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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; 1 western clawed frog

HCOP human homology predictions: RBBP8
Gene Tree: Rbbp8

Human
homologs
RBBP8, retinoblastoma binding protein 8
Orthology source: HGNC, HomoloGene

IDs:
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.p2

Disease Associations: (2) Diseases Associated with Human RBBP8

Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Gene trapped(3) Targeted(4)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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.
 
Interactions
Rbbp8 interacts with 110 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (32 annotations)
Process blastocyst hatching, cell cycle, ...
Component nucleolus, nucleoplasm, ...
Function damaged DNA binding, DNA binding, ...
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (3)    Tissues (1)    Tissue x Stage Matrix (view)
Assay TypeResults
Western blot 3
cDNA source data(56)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase rbbp8 ; ZFIN rbbp8    NEW 
Molecular
reagents
All nucleic(56) cDNA(56)
Microarray probesets(4)
Other database
links
Ensembl Gene Model ENSMUSG00000041238 (Evidence)
Entrez Gene 225182 (Evidence)
UniGene 154275
DFCI TC1578868, TC1618538, TC1609401, TC1766954, TC1592773
DoTS DT.97380918, DT.91353758, DT.99844327, DT.99844323, DT.91579205, DT.50315538, DT.101281482
NIA Mouse Gene Index U018416
EC 3.1.-.-
Consensus CDS Project CCDS37738.1
International Mouse Phenotyping Consortium Status Rbbp8
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:213733 Polato F, et al., CtIP-mediated resection is essential for viability and can operate independently of BRCA1. J Exp Med. 2014 Jun 2;211(6):1027-36
All references(35)

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
07/21/2015
MGI 5.22
The Jackson Laboratory