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; 1 zebrafish

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; chr18:20513295-20606449 (+)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human RBBP8

Alleles and phenotypes

All alleles(4) : Targeted(1) Gene trapped(3)
 

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: (23 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 Type	Results
Western blot	3

cDNA source data(54)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(54) cDNA(54)
Microarray probesets(4)

Other database links

Ensembl Gene Model	ENSMUSG00000041238 (Evidence)
Entrez Gene	225182 (Evidence)
UniGene	154275
DFCI	TC1578868, TC1592773, TC1609401, TC1618538, TC1766954
DoTS	DT.101281482, DT.50315538, DT.91353758, DT.91579205, DT.97380918, DT.99844323, DT.99844327
NIA Mouse Gene Index	U018416
EC	3.1.-.-
Consensus CDS Project	CCDS37738.1
International Mouse Knockout Project Status	Rbbp8

Sequences

Length	Strain/Species
genomic	225182	NCBI Gene Model | MGI Sequence Detail	109932	C57BL/6J
transcript	NM_001081223	RefSeq | MGI Sequence Detail	3618	C57BL/6
polypeptide	Q80YR6	UniProt | EBI | MGI Sequence Detail	893	Not Applicable

All sequences(46) RefSeq(7) UniProt(3)

Polymorphisms

SNPs(231 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:186644 Nakamura K, et al., Prolyl Isomerase Pin1 Regulates Neuronal Differentiation via beta-Catenin. Mol Cell Biol. 2012 Aug;32(15):2966-78
All references(31)