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Gene : SELENON Homo sapiens

Name  ? selenoprotein N Cytological Location  1p36.11
Brief Description  selenoprotein N
description  This gene encodes a glycoprotein that is localized in the endoplasmic reticulum. It plays an important role in cell protection against oxidative stress, and in the regulation of redox-related calcium homeostasis. Mutations in this gene are associated with early onset muscle disorders, referred to as SEPN1-related myopathy. SEPN1-related myopathy consists of 4 autosomal recessive disorders, originally thought to be separate entities: rigid spine muscular dystrophy (RSMD1), the classical form of multiminicore disease, desmin related myopathy with Mallory-body like inclusions, and congenital fiber-type disproportion (CFTD). This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. A second stop-codon redefinition element (SRE) adjacent to the UGA codon has been identified in this gene (PMID:15791204). SRE is a phylogenetically conserved stem-loop structure that stimulates readthrough at the UGA codon, and augments the Sec insertion efficiency by SECIS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2016]
  • synonyms:
  • selenoprotein N, 1,
  • SEPN1,
  • RSMD1,
  • CFTD,
  • MDRS1,
  • RSS,
  • SELN,
  • AF166125,
  • SEPN1,
  • OTTHUMG00000007375,
  • RSMD1,
  • uc021ojk.2,
  • RSS,
  • HGNC:15999,
  • rigid spine muscular dystrophy 1,
  • NM_020451,
  • SELN,
  • MDRS1,
  • SELENON
  • identifiers:
  • 57190,
  • ENSG00000162430,
  • SELENON

Genome feature

Region: gene ? Length: 18047  
Location: 1:25800176-25818222 Cyto location: 1p36.11


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2 Diseases

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828 SN Ps

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17 Data Sets

3 Homologues

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90 Rna Seq Results