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Rabbit Anti-SEPN1/Selenoprotein N antibody
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]
Function:
Isoform 2: Plays an important role in cell protection against oxidative stress and in the regulation of redox-related calcium homeostasis. Regulates the calcium level of the ER by protecting the calcium pump ATP2A2 against the oxidoreductase ERO1A-mediated oxidative damage. Within the ER, ERO1A activity increases the concentration of H(2)O(2), which attacks the luminal thiols in ATP2A2 and thus leads to cysteinyl sulfenic acid formation (-SOH) and SEPN1 reduces the SOH back to free thiol (-SH), thus restoring ATP2A2 activity (PubMed:25452428). Acts as a modulator of ryanodine receptor (RyR) activity: protects RyR from oxidation due to increased oxidative stress, or directly controls the RyR redox state, regulating the RyR-mediated calcium mobilization required for normal muscle development and differentiation (PubMed:19557870, PubMed:18713863).
Essential for muscle regeneration and satellite cell maintenance in skeletal muscle (PubMed:21131290).
Subcellular Location:
Endoplasmic reticulum membrane. Probably membrane-associated.
Tissue Specificity:
Isoform 1 and isoform 2 are expressed in skeletal muscle, brain, lung and placenta. Isoform 2 is also expressed in heart, diaphragm and stomach.
Post-translational modifications:
N-glycosylated (isoform 2).
DISEASE:
Defects in SEPN1 are the cause of myopathy SEPN1-related (M-SEPN1) [MIM:602771]. A group of neuromuscular disorders consisting of four nosological entities: classic multiminicore disease (MmD), rigid spine muscular dystrophy 1 syndrome (RSMD1), desmin-related myopathy with Mallory body-like inclusions (MB-DRM) and congenital fiber-type disproportion. All are clinically characterized by poor axial muscle strength, scoliosis and neck weakness, and a variable degree of spinal rigidity. Early ventilatory insufficiency can lead to death by respiratory failure.
Similarity:
Contains 1 EF-hand domain.
SWISS:
Q9NZV5
Gene ID:
57190
Database links:
Entrez Gene: 57190 Human
Entrez Gene: 74777 Mouse
Entrez Gene: 362624 Rat
Omim: 606210 Human
SwissProt: Q9NZV5 Human
Unigene: 323396 Human
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