double-strand breaks (DSBs) by ensuring both resection and intrachromosomal association of the broken ends. 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. Component of the BRCA1-RBBP8 complex that regulates CHEK1 activation and controls cell cycle G2/M checkpoints on DNA damage. Promotes microhomology-mediated alternative end joining (A-NHEJ) during class-switch recombination and plays an essential role in chromosomal translocations.

Gene Wiki entry for RBBP8 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RBBP8 Gene

Genomics for RBBP8 Gene

Genomic Location for RBBP8 Gene

Start:
22,798,261 bp from pter
End:
23,026,488 bp from pter
Size:
228,228 bases
Orientation:
Plus strand

Genomic View for RBBP8 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RBBP8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RBBP8 Gene

Regulatory Elements for RBBP8 Gene

Proteins for RBBP8 Gene

  • Protein details for RBBP8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99708-COM1_HUMAN
    Recommended name:
    DNA endonuclease RBBP8
    Protein Accession:
    Q99708
    Secondary Accessions:
    • A6NKN2
    • A8K8W6
    • E7ETY1
    • O75371
    • Q8NHQ3

    Protein attributes for RBBP8 Gene

    Size:
    897 amino acids
    Molecular mass:
    101942 Da
    Quaternary structure:
    • Homodimer; dimerizes via the coiled coil domain. Interacts (via the PXDLS motif) with CTBP1; the interaction is disrupted via binding of the adenovirus E1A to CTBP1. Component of the BRCA1-RBBBP8 complex. Interacts (the Ser-327 phosphorylated form) with BRCA1 (via the C-terminal BRCA1 domains): the interaction occurs in the G2 phase, ubiquitinates RBBP8 and involves RBBP8 in BRCA1-dependent G2/M checkpoint control on DNA damage. Interacts with RB1. Interacts with the MRN complex. Interacts directly with MRE11A; the interaction is required for efficient homologous recombination (HR) and regulation of the MRN complex. Interacts directly with RAD50. Interacts directly with NBN. Interacts with SIRT6; the interaction deacetylates RBBP8 upon DNA damage. Interacts with LM04 (via the LIM zinc-binding 1 domain).

    Three dimensional structures from OCA and Proteopedia for RBBP8 Gene

    Alternative splice isoforms for RBBP8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RBBP8 Gene

Proteomics data for RBBP8 Gene at MOPED

Post-translational modifications for RBBP8 Gene

  • Acetylated. Deacetylation by SIRT6 upon DNA damage promotes DNA end resection.
  • Hyperphosphorylation upon ionizing radiation results in dissociation from BRCA1. Phosphorylation at Thr-847 by CDK1 is essential for the recruitment to DNA and the DNA repair function. Phosphorylated on Ser-327 as cells enter G2 phase. This phosphorylation is required for binding BRCA1 and for the G2/M DNA damage transition checkpoint control.
  • Ubiquitinated. Ubiquitination at multiple sites by BRCA1 (via its N-terminal RING domain) does not lead to its proteosomal degradation but instead the ubiquitinated RBBP8 binds to chromatin following DNA damage and may play a role in G2/M checkpoint control.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RBBP8 Gene

Domains for RBBP8 Gene

Protein Domains for RBBP8 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

COM1_HUMAN
Domain:
  • The PXDLS motif binds to a cleft in CtBP proteins:
    • Q99708
  • The damage-recruitment motif is required for DNA binding and translocation to sites of DNA damage:
    • Q99708
Family:
  • Belongs to the COM1/SAE2/CtIP family.:
    • Q99708
genes like me logo Genes that share domains with RBBP8: view

No data available for Gene Families for RBBP8 Gene

Function for RBBP8 Gene

Molecular function for RBBP8 Gene

GENATLAS Biochemistry: retinoblastoma binding protein,ubiquitously expressed
UniProtKB/Swiss-Prot Function: Endonuclease that cooperates with the MRE11-RAD50-NBN (MRN) complex in processing meiotic and mitotic double-strand breaks (DSBs) by ensuring both resection and intrachromosomal association of the broken ends. 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. Component of the BRCA1-RBBP8 complex that regulates CHEK1 activation and controls cell cycle G2/M checkpoints on DNA damage. Promotes microhomology-mediated alternative end joining (A-NHEJ) during class-switch recombination and plays an essential role in chromosomal translocations.
UniProtKB/Swiss-Prot Induction: Levels increase dramatically as dividing cells traverse the G1/S boubdary. Down-regulated in tamoxifen-resistant breast cancer cells

Enzyme Numbers (IUBMB) for RBBP8 Gene

Gene Ontology (GO) - Molecular Function for RBBP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000014 single-stranded DNA endodeoxyribonuclease activity IMP 18716619
GO:0001103 RNA polymerase II repressing transcription factor binding IPI 16287852
GO:0001106 RNA polymerase II transcription corepressor activity IDA 16287852
GO:0003684 damaged DNA binding IDA 18716619
GO:0005515 protein binding IPI 11739404
genes like me logo Genes that share ontologies with RBBP8: view
genes like me logo Genes that share phenotypes with RBBP8: view

Animal Models for RBBP8 Gene

MGI Knock Outs for RBBP8:

miRNA for RBBP8 Gene

miRTarBase miRNAs that target RBBP8

No data available for Transcription Factor Targeting and HOMER Transcription for RBBP8 Gene

Localization for RBBP8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RBBP8 Gene

Nucleus. Note=Associates with sites of DNA damage in S/G2 phase. Ubiquitinated RBBP8 binds to chromatin following DNA damage.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RBBP8 Gene COMPARTMENTS Subcellular localization image for RBBP8 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for RBBP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 10764811
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA --
GO:0017053 transcriptional repressor complex IDA 16287852
genes like me logo Genes that share ontologies with RBBP8: view

Pathways for RBBP8 Gene

genes like me logo Genes that share pathways with RBBP8: view

Pathways by source for RBBP8 Gene

1 Qiagen pathway for RBBP8 Gene
1 Cell Signaling Technology pathway for RBBP8 Gene

Gene Ontology (GO) - Biological Process for RBBP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000075 cell cycle checkpoint TAS 10764811
GO:0000082 G1/S transition of mitotic cell cycle IEA --
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 16287852
GO:0000724 double-strand break repair via homologous recombination IDA 20829486
GO:0000737 DNA catabolic process, endonucleolytic --
genes like me logo Genes that share ontologies with RBBP8: view

Compounds for RBBP8 Gene

(1) Novoseek inferred chemical compound relationships for RBBP8 Gene

Compound -log(P) Hits PubMed IDs
mononucleotide 61.2 1
genes like me logo Genes that share compounds with RBBP8: view

Transcripts for RBBP8 Gene

Unigene Clusters for RBBP8 Gene

Retinoblastoma binding protein 8:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RBBP8 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^
SP1: - - - - - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - - -
SP5: - - -
SP6: -
SP7:

ExUns: 20 ^ 21a · 21b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for RBBP8 Gene

GeneLoc Exon Structure for
RBBP8
ECgene alternative splicing isoforms for
RBBP8

Expression for RBBP8 Gene

mRNA expression in normal human tissues for RBBP8 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RBBP8 Gene

SOURCE GeneReport for Unigene cluster for RBBP8 Gene Hs.546282

genes like me logo Genes that share expressions with RBBP8: view

Orthologs for RBBP8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RBBP8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RBBP8 36
  • 99.18 (n)
  • 98.88 (a)
RBBP8 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RBBP8 36
  • 87.04 (n)
  • 81.23 (a)
RBBP8 37
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RBBP8 36
  • 88.33 (n)
  • 83 (a)
RBBP8 37
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rbbp8 36
  • 84.08 (n)
  • 76.79 (a)
Rbbp8 16
Rbbp8 37
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 89 (a)
OneToMany
-- 37
  • 67 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia RBBP8 37
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rbbp8 36
  • 82.44 (n)
  • 75.78 (a)
chicken
(Gallus gallus)
Aves RBBP8 36
  • 66.52 (n)
  • 59.34 (a)
RBBP8 37
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RBBP8 37
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rbbp8 36
  • 58.53 (n)
  • 50.6 (a)
Str.7440 36
zebrafish
(Danio rerio)
Actinopterygii Dr.21899 36
rbbp8 37
  • 35 (a)
OneToOne
Species with no ortholog for RBBP8:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RBBP8 Gene

ENSEMBL:
Gene Tree for RBBP8 (if available)
TreeFam:
Gene Tree for RBBP8 (if available)

Paralogs for RBBP8 Gene

Paralogs for RBBP8 Gene

Pseudogenes.org Pseudogenes for RBBP8 Gene

genes like me logo Genes that share paralogs with RBBP8: view

Variants for RBBP8 Gene

Sequence variations from dbSNP and Humsavar for RBBP8 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type MAF
rs721578 -- 22,922,719(+) CTTGA(C/T)CTCCC intron-variant
rs729954 -- 22,929,205(+) GACTC(A/G)TCCTG intron-variant
rs729955 -- 22,929,489(+) gtgtg(G/T)gtgtg intron-variant
rs768793 -- 22,976,640(-) TTTTT(A/T)AAAAA intron-variant
rs897998 -- 22,975,616(-) AAAAA(C/T)AGAGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RBBP8 Gene

Variant ID Type Subtype PubMed ID
esv2659320 CNV Deletion 23128226
esv259466 OTHER Complex 20981092
esv259813 OTHER Complex 20981092
nsv131399 CNV Insertion 16902084
esv1450571 CNV Insertion 17803354

Relevant External Links for RBBP8 Gene

HapMap Linkage Disequilibrium report
RBBP8
Human Gene Mutation Database (HGMD)
RBBP8

Disorders for RBBP8 Gene

(2) OMIM Diseases for RBBP8 Gene (604124)

UniProtKB/Swiss-Prot

COM1_HUMAN
  • Seckel syndrome 2 (SCKL2) [MIM:606744]: A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation. {ECO:0000269 PubMed:21998596}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Jawad syndrome (JWDS) [MIM:251255]: A syndrome characterized by congenital microcephaly, moderately severe mental retardation, and symmetrical digital anomalies. Digital malformations of variable degree include hallux valgus, syndactyly of toes 4 and 5, short fifth fingers, single flexion crease of fifth fingers, polydactyly and synpolydactyly. {ECO:0000269 PubMed:21998596}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Genetic variability in RBBP8 is noted as a factor in BRCA1-associated breast cancer risk. Exhibits sensitivity to tamoxifen in certain breast cancer cell lines.

(5) Novoseek inferred disease relationships for RBBP8 Gene

Disease -log(P) Hits PubMed IDs
retinoblastoma 45.1 1
microsatellite instability 36.5 1
breast cancer 29.1 10
tumors 17.8 5
cancer 8.21 2

Relevant External Links for RBBP8

Genetic Association Database (GAD)
RBBP8
Human Genome Epidemiology (HuGE) Navigator
RBBP8
genes like me logo Genes that share disorders with RBBP8: view

Publications for RBBP8 Gene

  1. Molecular cloning and characterization of a novel retinoblastoma- binding protein. (PMID: 9721205) Fusco C. … Zervos A.S. (Genomics 1998) 2 3 4 23
  2. Human CtIP promotes DNA end resection. (PMID: 17965729) Sartori A.A. … Jackson S.P. (Nature 2007) 2 3 4 23
  3. 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. (PMID: 9535825) Schaeper U. … Chinnadurai G. (J. Biol. Chem. 1998) 3 4 23
  4. BRCA1 ubiquitinates its phosphorylation-dependent binding partner CtIP. (PMID: 16818604) Yu X. … Chen J. (Genes Dev. 2006) 3 4 23
  5. Nuclear localization and cell cycle-specific expression of CtIP, a protein that associates with the BRCA1 tumor suppressor. (PMID: 10764811) Yu X. … Baer R. (J. Biol. Chem. 2000) 3 4 23

Products for RBBP8 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Cell Cycle in human,mouse,rat
    • DNA Damage Signaling Pathway in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate RBBP8
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for RBBP8
    • Block miRNA regulation of RBBP8 using miScript Target Protectors

    Sources for RBBP8 Gene

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