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DNA endonuclease RBBP8

Summary

UniProt ID: Q99708
Gene Symbol: RBBP8 CTIP
Gene ID: 5932
Organism: Homo sapiens (human)

External Links

PubChem: Q99708
The O-GlcNAc Database: Q99708
Re-Glyco: Q99708

Annotation

Keyword: 3D-structure Alternative splicing Chromosome Coiled coil DNA repair DNA-binding Disease variant Dwarfism Endonuclease Intellectual disability Isopeptide bond Meiosis Metal-binding Mitosis Nucleus Phosphoprotein Proteomics identification Reference proteome Ubl conjugation Zinc

Gene Ontology (GO)

Displaying entries **1 - 5** of 12 in total

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GO Term	Evidence Code	Reference
G1/S transition of mitotic cell cycle
double-strand break repair via homologous recombination	IDA	PMID PMID PMID PMID
double-strand break repair via homologous recombination	IMP	PMID
blastocyst hatching
DNA double-strand break processing involved in repair via single-strand annealing	IMP	PMID PMID

GO Hierarchy

biological process

cellular process [inference]

cell cycle [inference]

meiotic cell cycle

signal transduction [inference]

intracellular signal transduction [inference]

cell cycle checkpoint signaling [inference]

mitotic cell cycle checkpoint signaling [inference]

mitotic G2/M transition checkpoint

metabolic process [inference]

macromolecule metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA double-strand break processing [inference]

DNA double-strand break processing involved in repair via single-strand annealing

DNA repair [inference]

recombinational repair [inference]

double-strand break repair via homologous recombination

double-strand break repair [inference]

double-strand break repair via homologous recombination

DNA recombination [inference]

recombinational repair [inference]

double-strand break repair via homologous recombination

homologous recombination

DNA strand resection involved in replication fork processing

primary metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA double-strand break processing [inference]

DNA double-strand break processing involved in repair via single-strand annealing

DNA repair [inference]

recombinational repair [inference]

double-strand break repair via homologous recombination

double-strand break repair [inference]

double-strand break repair via homologous recombination

DNA recombination [inference]

recombinational repair [inference]

double-strand break repair via homologous recombination

homologous recombination

DNA strand resection involved in replication fork processing

cell cycle process [inference]

cell cycle phase transition [inference]

mitotic cell cycle phase transition [inference]

G1/S transition of mitotic cell cycle

cell cycle G1/S phase transition [inference]

G1/S transition of mitotic cell cycle

mitotic cell cycle process [inference]

mitotic cell cycle checkpoint signaling [inference]

mitotic G2/M transition checkpoint

mitotic cell cycle phase transition [inference]

G1/S transition of mitotic cell cycle

cell division

cellular response to stimulus [inference]

cellular response to stress [inference]

DNA damage response [inference]

DNA repair [inference]

recombinational repair [inference]

double-strand break repair via homologous recombination

double-strand break repair [inference]

double-strand break repair via homologous recombination

reproductive process [inference]

meiotic cell cycle

multicellular organismal process [inference]

organism emergence from protective structure [inference]

hatching [inference]

blastocyst hatching

response to stimulus [inference]

response to stress [inference]

cellular response to stress [inference]

DNA damage response [inference]

DNA repair [inference]

recombinational repair [inference]

double-strand break repair via homologous recombination

double-strand break repair [inference]

double-strand break repair via homologous recombination

cellular response to stimulus [inference]

cellular response to stress [inference]

DNA damage response [inference]

DNA repair [inference]

recombinational repair [inference]

double-strand break repair via homologous recombination

double-strand break repair [inference]

double-strand break repair via homologous recombination

biological regulation [inference]

regulation of biological process [inference]

negative regulation of biological process [inference]

negative regulation of cellular process [inference]

negative regulation of cell cycle [inference]

negative regulation of cell cycle process [inference]

negative regulation of cell cycle phase transition [inference]

cell cycle checkpoint signaling [inference]

mitotic cell cycle checkpoint signaling [inference]

mitotic G2/M transition checkpoint

negative regulation of mitotic cell cycle phase transition [inference]

negative regulation of G2/M transition of mitotic cell cycle [inference]

mitotic G2/M transition checkpoint

negative regulation of cell cycle G2/M phase transition [inference]

negative regulation of G2/M transition of mitotic cell cycle [inference]

mitotic G2/M transition checkpoint

negative regulation of mitotic cell cycle [inference]

mitotic cell cycle checkpoint signaling [inference]

mitotic G2/M transition checkpoint

negative regulation of mitotic cell cycle phase transition [inference]

negative regulation of G2/M transition of mitotic cell cycle [inference]

mitotic G2/M transition checkpoint

regulation of cellular process [inference]

signal transduction [inference]

intracellular signal transduction [inference]

cell cycle checkpoint signaling [inference]

mitotic cell cycle checkpoint signaling [inference]

mitotic G2/M transition checkpoint

negative regulation of cellular process [inference]

negative regulation of cell cycle [inference]

negative regulation of cell cycle process [inference]

negative regulation of cell cycle phase transition [inference]

cell cycle checkpoint signaling [inference]

mitotic cell cycle checkpoint signaling [inference]

mitotic G2/M transition checkpoint

negative regulation of mitotic cell cycle phase transition [inference]

negative regulation of G2/M transition of mitotic cell cycle [inference]

mitotic G2/M transition checkpoint

negative regulation of cell cycle G2/M phase transition [inference]

negative regulation of G2/M transition of mitotic cell cycle [inference]

mitotic G2/M transition checkpoint

negative regulation of mitotic cell cycle [inference]

mitotic cell cycle checkpoint signaling [inference]

mitotic G2/M transition checkpoint

negative regulation of mitotic cell cycle phase transition [inference]

negative regulation of G2/M transition of mitotic cell cycle [inference]

mitotic G2/M transition checkpoint

regulation of cell cycle [inference]

regulation of mitotic cell cycle [inference]

negative regulation of mitotic cell cycle [inference]

mitotic cell cycle checkpoint signaling [inference]

mitotic G2/M transition checkpoint

negative regulation of mitotic cell cycle phase transition [inference]

negative regulation of G2/M transition of mitotic cell cycle [inference]

mitotic G2/M transition checkpoint

regulation of mitotic cell cycle phase transition [inference]

regulation of G2/M transition of mitotic cell cycle [inference]

negative regulation of G2/M transition of mitotic cell cycle [inference]

mitotic G2/M transition checkpoint

negative regulation of mitotic cell cycle phase transition [inference]

negative regulation of G2/M transition of mitotic cell cycle [inference]

mitotic G2/M transition checkpoint

regulation of cell cycle process [inference]

negative regulation of cell cycle process [inference]

negative regulation of cell cycle phase transition [inference]

cell cycle checkpoint signaling [inference]

mitotic cell cycle checkpoint signaling [inference]

mitotic G2/M transition checkpoint

negative regulation of mitotic cell cycle phase transition [inference]

negative regulation of G2/M transition of mitotic cell cycle [inference]

mitotic G2/M transition checkpoint

negative regulation of cell cycle G2/M phase transition [inference]

negative regulation of G2/M transition of mitotic cell cycle [inference]

mitotic G2/M transition checkpoint

regulation of cell cycle phase transition [inference]

negative regulation of cell cycle phase transition [inference]

cell cycle checkpoint signaling [inference]

mitotic cell cycle checkpoint signaling [inference]

mitotic G2/M transition checkpoint

negative regulation of mitotic cell cycle phase transition [inference]

negative regulation of G2/M transition of mitotic cell cycle [inference]

mitotic G2/M transition checkpoint

negative regulation of cell cycle G2/M phase transition [inference]

negative regulation of G2/M transition of mitotic cell cycle [inference]

mitotic G2/M transition checkpoint

regulation of mitotic cell cycle phase transition [inference]

regulation of G2/M transition of mitotic cell cycle [inference]

negative regulation of G2/M transition of mitotic cell cycle [inference]

mitotic G2/M transition checkpoint

negative regulation of mitotic cell cycle phase transition [inference]

negative regulation of G2/M transition of mitotic cell cycle [inference]

mitotic G2/M transition checkpoint

regulation of cell cycle G2/M phase transition [inference]

regulation of G2/M transition of mitotic cell cycle [inference]

negative regulation of G2/M transition of mitotic cell cycle [inference]

mitotic G2/M transition checkpoint

negative regulation of cell cycle G2/M phase transition [inference]

negative regulation of G2/M transition of mitotic cell cycle [inference]

mitotic G2/M transition checkpoint

negative regulation of cell cycle [inference]

negative regulation of cell cycle process [inference]

negative regulation of cell cycle phase transition [inference]

cell cycle checkpoint signaling [inference]

mitotic cell cycle checkpoint signaling [inference]

mitotic G2/M transition checkpoint

negative regulation of mitotic cell cycle phase transition [inference]

negative regulation of G2/M transition of mitotic cell cycle [inference]

mitotic G2/M transition checkpoint

negative regulation of cell cycle G2/M phase transition [inference]

negative regulation of G2/M transition of mitotic cell cycle [inference]

mitotic G2/M transition checkpoint

negative regulation of mitotic cell cycle [inference]

mitotic cell cycle checkpoint signaling [inference]

mitotic G2/M transition checkpoint

negative regulation of mitotic cell cycle phase transition [inference]

negative regulation of G2/M transition of mitotic cell cycle [inference]

mitotic G2/M transition checkpoint

Displaying entries **1 - 5** of 9 in total

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GO Term	Evidence Code	Reference
nucleus	EXP	PMID PMID
nucleus	NAS	PMID
nucleus	TAS	PMID
nucleus	IEA	GO_REF
nucleoplasm	TAS	Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome

GO Hierarchy

cellular component

protein-containing complex [inference]

transcription regulator complex [inference]

transcription repressor complex

nuclear protein-containing complex [inference]

BRCA1-C complex

cellular anatomical structure [inference]

nucleoplasm

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

site of DNA damage [inference]

site of double-strand break

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	Reference
single-stranded DNA endonuclease activity	IMP	PMID PMID PMID
damaged DNA binding	IDA	PMID
damaged DNA binding	IBA	GO_REF
transcription corepressor activity	IDA	PMID
identical protein binding	IPI	PMID

GO Hierarchy

molecular function

catalytic activity [inference]

hydrolase activity [inference]

hydrolase activity, acting on ester bonds [inference]

single-stranded DNA endonuclease activity

catalytic activity, acting on a nucleic acid [inference]

nuclease activity [inference]

endonuclease activity [inference]

DNA endonuclease activity [inference]

single-stranded DNA endonuclease activity

DNA nuclease activity [inference]

DNA endonuclease activity [inference]

single-stranded DNA endonuclease activity

catalytic activity, acting on DNA [inference]

DNA nuclease activity [inference]

DNA endonuclease activity [inference]

single-stranded DNA endonuclease activity

binding [inference]

nucleic acid binding [inference]

DNA binding [inference]

damaged DNA binding

protein binding [inference]

transcription factor binding [inference]

DNA-binding transcription factor binding [inference]

RNA polymerase II-specific DNA-binding transcription factor binding

identical protein binding

small molecule binding [inference]

ion binding [inference]

cation binding [inference]

metal ion binding

transcription regulator activity [inference]

transcription coregulator activity [inference]

transcription corepressor activity

Gene Ontology information from UniProt.

Annotation information from UniProt.

Sequence

MNISGSSCGSPNSADTSSDFKDLWTKLKECHDREVQGLQVKVTKLKQERILDAQRLEEFFTKNQQLREQQKVLHETIKVLEDRLRAGLCDRCAVTEEHMRKKQQEFENIRQQNLKLITELMNERNTLQEENKKLSEQLQQKIENDQQHQAAELECEEDVIPDSPITAFSFSGVNRLRRKENPHVRYIEQTHTKLEHSVCANEMRKVSKSSTHPQHNPNENEILVADTYDQSQSPMAKAHGTSSYTPDKSSFNLATVVAETLGLGVQEESETQGPMSPLGDELYHCLEGNHKKQPFEESTRNTEDSLRFSDSTSKTPPQEELPTRVSSPVFGATSSIKSGLDLNTSLSPSLLQPGKKKHLKTLPFSNTCISRLEKTRSKSEDSALFTHHSLGSEVNKIIIQSSNKQILINKNISESLGEQNRTEYGKDSNTDKHLEPLKSLGGRTSKRKKTEEESEHEVSCPQASFDKENAFPFPMDNQFSMNGDCVMDKPLDLSDRFSAIQRQEKSQGSETSKNKFRQVTLYEALKTIPKGFSSSRKASDGNCTLPKDSPGEPCSQECIILQPLNKCSPDNKPSLQIKEENAVFKIPLRPRESLETENVLDDIKSAGSHEPIKIQTRSDHGGCELASVLQLNPCRTGKIKSLQNNQDVSFENIQWSIDPGADLSQYKMDVTVIDTKDGSQSKLGGETVDMDCTLVSETVLLKMKKQEQKGEKSSNEERKMNDSLEDMFDRTTHEEYESCLADSFSQAADEEEELSTATKKLHTHGDKQDKVKQKAFVEPYFKGDERETSLQNFPHIEVVRKKEERRKLLGHTCKECEIYYADMPAEEREKKLASCSRHRFRYIPPNTPENFWEVGFPSTQTCMERGYIKEDLDPCPRPKRRQPYNAIFSPKGKEQKT

N : N-glycosylation Site
___ : Potential Sequon

Glycosylation Sites

Displaying **all 2** entries
Position	Description	PubMed ID	GlyTouCan ID	Source
370		31492838 34071949 40307207	G49108TO	The O-GlcNAc Database
527		31492838 34071949 40307207	G49108TO	The O-GlcNAc Database

Feature

: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt

Pathway

Displaying entries **1 - 10** of 17 in total

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Pathway Name	Organism
Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function	Homo sapiens
Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function	Homo sapiens
Defective homologous recombination repair (HRR) due to BRCA1 loss of function	Homo sapiens
G2/M DNA damage checkpoint	Homo sapiens
HDR through Homologous Recombination (HRR)	Homo sapiens
HDR through MMEJ (alt-NHEJ)	Homo sapiens
HDR through Single Strand Annealing (SSA)	Homo sapiens
Homologous DNA Pairing and Strand Exchange	Homo sapiens
Impaired BRCA2 binding to PALB2	Homo sapiens
Impaired BRCA2 binding to RAD51	Homo sapiens

Disease

Displaying 1 entry
DO ID	Disease Name	Source
DOID:0070013	Seckel syndrome 2	Alliance of Genome Resources

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

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Summary

External Links

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International Collaboration

Acknowledgements