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 ERAD E3 Ligase Adaptor Subunit) is a Protein Coding gene. Diseases associated with SEL1L include Type 1 Diabetes Mellitus 11 and Good Syndrome. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. An important paralog of this gene is SEL1L2.
UniProtKB/Swiss-Prot 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.