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FLASH GENE
Symbol SEL1L contributors: mct - updated : 17-01-2013
HGNC name sel-1 suppressor of lin-12-like (C. elegans)
HGNC id 10717
Location 14q31.1      Physical location : 81.939.239 - 82.000.205
Synonym symbol(s) IBD2, IBD, PRO1063, SEL1-LIKE, SEL1L1
DNA
TYPE functioning gene
STRUCTURE 60.97 kb     21 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter (CAAT box)
cytosine-phosphate-guanine/HTF
MAPPING cloned Y linked N status provisional
Map cen - D14S287 - SEL1L - D14S1022 - D14S128 - D14S48 - D14S67 - D14S68 - qter
Authors Biunno (00)
RNA
TRANSCRIPTS type messenger
text
  • three spliced variants (SEL1L-A, SEL1L-B, SEL1L-C)
  • B and C isoforms are secreted glycoproteins, induced upon ER stress (Cattaneo 2009)
  • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 1675 38 301 - 2011 21359144
  • p38
  • potentially engaged in endosomal trafficking and secretion via vesicles, which could contribute to relieve ER stress in tumorigenic cells
  • could therefore be relevant as diagnostic markers and/or therapeutic targets in cancer
  • 21 - 6593 - 794 - 2011 21359144
    - - - 28 - - 2011 21359144
  • potentially engaged in endosomal trafficking and secretion via vesicles, which could contribute to relieve ER stress in tumorigenic cells
  • could therefore be relevant as diagnostic markers and/or therapeutic targets in cancer
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   moderately
     vessel   moderately
    Digestiveliver   moderately
    Endocrinepancreas   moderately
     parathyroid   moderately
     thyroid   moderately
    Hearing/Equilibriumear   predominantly
    Lymphoid/Immunelymph node   highly
    Reproductivefemale systemuterus  moderately
     female systembreastmammary gland moderately
     female systemplacenta  moderately
    Respiratorylung    
    Urinarybladder    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  moderately
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Muscular   moderately
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text specifically in fetal tissues, placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a 21 aa signal peptide
  • a fibronectin type II collagen binding-like domain with four conserved cysteines
  • eleven Sel1-like repeats
  • a region between amino acid residues 659-794 containing the Hrd3 motif, tetratricopeptide (TPR)-like SEL1 repeat, a transmembrane region, and a proline-rich tail required for tumour growth inhibition
  • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to rattus Sel1lh (97.2 pc)
    homolog to murine Sel1l (93.7 pc)
    homolog to yeast Hrd3p
    Homologene
    FAMILY
  • sel-1 family
  • CATEGORY adaptor , signaling
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text
  • single-pass type I membrane protein
  • basic FUNCTION
  • acting as a negative regulator of the NOTCH pathway, key regulator of the cellular proliferation and specication process
  • playing an important role in the growth and aggressiveness of pancreatic carcinoma and having an impact on the expression of genes involved in regulation of cellular growth, possibly through the TGF-beta signaling pathway
  • . may be involved in the endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins
  • playing a crucial role for dislocation of Class I major histocompatibility complex heavy chains by the human cytomegalovirus US11 protein
  • nucleates a protein complex required for dislocation of misfolded glycoproteins
  • regulation of the stability and assembly of the SYVN1-SEL1L complex is critical to optimize the degradation kinetics of ERAD substrates
  • stabilization and assembly of the SYVN1-SEL1L complex thus play a central role in mammalian ERAD regulation
  • potentially required for endoplasmic reticulum-associated degradation of misfolded luminal proteins but not transmembrane proteins
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
  • notch signaling
  • a component
  • part of a complex containing SEL1L, SYVN1 and DERL2
  • part of the SYVN1 ligase complex involved in substrate recognition
  • SYVN1-SEL1L complex provides a scaffold for endoplasmic reticulum (ER)-associated degradation (ERAD)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with SYVN1, and with UBE2J1
  • interacting with the conserved mannose 6-phosphate receptor homology (MRH) domains of OS9
  • critical scaffolding function for HEY1, HEY2 that is required for forming an active retrotranslocation complex containing SYVN1, SEL1L, and DERL2
  • EDEM2 interacts with calnexin and SEL1L, suggesting a potential avenue by which misfolded glycoproteins may be shunted towards SEL1L and ERAD rather than being released into the secretory pathway
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in breast carcinoma with aggressiveness and in pancreatic carcinoma
    constitutional        
    MODY3(modifier of MODY3)
    Susceptibility to Alzheimer's disease
    Variant & Polymorphism SNP
  • a new polymorphism within the SEL1L intron 3 (IVS3-88 A>G) in Alzheimer's disease
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mouse embryonic fibroblast cells deficient in SEL1L exhibited activated unfolded protein response at the basal state, impaired ER-associated protein degradation, and reduced protein secretion