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- Table of Contents
1 Citations
Facts about Selenoprotein N.
Within the ER, ERO1A activity raises the concentration of H(2)O(2), which attacks the luminal thiols in ATP2A2 and thus results in cysteinyl sulfenic acid formation (-SOH) and SEPN1 reduces the SOH back to free thiol (- SH), thus restoring ATP2A2 action (PubMed:25452428). Acts as a modulator of ryanodine receptor (RyR) action: protects RyR from oxidation due to increased oxidative stress, or directly controls the RyR redox state, regulating the RyR-mediated calcium mobilization needed for normal muscle development and differentiation (PubMed:19557870, PubMed:18713863).
| Human | |
|---|---|
| Gene Name: | SELENON |
| Uniprot: | Q9NZV5 |
| Entrez: | 57190 |

| Belongs to: |
|---|
| No superfamily |

Selenoprotein N
Mass (kDA):
65.813 kDA

| Human | |
|---|---|
| Location: | 1p36.11 |
| Sequence: | 1; NC_000001.11 (25800193..25818221) |
Isoform 1 and isoform 2 are expressed in skeletal muscle, brain, lung and placenta. Isoform 2 is also expressed in heart, diaphragm and stomach.
[Isoform 2]: Endoplasmic reticulum membrane.



PMID: 11528383 by Moghadaszadeh B., et al. Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.
PMID: 10608886 by Lescure A., et al. Novel selenoproteins identified in silico and in vivo by using a conserved RNA structural motif.