• Gene id: 5932

Gene Summary

• Gene Symbol: RBBP8   Gene   UCSC   Ensembl
• Aliases: COM1, CTIP, JWDS, RIM, SAE2, SCKL2
• Gene name: RB binding protein 8, endonuclease
• Alternate names: DNA endonuclease RBBP8, CTBP-interacting protein, RBBP-8, retinoblastoma binding protein 8, sporulation in the absence of SPO11 protein 2 homolog,
• Gene location: 18q11.2 (22914120: 23026485)     Exons: 24     NC_000018.10
• Gene summary(Entrez): 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 CTB
• OMIM: 604124

Protein Summary

• Protein general information: Q99708  
  • Name: DNA endonuclease RBBP8 (EC 3.1. . ) (CtBP interacting protein) (CtIP) (Retinoblastoma binding protein 8) (RBBP 8) (Retinoblastoma interacting protein and myosin like) (RIM) (Sporulation in the absence of SPO11 protein 2 homolog) (SAE2)
  • Length: 897  
  • Mass: 101942
  • Tissue specificity: Expressed in ER-positive breast cancer lines, but tends to be down-regulated ER-negative cells (at protein level). {ECO
• Sequence:

  MNISGSSCGSPNSADTSSDFKDLWTKLKECHDREVQGLQVKVTKLKQERILDAQRLEEFFTKNQQLREQQKVLHE
  TIKVLEDRLRAGLCDRCAVTEEHMRKKQQEFENIRQQNLKLITELMNERNTLQEENKKLSEQLQQKIENDQQHQA
  AELECEEDVIPDSPITAFSFSGVNRLRRKENPHVRYIEQTHTKLEHSVCANEMRKVSKSSTHPQHNPNENEILVA
  DTYDQSQSPMAKAHGTSSYTPDKSSFNLATVVAETLGLGVQEESETQGPMSPLGDELYHCLEGNHKKQPFEESTR
  NTEDSLRFSDSTSKTPPQEELPTRVSSPVFGATSSIKSGLDLNTSLSPSLLQPGKKKHLKTLPFSNTCISRLEKT
  RSKSEDSALFTHHSLGSEVNKIIIQSSNKQILINKNISESLGEQNRTEYGKDSNTDKHLEPLKSLGGRTSKRKKT
  EEESEHEVSCPQASFDKENAFPFPMDNQFSMNGDCVMDKPLDLSDRFSAIQRQEKSQGSETSKNKFRQVTLYEAL
  KTIPKGFSSSRKASDGNCTLPKDSPGEPCSQECIILQPLNKCSPDNKPSLQIKEENAVFKIPLRPRESLETENVL
  DDIKSAGSHEPIKIQTRSDHGGCELASVLQLNPCRTGKIKSLQNNQDVSFENIQWSIDPGADLSQYKMDVTVIDT
  KDGSQSKLGGETVDMDCTLVSETVLLKMKKQEQKGEKSSNEERKMNDSLEDMFDRTTHEEYESCLADSFSQAADE
  EEELSTATKKLHTHGDKQDKVKQKAFVEPYFKGDERETSLQNFPHIEVVRKKEERRKLLGHTCKECEIYYADMPA
  EEREKKLASCSRHRFRYIPPNTPENFWEVGFPSTQTCMERGYIKEDLDPCPRPKRRQPYNAIFSPKGKEQKT

• Structural information:
  • Interpro: IPR019518  IPR013882  IPR033594  IPR033316  
  • PDB: 2L4Z 4D2H
  • PDBsum: 2L4Z 4D2H
  • DIP: 24244
  • STRING: ENSP00000382628
• Other Databases: GeneCards:  RBBP8  Malacards:  RBBP8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000014	single-stranded DNA endodeoxyribonuclease activity	IBA	molecular function
GO:0000403	Y-form DNA binding	IBA	molecular function
GO:0000724	double-strand break repair via homologous recombination	IBA	biological process
GO:0003684	damaged DNA binding	IBA	molecular function
GO:0003697	single-stranded DNA binding	IBA	molecular function
GO:0035861	site of double-strand break	IBA	cellular component
GO:0000406	double-strand/single-strand DNA junction binding	IBA	molecular function
GO:0003690	double-stranded DNA binding	IBA	molecular function
GO:0010792	DNA double-strand break processing involved in repair via single-strand annealing	IBA	biological process
GO:0070336	flap-structured DNA binding	IBA	molecular function
GO:0003684	damaged DNA binding	IDA	molecular function
GO:0010792	DNA double-strand break processing involved in repair via single-strand annealing	IMP	biological process
GO:0010792	DNA double-strand break processing involved in repair via single-strand annealing	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000014	single-stranded DNA endodeoxyribonuclease activity	IMP	molecular function
GO:0000014	single-stranded DNA endodeoxyribonuclease activity	IMP	molecular function
GO:0004519	endonuclease activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0010792	DNA double-strand break processing involved in repair via single-strand annealing	IEA	biological process
GO:0000724	double-strand break repair via homologous recombination	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006281	DNA repair	IEA	biological process
GO:0004519	endonuclease activity	IEA	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0051301	cell division	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0007049	cell cycle	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0006281	DNA repair	TAS	biological process
GO:0006357	regulation of transcription by RNA polymerase II	TAS	biological process
GO:0000724	double-strand break repair via homologous recombination	TAS	biological process
GO:0000729	DNA double-strand break processing	TAS	biological process
GO:1901796	regulation of signal transduction by p53 class mediator	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006260	DNA replication	TAS	biological process
GO:0006260	DNA replication	TAS	biological process
GO:0070317	negative regulation of G0 to G1 transition	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001835	blastocyst hatching	IEA	biological process
GO:0000082	G1/S transition of mitotic cell cycle	IEA	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0003714	transcription corepressor activity	IDA	molecular function
GO:0001103	RNA polymerase II repressing transcription factor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0017053	transcription repressor complex	IDA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:1903507	negative regulation of nucleic acid-templated transcription	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa03440	Homologous recombination

Diseases

Associated diseases	References
Seckel syndrome	KEGG:H00992
Seckel syndrome	KEGG:H00992
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881