Selenoprotein N1 (SEPN1)

RSS; MDRS1; RSMD1; SELN; SEP-N1; Rigid Spine Muscular Dystrophy 1

SPN	S118
HGNC	15999
MGI	2151208
PubMed	16365872
UniProt	Q9NZV5
Wiki	SEPN1

Selenoprotein N is 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.Hemagglutinin-tagged SEPN1 was expressed as a 60-kD protein in the presence of a wildtype SECIS element but not a mutant SECIS element.

Reference

"Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome."
Nat. Genet. 29:17-18(2001) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and biological annotation of human chromosome 1."
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]

"Novel selenoproteins identified in silico and in vivo by using a conserved RNA structural motif."
J. Biol. Chem. 274:38147-38154(1999) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern."
Hum. Mol. Genet. 12:1045-1053(2003) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"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. 71:739-749(2002) [PubMed] [Europe PMC] [Abstract]

"Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene."
Ann. Neurol. 55:676-686(2004) [PubMed] [Europe PMC] [Abstract]

"A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy."
Hum. Mutat. 30:411-416(2009) [PubMed] [Europe PMC] [Abstract]