Cohesin complex - Cornelia de Lange syndrome (WP5117)

Homo sapiens

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Cohesin complex workings during mitotic and meiotic cell cycles.

Authors

Alp Irkilmez , Eric Weitz , and Martina Summer-Kutmon

Activity

last edited

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Cited In

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Organisms

Homo sapiens

Communities

Annotations

Disease Ontology

Cornelia de Lange syndrome

Pathway Ontology

disease pathway

Participants
Query Drugst.One

Label Type Compact URI Comment
PPP2R1A GeneProduct ensembl:ENSG00000105568
PPP2R5C GeneProduct ensembl:ENSG00000078304
PPP2R5B GeneProduct hgnc.symbol:PPP2R5B
PPP2R5A GeneProduct ensembl:ENSG00000066027
PPP2CB GeneProduct ensembl:ENSG00000104695
PPP2CA GeneProduct ensembl:ENSG00000113575
PPP2R5E GeneProduct ensembl:ENSG00000154001
PTPA GeneProduct ensembl:ENSG00000119383
PPP2R1B GeneProduct ensembl:ENSG00000137713
PPP2R5D GeneProduct ensembl:ENSG00000112640
SMC3 GeneProduct ensembl:ENSG00000108055
PDS5B GeneProduct ensembl:ENSG00000083642
SMC1A GeneProduct ensembl:ENSG00000072501
SMC3 GeneProduct hgnc.symbol:SMC3
STAG2 GeneProduct ensembl:ENSG00000101972
HDAC8 GeneProduct ensembl:ENSG00000147099
APC GeneProduct ensembl:ENSG00000134982
CDK1 GeneProduct ensembl:ENSG00000170312
RAD21 GeneProduct ensembl:ENSG00000164754
SGO1 GeneProduct ensembl:ENSG00000129810
PDS5A GeneProduct ensembl:ENSG00000121892
WAPL GeneProduct ensembl:ENSG00000062650
NIPBL GeneProduct ensembl:ENSG00000164190
MAU2 GeneProduct ensembl:ENSG00000129933
ESCO1 GeneProduct ensembl:ENSG00000141446
ESCO2 GeneProduct ensembl:ENSG00000171320
PLK1 GeneProduct ensembl:ENSG00000166851
SGO2 GeneProduct ensembl:ENSG00000163535
REC8 GeneProduct ensembl:ENSG00000100918
SMC1B GeneProduct ensembl:ENSG00000077935
STAG3 GeneProduct ensembl:ENSG00000066923
REC8 GeneProduct ensembl:ENSG00000100918 Phosphorylation of REC8 makes it more susceptible to separase cleavage
Sororin Protein uniprot:Q96FF9
Separin Protein uniprot:Q14674
Securin Protein uniprot:O95997
Sororin Protein uniprot:B5MBX0
Aurora kinase B Protein uniprot:Q96GD4

References

  1. Dissociation of cohesin from chromosome arms and loss of arm cohesion during early mitosis depends on phosphorylation of SA2. Hauf S, Roitinger E, Koch B, Dittrich CM, Mechtler K, Peters JM. PLoS Biol. 2005 Mar;3(3):e69. PubMed Europe PMC Scholia
  2. Cornelia de Lange syndrome, cohesin, and beyond. Liu J, Krantz ID. Clin Genet. 2009 Oct;76(4):303–14. PubMed Europe PMC Scholia
  3. Cohesin acetyltransferase Esco2 is a cell viability factor and is required for cohesion in pericentric heterochromatin. Whelan G, Kreidl E, Wutz G, Egner A, Peters JM, Eichele G. EMBO J. 2012 Jan 4;31(1):71–82. PubMed Europe PMC Scholia
  4. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Deardorff MA, Bando M, Nakato R, Watrin E, Itoh T, Minamino M, et al. Nature. 2012 Sep 13;489(7415):313–7. PubMed Europe PMC Scholia
  5. Aurora B and Cdk1 mediate Wapl activation and release of acetylated cohesin from chromosomes by phosphorylating Sororin. Nishiyama T, Sykora MM, Huis in ’t Veld PJ, Mechtler K, Peters JM. Proc Natl Acad Sci U S A. 2013 Aug 13;110(33):13404–9. PubMed Europe PMC Scholia
  6. Structure of the Pds5-Scc1 Complex and Implications for Cohesin Function. Muir KW, Kschonsak M, Li Y, Metz J, Haering CH, Panne D. Cell Rep. 2016 Mar 8;14(9):2116–26. PubMed Europe PMC Scholia
  7. The cohesin complex in mammalian meiosis. Ishiguro KI. Genes Cells. 2019 Jan;24(1):6–30. PubMed Europe PMC Scholia
  8. Functioning mechanisms of Shugoshin-1 in centromeric cohesion during mitosis. Zhang Q, Liu H. Essays Biochem. 2020 Sep 4;64(2):289–97. PubMed Europe PMC Scholia
  9. Pds5A and Pds5B Display Non-redundant Functions in Mitosis and Their Loss Triggers Chk1 Activation. Al-Jomah N, Mukololo L, Anjum A, Al Madadha M, Patel R. Front Cell Dev Biol. 2020 Jul 14;8:531. PubMed Europe PMC Scholia