Disease-gene associations mined from literature

Literature associating SGOL1 and chronic atrial and intestinal dysrhythmia

SGOL1 [ENSP00000263753]

Serologically defined breast cancer antigen NY-BR-85; Plays a central role in chromosome cohesion during mitosis by preventing premature dissociation of cohesin complex from centromeres after prophase, when most of cohesin complex dissociates from chromosomes arms. May act by preventing phosphorylation of the STAG2 subunit of cohesin complex at the centromere, ensuring cohesin persistence at centromere until cohesin cleavage by ESPL1/separase at anaphase. Essential for proper chromosome segregation during mitosis and this function requires interaction with PPP2R1A. Its phosphorylated form is necessary for chromosome congression and for the proper attachment of spindle microtubule to the kinetochore. Necessary for kinetochore localization of PLK1 and CENPF. May play a role in the tension sensing mechanism of the spindle-assembly checkpoint by regulating PLK1 kinetochore affinity. Isoform 3 plays a role in maintaining centriole cohesion involved in controlling spindle pole integrity. Involved in centromeric enrichment of AUKRB in prometaphase; Belongs to the shugoshin family.

Synonyms:  SGOL1,  SGOL1p,  hSGOL1,  A0A024R2J4,  B5BUA4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM