Property Summary

NCBI Gene PubMed Count 29
Grant Count 5
Funding $124,573
PubMed Score 194.05
PubTator Score 57.76

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q9NZV5 A6NJG8 A8MQ64 Q6PI70 Q969F6 Q9NUI6 SelN
Symbols RSS
CFTD
SELN
MDRS1
RSMD1
SEPN1

Gene

Gene RIF (16)

PMID Text
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.
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AA Sequence

MGRARPGQRGPPSPGPAAQPPAPPRRRARSLALLGALLAAAAAAAVRVCARHAEAQAAARQELALKTLGT      1 - 70
DGLFLFSSLDTDGDMYISPEEFKPIAEKLTGSCSVTQTGVQWCSHSSLQPQLPWLNUSSCLSLLRSTPAA     71 - 140
SCEEEELPPDPSEETLTIEARFQPLLPETMTKSKDGFLGVSRLALSGLRNWTAAASPSAVFATRHFQPFL    141 - 210
PPPGQELGEPWWIIPSELSMFTGYLSNNRFYPPPPKGKEVIIHRLLSMFHPRPFVKTRFAPQGAVACLTA    211 - 280
ISDFYYTVMFRIHAEFQLSEPPDFPFWFSPAQFTGHIILSKDATHVRDFRLFVPNHRSLNVDMEWLYGAS    281 - 350
ESSNMEVDIGYIPQMELEATGPSVPSVILDEDGSMIDSHLPSGEPLQFVFEEIKWQQELSWEEAARRLEV    351 - 420
AMYPFKKVSYLPFTEAFDRAKAENKLVHSILLWGALDDQSCUGSGRTLRETVLESSPILTLLNESFISTW    421 - 490
SLVKELEELQNNQENSSHQKLAGLHLEKYSFPVEMMICLPNGTVVHHINANYFLDITSVKPEEIESNLFS    491 - 560
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.
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