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FLASH GENE
Symbol SEPN1 contributors: mct/npt - updated : 18-02-2012
HGNC name selenoprotein N, 1
HGNC id 15999
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