Multicore myopathy

SELENON
Identifiers
Aliases	SELENON, CFTD, MDRS1, RSMD1, RSS, SELN, SEPN1, selenoprotein N, 1, selenoprotein N
External IDs	MGI: 2151208 HomoloGene: 10723 GeneCards: SELENON
Gene location (Human) Chr. Chromosome 1 (human) Band 1p36.11 Start 25,800,176 bp End 25,818,224 bp
Gene location (Mouse) Chr. Chromosome 4 (mouse) Band 4|4 D3 Start 134,537,892 bp End 134,552,166 bp
Gene ontology Molecular function • calcium ion binding • protein binding • oxidoreductase activity Cellular component • endoplasmic reticulum membrane • endoplasmic reticulum • membrane Biological process • regulation of ryanodine-sensitive calcium-release channel activity • positive regulation of response to oxidative stress • calcium ion homeostasis • oxidation-reduction process • skeletal muscle fiber development Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	57190	74777
Ensembl	ENSG00000162430	ENSMUSG00000050989
UniProt	Q9NZV5	D3Z2R5
RefSeq (mRNA)	NM_206926 NM_020451	NM_029100
RefSeq (protein)	NP_065184 NP_996809	NP_083376
Location (UCSC)	Chr 1: 25.8 – 25.82 Mb	Chr 1: 134.54 – 134.55 Mb
PubMed search

57190

74777

ENSG00000162430

ENSMUSG00000050989

Q9NZV5

D3Z2R5

NM_206926
NM_020451

NM_029100

NP_065184
NP_996809

NP_083376

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

This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Mutations in this gene cause the classical phenotype of multiminicore disease and congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.

Model organisms have been used in the study of SEPN1 function. A conditional knockout mouse line, called Sepn1^{tm1a(KOMP)Wtsi} was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.

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Wikipedia