Aliases for DERL3 Gene
External Ids for DERL3 Gene
Previous HGNC Symbols for DERL3 Gene
Previous GeneCards Identifiers for DERL3 Gene
The protein encoded by this gene belongs to the derlin family, and resides in the endoplasmic reticulum (ER). Proteins that are unfolded or misfolded in the ER must be refolded or degraded to maintain the homeostasis of the ER. This protein appears to be involved in the degradation of misfolded glycoproteins in the ER. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]
GeneCards Summary for DERL3 Gene
DERL3 (Derlin 3) is a Protein Coding gene. Diseases associated with DERL3 include Rhabdoid Tumor Predisposition Syndrome 1 and Tumor Predisposition Syndrome. Among its related pathways are Protein processing in endoplasmic reticulum and CDK-mediated phosphorylation and removal of Cdc6. An important paralog of this gene is DERL2.
UniProtKB/Swiss-Prot for DERL3 Gene
Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal glycoproteins, but not that of misfolded nonglycoproteins. May act by forming a channel that allows the retrotranslocation of misfolded glycoproteins into the cytosol where they are ubiquitinated and degraded by the proteasome. May mediate the interaction between VCP and the misfolded glycoproteins (PubMed:16449189, PubMed:22607976). May be involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for proteasomal degradation (PubMed:26565908).