LOCUS       NM_010043               3065 bp    mRNA    linear   ROD 11-MAR-2025
DEFINITION  Mus musculus desmin (Des), mRNA.
ACCESSION   NM_010043
VERSION     NM_010043.2
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 3065)
  AUTHORS   Morrison,J.A., Pushel,I., McLennan,R., McKinney,M.C., Gogol,M.M.,
            Scott,A., Krumlauf,R. and Kulesa,P.M.
  TITLE     Comparative analysis of neural crest development in the chick and
            mouse
  JOURNAL   Dev Biol 519, 142-149 (2025)
   PUBMED   39716593
REFERENCE   2  (bases 1 to 3065)
  AUTHORS   Van Wauwe,J., Mahy,A., Craps,S., Ekhteraei-Tousi,S., Vrancaert,P.,
            Kemps,H., Dheedene,W., Donate Puertas,R., Trenson,S.,
            Roderick,H.L., Beerens,M. and Luttun,A.
  TITLE     PRDM16 determines specification of ventricular cardiomyocytes by
            suppressing alternative cell fates
  JOURNAL   Life Sci Alliance 7 (12), e202402719 (2024)
   PUBMED   39304345
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3065)
  AUTHORS   Hashimoto,K., Ohira,M., Kodama,A., Kimoto,M., Inoue,M., Tone,S.,
            Usui,Y., Hanashima,A., Goto,T., Ogura,Y., Ujihara,Y. and Mohri,S.
  TITLE     Loss of connectin novex-3 leads to heart dysfunction associated
            with impaired cardiomyocyte proliferation and abnormal nuclear
            mechanics
  JOURNAL   Sci Rep 14 (1), 13727 (2024)
   PUBMED   38877142
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3065)
  AUTHORS   Berwanger,C., Terres,D., Pesta,D., Eggers,B., Marcus,K., Wittig,I.,
            Wiesner,R.J., Schroder,R. and Clemen,C.S.
  TITLE     Immortalised murine R349P desmin knock-in myotubes exhibit a
            reduced proton leak and decreased ADP/ATP translocase levels in
            purified mitochondria
  JOURNAL   Eur J Cell Biol 103 (2), 151399 (2024)
   PUBMED   38412640
  REMARK    GeneRIF: Immortalised murine R349P desmin knock-in myotubes exhibit
            a reduced proton leak and decreased ADP/ATP translocase levels in
            purified mitochondria.
REFERENCE   5  (bases 1 to 3065)
  AUTHORS   Kitamura,A., Yamamoto,M., Hirouchi,H., Watanabe,G., Taniguchi,S.,
            Sekiya,S., Ishizuka,S., Jeong,J., Higa,K., Yamashita,S. and Abe,S.
  TITLE     Downregulation of SOX9 expression in developing entheses adjacent
            to intramembranous bone
  JOURNAL   PLoS One 19 (5), e0301080 (2024)
   PUBMED   38728328
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3065)
  AUTHORS   Li,H., Choudhary,S.K., Milner,D.J., Munir,M.I., Kuisk,I.R. and
            Capetanaki,Y.
  TITLE     Inhibition of desmin expression blocks myoblast fusion and
            interferes with the myogenic regulators MyoD and myogenin
  JOURNAL   J Cell Biol 124 (5), 827-841 (1994)
   PUBMED   8120103
REFERENCE   7  (bases 1 to 3065)
  AUTHORS   Epstein,D.J., Vekemans,M. and Gros,P.
  TITLE     Splotch (Sp2H), a mutation affecting development of the mouse
            neural tube, shows a deletion within the paired homeodomain of
            Pax-3
  JOURNAL   Cell 67 (4), 767-774 (1991)
   PUBMED   1682057
REFERENCE   8  (bases 1 to 3065)
  AUTHORS   Malo,D., Schurr,E., Epstein,D.J., Vekemans,M., Skamene,E. and
            Gros,P.
  TITLE     The host resistance locus Bcg is tightly linked to a group of
            cytoskeleton-associated protein genes that include villin and
            desmin
  JOURNAL   Genomics 10 (2), 356-364 (1991)
   PUBMED   1676979
REFERENCE   9  (bases 1 to 3065)
  AUTHORS   Epstein,D.J., Malo,D., Vekemans,M. and Gros,P.
  TITLE     Molecular characterization of a deletion encompassing the splotch
            mutation on mouse chromosome 1
  JOURNAL   Genomics 10 (1), 89-93 (1991)
   PUBMED   2045114
REFERENCE   10 (bases 1 to 3065)
  AUTHORS   Li,Z.L., Mattei,M.G., Mattei,J.F. and Paulin,D.
  TITLE     Assignment of the mouse desmin gene to chromosome 1 band C3
  JOURNAL   Genet Res 55 (2), 101-105 (1990)
   PUBMED   2370005
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC166150.2 and AK132391.1.
            
            On Jan 25, 2014 this sequence version replaced NM_010043.1.
            
            Summary: This gene encodes a muscle-specific class III intermediate
            filament. Homopolymers of this protein form a stable
            intracytoplasmic filamentous network connecting myofibrils to each
            other and to the plasma membrane and are essential for maintaining
            the strength and integrity of skeletal, cardiac and smooth muscle
            fibers. Mutations in this gene affect assembly of intermediate
            filaments. Mice lacking this gene are able to develop and reproduce
            but exhibit abnormal muscle fibers. Mutations in the human gene are
            associated with myofibrillar myopathy, dilated cardiomyopathy,
            neurogenic scapuloperoneal syndrome and autosomal recessive
            limb-girdle muscular dystrophy, type 2R. [provided by RefSeq, Jan
            2014].
            
            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 :: AK132391.1, BC031760.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-37                AC166150.2         5590-5626           c
            38-3065             AK132391.1         2-3029
FEATURES             Location/Qualifiers
     source          1..3065
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="1"
                     /map="1 38.85 cM"
     gene            1..3065
                     /gene="Des"
                     /note="desmin"
                     /db_xref="GeneID:13346"
                     /db_xref="MGI:MGI:94885"
     exon            1..701
                     /gene="Des"
                     /inference="alignment:Splign:2.1.0"
     CDS             127..1536
                     /gene="Des"
                     /codon_start=1
                     /product="desmin"
                     /protein_id="NP_034173.1"
                     /db_xref="CCDS:CCDS15071.1"
                     /db_xref="GeneID:13346"
                     /db_xref="MGI:MGI:94885"
                     /translation="MSQAYSSSQRVSSYRRTFGGAPGFSLGSPLSSPVFPRAGFGTKG
                     SSSSMTSRVYQVSRTSGGAGGLGSLRSSRLGTTRAPSYGAGELLDFSLADAVNQEFLA
                     TRTNEKVELQELNDRFANYIEKVRFLEQQNAALAAEVNRLKGREPTRVAELYEEEMRE
                     LRRQVEVLTNQRARVDVERDNLIDDLQRLKAKLQEEIQLREEAENNLAAFRADVDAAT
                     LARIDLERRIESLNEEIAFLKKVHEEEIRELQAQLQEQQVQVEMDMSKPDLTAALRDI
                     RAQYETIAAKNISEAEEWYKSKVSDLTQAANKNNDALRQAKQEMMEYRHQIQSYTCEI
                     DALKGTNDSLMRQMRELEDRFASEANGYQDNIARLEEEIRHLKDEMARHLREYQDLLN
                     VKMALDVEIATYRKLLEGEESRINLPIQTFSALNFRETSPEQRGSEVHTKKTVMIKTI
                     ETRDGEVVSEATQQQHEVL"
     exon            702..762
                     /gene="Des"
                     /inference="alignment:Splign:2.1.0"
     exon            763..858
                     /gene="Des"
                     /inference="alignment:Splign:2.1.0"
     exon            859..1020
                     /gene="Des"
                     /inference="alignment:Splign:2.1.0"
     exon            1021..1146
                     /gene="Des"
                     /inference="alignment:Splign:2.1.0"
     exon            1147..1367
                     /gene="Des"
                     /inference="alignment:Splign:2.1.0"
     exon            1368..1411
                     /gene="Des"
                     /inference="alignment:Splign:2.1.0"
     exon            1412..1494
                     /gene="Des"
                     /inference="alignment:Splign:2.1.0"
     exon            1495..3065
                     /gene="Des"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2183..2188
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Des"
                     /note="hexamer: AATAAA"
     polyA_site      2202
                     /gene="Des"
                     /note="major polyA site"
     regulatory      2801..2806
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Des"
                     /note="hexamer: ATTAAA"
     polyA_site      2824
                     /gene="Des"
ORIGIN      
        1 ggagggctac aaatagtgca gacagctaag gggctccgtc acccatcttc acatccactc
       61 cagccggctg cccgcccgct gcctcctctg tgcgtccgcc cagccagcct cgtccacgcc
      121 gccaccatga gccaggccta ctcgtccagc cagcgcgtgt cctcctaccg ccgcaccttc
      181 ggcggcgccc cgggcttctc tctgggctcc ccgctgagct ctcccgtgtt ccctcgagca
      241 ggcttcggta ccaagggctc ctcgagttca atgacatccc gcgtgtacca ggtgtcgcgc
      301 acgtcgggcg gggctggagg cttggggtcg ctgcggtcta gccggctggg gaccacccga
      361 gcgccatcct atggcgcggg cgagctgctg gacttctccc tggccgacgc tgtgaaccag
      421 gagttcctgg ccacgcgcac caacgagaag gtggagctgc aagagctcaa tgaccgcttc
      481 gccaactaca tcgagaaggt gcgcttcttg gagcagcaga acgccgcgct cgccgccgag
      541 gtcaaccggc tcaagggccg cgaaccgact cgggtcgccg agctctacga ggaggagatg
      601 cgcgagctgc ggcgccaggt ggaggtgctc accaaccagc gcgcccgggt cgacgtggag
      661 cgtgacaacc tgatagacga cctgcagagg ctcaaggcca aactacagga ggaaatccaa
      721 ctaagagaag aagcagagaa caacttggct gccttccgag cggatgtgga tgcagccact
      781 ctagctcgta ttgacctgga gcgcagaatc gaatccctca acgaggagat cgcgttcctt
      841 aagaaagtgc atgaagagga gatccgtgag cttcaggccc agcttcagga acagcaggtc
      901 caggtggaga tggacatgtc caagccggac ctcacagctg ccctcaggga catccgggct
      961 cagtatgaga ccatcgcggc taagaacatc tctgaggctg aagaatggta caagtccaag
     1021 gtttcagact tgactcaggc agccaataag aacaacgatg cgctgcgcca agccaagcag
     1081 gagatgatgg aataccgaca ccagatccag tcctacacct gcgagattga tgccctcaag
     1141 ggcaccaacg actccctgat gaggcagatg agggagctgg aggatcgctt tgccagcgag
     1201 gccaatggct atcaggacaa cattgcgcgc ctggaggagg agatccgaca cctaaaggat
     1261 gagatggccc gccatctgcg cgagtaccag gacctgctca atgtgaagat ggccttggat
     1321 gtggagatcg ccacctaccg gaagctactg gagggcgagg agagcaggat caaccttcct
     1381 atccagacct tctctgctct caacttccga gaaaccagcc ccgagcaaag gggttctgaa
     1441 gtccatacca aaaagacagt gatgatcaag accattgaga cccgggatgg agaggttgtc
     1501 agcgaggcta cacagcaaca acatgaagtg ctgtaagcca ggaattcagt gtcctggccc
     1561 cgtcctcact gcctcctgaa gccagcctct tccactctcg gatatcacac ccagccactt
     1621 ttctccactc acaggctctg accccccctc accgatcacc cctttgtggt cttcatgctg
     1681 cccaacccca gggaacccct cagccacctc tgcagaccct cccatgagcc ctggctattg
     1741 gcaggtgtca aagctggctc ttaagagaga acccagctca agtcatcgcc cttccccttc
     1801 cacctttgtg acccctggct taggagaggg taccagagag ggtgttggga tctgcagggt
     1861 caggaccgag tttgtggaca tccccagcct gggtcagaga cagaatgaag cctcagcgag
     1921 ctgagatgga gagtgggggg cctgaaaact gccctcatgg cccctctctt tcccatcgca
     1981 gcccaggatg gccttggaaa gcgggggctg taagagggaa gcggaaggtg ctggatgtgg
     2041 gagcaggagc tacagaagga gagaggatgg gtgaggagct ggagaggaag gaagagagag
     2101 gcagagagtg ggctcaggtt ggtgggaggg taccacctcc cctgcctgcc cctcccaccg
     2161 caggggcctg gacagaaaca ataataaaga gacaagcaca aacctgcatg gccctgtcat
     2221 cttgactgtg tctcaggggg agtctggacc gtgtcacacc cccattgccc tgggatgaac
     2281 tgtgtcagtg tcatgctcag cgagattgaa cagtaggcct ctgggtgctg tagtctgggg
     2341 agcgtggggt gctggagaag gggtttctgt taaaaagcca cagagccttc ggtccagcct
     2401 tctatcccct taggctacct atccccttaa tatcacctgg gcatcgggta aggtagggat
     2461 ggggacagtc ctattctaca gactggctgt gaaggaagtt ccctcggtcc ttttgtcccc
     2521 aaggcactgc cagtcccttt ccattgagac aatgtctcct gtaacccaga ctggctgcaa
     2581 actccctctg tacccaacca ttcagcttta aactcctcat cctcgaggct cagcctttta
     2641 accctttctt taatgcgcag aagccgatcc aggcaaaata acgttgttca cagaagtgca
     2701 aagacaagac tttttacttg ggtgaaaaac agctcggcac tcttaagaga atgtcaagcc
     2761 accctctatc cataagcagt tccaatggaa tttagtctca attaaaatac cagagggagc
     2821 cagggccggt gtgctgcctg taatcctaac aggggctcaa gaggttggga ccagaagact
     2881 tcaggttcaa agccagcctc tgcttcctaa tgaggccctg tataagaaac aaaacaaaac
     2941 aaatacaaac aacaacaccc aagaacaaac agaaggaaaa tttgaggtag ttaggggaaa
     3001 tggaagggta taggagttat tgaagaaaag aaaagagaaa tcaattgaat aaaatatgta
     3061 tatgt
//
