LOCUS       NM_003919               1868 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens sarcoglycan epsilon (SGCE), transcript variant 2,
            mRNA.
ACCESSION   NM_003919
VERSION     NM_003919.3
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 1868)
  AUTHORS   Qiu,T., Hou,L., Zhao,L., Wang,X., Zhou,Z., Yang,C., Zhang,H.,
            Jiang,D., Jiao,B. and Chen,C.
  TITLE     SGCE promotes breast cancer stemness by promoting the transcription
            of FGF-BP1 by Sp1
  JOURNAL   J Biol Chem 299 (11), 105351 (2023)
   PUBMED   37838174
  REMARK    GeneRIF: SGCE promotes breast cancer stemness by promoting the
            transcription of FGF-BP1 by Sp1.
REFERENCE   2  (bases 1 to 1868)
  AUTHORS   Sperandeo,A., Tamburini,C., Noakes,Z., de la Fuente,D.C., Keefe,F.,
            Petter,O., Plumbly,W., Clifton,N.E., Li,M. and Peall,K.J.
  TITLE     Cortical neuronal hyperexcitability and synaptic changes in SGCE
            mutation-positive myoclonus dystonia
  JOURNAL   Brain 146 (4), 1523-1541 (2023)
   PUBMED   36204995
  REMARK    GeneRIF: Cortical neuronal hyperexcitability and synaptic changes
            in SGCE mutation-positive myoclonus dystonia.
REFERENCE   3  (bases 1 to 1868)
  AUTHORS   Azuma,K., Horisawa,S., Mashimo,H., Fukuda,M., Kumada,S.,
            Kawamata,T., Taira,T. and Akagawa,H.
  TITLE     Loss-of-function mutations in SGCE found in Japanese patients with
            myoclonus-dystonia
  JOURNAL   Clin Genet 103 (2), 209-213 (2023)
   PUBMED   36161439
  REMARK    GeneRIF: Loss-of-function mutations in SGCE found in Japanese
            patients with myoclonus-dystonia.
REFERENCE   4  (bases 1 to 1868)
  AUTHORS   Cazurro-Gutierrez,A., Marce-Grau,A., Correa-Vela,M., Salazar,A.,
            Vanegas,M.I., Macaya,A., Bayes,A. and Perez-Duenas,B.
  TITLE     epsilon-Sarcoglycan: Unraveling the Myoclonus-Dystonia Gene
  JOURNAL   Mol Neurobiol 58 (8), 3938-3952 (2021)
   PUBMED   33886091
  REMARK    GeneRIF: epsilon-Sarcoglycan: Unraveling the Myoclonus-Dystonia
            Gene.
            Review article
REFERENCE   5  (bases 1 to 1868)
  AUTHORS   Muller,B., Hedrich,K., Kock,N., Dragasevic,N., Svetel,M.,
            Garrels,J., Landt,O., Nitschke,M., Pramstaller,P.P., Reik,W.,
            Schwinger,E., Sperner,J., Ozelius,L., Kostic,V. and Klein,C.
  TITLE     Evidence that paternal expression of the epsilon-sarcoglycan gene
            accounts for reduced penetrance in myoclonus-dystonia
  JOURNAL   Am J Hum Genet 71 (6), 1303-1311 (2002)
   PUBMED   12444570
  REMARK    GeneRIF: Evidence that paternal expression of the
            epsilon-sarcoglycan gene accounts for reduced penetrance in
            myoclonus-dystonia
REFERENCE   6  (bases 1 to 1868)
  AUTHORS   Nygaard,T.G., Raymond,D., Chen,C., Nishino,I., Greene,P.E.,
            Jennings,D., Heiman,G.A., Klein,C., Saunders-Pullman,R.J.,
            Kramer,P., Ozelius,L.J. and Bressman,S.B.
  TITLE     Localization of a gene for myoclonus-dystonia to chromosome
            7q21-q31
  JOURNAL   Ann Neurol 46 (5), 794-798 (1999)
   PUBMED   10554001
REFERENCE   7  (bases 1 to 1868)
  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   8  (bases 1 to 1868)
  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]
REFERENCE   9  (bases 1 to 1868)
  AUTHORS   Raymond,D., Saunders-Pullman,R. and Ozelius,L.
  TITLE     SGCE Myoclonus-Dystonia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301587
REFERENCE   10 (bases 1 to 1868)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AJ000534.1, AY359042.1 and
            AC069292.12.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_003919.2.
            
            Summary: This gene encodes the epsilon member of the sarcoglycan
            family. Sarcoglycans are transmembrane proteins that are components
            of the dystrophin-glycoprotein complex, which link the actin
            cytoskeleton to the extracellular matrix. Unlike other family
            members which are predominantly expressed in striated muscle, the
            epsilon sarcoglycan is more broadly expressed. Mutations in this
            gene are associated with myoclonus-dystonia syndrome. This gene is
            imprinted, with preferential expression from the paternal allele.
            Alternatively spliced transcript variants encoding different
            isoforms have been found for this gene. A pseudogene associated
            with this gene is located on chromosome 2. [provided by RefSeq, Oct
            2016].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the 5' coding region, compared to variant 5. It encodes
            isoform 2, which lacks an internal in-frame segment and is shorter,
            compared to isoform 5.
            
            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 :: SRR1660805.128916.1,
                                           SRR1803613.219043.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            imprinted gene         :: PMID: 12444570
            MANE Ensembl match     :: ENST00000648936.2/ ENSP00000497130.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1618              AJ000534.1         34-1651
            1619-1624           AY359042.1         1601-1606
            1625-1868           AC069292.12        11192-11435         c
FEATURES             Location/Qualifiers
     source          1..1868
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21.3"
     gene            1..1868
                     /gene="SGCE"
                     /gene_synonym="DYT11; epsilon-SG; ESG"
                     /note="sarcoglycan epsilon"
                     /db_xref="GeneID:8910"
                     /db_xref="HGNC:HGNC:10808"
                     /db_xref="MIM:604149"
     exon            1..144
                     /gene="SGCE"
                     /gene_synonym="DYT11; epsilon-SG; ESG"
                     /inference="alignment:Splign:2.1.0"
     CDS             36..1349
                     /gene="SGCE"
                     /gene_synonym="DYT11; epsilon-SG; ESG"
                     /note="isoform 2 is encoded by transcript variant 2;
                     dystonia 11, myoclonic"
                     /codon_start=1
                     /product="epsilon-sarcoglycan isoform 2"
                     /protein_id="NP_003910.1"
                     /db_xref="CCDS:CCDS5637.1"
                     /db_xref="GeneID:8910"
                     /db_xref="HGNC:HGNC:10808"
                     /db_xref="MIM:604149"
                     /translation="MQLPRWWELGDPCAWTGQGRGTRRMSPATTGTFLLTVYSIFSKV
                     HSDRNVYPSAGVLFVHVLEREYFKGEFPPYPKPGEISNDPITFNTNLMGYPDRPGWLR
                     YIQRTPYSDGVLYGSPTAENVGKPTIIEITAYNRRTFETARHNLIINIMSAEDFPLPY
                     QAEFFIKNMNVEEMLASEVLGDFLGAVKNVWQPERLNAINITSALDRGGRVPLPINDL
                     KEGVYVMVGADVPFSSCLREVENPQNQLRCSQEMEPVITCDKKFRTQFYIDWCKISLV
                     DKTKQVSTYQEVIRGEGILPDGGEYKPPSDSLKSRDYYTDFLITLAVPSAVALVLFLI
                     LAYIMCCRREGVEKRNMQTPDIQLVHHSAIQKSTKELRDMSKNREIAWPLSTLPVFHP
                     VTGEIIPPLHTDNYDSTNMPLMQTQQNLPHQTQIPQQQTTGKWYP"
     exon            145..267
                     /gene="SGCE"
                     /gene_synonym="DYT11; epsilon-SG; ESG"
                     /inference="alignment:Splign:2.1.0"
     exon            268..425
                     /gene="SGCE"
                     /gene_synonym="DYT11; epsilon-SG; ESG"
                     /inference="alignment:Splign:2.1.0"
     exon            426..498
                     /gene="SGCE"
                     /gene_synonym="DYT11; epsilon-SG; ESG"
                     /inference="alignment:Splign:2.1.0"
     exon            499..697
                     /gene="SGCE"
                     /gene_synonym="DYT11; epsilon-SG; ESG"
                     /inference="alignment:Splign:2.1.0"
     exon            698..860
                     /gene="SGCE"
                     /gene_synonym="DYT11; epsilon-SG; ESG"
                     /inference="alignment:Splign:2.1.0"
     exon            861..1072
                     /gene="SGCE"
                     /gene_synonym="DYT11; epsilon-SG; ESG"
                     /inference="alignment:Splign:2.1.0"
     exon            1073..1099
                     /gene="SGCE"
                     /gene_synonym="DYT11; epsilon-SG; ESG"
                     /inference="alignment:Splign:2.1.0"
     exon            1100..1288
                     /gene="SGCE"
                     /gene_synonym="DYT11; epsilon-SG; ESG"
                     /inference="alignment:Splign:2.1.0"
     exon            1289..1332
                     /gene="SGCE"
                     /gene_synonym="DYT11; epsilon-SG; ESG"
                     /inference="alignment:Splign:2.1.0"
     exon            1333..1868
                     /gene="SGCE"
                     /gene_synonym="DYT11; epsilon-SG; ESG"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1581..1586
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SGCE"
                     /gene_synonym="DYT11; epsilon-SG; ESG"
                     /note="hexamer: AATAAA"
     regulatory      1600..1605
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SGCE"
                     /gene_synonym="DYT11; epsilon-SG; ESG"
                     /note="hexamer: AATAAA"
     polyA_site      1605
                     /gene="SGCE"
                     /gene_synonym="DYT11; epsilon-SG; ESG"
                     /note="major polyA site"
     polyA_site      1624
                     /gene="SGCE"
                     /gene_synonym="DYT11; epsilon-SG; ESG"
                     /note="major polyA site"
ORIGIN      
        1 gagaatcgag gacggacggc ctagccaggc caagaatgca attgccccgg tggtgggagc
       61 tgggagaccc ctgtgcttgg acgggacagg gtcgggggac acgcaggatg agccccgcga
      121 ccactggcac attcttgctg acagtgtaca gtattttctc caaggtacac tccgatcgga
      181 atgtataccc atcagcaggt gtcctctttg ttcatgtttt ggaaagagaa tattttaagg
      241 gggaatttcc accttaccca aaacctggcg agattagtaa tgatcccata acatttaata
      301 caaatttaat gggttaccca gaccgacctg gatggcttcg atatatccaa aggacaccat
      361 atagtgatgg agtcctatat gggtccccaa cagctgaaaa tgtggggaag ccaacaatca
      421 ttgagataac tgcctacaac aggcgcacct ttgagactgc aaggcataat ttgataatta
      481 atataatgtc tgcagaagac ttcccgttgc catatcaagc agaattcttc attaagaata
      541 tgaatgtaga agaaatgttg gccagtgagg ttcttggaga ctttcttggc gcagtgaaaa
      601 atgtgtggca gccagagcgc ctgaacgcca taaacatcac atcggcccta gacaggggtg
      661 gcagggtgcc acttcccatt aatgacctga aggagggcgt ttatgtcatg gttggtgcag
      721 atgtcccgtt ttcttcttgt ttacgagaag ttgaaaatcc acagaatcaa ttgagatgta
      781 gtcaagaaat ggagcctgta ataacatgtg ataaaaaatt tcgtactcaa ttttacattg
      841 actggtgcaa aatttcattg gttgataaaa caaagcaagt gtccacctat caggaagtga
      901 ttcgtggaga ggggatttta cctgatggtg gagaatacaa acccccttct gattctttga
      961 aaagcagaga ctattacacg gatttcctaa ttacactggc tgtgccctcg gcagtggcac
     1021 tggtcctttt tctaatactt gcttatatca tgtgctgccg acgggaaggc gtggaaaaga
     1081 gaaacatgca aacaccagac atccaactgg tccatcacag tgctattcag aaatctacca
     1141 aggagcttcg agacatgtcc aagaatagag agatagcatg gcccctgtca acgcttcctg
     1201 tgttccaccc tgtgactggg gaaatcatac ctcctttaca cacagacaac tatgatagca
     1261 caaacatgcc attgatgcaa acgcagcaga acttgccaca tcagactcag attccccaac
     1321 agcagactac aggtaaatgg tatccctgaa gaaagaaaac tgactgaagc aatgaattta
     1381 taatcagaca atatagcagt tacatcacat ttcttttctc ttccaataat gcatgagctt
     1441 ttctggcata tgttatgcat gttggcagta ttaagtgtat accaaataat acaacataac
     1501 tttcatttta ctaatgtatt tttttgtact taaagcattt ttgacaattt gtaaaacatt
     1561 gatgacttta tatttgttac aataaaagtt gatctttaaa ataaatatta ttaatgaagc
     1621 ctaatgactg gtgaaattta cttcagtaaa ctatttgctt cctatttagt agaaatcttt
     1681 taatcgctag aaacaggttt atgtgttcat tctcattcca caagacttta gtgcttccta
     1741 tgaatatata aaatgcctgt gcctccgtgt tccagttgag caacccattt aaataatact
     1801 ttaactcttg tggcctgtaa atcctgttgt tttatatacc acttgggagt gttttcgaat
     1861 aaacctag
//
