LOCUS       NP_001123660             473 aa            linear   ROD 24-SEP-2024
DEFINITION  epsilon-sarcoglycan isoform 1 [Mus musculus].
ACCESSION   NP_001123660
VERSION     NP_001123660.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 473)
  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  (residues 1 to 473)
  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  (residues 1 to 473)
  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  (residues 1 to 473)
  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  (residues 1 to 473)
  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  (residues 1 to 473)
  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  (residues 1 to 473)
  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  (residues 1 to 473)
  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  (residues 1 to 473)
  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 (residues 1 to 473)
  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.
            
            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##
FEATURES             Location/Qualifiers
     source          1..473
                     /organism="Mus musculus"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="6"
                     /map="6 1.81 cM"
     Protein         1..473
                     /product="epsilon-sarcoglycan isoform 1"
                     /note="epsilon-sarcoglycan; epsilon-SG"
                     /calculated_mol_wt=53401
     Region          79..455
                     /region_name="Sarcoglycan_2"
                     /note="Sarcoglycan alpha/epsilon; pfam05510"
                     /db_xref="CDD:461668"
     CDS             1..473
                     /gene="Sgce"
                     /gene_synonym="e-SG"
                     /coded_by="NM_001130188.2:29..1450"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS51718.1"
                     /db_xref="GeneID:20392"
                     /db_xref="MGI:MGI:1329042"
ORIGIN      
        1 mllfwwwelg dpcawtgkgr gtlkmspatt gtflltafll scadgingtv nwktkqassf
       61 sisrklaagk kdvytlfskv hsdrnvypsa gvlfvhvler eyfkgefppy pkpgevsndp
      121 itfntnlmgy pdrpgwlryi qrtpysdgvl ygsptaenvg kptiieitay nrrtfetarh
      181 nliinimsae efplpyqaef fiknmnveem lasevlgdfl gavknvwqpe rlnainitsa
      241 ldrggrvplp indmkegvyv mvgadvafss clrevenpqn qlrcsqemep vitcdkkfrt
      301 hfhidwckis lvdktkqvst yqevvrgegi lpdggeykpp sdslksrdyy tdflvtlavp
      361 savalvlfli layimccrre gvekrdmqtp diqlvhhssi qkstkelrdm sknreiawpl
      421 stlpvfhpvt gevippthtd nydstnmplm qaqqnlphqt qipqpqttgk wyp
//
