NIPBL role in DNA damage - Cornelia de Lange syndrome (WP5119)
Homo sapiens
Recruitment of cohesin subunit NIPBL after DNA damage.
Authors
Alp Irkilmez , Eric Weitz , Lars Willighagen , and Martina Summer-KutmonActivity
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Organisms
Homo sapiensCommunities
Annotations
Disease Ontology
Cornelia de Lange syndromePathway Ontology
disease pathwayLabel | Type | Compact URI | Comment |
---|---|---|---|
CBX3 | GeneProduct | ensembl:ENSG00000122565 | |
NIPBL | GeneProduct | ensembl:ENSG00000164190 | |
ATM | GeneProduct | ensembl:ENSG00000149311 | |
ATR | GeneProduct | ensembl:ENSG00000175054 | |
RNF8 | GeneProduct | ensembl:ENSG00000112130 | |
RNF168 | GeneProduct | ensembl:ENSG00000163961 | |
MDC1 | GeneProduct | ensembl:ENSG00000137337 | |
Histone H2AX | Protein | uniprot:P16104 |
References
- Recruitment of the cohesin loading factor NIPBL to DNA double-strand breaks depends on MDC1, RNF168 and HP1γ in human cells. Oka Y, Suzuki K, Yamauchi M, Mitsutake N, Yamashita S. Biochem Biophys Res Commun. 2011 Aug 12;411(4):762–7. PubMed Europe PMC Scholia
- Independent mechanisms recruit the cohesin loader protein NIPBL to sites of DNA damage. Bot C, Pfeiffer A, Giordano F, Manjeera DE, Dantuma NP, Ström L. J Cell Sci. 2017 Mar 15;130(6):1134–46. PubMed Europe PMC Scholia