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MIRAGE
DNA endonuclease RBBP8
Summary
- UniProt ID
- Q99708
- Gene Symbol
-
- CTIP
- RBBP8
- Gene ID
- 5932
- Organism
- Homo sapiens (human)
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
- Reference proteome
- Ubl conjugation
- Zinc
- Gene Ontology (GO)
| GO Term |
|---|
| BRCA1-C complex |
| nucleus |
| intracellular membrane-bounded organelle |
| nucleoplasm |
| transcription repressor complex |
| site of double-strand break |
Sequence
MNISGSSCGSPNSADTSSDFKDLWTKLKECHDREVQGLQVKVTKLKQERILDAQRLEEFFTKNQQLREQQKVLHETIKVLEDRLRAGLCDRCAVTEEHMRKKQQEFENIRQQNLKLITELMNERNTLQEENKKLSEQLQQKIENDQQHQAAELECEEDVIPDSPITAFSFSGVNRLRRKENPHVRYIEQTHTKLEHSVCANEMRKVSKSSTHPQHNPNENEILVADTYDQSQSPMAKAHGTSSYTPDKSSFNLATVVAETLGLGVQEESETQGPMSPLGDELYHCLEGNHKKQPFEESTRNTEDSLRFSDSTSKTPPQEELPTRVSSPVFGATSSIKSGLDLNTSLSPSLLQPGKKKHLKTLPFSNTCISRLEKTRSKSEDSALFTHHSLGSEVNKIIIQSSNKQILINKNISESLGEQNRTEYGKDSNTDKHLEPLKSLGGRTSKRKKTEEESEHEVSCPQASFDKENAFPFPMDNQFSMNGDCVMDKPLDLSDRFSAIQRQEKSQGSETSKNKFRQVTLYEALKTIPKGFSSSRKASDGNCTLPKDSPGEPCSQECIILQPLNKCSPDNKPSLQIKEENAVFKIPLRPRESLETENVLDDIKSAGSHEPIKIQTRSDHGGCELASVLQLNPCRTGKIKSLQNNQDVSFENIQWSIDPGADLSQYKMDVTVIDTKDGSQSKLGGETVDMDCTLVSETVLLKMKKQEQKGEKSSNEERKMNDSLEDMFDRTTHEEYESCLADSFSQAADEEEELSTATKKLHTHGDKQDKVKQKAFVEPYFKGDERETSLQNFPHIEVVRKKEERRKLLGHTCKECEIYYADMPAEEREKKLASCSRHRFRYIPPNTPENFWEVGFPSTQTCMERGYIKEDLDPCPRPKRRQPYNAIFSPKGKEQKT
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 527 |
|
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| 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
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0070013 | Seckel syndrome 2 |
