LOCUS       NM_020451               4314 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens selenoprotein N (SELENON), transcript variant 2, mRNA.
ACCESSION   NM_020451
VERSION     NM_020451.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4314)
  AUTHORS   Castets,P., Lescure,A., Guicheney,P. and Allamand,V.
  TITLE     Selenoprotein N in skeletal muscle: from diseases to function
  JOURNAL   J Mol Med (Berl) 90 (10), 1095-1107 (2012)
   PUBMED   22527882
  REMARK    GeneRIF: The physiological function of SelN in muscle tissue and
            the pathogenesis leading to SEPN1-related myopathies. [Review]
            Review article
REFERENCE   2  (bases 1 to 4314)
  AUTHORS   Maiti,B., Arbogast,S., Allamand,V., Moyle,M.W., Anderson,C.B.,
            Richard,P., Guicheney,P., Ferreiro,A., Flanigan,K.M. and
            Howard,M.T.
  TITLE     A mutation in the SEPN1 selenocysteine redefinition element (SRE)
            reduces selenocysteine incorporation and leads to SEPN1-related
            myopathy
  JOURNAL   Hum Mutat 30 (3), 411-416 (2009)
   PUBMED   19067361
  REMARK    GeneRIF: 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.
REFERENCE   3  (bases 1 to 4314)
  AUTHORS   Allamand,V., Richard,P., Lescure,A., Ledeuil,C., Desjardin,D.,
            Petit,N., Gartioux,C., Ferreiro,A., Krol,A., Pellegrini,N.,
            Urtizberea,J.A. and Guicheney,P.
  TITLE     A single homozygous point mutation in a 3'untranslated region motif
            of selenoprotein N mRNA causes SEPN1-related myopathy
  JOURNAL   EMBO Rep 7 (4), 450-454 (2006)
   PUBMED   16498447
  REMARK    GeneRIF: 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
REFERENCE   4  (bases 1 to 4314)
  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   5  (bases 1 to 4314)
  AUTHORS   Petit,N., Lescure,A., Rederstorff,M., Krol,A., Moghadaszadeh,B.,
            Wewer,U.M. and Guicheney,P.
  TITLE     Selenoprotein N: an endoplasmic reticulum glycoprotein with an
            early developmental expression pattern
  JOURNAL   Hum Mol Genet 12 (9), 1045-1053 (2003)
   PUBMED   12700173
REFERENCE   6  (bases 1 to 4314)
  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
REFERENCE   7  (bases 1 to 4314)
  AUTHORS   Lescure,A., Gautheret,D., Carbon,P. and Krol,A.
  TITLE     Novel selenoproteins identified in silico and in vivo by using a
            conserved RNA structural motif
  JOURNAL   J Biol Chem 274 (53), 38147-38154 (1999)
   PUBMED   10608886
REFERENCE   8  (bases 1 to 4314)
  AUTHORS   Sparks,S.E., Quijano-Roy,S., Harper,A., Rutkowski,A., Gordon,E.,
            Hoffman,E.P. and Pegoraro,E.
  TITLE     Congenital Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301468
REFERENCE   9  (bases 1 to 4314)
  AUTHORS   Beggs,A.H. and Agrawal,P.B.
  TITLE     Multiminicore Disease - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301467
REFERENCE   10 (bases 1 to 4314)
  AUTHORS   DeChene,E.T., Kang,P.B. and Beggs,A.H.
  TITLE     Congenital Fiber-Type Disproportion - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301436
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AJ306399.1, AA613025.1,
            BQ217758.1 and BC021028.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_020451.2.
            
            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 this gene are
            associated with early onset muscle disorders, referred to as
            SEPN1-related myopathy. SEPN1-related myopathy consists of 4
            autosomal recessive disorders, originally thought to be separate
            entities: rigid spine muscular dystrophy (RSMD1), the classical
            form of multiminicore disease, desmin related myopathy with
            Mallory-body like inclusions, and congenital fiber-type
            disproportion (CFTD). 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. Alternatively
            spliced transcript variants have been found for this gene.
            [provided by RefSeq, Dec 2016].
            
            Transcript Variant: This variant (2) contains an additional
            in-frame, Alu-derived coding exon in the 5' region compared to
            variant 1. The encoded isoform (2) is longer than isoform 1,
            containing two potential selenocysteine (Sec) residues. The first
            Sec found in the novel exon is not conserved, while the second Sec
            is highly conserved. Expression of isoform 2 was not detected in
            vivo or in transfection studies, leaving open the possibility that
            the UGA codon in the novel exon may be recognized as a stop codon,
            and not as a Sec codon (PMID:12700173).
            
            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##
            Transcript exon combination :: AJ306399.1, DRR138518.258546.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match              :: ENST00000361547.7/
                                               ENSP00000355141.2
            protein contains selenocysteine :: PMID: 10608886
            RefSeq Select criteria          :: based on conservation, longest
                                               protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-462               AJ306399.1         18-479
            463-575             AA613025.1         100-212
            576-1077            BQ217758.1         48-549
            1078-2116           BC021028.2         298-1336
            2117-4314           AJ306399.1         2134-4331
FEATURES             Location/Qualifiers
     source          1..4314
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.11"
     gene            1..4314
                     /gene="SELENON"
                     /gene_synonym="CFTD; CMYO3; CMYP3; MDRS1; RSMD1; RSS;
                     SELN; SEPN1"
                     /note="selenoprotein N"
                     /db_xref="GeneID:57190"
                     /db_xref="HGNC:HGNC:15999"
                     /db_xref="MIM:606210"
     exon            1..221
                     /gene="SELENON"
                     /gene_synonym="CFTD; CMYO3; CMYP3; MDRS1; RSMD1; RSS;
                     SELN; SEPN1"
                     /inference="alignment:Splign:2.1.0"
     CDS             39..1811
                     /gene="SELENON"
                     /gene_synonym="CFTD; CMYO3; CMYP3; MDRS1; RSMD1; RSS;
                     SELN; SEPN1"
                     /note="UGA stop codons recoded as selenocysteine; isoform
                     2 is encoded by transcript variant 2; selenoprotein N, 1"
                     /codon_start=1
                     /transl_except=(pos:417..419,aa:Sec)
                     /transl_except=(pos:1422..1424,aa:Sec)
                     /product="selenoprotein N isoform 2"
                     /protein_id="NP_065184.2"
                     /db_xref="CCDS:CCDS41282.1"
                     /db_xref="GeneID:57190"
                     /db_xref="HGNC:HGNC:15999"
                     /db_xref="MIM:606210"
                     /translation="MGRARPGQRGPPSPGPAAQPPAPPRRRARSLALLGALLAAAAAA
                     AVRVCARHAEAQAAARQELALKTLGTDGLFLFSSLDTDGDMYISPEEFKPIAEKLTGS
                     CSVTQTGVQWCSHSSLQPQLPWLNUSSCLSLLRSTPAASCEEEELPPDPSEETLTIEA
                     RFQPLLPETMTKSKDGFLGVSRLALSGLRNWTAAASPSAVFATRHFQPFLPPPGQELG
                     EPWWIIPSELSMFTGYLSNNRFYPPPPKGKEVIIHRLLSMFHPRPFVKTRFAPQGAVA
                     CLTAISDFYYTVMFRIHAEFQLSEPPDFPFWFSPAQFTGHIILSKDATHVRDFRLFVP
                     NHRSLNVDMEWLYGASESSNMEVDIGYIPQMELEATGPSVPSVILDEDGSMIDSHLPS
                     GEPLQFVFEEIKWQQELSWEEAARRLEVAMYPFKKVSYLPFTEAFDRAKAENKLVHSI
                     LLWGALDDQSCUGSGRTLRETVLESSPILTLLNESFISTWSLVKELEELQNNQENSSH
                     QKLAGLHLEKYSFPVEMMICLPNGTVVHHINANYFLDITSVKPEEIESNLFSFSSTFE
                     DPSTATYMQFLKEGLRRGLPLLQP"
     exon            222..339
                     /gene="SELENON"
                     /gene_synonym="CFTD; CMYO3; CMYP3; MDRS1; RSMD1; RSS;
                     SELN; SEPN1"
                     /inference="alignment:Splign:2.1.0"
     exon            340..441
                     /gene="SELENON"
                     /gene_synonym="CFTD; CMYO3; CMYP3; MDRS1; RSMD1; RSS;
                     SELN; SEPN1"
                     /inference="alignment:Splign:2.1.0"
     exon            442..575
                     /gene="SELENON"
                     /gene_synonym="CFTD; CMYO3; CMYP3; MDRS1; RSMD1; RSS;
                     SELN; SEPN1"
                     /inference="alignment:Splign:2.1.0"
     exon            576..785
                     /gene="SELENON"
                     /gene_synonym="CFTD; CMYO3; CMYP3; MDRS1; RSMD1; RSS;
                     SELN; SEPN1"
                     /inference="alignment:Splign:2.1.0"
     exon            786..910
                     /gene="SELENON"
                     /gene_synonym="CFTD; CMYO3; CMYP3; MDRS1; RSMD1; RSS;
                     SELN; SEPN1"
                     /inference="alignment:Splign:2.1.0"
     exon            911..1048
                     /gene="SELENON"
                     /gene_synonym="CFTD; CMYO3; CMYP3; MDRS1; RSMD1; RSS;
                     SELN; SEPN1"
                     /inference="alignment:Splign:2.1.0"
     exon            1049..1130
                     /gene="SELENON"
                     /gene_synonym="CFTD; CMYO3; CMYP3; MDRS1; RSMD1; RSS;
                     SELN; SEPN1"
                     /inference="alignment:Splign:2.1.0"
     exon            1131..1319
                     /gene="SELENON"
                     /gene_synonym="CFTD; CMYO3; CMYP3; MDRS1; RSMD1; RSS;
                     SELN; SEPN1"
                     /inference="alignment:Splign:2.1.0"
     exon            1320..1425
                     /gene="SELENON"
                     /gene_synonym="CFTD; CMYO3; CMYP3; MDRS1; RSMD1; RSS;
                     SELN; SEPN1"
                     /inference="alignment:Splign:2.1.0"
     exon            1426..1538
                     /gene="SELENON"
                     /gene_synonym="CFTD; CMYO3; CMYP3; MDRS1; RSMD1; RSS;
                     SELN; SEPN1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1431..1469
                     /regulatory_class="recoding_stimulatory_region"
                     /gene="SELENON"
                     /gene_synonym="CFTD; CMYO3; CMYP3; MDRS1; RSMD1; RSS;
                     SELN; SEPN1"
                     /note="stop_codon_readthrough_signal; stop-codon
                     redefinition element (SRE)"
                     /function="stimulates readthrough at the UGA codon"
     exon            1539..1640
                     /gene="SELENON"
                     /gene_synonym="CFTD; CMYO3; CMYP3; MDRS1; RSMD1; RSS;
                     SELN; SEPN1"
                     /inference="alignment:Splign:2.1.0"
     exon            1641..4314
                     /gene="SELENON"
                     /gene_synonym="CFTD; CMYO3; CMYP3; MDRS1; RSMD1; RSS;
                     SELN; SEPN1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2905..2972
                     /regulatory_class="recoding_stimulatory_region"
                     /gene="SELENON"
                     /gene_synonym="CFTD; CMYO3; CMYP3; MDRS1; RSMD1; RSS;
                     SELN; SEPN1"
                     /note="SECIS_element"
                     /function="essential for recoding UGA to specify
                     selenocysteine"
     regulatory      4294..4299
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SELENON"
                     /gene_synonym="CFTD; CMYO3; CMYP3; MDRS1; RSMD1; RSS;
                     SELN; SEPN1"
                     /note="hexamer: AATAAA"
     polyA_site      4314
                     /gene="SELENON"
                     /gene_synonym="CFTD; CMYO3; CMYP3; MDRS1; RSMD1; RSS;
                     SELN; SEPN1"
                     /note="major polyA site"
ORIGIN      
        1 gcttcccggg ccgccggcag ccgccgccag ccgcagccat gggccgggcc cggccgggcc
       61 aacgcgggcc gcccagcccc ggccccgccg cgcagcctcc cgcgccaccg cgccgccgcg
      121 cccgttccct ggcgctgctc ggagccctgc tggccgccgc cgctgccgcc gccgtccggg
      181 tctgcgcccg ccacgccgag gcccaggcgg ccgcgcggca ggaactggcg ctgaagaccc
      241 tggggacaga tggccttttt ctcttttcct ccttggacac tgacggggat atgtacatca
      301 gccctgagga gttcaaaccc attgctgaga agctaacagg gtcttgttct gtcacccaga
      361 ctggagtgca gtggtgcagt cacagctcac tgcagcctca acttccctgg ctcaattgat
      421 cctcctgcct cagcctcctg aggtcaactc ccgcggccag ctgcgaggag gaggagttgc
      481 cccctgaccc tagcgaggag acgctcacca tagaagcccg attccagcct ctgctcccgg
      541 agaccatgac caagagcaaa gatggcttcc taggggtctc ccgcctcgcc ctgtccggcc
      601 tccgaaactg gacagccgcc gcctcaccaa gtgcagtgtt tgccacccgc cacttccagc
      661 ccttccttcc cccgccaggc caggagctgg gtgagccctg gtggatcatc cccagtgagc
      721 tgagcatgtt cactggctac ctgtccaaca accgcttcta tccaccgccg cccaagggca
      781 aggaggtcat catccaccgg ctcctgagca tgttccaccc tcggcccttt gtgaagaccc
      841 gctttgcccc tcagggagct gtggcctgcc tgactgccat cagcgacttc tactacactg
      901 tgatgttccg gatccatgcc gagttccagc tcagtgagcc gcccgacttc cccttttggt
      961 tctcccctgc tcagttcacc ggccacatca tcctctccaa agacgccacc cacgtccgcg
     1021 acttccggct cttcgtgccc aaccacaggt ctctgaatgt ggacatggag tggctttacg
     1081 gggccagtga aagcagcaac atggaggtgg acatcggcta cataccccag atggagctgg
     1141 aggccacggg cccctctgtg ccctccgtga tcctggatga ggatggcagc atgatcgaca
     1201 gccacctgcc ttcaggggag cccctgcagt ttgtgtttga ggagatcaag tggcagcagg
     1261 agctgagctg ggaggaggct gcccggcgcc tggaggtggc catgtacccc ttcaagaagg
     1321 tctcctactt gccgttcact gaggccttcg accgagccaa ggctgagaac aagctggtgc
     1381 actcaatcct gctgtggggg gccctggatg accagtcctg ctgaggttca gggcggactc
     1441 tccgggagac tgtcctggaa agttcgccca tcctcaccct gctcaacgag agcttcatca
     1501 gcacctggtc cctggtgaag gagctggagg aactgcagaa caaccaggag aactcgtccc
     1561 accagaagct ggctggcctg cacctggaga agtacagctt ccccgtggag atgatgatct
     1621 gcctgcccaa tggcaccgtg gtccatcaca tcaatgccaa ctacttcttg gacatcacct
     1681 ccgtgaagcc cgaggaaatc gagagcaatc tcttcagctt ctcatccacc tttgaagacc
     1741 cgtccacggc cacctacatg cagttcctga aggagggact ccggcgtggc ctgcccctcc
     1801 tccagcccta gagtgcctgg acgggatctg atgcacaggc ccccacgcct cagagccaga
     1861 gtggtcctca gcccatttca gactgcagat gccgcccact cccaccccac tcctaggctg
     1921 ccttggaggg tacaagatcc actgagggtg gccaccacag ccttggctcc atggtggcgg
     1981 gtagacaagg gatgcctggg ctgactgggc agaggaacct ctagctctga ctgtcactcg
     2041 gctctcccta cccatttggc tctggaagct gcttggcccc cccagatcag ggcctgggtg
     2101 aactccctgg acctttccta gccagccgca cagtctaggc ccttgtgggg tgaagaatgg
     2161 agggaggagc aggctaggaa gacggggcca ccaccctctc cttgctttca gcccttccca
     2221 caggaaacat caagaagccc cagccaggag gggccaggct gccaaggcgg ctcccctgtt
     2281 tatctagagc cttcgttcct ggccataccc cggactgccc tcctgtgcct gatgtcccca
     2341 gctggggtca gtctcaacag gagccagtct tctggagcct ctgggcagaa ccctccatca
     2401 gagtggaaat cagacgggac cccctgcagc ttccctgacc acgccactga ccagctatct
     2461 ggggaagttt actgtgaagg ggtttctgcc tttagcaatg gggttcacta agggggttcc
     2521 cgaggcccag ggccaaggca ctcccaccgc ctaccttagc acagggtctc tgcaggactg
     2581 cgggagccag cgctcctgcc gcccctcttg cccctcagac cttgcatcca cagaagcaca
     2641 acccagccaa acaccacagc cttctccaga gccggcactg tcccggcaac caggggtgcc
     2701 ccaggctagc tcttctacct ctggggcacc acggactccc cttggccact cttgggactt
     2761 tggtccacgt cctgagccac tgaccacggc cagtctctct ttttatatgt gcagaaaagt
     2821 gtttttacac aaactttctc atggtttgta ggtatttttt tataacccca gtgctgagga
     2881 gaaaggaggg gcagtggctt ccccggcagc agccccatga tggctgaatc cgaaatcctc
     2941 gatgggtcca gcttgatgtc tttgcagctg cacctatggg aagaagtagt cctctcttcc
     3001 ttctcctctt cagcttttta aaaacagtcc tcagaggatc catgatcccc agcactgtcc
     3061 catcctccac aaaggcccac aggcatgcct gtactctctt tcattaaggt cttgaagtca
     3121 ggctgccccc tccccagccc ccagttctct ccccaccccc tcaccccacc cggggctcac
     3181 tcagcctggc agaggaagaa ggaaggcaga catctccgca gccactcctg ggccttttat
     3241 gtgccgagtt accccacttg ccttgggcgt gtccactgag ccttccccag ccagtcttgt
     3301 tctcaatttt gttttgtttt gttttgagac ggagtcttgc tctgtcaccc aggctggagt
     3361 gctatggctc gatcttggct cactgcaacc tccacctccc aggttcaagc aattctcttg
     3421 cctcagcctc ccgagtagct gggattacag gtgcatgcca ccatggctgg ctaatttttg
     3481 tatttttagt agagatgggg tttcaccata ttggtcaggc tgatctggaa cttctgacct
     3541 caggtgatcc acctgcctca gcctcccaaa gtgctgggat tacaggcgtg agcaatcgtg
     3601 cccagccttg ttcttaattt tgtatcatcc agtcatcgct aatattacac gcaccttctc
     3661 acttaatcct cacgacaagc ctgtgaggca gatgctcatt gttcccatct tgatgaaact
     3721 tgagtctcag ggaagtgaag tgacttgccc agggtcactc aggtagagtt gagattcaaa
     3781 cccacatgtg gctccaaagt ctgcatctgg atttgggggt gttttttggc atggcaccct
     3841 cacctctctc cctgcctgtt ttccccaaag tggaaaggaa ggcctttcaa accagagtgt
     3901 ctcactcccc tctgacctcc agaccagatg gggcatgagc cagccagctc agccaggctc
     3961 cctgtgtcct gggaggaagt gtccccatcc cccatgcccc ttatggggag ggagggcgtc
     4021 tgatgctctc tctctgcctc cccccccatc ctgtcaggca caggtgacgg gggcagccca
     4081 tgcgagccct tctcctgctg ctctgggagg gccagttcca cattgagcca gcctggtccc
     4141 atggaaaatg atggcctggg ctttctgagg ccttatctga tgcctctgca gttcatgtcc
     4201 cccaccaggc ctcgaggctc agggtgggag agggccccgg gctgccctgt cactcctcta
     4261 acacttccct cccctgtccc caacatgccc tgtaataaaa ttagagaaga ctaa
//
