Aliases for SEL1L Gene
External Ids for SEL1L Gene
Previous GeneCards Identifiers for SEL1L Gene
The protein encoded by this gene is part of a protein complex required for the retrotranslocation or dislocation of misfolded proteins from the endoplasmic reticulum lumen to the cytosol, where they are degraded by the proteasome in a ubiquitin-dependent manner. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
GeneCards Summary for SEL1L Gene
SEL1L (SEL1L Adaptor Subunit Of ERAD E3 Ubiquitin Ligase) is a Protein Coding gene. Diseases associated with SEL1L include Type 1 Diabetes Mellitus 11 and Granular Corneal Dystrophy. Among its related pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and Signaling by GPCR. An important paralog of this gene is SEL1L2.
UniProtKB/Swiss-Prot Summary for SEL1L Gene
Plays a role in the endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins (PubMed:16186509). Enhances SYVN1 stability. Plays a role in LPL maturation and secretion. Required for normal differentiation of the pancreas epithelium, and for normal exocrine function and survival of pancreatic cells. May play a role in Notch signaling.