LOCUS       NM_007927               1451 bp    mRNA    linear   ROD 31-DEC-2024
DEFINITION  Mus musculus emerin (Emd), transcript variant 1, mRNA.
ACCESSION   NM_007927
VERSION     NM_007927.4
KEYWORDS    RefSeq; RefSeq Select.
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 1451)
  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 1451)
  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 1451)
  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 1451)
  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 1451)
  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 1451)
  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 1451)
  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 1451)
  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 1451)
  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 1451)
  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.
            
            On Jul 28, 2022 this sequence version replaced NM_007927.3.
            
            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 :: U73902.1, AK146361.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-343               AL807376.4         37077-37419
            344-451             AL807376.4         37594-37701
            452-529             AL807376.4         37839-37916
            530-663             AL807376.4         38129-38262
            664-710             AL807376.4         39264-39310
            711-1451            AL807376.4         39393-40133
FEATURES             Location/Qualifiers
     source          1..1451
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="X"
                     /map="X 37.92 cM"
     gene            1..1451
                     /gene="Emd"
                     /gene_synonym="Sta"
                     /note="emerin"
                     /db_xref="GeneID:13726"
                     /db_xref="MGI:MGI:108117"
     exon            1..343
                     /gene="Emd"
                     /gene_synonym="Sta"
                     /inference="alignment:Splign:2.1.0"
     CDS             262..1041
                     /gene="Emd"
                     /gene_synonym="Sta"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="emerin isoform 1"
                     /protein_id="NP_031953.1"
                     /db_xref="CCDS:CCDS30222.1"
                     /db_xref="GeneID:13726"
                     /db_xref="MGI:MGI:108117"
                     /translation="MDDYAVLSDTELAAVLRQYNIPHGPIVGSTRKLYEKKIFEYETQ
                     RRRLLPPNSSSSSFSYQFSDLDSAAVDSDMYDLPKKEDALLYQSKDYNDDYYEESYLT
                     TKTYGEPESVGMSKSFRQPGTSLVDADTFHHQVRDDIFSSLEEEGKDRERLIYGQDSA
                     YQSIAHYRPISNVSRSSLGLSYYPTSSTSSVSSSSSSPSSWLTRRAIRPEKQAPAAAL
                     GQDRQVPLWGQLLLFLVFAAFLLFVYYSIQAEEGNPFWMDP"
     exon            344..451
                     /gene="Emd"
                     /gene_synonym="Sta"
                     /inference="alignment:Splign:2.1.0"
     exon            452..529
                     /gene="Emd"
                     /gene_synonym="Sta"
                     /inference="alignment:Splign:2.1.0"
     exon            530..663
                     /gene="Emd"
                     /gene_synonym="Sta"
                     /inference="alignment:Splign:2.1.0"
     exon            664..710
                     /gene="Emd"
                     /gene_synonym="Sta"
                     /inference="alignment:Splign:2.1.0"
     exon            711..1451
                     /gene="Emd"
                     /gene_synonym="Sta"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1432..1437
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Emd"
                     /gene_synonym="Sta"
                     /note="hexamer: AATAAA"
     polyA_site      1451
                     /gene="Emd"
                     /gene_synonym="Sta"
                     /note="major polyA site"
ORIGIN      
        1 gccagcccag cctgttccct cagctagacc ggtctgcacc ggccgttctg gctagtttgg
       61 gcctgccctg aggagcgcgc gcaacctgcg tagccgcggc tgtgacgcaa atgtgacggc
      121 ggcgtgacgc gcccacagcc gctcttgagg ctctggcgct tcttcttcta ggctccgagc
      181 ggttggtttc ttgggccctg tctgtaggcc ccggccgccc ctggcgttca acaccgcttc
      241 caggtgccgg ccttgtctgc catggacgac tatgcggttt tgtccgatac tgagctggcc
      301 gcagtgctac gccagtacaa catccctcat gggcctattg tgggttccac tcgcaagctc
      361 tacgaaaaga aaatcttcga gtacgagacc cagagaagga gactcttacc ccccaactcg
      421 tcatcttctt cattctccta tcagttctca gacttggatt cagccgccgt ggactcagac
      481 atgtatgatc tgcccaaaaa agaagacgcc ttactttacc agagcaagga ctataatgat
      541 gactactatg aggagagtta tttgaccacc aagacatacg gggagcctga gtctgtgggc
      601 atgtccaaga gcttccgcca gccggggacc tcacttgtag atgctgatac cttccatcac
      661 caggtgcgtg atgacatttt ctcttcttta gaagaggaag gcaaggatag ggagcgcctc
      721 atctatggcc aagacagtgc ctaccagagc atcgcacact accgccccat ttccaatgtc
      781 tccaggagct ctctgggctt atcatattat cctacatcct ccacctcttc tgtgtcctcc
      841 tcttcatctt ctccctcttc atggcttacc cgacgtgcca ttcggccaga gaagcaggcc
      901 cctgctgctg ctctgggcca ggatcgacag gtcccactct ggggccagct gttactcttc
      961 ctggtctttg ctgcctttct gctctttgtt tactattcca tacaagctga agaaggcaac
     1021 cccttctgga tggatcccta agggtattgg ttttagagca gctcttacca ggagttttgg
     1081 ctgattgcct tatcggtgtt tgctgggggt ggggagggta ggggcttttt tgtgtgttct
     1141 agttgggtgc aaggtctagc ctaaggcaat gcttgtctcc cacctcatcc tgccaaggaa
     1201 gcagcaaatg ttggccttct acagcccagt aggcctacct gtaccttcct ctggagcctc
     1261 ctagccctat tgcctctgac ccttagggta ccggggtctg gtgggaggac ctcacttcat
     1321 tagaggaaaa cttggtggtg gcagtggtag ttgtcatgca tgcctgtttg ttgtcacctt
     1381 ttcagggggt attaacaaag accaccctgg ctttgctttc atggacacaa taataaacat
     1441 gtttattttt a
//
