Aliases for TOPORS Gene
External Ids for TOPORS Gene
Previous HGNC Symbols for TOPORS Gene
Previous GeneCards Identifiers for TOPORS Gene
This gene encodes a nuclear protein which is serine and arginine rich, and contains a RING-type zinc finger domain. It is highly expressed in the testis, and functions as an ubiquitin-protein E3 ligase. Mutations in this gene are associated with retinitis pigmentosa type 31. Alternatively spliced transcript variants, encoding different isoforms, have been observed for this locus. [provided by RefSeq, Sep 2010]
GeneCards Summary for TOPORS Gene
TOPORS (TOP1 Binding Arginine/Serine Rich Protein) is a Protein Coding gene. Diseases associated with TOPORS include Retinitis Pigmentosa 31 and Retinitis Pigmentosa. GO annotations related to this gene include ligase activity and ubiquitin protein ligase activity.
UniProtKB/Swiss-Prot for TOPORS Gene
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.