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-Kutmon

Activity

last edited

Discuss this pathway

Check for ongoing discussions or start your own.

Cited In

Are you planning to include this pathway in your next publication? See How to Cite and add a link here to your paper once it's online.

Organisms

Homo sapiens

Communities

Annotations

Disease Ontology

Cornelia de Lange syndrome

Pathway Ontology

disease pathway

Participants

Label 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

  1. 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
  2. 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