Biology:SEPN1

Short description: Protein-coding gene in the species Homo sapiens

Generic protein structure example

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

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. 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

• "Isolation, expression, and chromosomal localization of the human mitochondrial capsule selenoprotein gene (MCSP)". Genomics 32 (2): 184–90. Mar 1996. doi:10.1006/geno.1996.0104. PMID 8833144. 
• "Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36". American Journal of Human Genetics 62 (6): 1439–45. Jun 1998. doi:10.1086/301882. PMID 9585610. 
• "Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome". Nature Genetics 29 (1): 17–8. Sep 2001. doi:10.1038/ng713. PMID 11528383. 
• "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". American Journal of Human Genetics 71 (4): 739–49. Oct 2002. doi:10.1086/342719. PMID 12192640. 
• "Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern". Human Molecular Genetics 12 (9): 1045–53. May 2003. doi:10.1093/hmg/ddg115. PMID 12700173. 
• "Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene". Annals of Neurology 55 (5): 676–86. May 2004. doi:10.1002/ana.20077. PMID 15122708. 
• "Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale". Neurology 64 (2): 395–6. Jan 2005. doi:10.1212/01.WNL.0000149755.85666.DB. PMID 15668457. 
• "Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1)". Neuromuscular Disorders 15 (4): 299–302. Apr 2005. doi:10.1016/j.nmd.2004.11.004. PMID 15792869. 
• "Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes". Neuromuscular Disorders 15 (8): 521–4. Aug 2005. doi:10.1016/j.nmd.2005.03.006. PMID 15961312. 
• "SEPN1: associated with congenital fiber-type disproportion and insulin resistance". Annals of Neurology 59 (3): 546–52. Mar 2006. doi:10.1002/ana.20761. PMID 16365872. 
• "A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy". EMBO Reports 7 (4): 450–4. Apr 2006. doi:10.1038/sj.embor.7400648. PMID 16498447. 
• "Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene". Neurogenetics 7 (3): 175–83. Jul 2006. doi:10.1007/s10048-006-0046-0. PMID 16779558. 

External links

• GeneReviews/NCBI/NIH/UW entry on Congenital Muscular Dystrophy Overview
• GeneReviews/NCBI/NIH/UW entry on Multiminicore Disease