Property Summary

NCBI Gene PubMed Count 29
PubMed Score 194.05
PubTator Score 57.76

Knowledge Summary


No data available


Gene RIF (16)

22527882 The physiological function of SelN in muscle tissue and the pathogenesis leading to SEPN1-related myopathies. [Review]
21670436 Data show that the spectrum of severity of SEPN1-related myopathiesis wider than previously reported.
21241449 Data show that Argonaute 2 expression is critical for stem cells to escape senescence by downregulating miR10b and miR23b, and that selenoprotein N1 is also involved in ATSC survival and self-renewal through ROS-mediated p38 MAPK inactivation.
21048031 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20937510 this series of patients illustrates the clinical, histopathological and MRI findings of SEPN1-related myopathy. It also adds new mutations to the limited number of fully described pathogenic SEPN1 variants.
19557870 SelN plays a key role in redox homeostasis and human cell protection against oxidative stress.
19067361 Data highlights the importance of the SRE element during SelN expression and illustrates a novel molecular mechanism by which point mutations may lead to SEPN1-related myopathy.
18841251 The Alu-derived exon 3 of human SEPN1 acquired its muscle-specific splicing activity after the divergence of humans and chimpanzees, suggesting its potential role in human evolution.
18713863 SEPN1 and RYR1 are required for the same cellular differentiation events and are needed for normal calcium fluxes
16779558 We report on the possible molecular mechanism behind these mutations in SEPN1. Our study clarifies molecular mechanisms of this muscular disorder.
16498447 identification of this mutation affecting a conserved base in the selenocysteine insertion sequence functional motif thereby reveals the structural basis for a novel pathological mechanism leading to SEPN1-related myopathy
16365872 SEPN1 is the second genetic cause of CFTD and the first cause of autosomal recessive CFTD to be identified to our knowledge. CFTD is the fourth clinicopathological presentation that can be associated with mutations in SEPN1.
15961312 Two patients with 'Dropped head syndrome' due to mutations in SEPN1 genes.
15792869 SEPN1 mutation analysis revealed that the patient was a compound heterozygote: a previously described insertion (713-714 insA), and a novel nonsense mutation (R439stop).
15668457 A new SEPN1 point mutation, 943g->A causing G315S was found in a rigid spine muscular dystrophy patient with cor pulmonale.
12192640 Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease

AA Sequence

FSSTFEDPSTATYMQFLKEGLRRGLPLLQP                                            561 - 590

Text Mined References (30)

PMID Year Title
25452428 2015 SEPN1, an endoplasmic reticulum-localized selenoprotein linked to skeletal muscle pathology, counteracts hyperoxidation by means of redox-regulating SERCA2 pump activity.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
22527882 2012 Selenoprotein N in skeletal muscle: from diseases to function.
21670436 2011 SEPN1-related myopathies: clinical course in a large cohort of patients.
21241449 2011 Nuclear Argonaute 2 regulates adipose tissue-derived stem cell survival through direct control of miR10b and selenoprotein N1 expression.
21131290 2011 Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency.
21048031 2011 Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
20937510 2011 New molecular findings in congenital myopathies due to selenoprotein N gene mutations.
19769461 2010 Selenoproteins and protection against oxidative stress: selenoprotein N as a novel player at the crossroads of redox signaling and calcium homeostasis.
19557870 2009 Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment.
19067361 2009 A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy.
18841251 2008 Diverse splicing patterns of exonized Alu elements in human tissues.
18713863 2008 Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle.
17474147 2007 Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening.
16779558 2006 Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16498447 2006 A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy.
16365872 2006 SEPN1: associated with congenital fiber-type disproportion and insulin resistance.
15961312 2005 Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes.
15792869 2005 Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1).
15668457 2005 Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15122708 2004 Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.
12700173 2003 Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12192640 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.
11528383 2001 Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.
10608886 1999 Novel selenoproteins identified in silico and in vivo by using a conserved RNA structural motif.
9585610 1998 Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.
8833144 1996 Isolation, expression, and chromosomal localization of the human mitochondrial capsule selenoprotein gene (MCSP).