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FLASH GENE
Symbol SEL1L last update : 04-03-2008
HGNC name sel-1 suppressor of lin-12-like (C. elegans)
HGNC id 10717
Location 14q24.3-q31.1
Synonym symbol(s) IBD2, IBD, PRO1063, SEL1-LIKE
DNA RNA EXP/sub-loc PROTEIN PATHOLOGY
DNA
TYPE functioning gene
STRUCTURE 62.00 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)
Physical map
LOC388001 14 LOC388001 DIO2 14q24.3 deiodinase, iodothyronine, type II C14orf145 14q31.1 chromosome 14 open reading frame 145 HMGN2P2 14 high-mobility group nucleosomal binding domain 2 pseudogene 2 C14orf61 14q31.1 chromosome 14 open reading frame 61 TSHR 14q31 thyroid stimulating hormone receptor RPL17P3 14 ribosomal protein L17 pseudogene 3 NMNATP 14q21.3 nicotinamide nucleotide adenylyltransferase pseudogene GTF2A1 14q31.1 general transcription factor IIA, 1, 19/37kDa LOC246720 14q31.1 dynein, cytoplasmic, light polypeptide pseudogene UNGP3 14 uracil-DNA glycosylase pseudogene 3 STN2 14q31.1 stonin 2 RPS24P3 14 ribosomal protein S24 pseudogene 3 LOC390498 14 similar to dynein, cytoplasmic, light peptide LOC388002 14 LOC388002 SEL1L 14q24.3-q31.1 sel-1 suppressor of lin-12-like (C. elegans) EEF1A1P2 14q31.1 eukaryotic translation elongation factor 1 alpha 1 pseudogene 2 RPL9P6 14 ribosomal protein L9 pseudogene 6 EIF3S6IPP 14 eukaryotic translation initiation factor 3, subunit 6 interacting protein pseudogene ENSAP2 14q31.1 endosulfine alpha pseudogene 2
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
    kDaAAspecific expressionauthor
    variant 1 21 - 7885
    - - - -
    -
    EXPRESSION / SUBCELLULAR LOCALIZATION
    EXPRESSION (based on citations) ubiquitous
    constitutive of
       expressed in
    organ(s)
    SystemOrgan 1organ 2organ 3organ 4level
    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
    SystemTissueS_TissueSs_Tissuelevel
    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
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth,lumen,membrane
    text
  • single-pass type I membrane protein
    • 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 dog SEL1L (97.7 pc)
    homolog to chimpanzee SEL1L (99.9 pc)
    homolog to rattus Sel1lh (97.2 pc)
    homolog to murine Sel1l (93.7 pc)
    homolog to chicken SEL1L (84.7 pc)
    intraspecies
     
    Homologene
    FAMILY
  • sel-1 family
    • CATEGORY adaptor , signaling
    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
    • implicated in a
    process
    cellular process
    physiological
    pathway
    metabolism
    signaling signal transduction
    text
  • notch signaling
    • a component
    structural
  • part of a complex containing SEL1L, SYVN1 and DERL2
  • part of the HRD1 ligase complex involved in substrate recognition
    • 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
    • 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
    Therapy target
    animal or cellular model