SELENON

Selenoprotein N is a protein that in humans is encoded by the SEPN1 gene.^[5][6]

SELENON
Identifiers
Aliases	SELENON, CFTD, MDRS1, RSMD1, RSS, SELN, SEPN1, selenoprotein N, 1, selenoprotein N
External IDs	OMIM: 606210; MGI: 2151208; HomoloGene: 10723; GeneCards: SELENON; OMA:SELENON - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p36.11 Start 25,800,193 bp[1] End 25,818,221 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 D3 Start 134,265,203 bp[2] End 134,279,477 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in stromal cell of endometrium ventricular zone ganglionic eminence apex of heart smooth muscle tissue right lobe of thyroid gland gastric mucosa left lobe of thyroid gland right ovary upper lobe of left lung Top expressed in granulocyte external carotid artery internal carotid artery interventricular septum molar atrium Gonadal ridge dermis mandibular prominence maxillary prominence More reference expression data BioGPS n/a
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 skeletal muscle fiber development respiratory system process mitochondrion organization skeletal muscle satellite cell differentiation skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration positive regulation of skeletal muscle cell proliferation response to muscle activity involved in regulation of muscle adaptation multicellular organismal response to stress cellular response to oxidative stress skeletal muscle tissue regeneration lung alveolus development cellular response to caffeine 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 4: 134.27 – 134.28 Mb PubMed search [3] [4]
Wikidata
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Function

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. Pathogenic Mutations in SEPN1 gene (SELENON) can cause the classical phenotype of multiminicore disease and congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome known as SEPN1-related congenital muscular dystrophy or rigid spine syndrome. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.^[6]