Aliases for SYVN1 Gene
External Ids for SYVN1 Gene
Previous GeneCards Identifiers for SYVN1 Gene
This gene encodes a protein involved in endoplasmic reticulum (ER)-associated degradation. The encoded protein removes unfolded proteins, accumulated during ER stress, by retrograde transport to the cytosol from the ER. This protein also uses the ubiquitin-proteasome system for additional degradation of unfolded proteins. Sequence analysis identified two transcript variants that encode different isoforms. [provided by RefSeq, May 2011]
GeneCards Summary for SYVN1 Gene
SYVN1 (Synoviolin 1) is a Protein Coding gene. Diseases associated with SYVN1 include Wolfram Syndrome. Among its related pathways are Antigen processing- Ubiquitination and Proteasome degradation and Protein processing in endoplasmic reticulum. GO annotations related to this gene include ubiquitin protein ligase activity and acid-amino acid ligase activity. An important paralog of this gene is RNF145.
UniProtKB/Swiss-Prot for SYVN1 Gene
Acts as an E3 ubiquitin-protein ligase which accepts ubiquitin specifically from endoplasmic reticulum-associated UBC7 E2 ligase and transfers it to substrates, promoting their degradation. Component of the endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins. Also promotes the degradation of normal but naturally short-lived proteins such as SGK. Protects cells from ER stress-induced apoptosis. Protects neurons from apoptosis induced by polyglutamine-expanded huntingtin (HTT) or unfolded GPR37 by promoting their degradation. Sequesters p53/TP53 in the cytoplasm and promotes its degradation, thereby negatively regulating its biological function in transcription, cell cycle regulation and apoptosis.