Tissue expression
Cell line expression
Protein structure
SELENON
Selenoprotein NMDRS1, RSMD1, RSS, SELN, SEPN1
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]
Top validated antibodies |
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Proteintech Group | 55333-1-AP | 7 references | Polyclonal |
WB
EL
IHC
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antibodies-online | ABIN954715 | 3 references | Polyclonal |
WB
IHC |
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NSJ Bioreagents | RQ8226 | Polyclonal |
WB
EL
FC
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NovoPro Bioscience Inc. | 115112 | Polyclonal |
WB
EL
IHC
|
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Cusabio Biotech Co., Ltd | CSB-PA183005 | Polyclonal |
WB
EL
IHC
|
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