Aliases for DERL1 Gene
External Ids for DERL1 Gene
Previous GeneCards Identifiers for DERL1 Gene
The protein encoded by this gene is a member of the derlin family. Members of this family participate in the ER-associated degradation response and retrotranslocate misfolded or unfolded proteins from the ER lumen to the cytosol for proteasomal degradation. This protein recognizes substrate in the ER and works in a complex to retrotranslocate it across the ER membrane into the cytosol. This protein may select cystic fibrosis transmembrane conductance regulator protein (CFTR) for degradation as well as unfolded proteins in Alzheimer's disease. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]
GeneCards Summary for DERL1 Gene
DERL1 (Derlin 1) is a Protein Coding gene. Diseases associated with DERL1 include cavernous hemangioma and cystic fibrosis. Among its related pathways are Translational Control and Protein Stability. GO annotations related to this gene include receptor activity and MHC class I protein binding. An important paralog of this gene is DERL3.
UniProtKB/Swiss-Prot for DERL1 Gene
Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal proteins. May act by forming a channel that allows the retrotranslocation of misfolded proteins into the cytosol where they are ubiquitinated and degraded by the proteasome. May mediate the interaction between VCP and the degradation substrate. In case of infection by cytomegaloviruses, it plays a central role in the export from the ER and subsequent degradation of MHC class I heavy chains via its interaction with US11 viral protein, which recognizes and associates with MHC class I heavy chains. Also participates in the degradation process of misfolded cytomegalovirus US2 protein.