SEPN1

Selenoprotein N, 1
Identifiers
Symbols	SEPN1 ; RSS; FLJ24021; MDRS1; RSMD1; SELN
External IDs	Template:OMIM5 HomoloGene: 10723
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Biological process Template:GNF GO
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Selenoprotein N, 1, also known as SEPN1, is a human 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.

Further reading

• Aho H, Schwemmer M, Tessman D; et al. (1997). "Isolation, expression, and chromosomal localization of the human mitochondrial capsule selenoprotein gene (MCSP)". Genomics. 32 (2): 184–90. PMID 8833144.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Moghadaszadeh B, Desguerre I, Topaloglu H; et al. (1998). "Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36". Am. J. Hum. Genet. 62 (6): 1439–45. PMID 9585610.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lescure A, Gautheret D, Carbon P, Krol A (2000). "Novel selenoproteins identified in silico and in vivo by using a conserved RNA structural motif". J. Biol. Chem. 274 (53): 38147–54. PMID 10608886.CS1 maint: Multiple names: authors list (link)
• Moghadaszadeh B, Petit N, Jaillard C; et al. (2001). "Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome". Nat. Genet. 29 (1): 17–8. doi:10.1038/ng713. PMID 11528383.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ferreiro A, Quijano-Roy S, Pichereau C; et al. (2002). "Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies". Am. J. Hum. Genet. 71 (4): 739–49. PMID 12192640.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Petit N, Lescure A, Rederstorff M; et al. (2003). "Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern". Hum. Mol. Genet. 12 (9): 1045–53. PMID 12700173.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ferreiro A, Ceuterick-de Groote C, Marks JJ; et al. (2004). "Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene". Ann. Neurol. 55 (5): 676–86. doi:10.1002/ana.20077. PMID 15122708.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Venance SL, Koopman WJ, Miskie BA; et al. (2005). "Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale". Neurology. 64 (2): 395–6. doi:10.1212/01.WNL.0000149755.85666.DB. PMID 15668457.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Tajsharghi H, Darin N, Tulinius M, Oldfors A (2005). "Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1)". Neuromuscul. Disord. 15 (4): 299–302. doi:10.1016/j.nmd.2004.11.004. PMID 15792869.CS1 maint: Multiple names: authors list (link)
• D'Amico A, Haliloglu G, Richard P; et al. (2005). "Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes". Neuromuscul. Disord. 15 (8): 521–4. doi:10.1016/j.nmd.2005.03.006. PMID 15961312.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Clarke NF, Kidson W, Quijano-Roy S; et al. (2006). "SEPN1: associated with congenital fiber-type disproportion and insulin resistance". Ann. Neurol. 59 (3): 546–52. doi:10.1002/ana.20761. PMID 16365872.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Allamand V, Richard P, Lescure A; et al. (2006). "A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy". EMBO Rep. 7 (4): 450–4. doi:10.1038/sj.embor.7400648. PMID 16498447.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gregory SG, Barlow KF, McLay KE; et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. doi:10.1038/nature04727. PMID 16710414.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Okamoto Y, Takashima H, Higuchi I; et al. (2007). "Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene". Neurogenetics. 7 (3): 175–83. doi:10.1007/s10048-006-0046-0. PMID 16779558.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)