DISEASES

Disease-gene associations mined from literature

Literature associating TOPORS and retinitis pigmentosa

TOPORS [ENSP00000353735]

Topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase; Functions as an E3 ubiquitin-protein ligase and as an E3 SUMO1-protein ligase. Probable tumor suppressor involved in cell growth, cell proliferation and apoptosis that regulates p53/TP53 stability through ubiquitin-dependent degradation. May regulate chromatin modification through sumoylation of several chromatin modification-associated proteins. May be involved in DNA damage- induced cell death through IKBKE sumoylation; Ring finger proteins

Synonyms:  TOPORS,  Q9NS56,  LUN,  Q9NS56p,  hQ9NS56 ...

Linkouts:  STRING  Pharos  UniProt  OMIM