LOCUS       NM_000117               1281 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens emerin (EMD), mRNA.
ACCESSION   NM_000117
VERSION     NM_000117.3
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 1281)
  AUTHORS   Popeda,M., Kowalski,K., Wenta,T., Beznoussenko,G.V., Rychlowski,M.,
            Mironov,A., Lavagnino,Z., Barozzi,S., Richert,J., Bertolio,R.,
            Myszczynski,K., Szade,J., Bienkowski,M., Miszewski,K.,
            Matuszewski,M., Zaczek,A.J., Braga,L., Del Sal,G.,
            Bednarz-Knoll,N., Maiuri,P. and Nastaly,P.
  TITLE     Emerin mislocalization during chromatin bridge resolution can drive
            prostate cancer cell invasiveness in a collagen-rich
            microenvironment
  JOURNAL   Exp Mol Med 56 (9), 2016-2032 (2024)
   PUBMED   39218980
  REMARK    GeneRIF: Emerin mislocalization during chromatin bridge resolution
            can drive prostate cancer cell invasiveness in a collagen-rich
            microenvironment.
REFERENCE   2  (bases 1 to 1281)
  AUTHORS   Jin,Q., Pandey,D., Thompson,C.B., Lewis,S., Sung,H.W., Nguyen,T.D.,
            Kuo,S., Wilson,K.L., Gracias,D.H. and Romer,L.H.
  TITLE     Acute downregulation of emerin alters actomyosin cytoskeleton
            connectivity and function
  JOURNAL   Biophys J 122 (18), 3690-3703 (2023)
   PUBMED   37254483
  REMARK    GeneRIF: Acute downregulation of emerin alters actomyosin
            cytoskeleton connectivity and function.
REFERENCE   3  (bases 1 to 1281)
  AUTHORS   Snyers,L., Lohnert,R., Weipoltshammer,K. and Schofer,C.
  TITLE     Emerin prevents BAF-mediated aggregation of lamin A on chromosomes
            in telophase to allow nuclear membrane expansion and nuclear lamina
            formation
  JOURNAL   Mol Biol Cell 33 (14), ar137 (2022)
   PUBMED   36200863
  REMARK    GeneRIF: Emerin prevents BAF-mediated aggregation of lamin A on
            chromosomes in telophase to allow nuclear membrane expansion and
            nuclear lamina formation.
REFERENCE   4  (bases 1 to 1281)
  AUTHORS   Zhang,C., Cui,J., Cao,L., Tian,X., Miao,Y., Wang,Y., Qiu,S.,
            Guo,W., Ma,L., Xia,J. and Zhang,X.
  TITLE     ISGylation of EMD promotes its interaction with PDHA to inhibit
            aerobic oxidation in lung adenocarcinoma
  JOURNAL   J Cell Mol Med 26 (19), 5078-5094 (2022)
   PUBMED   36071546
  REMARK    GeneRIF: ISGylation of EMD promotes its interaction with PDHA to
            inhibit aerobic oxidation in lung adenocarcinoma.
REFERENCE   5  (bases 1 to 1281)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   6  (bases 1 to 1281)
  AUTHORS   Nagano,A., Koga,R., Ogawa,M., Kurano,Y., Kawada,J., Okada,R.,
            Hayashi,Y.K., Tsukahara,T. and Arahata,K.
  TITLE     Emerin deficiency at the nuclear membrane in patients with
            Emery-Dreifuss muscular dystrophy
  JOURNAL   Nat Genet 12 (3), 254-259 (1996)
   PUBMED   8589715
REFERENCE   7  (bases 1 to 1281)
  AUTHORS   Bione,S., Small,K., Aksmanovic,V.M., D'Urso,M., Ciccodicola,A.,
            Merlini,L., Morandi,L., Kress,W., Yates,J.R., Warren,S.T. et al.
  TITLE     Identification of new mutations in the Emery-Dreifuss muscular
            dystrophy gene and evidence for genetic heterogeneity of the
            disease
  JOURNAL   Hum Mol Genet 4 (10), 1859-1863 (1995)
   PUBMED   8595407
REFERENCE   8  (bases 1 to 1281)
  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
REFERENCE   9  (bases 1 to 1281)
  AUTHORS   Bione,S., Tamanini,F., Maestrini,E., Tribioli,C., Poustka,A.,
            Torri,G., Rivella,S. and Toniolo,D.
  TITLE     Transcriptional organization of a 450-kb region of the human X
            chromosome in Xq28
  JOURNAL   Proc Natl Acad Sci U S A 90 (23), 10977-10981 (1993)
   PUBMED   8248200
REFERENCE   10 (bases 1 to 1281)
  AUTHORS   Bonne,G., Leturcq,F. and Ben Yaou,R.
  TITLE     Emery-Dreifuss Muscular Dystrophy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301609
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CX781694.1 and BC000738.2.
            
            On Aug 31, 2019 this sequence version replaced NM_000117.2.
            
            Summary: Emerin is a serine-rich nuclear membrane protein and a
            member of the nuclear lamina-associated protein family. It mediates
            membrane anchorage to the cytoskeleton. Dreifuss-Emery muscular
            dystrophy is an X-linked inherited degenerative myopathy resulting
            from mutation in the emerin gene. [provided by RefSeq, Jul 2008].
            
            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 :: BC000738.2, X82434.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369842.9/ ENSP00000358857.4
            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
            1-68                CX781694.1         59-126
            69-1281             BC000738.2         1-1213
FEATURES             Location/Qualifiers
     source          1..1281
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..1281
                     /gene="EMD"
                     /gene_synonym="EDMD; LEMD5; STA"
                     /note="emerin"
                     /db_xref="GeneID:2010"
                     /db_xref="HGNC:HGNC:3331"
                     /db_xref="MIM:300384"
     exon            1..272
                     /gene="EMD"
                     /gene_synonym="EDMD; LEMD5; STA"
                     /inference="alignment:Splign:2.1.0"
     CDS             191..955
                     /gene="EMD"
                     /gene_synonym="EDMD; LEMD5; STA"
                     /note="LEM domain containing 5"
                     /codon_start=1
                     /product="emerin"
                     /protein_id="NP_000108.1"
                     /db_xref="CCDS:CCDS14745.1"
                     /db_xref="GeneID:2010"
                     /db_xref="HGNC:HGNC:3331"
                     /db_xref="MIM:300384"
                     /translation="MDNYADLSDTELTTLLRRYNIPHGPVVGSTRRLYEKKIFEYETQ
                     RRRLSPPSSSAASSYSFSDLNSTRGDADMYDLPKKEDALLYQSKGYNDDYYEESYFTT
                     RTYGEPESAGPSRAVRQSVTSFPDADAFHHQVHDDDLLSSSEEECKDRERPMYGRDSA
                     YQSITHYRPVSASRSSLDLSYYPTSSSTSFMSSSSSSSSWLTRRAIRPENRAPGAGLG
                     QDRQVPLWGQLLLFLVFVIVLFFIYHFMQAEEGNPF"
     exon            273..377
                     /gene="EMD"
                     /gene_synonym="EDMD; LEMD5; STA"
                     /inference="alignment:Splign:2.1.0"
     exon            378..455
                     /gene="EMD"
                     /gene_synonym="EDMD; LEMD5; STA"
                     /inference="alignment:Splign:2.1.0"
     exon            456..589
                     /gene="EMD"
                     /gene_synonym="EDMD; LEMD5; STA"
                     /inference="alignment:Splign:2.1.0"
     exon            590..639
                     /gene="EMD"
                     /gene_synonym="EDMD; LEMD5; STA"
                     /inference="alignment:Splign:2.1.0"
     exon            640..1281
                     /gene="EMD"
                     /gene_synonym="EDMD; LEMD5; STA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1258..1263
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EMD"
                     /gene_synonym="EDMD; LEMD5; STA"
                     /note="hexamer: AATAAA"
     polyA_site      1281
                     /gene="EMD"
                     /gene_synonym="EDMD; LEMD5; STA"
                     /note="major polyA site"
ORIGIN      
        1 agcctgcgga gccagcggcc gtgacgcgac aacgattcgg ctgtgacgcg acaacgattc
       61 ggctgtgacg cgagcgcggc cgctcccgat gcgctcgtgc cgcccccgcc gtgctcctcg
      121 gcagccgttg ctcggccggt tttggtaggc ccgggccgcc gccaggcctc cgcctgagcc
      181 cgcacccgcc atggacaact acgcagatct ttcggatacc gagctgacca ccttgctgcg
      241 ccggtacaac atcccgcacg ggcctgtagt aggatcaact cgtaggcttt acgagaagaa
      301 gatcttcgag tacgagaccc agaggcggcg gctctcgccc cccagctcgt ccgccgcctc
      361 ctcttatagc ttctctgact tgaattcgac tagaggggat gcagatatgt atgatcttcc
      421 caagaaagag gacgctttac tctaccagag caagggctac aatgacgact actatgaaga
      481 gagctacttc accaccagga cttatgggga gcccgagtct gccggcccgt ccagggctgt
      541 ccgccagtca gtgacttcat tcccagatgc tgacgctttc catcaccagg tgcatgatga
      601 cgatcttttg tcttcttctg aagaggagtg caaggatagg gaacgcccca tgtacggccg
      661 ggacagtgcc taccagagca tcacgcacta ccgccctgtt tcagcctcca ggagctccct
      721 ggacctgtcc tattatccta cttcctcctc cacctctttt atgtcctcct catcatcttc
      781 ctcttcatgg ctcacccgcc gtgccatccg gcctgaaaac cgtgctcctg gggctgggct
      841 gggccaggat cgccaggtcc cgctctgggg ccagctgctg cttttcctgg tctttgtgat
      901 cgtcctcttc ttcatttacc acttcatgca ggctgaagaa ggcaacccct tctagaggga
      961 gccatgaggg tctgggcttc agagctaggt ctttggggaa gtcctggctg actgccttag
     1021 cagtgggggt gggggtgggg gcaggggcag gggctttatg tgtttttgct tggggggcgc
     1081 tgggcctagc ccagagtagt gcttgctccc cctgccttgt cccaccaggg aggcagcaga
     1141 ctcaggccct ccatggtcct ctttgtcatt ttgttgacat gcattcctcc ttttgtcatc
     1201 ttgttggggg gaggggatta accaaaggcc accctgactt tgtttttgtg gacacacaat
     1261 aaaagccccg tttatttgta a
//
