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Aliases for RBBP8 Gene

Aliases for RBBP8 Gene

  • Retinoblastoma Binding Protein 8 2 3 5
  • 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
  • CTIP 3 4
  • SAE2 3 4
  • RIM 3 4
  • Retinoblastoma-Interacting Protein And Myosin-Like 4
  • CtBP-Interacting Protein 4
  • Seckel Syndrome 2 2
  • EC 3.1.-.- 4
  • SCKL2 3
  • COM1 3
  • JWDS 3

External Ids for RBBP8 Gene

Previous HGNC Symbols for RBBP8 Gene

  • SCKL2

Previous GeneCards Identifiers for RBBP8 Gene

  • GC18P020402
  • GC18P020243
  • GC18P018765
  • GC18P018767
  • GC18P020513
  • GC18P017367
  • GC18P020378

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 jawad syndrome and seckel syndrome 2. Among its related pathways are Gene Expression and Cell Cycle, Mitotic. 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

Regulatory Elements for RBBP8 Gene

Promoters for RBBP8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RBBP8 on UCSC Golden Path with GeneCards custom track

Genomic Location for RBBP8 Gene

Chromosome:
18
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

Genes around RBBP8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RBBP8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RBBP8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 (PubMed:15084581). Interacts (via the PXDLS motif) with CTBP1; the interaction is disrupted via binding of the adenovirus E1A to CTBP1 (PubMed:9535825). Component of the BRCA1-RBBP8 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 (PubMed:10764811, PubMed:15485915, PubMed:16818604, PubMed:17965729). Interacts with RB1 (PubMed:9721205). Interacts with the MRN complex. Interacts directly with MRE11A; the interaction is required for efficient homologous recombination (HR) and regulation of the MRN complex (PubMed:19759395). Interacts directly with RAD50 (PubMed:19759395). Interacts directly with NBN (PubMed:19759395). Interacts with SIRT6; the interaction deacetylates RBBP8 upon DNA damage (PubMed:20829486). Interacts with LM04 (via the LIM zinc-binding 1 domain) (PubMed:11751867). Interacts with SIAH1 (PubMed:14654780). Interacts with RNF138 (PubMed:26502057).

    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 (PubMed:14654780, PubMed:16818604). 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 (PubMed:16818604). Ubiquitinated by RNF138 at its N-terminus (PubMed:26502057).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for RBBP8 (CtIP)

No data available for DME Specific Peptides for RBBP8 Gene

Domains & Families for RBBP8 Gene

Protein Domains for RBBP8 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RBBP8 Gene

Graphical View of Domain Structure for InterPro Entry

Q99708

UniProtKB/Swiss-Prot:

COM1_HUMAN :
  • The PXDLS motif binds to a cleft in CtBP proteins.
  • Belongs to the COM1/SAE2/CtIP family.
Domain:
  • The PXDLS motif binds to a cleft in CtBP proteins.
  • The damage-recruitment motif is required for DNA binding and translocation to sites of DNA damage.
Family:
  • Belongs to the COM1/SAE2/CtIP family.
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

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

Human Phenotype Ontology for RBBP8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RBBP8 Gene

MGI Knock Outs for RBBP8:

Animal Model Products

CRISPR Products

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for RBBP8 Gene

Localization for RBBP8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RBBP8 Gene

Nucleus. Chromosome. Note=Associates with sites of DNA damage in S/G2 phase (PubMed:10764811). Ubiquitinated RBBP8 binds to chromatin following DNA damage (PubMed:16818604). {ECO:0000269 PubMed:10764811, ECO:0000269 PubMed:16818604}.

Subcellular locations from

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

No data available for Gene Ontology (GO) - Cellular Components for RBBP8 Gene

Pathways & Interactions for RBBP8 Gene

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

Pathways by source for RBBP8 Gene

SIGNOR curated interactions for RBBP8 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

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:0000724 double-strand break repair via homologous recombination TAS --
GO:0000729 DNA double-strand break processing TAS --
GO:0000731 DNA synthesis involved in DNA repair TAS --
genes like me logo Genes that share ontologies with RBBP8: view

Drugs & Compounds for RBBP8 Gene

(1) Additional Compounds for RBBP8 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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

Protein differential expression in normal tissues from HIPED for RBBP8 Gene

This gene is overexpressed in Stomach (38.7), Heart (18.8), and Liver, secretome (11.4).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with RBBP8: view

Protein tissue co-expression partners for RBBP8 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RBBP8 Gene

Orthologs for RBBP8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RBBP8 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RBBP8 35
  • 87.04 (n)
  • 81.23 (a)
RBBP8 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RBBP8 35
  • 88.33 (n)
  • 83 (a)
RBBP8 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rbbp8 35
  • 84.08 (n)
  • 76.79 (a)
Rbbp8 16
Rbbp8 36
  • 77 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RBBP8 35
  • 99.18 (n)
  • 98.88 (a)
RBBP8 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rbbp8 35
  • 82.44 (n)
  • 75.78 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 89 (a)
OneToMany
-- 36
  • 67 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia RBBP8 36
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves RBBP8 35
  • 66.52 (n)
  • 59.34 (a)
RBBP8 36
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RBBP8 36
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rbbp8 35
  • 58.53 (n)
  • 50.6 (a)
Str.7440 35
zebrafish
(Danio rerio)
Actinopterygii Dr.21899 35
rbbp8 36
  • 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
rs1804732 - 22,992,986(+) TCACA(C/T)ATCAC reference, missense
rs34678569 - 22,992,898(+) AAAAA(A/C/G)CATCT reference, missense
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

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

Variation tolerance for RBBP8 Gene

Residual Variation Intolerance Score: 4.01% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.69; 32.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RBBP8 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RBBP8 Gene

Disorders for RBBP8 Gene

MalaCards: The human disease database

(8) MalaCards diseases for RBBP8 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
jawad syndrome
  • microcephaly with mental retardation and digital anomalies
seckel syndrome 2
  • seckel syndrome type 2
seckel syndrome
  • bird-headed dwarfism
pancreatic cancer
  • pancreatic carcinoma, somatic
retinoblastoma
  • retinoblastoma, trilateral
- elite association - COSMIC cancer census association via MalaCards
Search RBBP8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

COM1_HUMAN
  • 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 (PubMed:21799032). Exhibits sensitivity to tamoxifen in certain breast cancer cell lines (PubMed:18171986). {ECO:0000269 PubMed:18171986, ECO:0000269 PubMed:21799032}.
  • 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.

Relevant External Links for RBBP8

Genetic Association Database (GAD)
RBBP8
Human Genome Epidemiology (HuGE) Navigator
RBBP8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RBBP8
genes like me logo Genes that share disorders with RBBP8: view

No data available for Genatlas for RBBP8 Gene

Publications for RBBP8 Gene

  1. Human CtIP promotes DNA end resection. (PMID: 17965729) Sartori A.A. … Jackson S.P. (Nature 2007) 2 3 4 23 67
  2. Molecular cloning and characterization of a novel retinoblastoma- binding protein. (PMID: 9721205) Fusco C. … Zervos A.S. (Genomics 1998) 2 3 23
  3. CtIP mutations cause Seckel and Jawad syndromes. (PMID: 21998596) Jackson S.P. … Borglum A.D. (PLoS Genet. 2011) 2 3
  4. N terminus of CtIP is critical for homologous recombination-mediated double-strand break repair. (PMID: 19759395) Yuan J. … Chen J. (J. Biol. Chem. 2009) 3 23
  5. CtIP-BRCA1 modulates the choice of DNA double-strand-break repair pathway throughout the cell cycle. (PMID: 19357644) Yun M.H. … Hiom K. (Nature 2009) 3 23

Products for RBBP8 Gene

Sources for RBBP8 Gene

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