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FLASH GENE
Symbol DERL1 contributors: mct/npt - updated : 20-08-2013
HGNC name Der1-like domain family, member 1
HGNC id 28454
Location 8q24.13      Physical location : 124.025.567 - 124.054.648
Synonym name
  • derlin-1
  • degradation in endoplasmic reticulum protein 1
  • Synonym symbol(s) MGC3067, PRO2577, FLJ13784, DER1, DER-1, FLJ42092
    DNA
    TYPE functioning gene
    STRUCTURE 29.26 kb     8 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 3284 - 231 - 2008 18048502
    8 - 3344 28.8 251 - 2008 18048502
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouth   highly
    Endocrinepancreas    
    Hearing/Equilibriumear   highly
    Lymphoid/Immunespleen    
     thymus    
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    Connectivebone   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES other
    STRUCTURE
    motifs/domains
  • four transmembrane segments with both the amino and carboxy termini in the cytosol
  • HOMOLOGY
    interspecies ortholog to yeast Der1p
    Homologene
    FAMILY
  • derlin family
  • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,endosome
    basic FUNCTION
  • may be specifically required for the degradation proteins process associated with the ER
  • growth factor-responsive endothelial antigen that promotes endothelial cell survival and growth
  • DERL1 and FAF2 are engaged in dislocation and degradation of lipidated APOB at lipid droplets
  • involved in retrotranslocation of misfolded or misassembled proteins across the ER membrane for degradation by cytosolic proteasomes
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    presence of a Derlin-1-mediated ERAD pathway degrading wild-type and disease-causing vasopressin 2 R mutants with different misfolded domains
    a component
  • forming a membrane protein complex with VIMP that serves as a receptor for VCP
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • US11, a virally encoded ER protein
  • interacting with CFTR (recognizes misfolded, nonubiquitylated CFTR to initiate its dislocation and degradation early in the course of CFTR biogenesis, perhaps by detecting structural instability within the first transmembrane domain)
  • associates physically and functionally with BCAP31 in the CFTR DeltaF508 degradation pathway (Wang 2008)
  • SELK interacts with all three Derlins and has a higher affinity for DERL1
  • DNAJB9 associate with the integral membrane protein, DERL1
  • FAF2 and DERL1 bind with each other and with lipidated APOB and show colocalization around lipid droplets (LDs)
  • SOD1 (SOD1(WT)) comprises a masked DERL1 binding region, that, under zinc-deficient conditions, adopts a mutant-like conformation exposing the DBR and inducing the homeostatic ER stress response
  • CAV1 may be a cofactor in the interaction of DERL1 and PTGS2 and may facilitate DERL1- and VCP complex-mediated PTGS2 ubiquitination, retrotranslocation, and degradation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS