LOCUS       NM_001410135            1279 bp    mRNA    linear   ROD 31-DEC-2024
DEFINITION  Mus musculus emerin (Emd), transcript variant 3, mRNA.
ACCESSION   NM_001410135
VERSION     NM_001410135.1
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 1279)
  AUTHORS   Li,C., Warren,D.T., Zhou,C., De Silva,S., Wilson,D.G.S.,
            Garcia-Maya,M., Wheeler,M.A., Meinke,P., Sawyer,G., Ehler,E.,
            Wehnert,M., Rao,L., Zhang,Q. and Shanahan,C.M.
  TITLE     Nesprin-2 is a novel scaffold protein for telethonin and FHL-2 in
            the cardiomyocyte sarcomere
  JOURNAL   J Biol Chem 300 (5), 107254 (2024)
   PUBMED   38569934
REFERENCE   2  (bases 1 to 1279)
  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 1279)
  AUTHORS   Wada,E., Matsumoto,K., Susumu,N., Kato,M. and Hayashi,Y.K.
  TITLE     Emerin deficiency does not exacerbate cardiomyopathy in a murine
            model of Emery-Dreifuss muscular dystrophy caused by an LMNA gene
            mutation
  JOURNAL   J Physiol Sci 73 (1), 27 (2023)
   PUBMED   37940872
  REMARK    GeneRIF: Emerin deficiency does not exacerbate cardiomyopathy in a
            murine model of Emery-Dreifuss muscular dystrophy caused by an LMNA
            gene mutation.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1279)
  AUTHORS   Ross,J.A., Arcos-Villacis,N., Battey,E., Boogerd,C., Orellana,C.A.,
            Marhuenda,E., Swiatlowska,P., Hodzic,D., Prin,F., Mohun,T.,
            Catibog,N., Tapia,O., Gerace,L., Iskratsch,T., Shah,A.M. and
            Stroud,M.J.
  TITLE     Lem2 is essential for cardiac development by maintaining nuclear
            integrity
  JOURNAL   Cardiovasc Res 119 (11), 2074-2088 (2023)
   PUBMED   37067297
REFERENCE   5  (bases 1 to 1279)
  AUTHORS   Tang,Y., Zhu,L., Cho,J.S., Li,X.Y. and Weiss,S.J.
  TITLE     Matrix remodeling controls a nuclear lamin A/C-emerin network that
            directs Wnt-regulated stem cell fate
  JOURNAL   Dev Cell 57 (4), 480-495 (2022)
   PUBMED   35150612
REFERENCE   6  (bases 1 to 1279)
  AUTHORS   Lattanzi,G., Cenni,V., Marmiroli,S., Capanni,C., Mattioli,E.,
            Merlini,L., Squarzoni,S. and Maraldi,N.M.
  TITLE     Association of emerin with nuclear and cytoplasmic actin is
            regulated in differentiating myoblasts
  JOURNAL   Biochem Biophys Res Commun 303 (3), 764-770 (2003)
   PUBMED   12670476
  REMARK    GeneRIF: emerin and lamin A/C are bound to actin at the late stages
            of myotube differentiation
REFERENCE   7  (bases 1 to 1279)
  AUTHORS   Nili,E., Cojocaru,G.S., Kalma,Y., Ginsberg,D., Copeland,N.G.,
            Gilbert,D.J., Jenkins,N.A., Berger,R., Shaklai,S., Amariglio,N.,
            Brok-Simoni,F., Simon,A.J. and Rechavi,G.
  TITLE     Nuclear membrane protein LAP2beta mediates transcriptional
            repression alone and together with its binding partner GCL
            (germ-cell-less)
  JOURNAL   J Cell Sci 114 (Pt 18), 3297-3307 (2001)
   PUBMED   11591818
REFERENCE   8  (bases 1 to 1279)
  AUTHORS   Small,K., Wagener,M. and Warren,S.T.
  TITLE     Isolation and characterization of the complete mouse emerin gene
  JOURNAL   Mamm Genome 8 (5), 337-341 (1997)
   PUBMED   9107678
REFERENCE   9  (bases 1 to 1279)
  AUTHORS   Rivella,S., Tamanini,F., Bione,S., Mancini,M., Herman,G.,
            Chatterjee,A., Maestrini,E. and Toniolo,D.
  TITLE     A comparative transcriptional map of a region of 250 kb on the
            human and mouse X chromosome between the G6PD and the FLN1 genes
  JOURNAL   Genomics 28 (3), 377-382 (1995)
   PUBMED   7490070
REFERENCE   10 (bases 1 to 1279)
  AUTHORS   Bione,S., Maestrini,E., Rivella,S., Mancini,M., Regis,S., Romeo,G.
            and Toniolo,D.
  TITLE     Identification of a novel X-linked gene responsible for
            Emery-Dreifuss muscular dystrophy
  JOURNAL   Nat Genet 8 (4), 323-327 (1994)
   PUBMED   7894480
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL807376.4.
            
            Summary: This gene is the founding member of the LEM (Lap2beta,
            Emerin, and Man1) domain gene family. It encodes an integral
            membrane protein of the inner nuclear membrane. This gene may be
            involved in transcriptional regulation and genomic organization. In
            humans, mutations in this gene cause a class of diseases called
            laminopathies, which includes Emery-Dreifuss muscular dystrophy
            (EDMD). [provided by RefSeq, Apr 2013].
            
            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 :: SRR17253014.4152394.1,
                                           SRR13422601.1351158.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-218               AL807376.4         37202-37419
            219-326             AL807376.4         37594-37701
            327-404             AL807376.4         37839-37916
            405-538             AL807376.4         38129-38262
            539-1279            AL807376.4         39393-40133
FEATURES             Location/Qualifiers
     source          1..1279
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="X"
                     /map="X 37.92 cM"
     gene            1..1279
                     /gene="Emd"
                     /gene_synonym="Sta"
                     /note="emerin"
                     /db_xref="GeneID:13726"
                     /db_xref="MGI:MGI:108117"
     exon            1..218
                     /gene="Emd"
                     /gene_synonym="Sta"
                     /inference="alignment:Splign:2.1.0"
     CDS             137..838
                     /gene="Emd"
                     /gene_synonym="Sta"
                     /note="isoform 9 is encoded by transcript variant 3"
                     /codon_start=1
                     /product="emerin isoform 9"
                     /protein_id="NP_001397064.1"
                     /db_xref="GeneID:13726"
                     /db_xref="MGI:MGI:108117"
                     /translation="MDDYAVLSDTELAAVLRQYNIPHGPIVGSTRKLYEKKIFEYETQ
                     RRRLLPPNSSSSSFSYQFSDLDSAAVDSDMYDLPKKEDALLYQSKDYNDDYYEESYLT
                     TKTYGEPESVGMSKSFRQPGTSLVDADTFHHQGAPHLWPRQCLPEHRTLPPHFQCLQE
                     LSGLIILSYILHLFCVLLFIFSLFMAYPTCHSAREAGPCCCSGPGSTGPTLGPAVTLP
                     GLCCLSALCLLFHTS"
     exon            219..326
                     /gene="Emd"
                     /gene_synonym="Sta"
                     /inference="alignment:Splign:2.1.0"
     exon            327..404
                     /gene="Emd"
                     /gene_synonym="Sta"
                     /inference="alignment:Splign:2.1.0"
     exon            405..538
                     /gene="Emd"
                     /gene_synonym="Sta"
                     /inference="alignment:Splign:2.1.0"
     exon            539..1279
                     /gene="Emd"
                     /gene_synonym="Sta"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1260..1265
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Emd"
                     /gene_synonym="Sta"
                     /note="hexamer: AATAAA"
     polyA_site      1279
                     /gene="Emd"
                     /gene_synonym="Sta"
                     /note="major polyA site"
ORIGIN      
        1 gacgcgccca cagccgctct tgaggctctg gcgcttcttc ttctaggctc cgagcggttg
       61 gtttcttggg ccctgtctgt aggccccggc cgcccctggc gttcaacacc gcttccaggt
      121 gccggccttg tctgccatgg acgactatgc ggttttgtcc gatactgagc tggccgcagt
      181 gctacgccag tacaacatcc ctcatgggcc tattgtgggt tccactcgca agctctacga
      241 aaagaaaatc ttcgagtacg agacccagag aaggagactc ttacccccca actcgtcatc
      301 ttcttcattc tcctatcagt tctcagactt ggattcagcc gccgtggact cagacatgta
      361 tgatctgccc aaaaaagaag acgccttact ttaccagagc aaggactata atgatgacta
      421 ctatgaggag agttatttga ccaccaagac atacggggag cctgagtctg tgggcatgtc
      481 caagagcttc cgccagccgg ggacctcact tgtagatgct gataccttcc atcaccaggg
      541 agcgcctcat ctatggccaa gacagtgcct accagagcat cgcacactac cgccccattt
      601 ccaatgtctc caggagctct ctgggcttat catattatcc tacatcctcc acctcttctg
      661 tgtcctcctc ttcatcttct ccctcttcat ggcttacccg acgtgccatt cggccagaga
      721 agcaggcccc tgctgctgct ctgggccagg atcgacaggt cccactctgg ggccagctgt
      781 tactcttcct ggtctttgct gcctttctgc tctttgttta ctattccata caagctgaag
      841 aaggcaaccc cttctggatg gatccctaag ggtattggtt ttagagcagc tcttaccagg
      901 agttttggct gattgcctta tcggtgtttg ctgggggtgg ggagggtagg ggcttttttg
      961 tgtgttctag ttgggtgcaa ggtctagcct aaggcaatgc ttgtctccca cctcatcctg
     1021 ccaaggaagc agcaaatgtt ggccttctac agcccagtag gcctacctgt accttcctct
     1081 ggagcctcct agccctattg cctctgaccc ttagggtacc ggggtctggt gggaggacct
     1141 cacttcatta gaggaaaact tggtggtggc agtggtagtt gtcatgcatg cctgtttgtt
     1201 gtcacctttt cagggggtat taacaaagac caccctggct ttgctttcat ggacacaata
     1261 ataaacatgt ttattttta
//
