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FLASH GENE
Symbol SEPN1 contributors: mct/npt - updated : 18-02-2012
HGNC name selenoprotein N, 1
HGNC id 15999
Corresponding disease
CFTD2 congenital fibre type disproportion 2
RSMD1 rigid spine muscular dystrophy 1
Location 1p36.13      Physical location : 26.126.666 - 26.144.713
Synonym name
  • muscular dystrophy with rigid spine 1
  • rigid spine muscular dystrophy 1
  • Synonym symbol(s) SelN, MDRS1, RSS, RSMD1, FLJ24021
    DNA
    TYPE functioning gene
    STRUCTURE 18.05 kb     13 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    text structure exon 3 corresponding to an Alu cassette and containing a second in-frame selenocystein codon
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 4255 62.1 556 - Maghadaszadeh, Okamoto (2006)
  • exon 3 spliced
  • endoplasmic reticulum membrane
  • N-glycosylated
  • 13 splicing 4357 - 590 - Maghadaszadeh, Okamoto (2006)
  • full-length transcript
  • skeletal muscle, brain, lung and placenta
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen   highly
    Endocrinepancreas   highly
    Nervousbrain    
    Reproductivefemale systemovary  highly
     male systemprostate  highly
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Muscularstriatumskeletal  
    Nervouscentral   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminus (first 61 amino acids) contains an endoplasmic reticulum addressing retention targeting signal
  • two potential ER targeting signals
  • a di-arginine motif
  • an EF-hand domain
  • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to murine Sepn1
    Homologene
    FAMILY
  • selenocysteine-containing protein family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • playing a role in early development and in cell proliferation or regeneration
  • the ryanodine receptor (RyR) intracellular calcium release channel, are both required for normal muscle development and differentiation and for some calcium mobilization events in the embryo
  • plays a key role in redox homeostasis and human cell protection against oxidative stress
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • associated with RyRs and functions as a modifier of the RyR channel (modulator of RyR activity)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RSMD1 , CFTD2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS