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Rbbp8
Gene Detail
 Symbol
Name
ID
Rbbp8
retinoblastoma binding protein 8
MGI:2442995
Synonyms 9930104E21Rik, CtIP
Feature Type protein coding gene
Genetic Map
Chromosome 18
5.85 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr18:11633276-11743207 bp, + strand
From NCBI annotation of GRCm38

  109932 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:28546  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken

Gene Tree: Rbbp8

Human
homologs
Human Homolog RBBP8, retinoblastoma binding protein 8
NCBI Gene ID 5932
neXtProt AC  NX_Q99708
Human Synonyms  COM1, CTIP, JWDS, RIM, SAE2, SCKL2
Human Chr (Location)  18q11.2; chr18:22914121-23026488 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human RBBP8
Alleles
and
phenotypes
All alleles(7) : Gene trapped(3) Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
Embryos homozygous for a knock-out allele die at E4.0 as blastocysts fail to enter S phase and arrest at G1, leading to elevated cell death. Heterozygous mutant mice display a shortened lifespan due to formation of multiple tumors, mostly large lymphomas of both B and T cells.
 
Gene Ontology
(GO)
classifications
All GO classifications: (28 annotations)
Process blastocyst hatching, cell cycle, ...
Component nucleus, transcriptional repressor complex
Function damaged DNA binding, DNA binding, ...
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (3)    Tissues (1)   
Theiler Stages: 15
Assay TypeResults
Western blot 3
cDNA source data(56)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(56) cDNA(56)
Microarray probesets(4)
Other database
links
Ensembl Gene ModelENSMUSG00000041238 (Evidence)
Entrez Gene225182 (Evidence)
UniGene154275
DFCITC1578868, TC1592773, TC1609401, TC1618538, TC1766954
DoTSDT.101281482, DT.50315538, DT.91353758, DT.91579205, DT.97380918, DT.99844323, DT.99844327
NIA Mouse Gene IndexU018416
EC3.1.-.-
Consensus CDS ProjectCCDS37738.1
International Mouse Knockout Project StatusRbbp8
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 225182 NCBI Gene Model | MGI Sequence Detail 109932 C57BL/6J ±  kb
transcript NM_001081223 RefSeq | MGI Sequence Detail 3618 C57BL/6 
polypeptide Q80YR6 UniProt | EBI | MGI Sequence Detail 893 Not Applicable 

For the selected sequences
All sequences(48) RefSeq(9) UniProt(3)
Polymorphisms SNPs within 2kb(502 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR013882 DNA repair protein Sae2/CtIP
InterPro IPR019518 Tumour-suppressor protein CtIP N-terminal
Protein Ontology PR:000013780 DNA endonuclease RBBP8
Graphical View of Protein Domain Structure
References (Earliest) J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
(Latest) J:197743 Reczek CR, et al., The interaction between CtIP and BRCA1 is not essential for resection-mediated DNA repair or tumor suppression. J Cell Biol. 2013 May 27;201(5):693-707
All references(34)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory