DERL1
entrez
79139
canonical
uniprot
Q9BUN8
canonical
ensembl
ENSG00000136986
resolver
ensp
ENSP00000259512
resolver
ensp
ENSP00000384289
resolver
ensp
ENSP00000429199
resolver
ensp
ENSP00000430086
resolver
enst
ENST00000519018
resolver
enst
ENST00000523036
resolver
genesymbol
DERL1
resolver
genesymbol_syn
DER1
resolver
hgnc
HGNC:28454
resolver
uniprot
B3KW41
resolver
uniprot
E5RGY0
resolver
uniprot
E9PH19
resolver
uniprot_entry
DERL1_HUMAN
resolver
uniprot_entry
E5RGY0_HUMAN
resolver
uniprot_sec
B3KW41
resolver
uniprot_sec
E9PH19
resolver
amino_acid_sequence
MSDIGDWFRSIPAITRYWFAATVAVPLVGKLGLISPAYLFLWPEAFLYRFQIWRPITATFYFPVGPGTGFLYLVNLYFLYQYSTRLETGAFDGRPADYLFMLLFNWICIVITGLAMDMQLLMIPLIMSVLYVWAQLNRDMIVSFWFGTRFKACYLPWVILGFNYIIGGSVINELIGNLVGHLYFFLMFRYPMDLGGRNFLSTPQFLYRWLPSRRGGVSGFGVPPASMRRAADQNGGGGRHNWGQGFRLGDQ
uniprot
proteins
function
FUNCTION: Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal proteins (PubMed:15215856, PubMed:33658201). Forms homotetramers which encircle a large channel traversing the endoplasmic reticulum (ER) membrane (PubMed:33658201). This allows the retrotranslocation of misfolded proteins from the ER into the cytosol where they are ubiquitinated and degraded by the proteasome (PubMed:33658201). The channel has a lateral gate within the membrane which provides direct access to membrane proteins with no need to reenter the ER lumen first (PubMed:33658201). May mediate the interaction between VCP and the misfolded protein (PubMed:15215856). Also 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). By controlling the steady-state expression of the IGF1R receptor, indirectly regulates the insulin-like growth factor receptor signaling pathway (PubMed:26692333). {ECO:0000269|PubMed:15215856, ECO:0000269|PubMed:26565908, ECO:0000269|PubMed:26692333, ECO:0000269|PubMed:33658201}.; FUNCTION: (Microbial infection) 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}.
uniprot
proteins
mass_dalton
28801
uniprot
proteins
mutagenesis
MUTAGEN 70; /note="F->C: Impaired ERAD substrate degradation."; /evidence="ECO:0000269|PubMed:33658201"; MUTAGEN 73; /note="L->A: Impaired ERAD substrate degradation."; /evidence="ECO:0000269|PubMed:33658201"; MUTAGEN 164; /note="Y->A: Impaired ERAD substrate degradation."; /evidence="ECO:0000269|PubMed:33658201"; MUTAGEN 165; /note="I->A: Impaired ERAD substrate degradation."; /evidence="ECO:0000269|PubMed:33658201"; MUTAGEN 180; /note="G->V: Reduces interaction with and proteolysis of XBP1 isoform 1."; /evidence="ECO:0000269|PubMed:25239945"; MUTAGEN 243..245; /note="GQG->AQA: Significantly reduced binding to VCP."; /evidence="ECO:0000269|PubMed:27714797"; MUTAGEN 247; /note="R->A: Significantly reduced binding to VCP."; /evidence="ECO:0000269|PubMed:27714797"; MUTAGEN 248; /note="L->A: Significantly reduced binding to VCP."; /evidence="ECO:0000269|PubMed:27714797
uniprot
proteins
protein_family
Derlin family
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15215855
uniprot
proteins
pubmed
15215856
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16055502
uniprot
proteins
pubmed
16186509
uniprot
proteins
pubmed
16186510
uniprot
proteins
pubmed
16289116
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
16449189
uniprot
proteins
pubmed
17872946
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18675248
uniprot
proteins
pubmed
19121997
uniprot
proteins
pubmed
19275885
uniprot
proteins
pubmed
19818707
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22016385
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24160817
uniprot
proteins
pubmed
25239945
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26565908
uniprot
proteins
pubmed
26692333
uniprot
proteins
pubmed
27714797
uniprot
proteins
pubmed
29275994
uniprot
proteins
pubmed
33658201
uniprot
proteins
sequence_length
251
uniprot
proteins
subcellular_location
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}.
uniprot
proteins
transmembrane_region
TRANSMEM 16..31; /note="Helical; Name=1"; /evidence="ECO:0000269|PubMed:33658201"; TRANSMEM 70..89; /note="Helical; Name=2"; /evidence="ECO:0000269|PubMed:33658201"; TRANSMEM 95..115; /note="Helical; Name=3"; /evidence="ECO:0000269|PubMed:33658201"; TRANSMEM 123..137; /note="Helical; Name=4"; /evidence="ECO:0000269|PubMed:33658201"; TRANSMEM 155..166; /note="Helical; Name=5"; /evidence="ECO:0000269|PubMed:33658201"; TRANSMEM 171..189; /note="Helical; Name=6"; /evidence="ECO:0000269|PubMed:33658201
uniprot
proteins