Cohesin complex - Cornelia de Lange syndrome (Homo sapiens)

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9796477728SMC1AChromatidMitotic Chromosome CohesionChromatid 1Centromere cohesinWAPL binding to PDS5 activates removal of cohesinTelophase/G1 phase1PPP2R1A3PPP2R5CPPP2R5BPPP2R5APPP2CBPPP2CAPPP2R5EPTPAPPP2R1BPPP2R5DSororinSMC3SMC3PDS5BSMC1ASMC3STAG2SororinHDAC8STAG2SeparinSororinAPCCDK1SMC1ASecurinRAD21SGO1SMC3S/G2 phase3Chromatid 1Chromatid 2SMC1ASMC3RAD21STAG2Prophase/Metaphase3SMC1ARAD21Chromatid 1Chromatid 2Metaphase/AnaphaseSMC1A3SMC3RAD21STAG2Chromatid 1SororinPDS5BPDS5AWAPLSMC1ASMC3STAG2NIPBLMAU2RAD21WAPLPDS5ASMC1ASMC3RAD21STAG2Chromatid 1Chromatid 2ESCO1ESCO2PDS5APDS5BChromatid 1Chromatid 2PLK1SororinAurora kinase BChromatid 1Chromatid 2PDS5BPDS5AAAChromatid 1Chromatid 2ASTAG2RAD21SMC1ASMC3ASMC3HDAC8ALegendSMC355555Anaphase I at centromeresMetaphase IIAnaphase IIChromatid 1Metaphase ISecurinAPCESCO2SGO2REC8REC8UnknownSeparinSeparinAPCUnknownSecurinHDAC8ESCO1REC8Meiotic Chromosome Cohesion5SMC3SMC1BSTAG3REC8Chromatid 2SMC3SMC1BSTAG3REC8Chromatid 1Chromatid 2Anaphase I at chromatid armsSMC3SMC1BSTAG3REC8SMC3SMC1BSTAG3REC8PPP2R1APPP2R5CPPP2R5BPPP2R5APPP2CBPPP2CAPPP2R5EPTPAPPP2R1BPPP2R5DSMC3SMC1BSTAG3REC8Chromatid 1Chromatid 2Chromatid 1Chromatid 2Chromatid 1Chromatid 2SMC3SMC1BSTAG3REC8Chromatid 1Chromatid 2ASMC3SMC3ASMC1BChromatidLegendSMC3SMC3STAG2


Cohesin complex workings during mitotic and meiotic cell cycles.

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  1. Al-Jomah N, Mukololo L, Anjum A, Al Madadha M, Patel R; ''Pds5A and Pds5B Display Non-redundant Functions in Mitosis and Their Loss Triggers Chk1 Activation'';, 2020 PubMed Europe PMC Scholia
  2. Hauf S, Roitinger E, Koch B, Dittrich CM, Mechtler K, Peters JM; ''Dissociation of Cohesin from Chromosome Arms and Loss of Arm Cohesion during Early Mitosis Depends on Phosphorylation of SA2'';, 2005 PubMed Europe PMC Scholia
  3. Liu J, Krantz ID; ''Cornelia de Lange syndrome, cohesin, and beyond'';, 2009 PubMed Europe PMC Scholia
  4. Muir KW, Kschonsak M, Li Y, Metz J, Haering CH, Panne D; ''Structure of the Pds5-Scc1 Complex and Implications for Cohesin Function'';, 2016 PubMed Europe PMC Scholia
  5. Ishiguro KI; ''The cohesin complex in mammalian meiosis.''; Genes Cells, 2019 PubMed Europe PMC Scholia
  6. Gabriela Whelan, Emanuel Kreidl, Gordana Wutz, Alexander Egner, Jan-Micheal Peters, Gregor Eichele; ''Cohesin acetyltransferase Esco2 is a cell viability factor and is required for cohesion in pericentric heterochromatin'';, 2011 PubMed Europe PMC Scholia
  7. Tomoko Nishiyama, Martina M Sykora, Pim J Huis in 't Veld, Jan-Michael Peters; ''Aurora B and Cdk1 mediate Wapl activation and release of acetylated cohesin from chromosomes by phosphorylating Sororin'';, 2013 PubMed Europe PMC Scholia
  8. Zhang Q, Liu H; ''Functioning mechanisms of Shugoshin-1 in centromeric cohesion during mitosis.''; Essays Biochem, 2020 PubMed Europe PMC Scholia
  9. Deardorff MA, Bando M, Nakato R, Watrin E, Itoh T, Minamino M, Saitoh K, Komata M, Katou Y, Clark D, Cole KE, De Baere E, Decroos C, Di Donato N, Ernst S, Francey LJ, Gyftodimou Y, Hirashima K, Hullings M, Ishikawa Y, Jaulin C, Kaur M, Kiyono T, Lombardi PM, Magnaghi-Jaulin L, Mortier GR, Nozaki N, Petersen MB, Seimiya H, Siu VM, Suzuki Y, Takagaki K, Wilde JJ, Willems PJ, Prigent C, Gillessen-Kaesbach G, Christianson DW, Kaiser FJ, Jackson LG, Hirota T, Krantz ID, Shirahige K; ''HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.''; Nature, 2012 PubMed Europe PMC Scholia


119395view10:48, 27 June 2021EweitzOntology Term : 'Cornelia de Lange syndrome' added !
119394view10:48, 27 June 2021EweitzModified title
119107view12:36, 17 June 2021IrkilmezANew pathway

External references


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NameTypeDatabase referenceComment
APCGeneProductENSG00000134982 (Ensembl)
Aurora kinase BProteinQ96GD4 (Uniprot-TrEMBL)
CDK1GeneProductENSG00000170312 (Ensembl)
ESCO1GeneProductENSG00000141446 (Ensembl)
ESCO2GeneProductENSG00000171320 (Ensembl)
HDAC8GeneProductENSG00000147099 (Ensembl)
MAU2GeneProductENSG00000129933 (Ensembl)
NIPBLGeneProductENSG00000164190 (Ensembl)
PDS5AGeneProductENSG00000121892 (Ensembl)
PDS5BGeneProductENSG00000083642 (Ensembl)
PLK1GeneProductENSG00000166851 (Ensembl)
PPP2CAGeneProductENSG00000113575 (Ensembl)
PPP2CBGeneProductENSG00000104695 (Ensembl)
PPP2R1AGeneProductENSG00000105568 (Ensembl)
PPP2R1BGeneProductENSG00000137713 (Ensembl)
PPP2R5AGeneProductENSG00000066027 (Ensembl)
PPP2R5BGeneProductPPP2R5B (HGNC)
PPP2R5CGeneProductENSG00000078304 (Ensembl)
PPP2R5DGeneProductENSG00000112640 (Ensembl)
PPP2R5EGeneProductENSG00000154001 (Ensembl)
PTPAGeneProductENSG00000119383 (Ensembl)
RAD21GeneProductENSG00000164754 (Ensembl)
REC8GeneProductENSG00000100918 (Ensembl) Phosphorylation of REC8 makes it more susceptible to separase cleavage
SGO1GeneProductENSG00000129810 (Ensembl)
SGO2GeneProductENSG00000163535 (Ensembl)
SMC1AGeneProductENSG00000072501 (Ensembl)
SMC1BGeneProductENSG00000077935 (Ensembl)
SMC3GeneProductENSG00000108055 (Ensembl)
SMC3GeneProductSMC3 (HGNC)
STAG2GeneProductENSG00000101972 (Ensembl)
STAG3GeneProductENSG00000066923 (Ensembl)
SecurinProteinO95997 (Uniprot-TrEMBL)
SeparinProteinQ14674 (Uniprot-TrEMBL)
SororinProteinB5MBX0 (Uniprot-TrEMBL)
SororinProteinQ96FF9 (Uniprot-TrEMBL)
WAPLGeneProductENSG00000062650 (Ensembl)

Annotated Interactions

No annotated interactions

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