LOCUS       NM_001410337            1711 bp    mRNA    linear   ROD 24-SEP-2024
DEFINITION  Mus musculus sarcoglycan, epsilon (Sgce), transcript variant 11,
            mRNA.
ACCESSION   NM_001410337 XM_030255281
VERSION     NM_001410337.1
KEYWORDS    RefSeq.
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 1711)
  AUTHORS   Cesari,E., Farini,D., Medici,V., Ehrmann,I., Guerra,M., Testa,E.,
            Naro,C., Geloso,M.C., Pagliarini,V., La Barbera,L., D'Amelio,M.,
            Orsini,T., Vecchioli,S.F., Tamagnone,L., Fort,P., Viscomi,M.T.,
            Elliott,D.J. and Sette,C.
  TITLE     Differential expression of paralog RNA binding proteins establishes
            a dynamic splicing program required for normal cerebral cortex
            development
  JOURNAL   Nucleic Acids Res 52 (8), 4167-4184 (2024)
   PUBMED   38324473
REFERENCE   2  (bases 1 to 1711)
  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 1711)
  AUTHORS   Farini,D., Cesari,E., Weatheritt,R.J., La Sala,G., Naro,C.,
            Pagliarini,V., Bonvissuto,D., Medici,V., Guerra,M., Di Pietro,C.,
            Rizzo,F.R., Musella,A., Carola,V., Centonze,D., Blencowe,B.J.,
            Marazziti,D. and Sette,C.
  TITLE     A Dynamic Splicing Program Ensures Proper Synaptic Connections in
            the Developing Cerebellum
  JOURNAL   Cell Rep 31 (9), 107703 (2020)
   PUBMED   32492419
REFERENCE   4  (bases 1 to 1711)
  AUTHORS   Nakano,Y., Wiechert,S. and Banfi,B.
  TITLE     Overlapping Activities of Two Neuronal Splicing Factors Switch the
            GABA Effect from Excitatory to Inhibitory by Regulating REST
  JOURNAL   Cell Rep 27 (3), 860-871 (2019)
   PUBMED   30995482
REFERENCE   5  (bases 1 to 1711)
  AUTHORS   Maltese,M., Martella,G., Imbriani,P., Schuermans,J., Billion,K.,
            Sciamanna,G., Farook,F., Ponterio,G., Tassone,A., Santoro,M.,
            Bonsi,P., Pisani,A. and Goodchild,R.E.
  TITLE     Abnormal striatal plasticity in a DYT11/SGCE myoclonus dystonia
            mouse model is reversed by adenosine A2A receptor inhibition
  JOURNAL   Neurobiol Dis 108, 128-139 (2017)
   PUBMED   28823931
REFERENCE   6  (bases 1 to 1711)
  AUTHORS   Yokoi,F., Dang,M.T., Mitsui,S. and Li,Y.
  TITLE     Exclusive paternal expression and novel alternatively spliced
            variants of epsilon-sarcoglycan mRNA in mouse brain
  JOURNAL   FEBS Lett 579 (21), 4822-4828 (2005)
   PUBMED   16099459
  REMARK    GeneRIF: Sgce gene is imprinted, with exclusive expression from the
            paternal allele.
REFERENCE   7  (bases 1 to 1711)
  AUTHORS   Straub,V., Ettinger,A.J., Durbeej,M., Venzke,D.P., Cutshall,S.,
            Sanes,J.R. and Campbell,K.P.
  TITLE     epsilon-sarcoglycan replaces alpha-sarcoglycan in smooth muscle to
            form a unique dystrophin-glycoprotein complex
  JOURNAL   J Biol Chem 274 (39), 27989-27996 (1999)
   PUBMED   10488149
REFERENCE   8  (bases 1 to 1711)
  AUTHORS   Coral-Vazquez,R., Cohn,R.D., Moore,S.A., Hill,J.A., Weiss,R.M.,
            Davisson,R.L., Straub,V., Barresi,R., Bansal,D., Hrstka,R.F.,
            Williamson,R. and Campbell,K.P.
  TITLE     Disruption of the sarcoglycan-sarcospan complex in vascular smooth
            muscle: a novel mechanism for cardiomyopathy and muscular dystrophy
  JOURNAL   Cell 98 (4), 465-474 (1999)
   PUBMED   10481911
REFERENCE   9  (bases 1 to 1711)
  AUTHORS   McNally,E.M., Ly,C.T. and Kunkel,L.M.
  TITLE     Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan
            (adhalin), the limb girdle muscular dystrophy 2D gene
  JOURNAL   FEBS Lett 422 (1), 27-32 (1998)
   PUBMED   9475163
REFERENCE   10 (bases 1 to 1711)
  AUTHORS   Ettinger,A.J., Feng,G. and Sanes,J.R.
  TITLE     epsilon-Sarcoglycan, a broadly expressed homologue of the gene
            mutated in limb-girdle muscular dystrophy 2D
  JOURNAL   J Biol Chem 272 (51), 32534-32538 (1997)
   PUBMED   9405466
  REMARK    Erratum:[J Biol Chem 1998 Jul 31;273(31):19922]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC084315.4 and AC091395.4.
            
            On Aug 4, 2022 this sequence version replaced XM_030255281.2.
            
            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 :: SRR7345562.1323493.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            imprinted gene :: PMID: 16099459
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-137               AC084315.4         9829-9965           c
            138-232             AC091395.4         153909-154003       c
            233-355             AC091395.4         135985-136107       c
            356-513             AC091395.4         134532-134689       c
            514-586             AC091395.4         127919-127991       c
            587-785             AC091395.4         123685-123883       c
            786-948             AC091395.4         110633-110795       c
            949-1160            AC091395.4         108040-108251       c
            1161-1349           AC091395.4         106190-106378       c
            1350-1393           AC091395.4         94678-94721         c
            1394-1428           AC091395.4         93774-93808         c
            1429-1711           AC091395.4         90961-91243         c
FEATURES             Location/Qualifiers
     source          1..1711
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="6"
                     /map="6 1.81 cM"
     gene            1..1711
                     /gene="Sgce"
                     /gene_synonym="e-SG"
                     /note="sarcoglycan, epsilon"
                     /db_xref="GeneID:20392"
                     /db_xref="MGI:MGI:1329042"
     exon            1..137
                     /gene="Sgce"
                     /gene_synonym="e-SG"
                     /inference="alignment:Splign:2.1.0"
     exon            138..232
                     /gene="Sgce"
                     /gene_synonym="e-SG"
                     /inference="alignment:Splign:2.1.0"
     exon            233..355
                     /gene="Sgce"
                     /gene_synonym="e-SG"
                     /inference="alignment:Splign:2.1.0"
     exon            356..513
                     /gene="Sgce"
                     /gene_synonym="e-SG"
                     /inference="alignment:Splign:2.1.0"
     CDS             397..1479
                     /gene="Sgce"
                     /gene_synonym="e-SG"
                     /note="isoform 11 is encoded by transcript variant 11;
                     epsilon-sarcoglycan; epsilon-SG"
                     /codon_start=1
                     /product="epsilon-sarcoglycan isoform 11"
                     /protein_id="NP_001397266.1"
                     /db_xref="GeneID:20392"
                     /db_xref="MGI:MGI:1329042"
                     /translation="MGYPDRPGWLRYIQRTPYSDGVLYGSPTAENVGKPTIIEITAYN
                     RRTFETARHNLIINIMSAEEFPLPYQAEFFIKNMNVEEMLASEVLGDFLGAVKNVWQP
                     ERLNAINITSALDRGGRVPLPINDMKEGVYVMVGADVAFSSCLREVENPQNQLRCSQE
                     MEPVITCDKKFRTHFHIDWCKISLVDKTKQVSTYQEVVRGEGILPDGGEYKPPSDSLK
                     SRDYYTDFLVTLAVPSAVALVLFLILAYIMCCRREGVIQLVHHSSIQKSTKELRDMSK
                     NREIAWPLSTLPVFHPVTGEVIPPTHTDNYDSTNMPLMQAQQNLPHQTQIPQPQTTGD
                     FRLTTFQRFEVNGIPEERKLTEAMSL"
     exon            514..586
                     /gene="Sgce"
                     /gene_synonym="e-SG"
                     /inference="alignment:Splign:2.1.0"
     exon            587..785
                     /gene="Sgce"
                     /gene_synonym="e-SG"
                     /inference="alignment:Splign:2.1.0"
     exon            786..948
                     /gene="Sgce"
                     /gene_synonym="e-SG"
                     /inference="alignment:Splign:2.1.0"
     exon            949..1160
                     /gene="Sgce"
                     /gene_synonym="e-SG"
                     /inference="alignment:Splign:2.1.0"
     exon            1161..1349
                     /gene="Sgce"
                     /gene_synonym="e-SG"
                     /inference="alignment:Splign:2.1.0"
     exon            1350..1393
                     /gene="Sgce"
                     /gene_synonym="e-SG"
                     /inference="alignment:Splign:2.1.0"
     exon            1394..1428
                     /gene="Sgce"
                     /gene_synonym="e-SG"
                     /inference="alignment:Splign:2.1.0"
     exon            1429..1711
                     /gene="Sgce"
                     /gene_synonym="e-SG"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1690..1695
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Sgce"
                     /gene_synonym="e-SG"
                     /note="hexamer: AATAAA"
     polyA_site      1711
                     /gene="Sgce"
                     /gene_synonym="e-SG"
                     /note="major polyA site"
ORIGIN      
        1 gaggacggtt ggcttaggca ggccaagaat gctattattc tggtggtggg agctgggaga
       61 cccttgtgct tggacgggaa agggtcgggg gacactcaag atgagccccg cgaccactgg
      121 cacattctta ctgacaggaa aaaaagaaga ggcagaagca gaggcacaga aacacttggg
      181 ttcaaatgac gtcccttcag aggttctcac accgagcagc gcctttcttt agtgtacact
      241 cttttctcca aggtgcactc tgaccggaac gtgtacccat ctgcaggtgt cctctttgtt
      301 catgtgttgg agagagagta ttttaagggt gaatttccac cttatccaaa gcctggggag
      361 gttagtaatg atcccataac atttaacaca aatttaatgg gctacccaga tagacctgga
      421 tggcttcgat atatccaaag gaccccgtac agtgatggag tcctgtatgg gtctccaaca
      481 gctgaaaatg tggggaaacc aactattatt gagataactg cctacaatag acgtaccttt
      541 gagactgcaa ggcataactt gataattaat ataatgtcag cagaagaatt cccgttgcca
      601 tatcaagcag aattcttcat caaaaatatg aatgtggaag aaatgttggc cagcgaggtt
      661 cttggagact ttctcggggc tgtaaaaaat gtgtggcagc cagagcgcct caacgccata
      721 aacatcacgt cagccctgga taggggtggc agagtgccgc ttcctattaa tgacatgaag
      781 gagggtgttt atgtcatggt tggtgccgat gttgcatttt cttcttgttt acgagaagtt
      841 gaaaatccac agaatcagtt aagatgcagt caagaaatgg agcctgtgat aacatgcgac
      901 aaaaagttcc gaactcactt tcatatcgac tggtgcaaga tttcactggt tgacaaaaca
      961 aagcaagtgt ccacctatca ggaagtagtt cgtggcgagg gcattttgcc cgacggcggg
     1021 gagtacaagc ccccttcgga ttctttgaaa agccgagact attacacgga tttcctcgtt
     1081 accctggctg tgccctcggc ggtagcactg gtgcttttcc taatactcgc ttatatcatg
     1141 tgctgccgac gggaaggagt tatccagctt gtccatcaca gctcgattca gaaatctacc
     1201 aaggagcttc gagacatgtc caaaaacaga gagattgcat ggcccctgtc taccctgccc
     1261 gtgttccacc ctgtaactgg agaggttata cctcccacgc acacagacaa ctacgacagc
     1321 accaacatgc cgttgatgca ggcacagcag aacttgccac accagactca gatccctcaa
     1381 ccgcagacta caggagattt tcgtttgaca acttttcaaa gatttgaggt aaatggtatc
     1441 cctgaagaaa gaaagctgac agaagcaatg agtttataat cagcactgct gcagccgtgt
     1501 ctcacccctt tcccttccaa taatgcatga gctttcctga catcggttac gcatgcccac
     1561 tgtgttgaga accaaatacc gtgacacatc tctcacttac taatgcattt tttttgtact
     1621 taaagcattt ttgaaaattt ataagacatc aacgacttta tatttgttac aataaaaagt
     1681 aaactttaaa ataaatatta atggagccta a
//
