DERL1, Official Symbol DERL1provided by HGNC Official Full Name derlin 1provided by HGNC Primary source HGNC:HGNC:28454 See related Ensembl:ENSG00000136986 MIM:608813; AllianceGenome:HGNC:28454 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DER1; DER-1; derlin-1 Summary 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] Expression Ubiquitous expression in thyroid (RPKM 22.2), fat (RPKM 21.9) and 25 other tissues See more Orthologs mouse all