| Gene Symbol | DERL1 |
|---|---|
| Entrez Gene | 79139 |
| Alt Symbol | DER-1, DER1 |
| Species | Human |
| Gene Type | protein-coding |
| Description | derlin 1 |
| Other Description | DERtrin-1|Der1-like domain family, member 1|degradation in endoplasmic reticulum protein 1|derlin-1 |
| Swissprots | B3KW41 Q9BUN8 E9PH19 |
| Accessions | CAH25951 CBJ06471 EAW92013 EAW92014 EAW92015 EAW92016 EAW92017 Q9BUN8 AA976062 AF116708 AAF71128 AF131854 AI755206 AK023846 AK124086 BAG54003 AK303826 BAG64773 AK313675 BAG36426 AY358818 AAQ89177 BC002457 AAH02457 BC037174 BC050691 DA800358 DA906855 HQ447233 ADQ31720 XM_006716657 XP_006716720 XM_011517299 XP_011515601 NM_001134671 NP_001128143 NM_024295 NP_077271 |
| Function | 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. {ECO:0000269|PubMed:15215855, ECO:0000269|PubMed:15215856}. |
| Subcellular Location | Endoplasmic reticulum membrane {ECO:0000269|PubMed:15215855, ECO:0000269|PubMed:15215856, ECO:0000269|PubMed:16186509, ECO:0000269|PubMed:16449189}; Multi- pass membrane protein {ECO:0000269|PubMed:15215855, ECO:0000269|PubMed:15215856, ECO:0000269|PubMed:16186509, ECO:0000269|PubMed:16449189}. |
| Tissue Specificity | Ubiquitous. {ECO:0000269|PubMed:15215855, ECO:0000269|PubMed:16449189}. |
| Top Pathways | Amyotrophic lateral sclerosis (ALS), Protein processing in endoplasmic reticulum |