LOCUS       NM_029100               3461 bp    mRNA    linear   ROD 06-NOV-2024
DEFINITION  Mus musculus selenoprotein N (Selenon), mRNA.
ACCESSION   NM_029100
VERSION     NM_029100.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 3461)
  AUTHORS   Germani,S., Van Ho,A.T., Cherubini,A., Varone,E., Chernorudskiy,A.,
            Renna,G.M., Fumagalli,S., Gobbi,M., Lucchetti,J., Bolis,M.,
            Guarrera,L., Craparotta,I., Rastelli,G., Piccoli,G., de Napoli,C.,
            Nogara,L., Poggio,E., Brini,M., Cattaneo,A., Bachi,A., Simmen,T.,
            Cali,T., Quijano-Roy,S., Boncompagni,S., Blaauw,B., Ferreiro,A. and
            Zito,E.
  TITLE     SEPN1-related myopathy depends on the oxidoreductase ERO1A and is
            druggable with the chemical chaperone TUDCA
  JOURNAL   Cell Rep Med 5 (3), 101439 (2024)
   PUBMED   38402623
REFERENCE   2  (bases 1 to 3461)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   3  (bases 1 to 3461)
  AUTHORS   Filipe,A., Chernorudskiy,A., Arbogast,S., Varone,E.,
            Villar-Quiles,R.N., Pozzer,D., Moulin,M., Fumagalli,S., Cabet,E.,
            Dudhal,S., De Simoni,M.G., Denis,R., Vadrot,N., Dill,C.,
            Giovarelli,M., Szweda,L., De Palma,C., Pinton,P., Giorgi,C.,
            Viscomi,C., Clementi,E., Missiroli,S., Boncompagni,S., Zito,E. and
            Ferreiro,A.
  TITLE     Defective endoplasmic reticulum-mitochondria contacts and
            bioenergetics in SEPN1-related myopathy
  JOURNAL   Cell Death Differ 28 (1), 123-138 (2021)
   PUBMED   32661288
  REMARK    GeneRIF: Defective endoplasmic reticulum-mitochondria contacts and
            bioenergetics in SEPN1-related myopathy.
REFERENCE   4  (bases 1 to 3461)
  AUTHORS   Ingham,N.J., Pearson,S.A., Vancollie,V.E., Rook,V., Lewis,M.A.,
            Chen,J., Buniello,A., Martelletti,E., Preite,L., Lam,C.C.,
            Weiss,F.D., Powis,Z., Suwannarat,P., Lelliott,C.J., Dawson,S.J.,
            White,J.K. and Steel,K.P.
  TITLE     Mouse screen reveals multiple new genes underlying mouse and human
            hearing loss
  JOURNAL   PLoS Biol 17 (4), e3000194 (2019)
   PUBMED   30973865
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3461)
  AUTHORS   Pozzer,D., Varone,E., Chernorudskiy,A., Schiarea,S., Missiroli,S.,
            Giorgi,C., Pinton,P., Canato,M., Germinario,E., Nogara,L.,
            Blaauw,B. and Zito,E.
  TITLE     A maladaptive ER stress response triggers dysfunction in highly
            active muscles of mice with SELENON loss
  JOURNAL   Redox Biol 20, 354-366 (2019)
   PUBMED   30391828
  REMARK    GeneRIF: These findings suggest that SELENON is part of an ER
            stress-dependent antioxidant response and that the CHOP/ERO1 branch
            of the ER stress response is a novel pathogenic mechanism
            underlying SELENON-related myopathies.
REFERENCE   6  (bases 1 to 3461)
  AUTHORS   Castets,P., Bertrand,A.T., Beuvin,M., Ferry,A., Le Grand,F.,
            Castets,M., Chazot,G., Rederstorff,M., Krol,A., Lescure,A.,
            Romero,N.B., Guicheney,P. and Allamand,V.
  TITLE     Satellite cell loss and impaired muscle regeneration in
            selenoprotein N deficiency
  JOURNAL   Hum Mol Genet 20 (4), 694-704 (2011)
   PUBMED   21131290
  REMARK    GeneRIF: we describe for the first time a major physiological
            function of SelN in skeletal muscles, as a key regulator of SC
            function, which likely plays a central role in the
            pathophysiological mechanism leading to SEPN1-RM.
REFERENCE   7  (bases 1 to 3461)
  AUTHORS   Rederstorff,M., Castets,P., Arbogast,S., Laine,J.,
            Vassilopoulos,S., Beuvin,M., Dubourg,O., Vignaud,A., Ferry,A.,
            Krol,A., Allamand,V., Guicheney,P., Ferreiro,A. and Lescure,A.
  TITLE     Increased muscle stress-sensitivity induced by selenoprotein N
            inactivation in mouse: a mammalian model for SEPN1-related myopathy
  JOURNAL   PLoS One 6 (8), e23094 (2011)
   PUBMED   21858002
  REMARK    GeneRIF: Data show that Sepn1(-/-) mice developed an obvious
            phenotype, characterized by limited motility and body rigidity
            during the swimming session.
REFERENCE   8  (bases 1 to 3461)
  AUTHORS   Castets,P., Maugenre,S., Gartioux,C., Rederstorff,M., Krol,A.,
            Lescure,A., Tajbakhsh,S., Allamand,V. and Guicheney,P.
  TITLE     Selenoprotein N is dynamically expressed during mouse development
            and detected early in muscle precursors
  JOURNAL   BMC Dev Biol 9, 46 (2009)
   PUBMED   19698141
  REMARK    GeneRIF: In whole embryos, Sepn1 transcripts were detected as early
            as E5.5, with expression levels peaking at E12.5, and then strongly
            decreasing until birth.
            Publication Status: Online-Only
REFERENCE   9  (bases 1 to 3461)
  AUTHORS   Howard,M.T., Aggarwal,G., Anderson,C.B., Khatri,S., Flanigan,K.M.
            and Atkins,J.F.
  TITLE     Recoding elements located adjacent to a subset of eukaryal
            selenocysteine-specifying UGA codons
  JOURNAL   EMBO J 24 (8), 1596-1607 (2005)
   PUBMED   15791204
REFERENCE   10 (bases 1 to 3461)
  AUTHORS   Moghadaszadeh,B., Petit,N., Jaillard,C., Brockington,M., Quijano
            Roy,S., Merlini,L., Romero,N., Estournet,B., Desguerre,I.,
            Chaigne,D., Muntoni,F., Topaloglu,H. and Guicheney,P.
  TITLE     Mutations in SEPN1 cause congenital muscular dystrophy with spinal
            rigidity and restrictive respiratory syndrome
  JOURNAL   Nat Genet 29 (1), 17-18 (2001)
   PUBMED   11528383
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BY742289.1, CX562316.1,
            CF737950.1, AK003819.1, BU057838.1 and BU756654.1.
            
            On Aug 2, 2006 this sequence version replaced NM_029100.1.
            
            Summary: This gene encodes a glycoprotein that is localized in the
            endoplasmic reticulum. It plays an important role in cell
            protection against oxidative stress, and in the regulation of
            redox-related calcium homeostasis. Mutations in the orthologous
            gene in human are associated with early onset muscle disorders,
            referred to as SEPN1-related myopathy. Knockout mice deleted for
            this gene exhibit abnormal lung development. This protein is a
            selenoprotein, containing the rare amino acid selenocysteine (Sec).
            Sec is encoded by the UGA codon, which normally signals translation
            termination. The 3' UTRs of selenoprotein mRNAs contain a conserved
            stem-loop structure, designated the Sec insertion sequence (SECIS)
            element, that is necessary for the recognition of UGA as a Sec
            codon, rather than as a stop signal. A second stop-codon
            redefinition element (SRE) adjacent to the UGA codon has been
            identified in this gene (PMID:15791204). SRE is a phylogenetically
            conserved stem-loop structure that stimulates readthrough at the
            UGA codon, and augments the Sec insertion efficiency by SECIS.
            [provided by RefSeq, Dec 2016].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMN01164139
                              [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            protein contains selenocysteine :: inferred from conservation
            RefSeq Select criteria          :: based on single protein-coding
                                               transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-564               BY742289.1         1-564
            565-1121            CX562316.1         242-798
            1122-1614           CF737950.1         164-656
            1615-1702           AK003819.1         179-266
            1703-1986           BU057838.1         390-673
            1987-3439           AK003819.1         551-2003
            3440-3461           BU756654.1         1-22                c
FEATURES             Location/Qualifiers
     source          1..3461
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="4"
                     /map="4 66.85 cM"
     gene            1..3461
                     /gene="Selenon"
                     /gene_synonym="1110019I12Rik; SelN; Sepn1"
                     /note="selenoprotein N"
                     /db_xref="GeneID:74777"
                     /db_xref="MGI:MGI:2151208"
     exon            1..230
                     /gene="Selenon"
                     /gene_synonym="1110019I12Rik; SelN; Sepn1"
                     /inference="alignment:Splign:2.1.0"
     CDS             48..1721
                     /gene="Selenon"
                     /gene_synonym="1110019I12Rik; SelN; Sepn1"
                     /note="UGA stop codon recoded as selenocysteine;
                     selenoprotein N, 1"
                     /codon_start=1
                     /transl_except=(pos:1329..1331,aa:Sec)
                     /product="selenoprotein N precursor"
                     /protein_id="NP_083376.2"
                     /db_xref="CCDS:CCDS38917.1"
                     /db_xref="GeneID:74777"
                     /db_xref="MGI:MGI:2151208"
                     /translation="MGQARPAARRPHSPDPGAQPAPPRRRARALALLGALLAAAAAVA
                     AARACALLADAQAAARQESALKVLGTDGLFLFSSLDTDQDMYISPEEFKPIAEKLTGS
                     VPVANYEEEELPHDPSEETLTIEARFQPLLMETMTKSKDGFLGVSRLALSGLRNWTTA
                     ASPSAAFAARHFRPFLPPPGQELGQPWWIIPGELSVFTGYLSNNRFYPPPPKGKEVII
                     HRLLSMFHPRPFVKTRFAPQGTVACLTAISDSYYTVMFRIHAEFQLSEPPDFPFWFSP
                     GQFTGHIILSKDATHIRDFRLFVPNHRSLNVDMEWLYGASETSNMEVDIGYVPQMELE
                     AVGPSVPSVILDEDGNMIDSRLPSGEPLQFVFEEIKWHQELSWEEAARRLEVAMYPFK
                     KVNYLPFTEAFDRARAEKKLVHSILLWGALDDQSCUGSGRTLRETVLESPPILTLLNE
                     SFISTWSLVKELEDLQTQQENPLHRQLAGLHLEKYSFPVEMMICLPNGTVVHHINANY
                     FLDITSMKPEDMENNNVFSFSSSFEDPSTATYMQFLREGLRRGLPLLQP"
     exon            231..348
                     /gene="Selenon"
                     /gene_synonym="1110019I12Rik; SelN; Sepn1"
                     /inference="alignment:Splign:2.1.0"
     exon            349..482
                     /gene="Selenon"
                     /gene_synonym="1110019I12Rik; SelN; Sepn1"
                     /inference="alignment:Splign:2.1.0"
     exon            483..692
                     /gene="Selenon"
                     /gene_synonym="1110019I12Rik; SelN; Sepn1"
                     /inference="alignment:Splign:2.1.0"
     exon            693..817
                     /gene="Selenon"
                     /gene_synonym="1110019I12Rik; SelN; Sepn1"
                     /inference="alignment:Splign:2.1.0"
     exon            818..955
                     /gene="Selenon"
                     /gene_synonym="1110019I12Rik; SelN; Sepn1"
                     /inference="alignment:Splign:2.1.0"
     exon            956..1037
                     /gene="Selenon"
                     /gene_synonym="1110019I12Rik; SelN; Sepn1"
                     /inference="alignment:Splign:2.1.0"
     exon            1038..1226
                     /gene="Selenon"
                     /gene_synonym="1110019I12Rik; SelN; Sepn1"
                     /inference="alignment:Splign:2.1.0"
     exon            1227..1332
                     /gene="Selenon"
                     /gene_synonym="1110019I12Rik; SelN; Sepn1"
                     /inference="alignment:Splign:2.1.0"
     exon            1333..1445
                     /gene="Selenon"
                     /gene_synonym="1110019I12Rik; SelN; Sepn1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1338..1376
                     /regulatory_class="recoding_stimulatory_region"
                     /gene="Selenon"
                     /gene_synonym="1110019I12Rik; SelN; Sepn1"
                     /note="stop_codon_readthrough_signal; stop-codon
                     redefinition element (SRE)"
                     /function="stimulates readthrough at the UGA codon"
     exon            1446..1547
                     /gene="Selenon"
                     /gene_synonym="1110019I12Rik; SelN; Sepn1"
                     /inference="alignment:Splign:2.1.0"
     exon            1548..3445
                     /gene="Selenon"
                     /gene_synonym="1110019I12Rik; SelN; Sepn1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2628..2695
                     /regulatory_class="recoding_stimulatory_region"
                     /gene="Selenon"
                     /gene_synonym="1110019I12Rik; SelN; Sepn1"
                     /note="SECIS_element"
                     /function="essential for recoding UGA to specify
                     selenocysteine"
     regulatory      3422..3427
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Selenon"
                     /gene_synonym="1110019I12Rik; SelN; Sepn1"
                     /note="hexamer: AATAAA"
     polyA_site      3445
                     /gene="Selenon"
                     /gene_synonym="1110019I12Rik; SelN; Sepn1"
                     /note="major polyA site"
ORIGIN      
        1 gtgcgatccc cttccctgca gccgccggga tccccggagc cgccgccatg ggccaggcca
       61 ggcccgcagc gcgccgcccg cacagcccgg accccggcgc tcagcccgcg cctccacgcc
      121 gccgcgcccg cgccctggcg ctgctcggag ccctgctggc ggccgccgcc gctgtcgccg
      181 ctgcccgggc ctgcgcgctc ctcgccgacg cccaggcggc cgcgcggcag gaatcggcat
      241 taaaggtcct ggggacagat ggcctctttc tcttttcctc gctggacact gaccaggata
      301 tgtacatcag tccggaggaa ttcaaaccca ttgcggagaa actgacaggg tcagttcctg
      361 tggccaacta cgaggaggag gaactgcccc atgaccccag cgaggagact cttaccatag
      421 aagcccgatt ccagcctctg ctcatggaga ccatgaccaa aagcaaagat ggcttcctag
      481 gggtctcccg cctcgctctg tccggcctcc gcaactggac cacagcagcc tcgccgagtg
      541 cagcgtttgc tgcccgccac ttccggccct tcctgccccc tccaggtcag gagctgggcc
      601 agccctggtg gattatcccc ggggagctga gcgtcttcac gggctatttg tccaacaacc
      661 gcttctaccc accaccgccc aagggcaagg aggtcatcat ccatcgcctg ttaagcatgt
      721 tccatccacg ccccttcgtg aagacccgct ttgcccctca gggcaccgtg gcctgtctga
      781 ctgccatcag cgattcctac tacaccgtga tgttccggat ccacgcggag tttcagctca
      841 gcgagcctcc tgacttcccc ttctggttct cgcccggcca gttcaccggc catatcatct
      901 tatccaaaga tgctacacac atccgtgact tcaggctgtt tgtgcccaat cacaggtccc
      961 tgaatgtgga catggagtgg ctgtatgggg ccagtgagac cagcaacatg gaggtggaca
     1021 ttggctacgt cccccagatg gagctggagg ctgtgggccc ctcggtgccc tctgtgatcc
     1081 tagatgagga cggcaacatg attgacagcc gcctgccctc aggagaaccc ctccagtttg
     1141 tgtttgagga gatcaagtgg catcaggagc tgagctggga agaggctgcc cggcgcctgg
     1201 aggtggccat gtatcccttc aagaaggtca actacctgcc gttcacggag gcctttgaca
     1261 gagccagagc tgagaagaaa cttgttcatt ccatcttgct gtggggggcc ctggacgacc
     1321 agtcctgctg aggttccggg cggactctcc gggagactgt cctggaaagc ccgcccatcc
     1381 tcactctcct caatgagagc ttcatcagta cctggtccct ggtaaaggag ctagaagacc
     1441 tgcagaccca gcaggagaac ccactccaca ggcagctggc aggcctgcac ttggagaagt
     1501 acagctttcc tgtagagatg atgatctgtc tgcccaacgg cactgtggtc caccacatca
     1561 atgccaacta cttccttgac atcacctcca tgaagcctga agacatggag aataataacg
     1621 tcttcagctt ctcatccagc tttgaggacc cgtccacagc tacctacatg cagttcctga
     1681 gggaaggact ccggcggggc ctgcccctcc tccagcccta gtcctagagg acctggacct
     1741 ggtaaaaagc cagcagacag aatccacgcg ccttggagcc acggtgcccg gagtctgttt
     1801 caaactggaa gtggtcccta cctcatcccc aggctgccta gagaggtcca gggtcatctg
     1861 aggctgtcac tttcataaat cctgagggat ggtggccaga tgagggggcc tgtctgcccg
     1921 gtcatgtgac tgagcttaat ccggctacca ctagcagccc atctggctcc aagagcttct
     1981 tcgagtcccc ccaaaagggg tctggggaga cctccctgga ccacacagtg tagttcagga
     2041 cctcggtgtg aatagggagt ggactggaaa ggtcccttct ttctaggctc ccctttcaag
     2101 ccaaaggaat taaaagagct gggctcgggg ccaagctgcc agcgctatgc ctgcttggag
     2161 ccttctatgc tggccatccc taggtagcct tctgtgcaca gtgctcccag ctagggtcat
     2221 tgtcagctgg agacagctgt ctggagcctc tgcacaaagc ccttctacag aagtggaggc
     2281 catattgtca cactgctacc cttcagcctg ttgacctgat gacccaagtc cagtcctgtt
     2341 cagagagatg gagaagttca ctgtgaagtg tgtcccagcc aaagagcgca gcctttctta
     2401 ttgccagcac tgtctagccc cccagggtac tgccagtcaa ctcaccaccg gatggccacc
     2461 agttcccatc ggctactttt ggggacttgg tgaacagctt gaacggctga ccatggccag
     2521 tcttttttta tgcatacaga aaagtgtttt tataagaact ttctcacagt ctatattttt
     2581 taaaactctg aatgctgagg agaaagaagt gggcagtggc tccccccagc aacagccgca
     2641 tgatggctgg gtctgaaatc gcaaatggat ccagcctgat gtcctcgcag ttgcacatgt
     2701 ggggagaaac taagcccacc ttccttctct ccagcttttt acaagcagtc aagactcagt
     2761 attccccagc cctgtcctgt gctccacact cccaagaagc gccttgaact caatcgcatc
     2821 tgagccttct tgacatcagc caggtcactg tgagccatct ctttacctgg tctcaccagg
     2881 ggctcaagct tcaaccatgc agaggaggaa ggcacataga cattccctga ttcctactcc
     2941 cctgccagcc cttggggcca ccacatagag cccccctcac gctctctggc tcccaggagc
     3001 cttgtctctg gggtgccctg tgaagatcac atacattttc tcatagcaaa ccatgaattg
     3061 gaaagttgcc cccatttttc agaggaagac attggagtct taggaaagta aagtgacttc
     3121 cggggtcact cagaggacca gagttgtgat ccaaacccac atgactctaa aggctatgtc
     3181 tcggttttgg gggtgccctg gctcatttcc ccctgtggtg ggaagggaat gttttcaaat
     3241 catgtcttct tatcagacta aacagagcag gtgtctatag ctctgccaga ttctctgagc
     3301 agtcctatgg gaagtactga ttgctggggc tttctgggtc ttcatcagac acctctgcac
     3361 atccccagct gccatctgat cacccctctg cctttgttcc cccatcccca gtatgtcctg
     3421 taataaaatt ggagagccta cagtaaaaaa aaaaaaaaaa a
//
