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SEPN1


Official Full Name
selenoprotein N
Organism
Homo sapiens
Gene ID
57190
Background
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
SELENON; RSS; CFTD; SELN; CMYO3; CMYP3; MDRS1; RSMD1; SEPN1

Cat.No. Product Name Price
SHH404572 shRNA set against Human SEPN1 (NM_020451.2) Inquiry
SHH404576 shRNA set against Mouse SEPN1 (NM_029100.2) Inquiry
SHR199968 shRNA set against Human SEPN1(NM_020451.2) Inquiry
SHR199986 shRNA set against Human SEPN1(NM_206926.1) Inquiry
SHR215124 shRNA set against Mouse Sepn1(NM_029100.2) Inquiry
SHW002769 shRNA set against Chicken SEPN1 (NM_001114972) Inquiry
SHW007123 shRNA set against Danio rerio SEPN1 (NM_001004294) Inquiry
Cat.No. Product Name Price
CDFG002732 Human SEPN1 cDNA Clone(NM_020451.2) Inquiry
CDFG013634 Human SEPN1 cDNA Clone(NM_206926.1) Inquiry
CDFL012098 Mouse Sepn1 cDNA Clone(NM_029100.2) Inquiry
MiUTR1H-09271 SEPN1 miRNA 3'UTR clone Inquiry
MiUTR1M-10553 SEPN1 miRNA 3'UTR clone Inquiry
CDCB164244 Chicken SEPN1 ORF Clone (NM_001114972) Inquiry
CDCB168598 Danio rerio SEPN1 ORF Clone (NM_001004294) Inquiry
CDCB188932 Rabbit SEPN1 ORF clone (XM_008265925.1) Inquiry
CDCH076106 human SEPN1 ORF clone (NM_206926.1) Inquiry
CDCH076108 human SEPN1 ORF clone (NM_020451.2) Inquiry
CDCH078458 Mouse Sepn1 ORF clone (NM_029100.2) Inquiry
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