LOCUS       NM_001130188            1716 bp    mRNA    linear   ROD 24-SEP-2024
DEFINITION  Mus musculus sarcoglycan, epsilon (Sgce), transcript variant 1,
            mRNA.
ACCESSION   NM_001130188
VERSION     NM_001130188.2
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 1716)
  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 1716)
  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 1716)
  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 1716)
  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 1716)
  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 1716)
  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 1716)
  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 1716)
  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 1716)
  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 1716)
  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 NM_001130188.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            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 :: AF103877.1, SRR14777530.858193.1
                                           [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
            138-245             AC091395.4         146617-146724       c
            246-368             AC091395.4         135985-136107       c
            369-526             AC091395.4         134532-134689       c
            527-599             AC091395.4         127919-127991       c
            600-798             AC091395.4         123685-123883       c
            799-961             AC091395.4         110633-110795       c
            962-1173            AC091395.4         108040-108251       c
            1174-1200           AC091395.4         107080-107106       c
            1201-1389           AC091395.4         106190-106378       c
            1390-1433           AC091395.4         94678-94721         c
            1434-1716           AC091395.4         90961-91243         c
FEATURES             Location/Qualifiers
     source          1..1716
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="6"
                     /map="6 1.81 cM"
     gene            1..1716
                     /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"
     CDS             29..1450
                     /gene="Sgce"
                     /gene_synonym="e-SG"
                     /note="isoform 1 is encoded by transcript variant 1;
                     epsilon-sarcoglycan; epsilon-SG"
                     /codon_start=1
                     /product="epsilon-sarcoglycan isoform 1"
                     /protein_id="NP_001123660.1"
                     /db_xref="CCDS:CCDS51718.1"
                     /db_xref="GeneID:20392"
                     /db_xref="MGI:MGI:1329042"
                     /translation="MLLFWWWELGDPCAWTGKGRGTLKMSPATTGTFLLTAFLLSCAD
                     GINGTVNWKTKQASSFSISRKLAAGKKDVYTLFSKVHSDRNVYPSAGVLFVHVLEREY
                     FKGEFPPYPKPGEVSNDPITFNTNLMGYPDRPGWLRYIQRTPYSDGVLYGSPTAENVG
                     KPTIIEITAYNRRTFETARHNLIINIMSAEEFPLPYQAEFFIKNMNVEEMLASEVLGD
                     FLGAVKNVWQPERLNAINITSALDRGGRVPLPINDMKEGVYVMVGADVAFSSCLREVE
                     NPQNQLRCSQEMEPVITCDKKFRTHFHIDWCKISLVDKTKQVSTYQEVVRGEGILPDG
                     GEYKPPSDSLKSRDYYTDFLVTLAVPSAVALVLFLILAYIMCCRREGVEKRDMQTPDI
                     QLVHHSSIQKSTKELRDMSKNREIAWPLSTLPVFHPVTGEVIPPTHTDNYDSTNMPLM
                     QAQQNLPHQTQIPQPQTTGKWYP"
     exon            138..245
                     /gene="Sgce"
                     /gene_synonym="e-SG"
                     /inference="alignment:Splign:2.1.0"
     exon            246..368
                     /gene="Sgce"
                     /gene_synonym="e-SG"
                     /inference="alignment:Splign:2.1.0"
     exon            369..526
                     /gene="Sgce"
                     /gene_synonym="e-SG"
                     /inference="alignment:Splign:2.1.0"
     exon            527..599
                     /gene="Sgce"
                     /gene_synonym="e-SG"
                     /inference="alignment:Splign:2.1.0"
     exon            600..798
                     /gene="Sgce"
                     /gene_synonym="e-SG"
                     /inference="alignment:Splign:2.1.0"
     exon            799..961
                     /gene="Sgce"
                     /gene_synonym="e-SG"
                     /inference="alignment:Splign:2.1.0"
     exon            962..1173
                     /gene="Sgce"
                     /gene_synonym="e-SG"
                     /inference="alignment:Splign:2.1.0"
     exon            1174..1200
                     /gene="Sgce"
                     /gene_synonym="e-SG"
                     /inference="alignment:Splign:2.1.0"
     exon            1201..1389
                     /gene="Sgce"
                     /gene_synonym="e-SG"
                     /inference="alignment:Splign:2.1.0"
     exon            1390..1433
                     /gene="Sgce"
                     /gene_synonym="e-SG"
                     /inference="alignment:Splign:2.1.0"
     exon            1434..1716
                     /gene="Sgce"
                     /gene_synonym="e-SG"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1695..1700
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Sgce"
                     /gene_synonym="e-SG"
                     /note="hexamer: AATAAA"
     polyA_site      1716
                     /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 ctgacagctt ttttattaag ctgtgccgat ggcataaatg gaacagttaa
      181 ctggaagacc aaacaagcca gcagttttag tatcagcagg aaactggctg ctgggaagaa
      241 agatgtgtac actcttttct ccaaggtgca ctctgaccgg aacgtgtacc catctgcagg
      301 tgtcctcttt gttcatgtgt tggagagaga gtattttaag ggtgaatttc caccttatcc
      361 aaagcctggg gaggttagta atgatcccat aacatttaac acaaatttaa tgggctaccc
      421 agatagacct ggatggcttc gatatatcca aaggaccccg tacagtgatg gagtcctgta
      481 tgggtctcca acagctgaaa atgtggggaa accaactatt attgagataa ctgcctacaa
      541 tagacgtacc tttgagactg caaggcataa cttgataatt aatataatgt cagcagaaga
      601 attcccgttg ccatatcaag cagaattctt catcaaaaat atgaatgtgg aagaaatgtt
      661 ggccagcgag gttcttggag actttctcgg ggctgtaaaa aatgtgtggc agccagagcg
      721 cctcaacgcc ataaacatca cgtcagccct ggataggggt ggcagagtgc cgcttcctat
      781 taatgacatg aaggagggtg tttatgtcat ggttggtgcc gatgttgcat tttcttcttg
      841 tttacgagaa gttgaaaatc cacagaatca gttaagatgc agtcaagaaa tggagcctgt
      901 gataacatgc gacaaaaagt tccgaactca ctttcatatc gactggtgca agatttcact
      961 ggttgacaaa acaaagcaag tgtccaccta tcaggaagta gttcgtggcg agggcatttt
     1021 gcccgacggc ggggagtaca agcccccttc ggattctttg aaaagccgag actattacac
     1081 ggatttcctc gttaccctgg ctgtgccctc ggcggtagca ctggtgcttt tcctaatact
     1141 cgcttatatc atgtgctgcc gacgggaagg agtggaaaag agagacatgc aaaccccaga
     1201 tatccagctt gtccatcaca gctcgattca gaaatctacc aaggagcttc gagacatgtc
     1261 caaaaacaga gagattgcat ggcccctgtc taccctgccc gtgttccacc ctgtaactgg
     1321 agaggttata cctcccacgc acacagacaa ctacgacagc accaacatgc cgttgatgca
     1381 ggcacagcag aacttgccac accagactca gatccctcaa ccgcagacta caggtaaatg
     1441 gtatccctga agaaagaaag ctgacagaag caatgagttt ataatcagca ctgctgcagc
     1501 cgtgtctcac ccctttccct tccaataatg catgagcttt cctgacatcg gttacgcatg
     1561 cccactgtgt tgagaaccaa ataccgtgac acatctctca cttactaatg catttttttt
     1621 gtacttaaag catttttgaa aatttataag acatcaacga ctttatattt gttacaataa
     1681 aaagtaaact ttaaaataaa tattaatgga gcctaa
//
