SELENON

Also known as CFTD, MDRS1, RSMD1, RSS, SELN, SEPN1, selenoprotein N, 1, selenoprotein N

Selenoprotein N is a protein that in humans is encoded by the SEPN1 gene.

In the Vinony graph

Vinony's link graph records 8 inbound references to SELENON, and connects out to Q180686, Ensembl genome database project and protein.

Vinony files it under Genes mutated in mice, Genes on human chromosome 1 and Selenoproteins.

Vinony links it to 5 Wikipedia language editions.

Gene data

SELENON

Name: selenoprotein N
Type: protein-coding
Aliases: CFTD, CMYO3, CMYP3, MDRS1, 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].

via MyGene.info