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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
    Physical map
    P29 1p36.13-p35.1 GCIP-interacting protein p29 DJ465N24.2.1 1p36.13-p35.1 hypothetical protein dJ465N24.2.1 SMP1 1p36.11 hypothetical protein dJ465N24.2.1 RHCE 1p36.1 Rhesus blood group, CcEe antigens LOC388606 1 similar to Succinate dehydrogenase [ubiquinone] cytochrome B small subunit, mitochondrial precursor (CybS) (Succinate-ubiquinone reductase membrane anchor subunit) (QPS2) (CII-4) (Succinate dehydrogenase complex subunit D) (Succinat RHD 1p36.1 Rhesus blood group, D antigen LOC388607 1 similar to RhCE protein LOC388608 1 similar to mutant membrane protein RhCe FLJ10747 1p36.11 hypothetical protein FLJ10747 ARH MAN1C1 1p35 mannosidase, alpha, class 1C, member 1 SEPN1 1p36.13 selenoprotein N, 1 LOC56181 1p35.3 hypothetical protein RP1-317E23 MGC2603 1p35.3 hypothetical protein MGC2603 MPRA 1p36.11 hypothetical protein MGC2603 FLJ32206 1p35.3 hypothetical protein FLJ32206 STMN1 1p36.11 stathmin 1/oncoprotein 18 LOC388609 1 LOC388609 PAFAH2 1p34.2 platelet-activating factor acetylhydrolase 2, 40kDa EXTL1 1p36.1 exostoses (multiple)-like 1 SLC30A2 1p35.3 solute carrier family 30 (zinc transporter), member 2 RNF28 1p34-p33 ring finger protein 28 LOC149420 1p35.3 casein kinase FLJ14050 1p35.3 hypothetical protein FLJ14050 ZT86 1p35.3 zinc finger protein CNK1 1p35.3 zinc finger protein CATSPER4 1p35.3 cation channel, sperm associated 4 LOC391021 1 similar to secreted acid phosphatase 2 (SAP2) DKFZP434L0117 1p35.3 hypothetical protein DKFZp434L0117 MRPS6P1 1p35 mitochondrial ribosomal protein S6 pseudogene 1 SH3BGRL3 1p35-p34.3 SH3 domain binding glutamic acid-rich protein like 3 SOC 1p35.3 SH3 domain binding glutamic acid-rich protein like 3 CDW52 1p36 CDW52 antigen (CAMPATH-1 antigen) AIM1L 1p35.3 absent in melanoma 1-like MGC33414 1p35.3 hypothetical protein MGC33414 LIN28 1p35.3 lin-28 homolog (C. elegans) DHDDS 1p35.3 dehydrodolichyl diphosphate synthase HMGN2 1p36.1 high-mobility group nucleosomal binding domain 2 RPS6KA1 1p36-p35 ribosomal protein S6 kinase, 90kDa, polypeptide 1
    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