LOCUS       NM_001927               2243 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens desmin (DES), transcript variant 1, mRNA.
ACCESSION   NM_001927
VERSION     NM_001927.4
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 2243)
  AUTHORS   Wilburn,D., Miserlis,D., Fletcher,E., Papoutsi,E., Ismaeel,A.,
            Bradley,C., Ring,A., Wilkinson,T., Smith,R.S., Ferrer,L.,
            Haynatzki,G., Monteleone,P., Banerjee,S., Brisbois,E.,
            Bohannon,W.T. and Koutakis,P.
  TITLE     Skeletal muscle desmin alterations following revascularization in
            peripheral artery disease claudicants
  JOURNAL   Sci Rep 14 (1), 12609 (2024)
   PUBMED   38824194
  REMARK    GeneRIF: Skeletal muscle desmin alterations following
            revascularization in peripheral artery disease claudicants.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2243)
  AUTHORS   Vlachakis,D., Tsilafakis,K., Kostavasili,I., Kossida,S. and
            Mavroidis,M.
  TITLE     Unraveling Desmin's Head Domain Structure and Function
  JOURNAL   Cells 13 (7), 603 (2024)
   PUBMED   38607042
  REMARK    GeneRIF: Unraveling Desmin's Head Domain Structure and Function.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2243)
  AUTHORS   Cenni,V., Evangelisti,C., Santi,S., Sabatelli,P., Neri,S.,
            Cavallo,M., Lattanzi,G. and Mattioli,E.
  TITLE     Desmin and Plectin Recruitment to the Nucleus and Nuclei
            Orientation Are Lost in Emery-Dreifuss Muscular Dystrophy Myoblasts
            Subjected to Mechanical Stimulation
  JOURNAL   Cells 13 (2), 162 (2024)
   PUBMED   38247853
  REMARK    GeneRIF: Desmin and Plectin Recruitment to the Nucleus and Nuclei
            Orientation Are Lost in Emery-Dreifuss Muscular Dystrophy Myoblasts
            Subjected to Mechanical Stimulation.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2243)
  AUTHORS   Selcen,D. and Engel,A.G.
  TITLE     Myofibrillar Myopathy - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301672
REFERENCE   5  (bases 1 to 2243)
  AUTHORS   Pegoraro,E. and Hoffman,E.P.
  TITLE     Limb-Girdle Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301582
REFERENCE   6  (bases 1 to 2243)
  AUTHORS   Hershberger,R.E. and Jordan,E.
  TITLE     Dilated Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301486
REFERENCE   7  (bases 1 to 2243)
  AUTHORS   McNally,E., MacLeod,H. and Dellefave-Castillo,L.
  TITLE     Arrhythmogenic Right Ventricular Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301310
REFERENCE   8  (bases 1 to 2243)
  AUTHORS   Viegas-Pequignot,E., Li,Z.L., Dutrillaux,B., Apiou,F. and Paulin,D.
  TITLE     Assignment of human desmin gene to band 2q35 by nonradioactive in
            situ hybridization
  JOURNAL   Hum Genet 83 (1), 33-36 (1989)
   PUBMED   2670738
REFERENCE   9  (bases 1 to 2243)
  AUTHORS   Li,Z.L., Lilienbaum,A., Butler-Browne,G. and Paulin,D.
  TITLE     Human desmin-coding gene: complete nucleotide sequence,
            characterization and regulation of expression during myogenesis and
            development
  JOURNAL   Gene 78 (2), 243-254 (1989)
   PUBMED   2673923
REFERENCE   10 (bases 1 to 2243)
  AUTHORS   Langley,R.C. Jr. and Cohen,C.M.
  TITLE     Association of spectrin with desmin intermediate filaments
  JOURNAL   J Cell Biochem 30 (2), 101-109 (1986)
   PUBMED   2939097
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC032116.2, BQ941246.1,
            AL541778.3 and BC010072.2.
            
            On May 17, 2019 this sequence version replaced NM_001927.3.
            
            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. Mutations in this gene are
            associated with desmin-related myopathy, a familial cardiac and
            skeletal myopathy (CSM), and with distal myopathies. [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 :: SRR3476690.1148403.1, BC032116.2
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373960.4/ ENSP00000363071.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-157               BC032116.2         13-169
            158-188             BQ941246.1         132-162
            189-909             BC032116.2         201-921
            910-1597            AL541778.3         186-873
            1598-2243           BC010072.2         1582-2227
FEATURES             Location/Qualifiers
     source          1..2243
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     gene            1..2243
                     /gene="DES"
                     /gene_synonym="CDCD3; CSM1; CSM2; LGMD1D; LGMD1E; LGMD2R"
                     /note="desmin"
                     /db_xref="GeneID:1674"
                     /db_xref="HGNC:HGNC:2770"
                     /db_xref="MIM:125660"
     exon            1..664
                     /gene="DES"
                     /gene_synonym="CDCD3; CSM1; CSM2; LGMD1D; LGMD1E; LGMD2R"
                     /inference="alignment:Splign:2.1.0"
     exon            665..725
                     /gene="DES"
                     /gene_synonym="CDCD3; CSM1; CSM2; LGMD1D; LGMD1E; LGMD2R"
                     /inference="alignment:Splign:2.1.0"
     exon            726..821
                     /gene="DES"
                     /gene_synonym="CDCD3; CSM1; CSM2; LGMD1D; LGMD1E; LGMD2R"
                     /inference="alignment:Splign:2.1.0"
     exon            822..983
                     /gene="DES"
                     /gene_synonym="CDCD3; CSM1; CSM2; LGMD1D; LGMD1E; LGMD2R"
                     /inference="alignment:Splign:2.1.0"
     exon            984..1109
                     /gene="DES"
                     /gene_synonym="CDCD3; CSM1; CSM2; LGMD1D; LGMD1E; LGMD2R"
                     /inference="alignment:Splign:2.1.0"
     exon            1110..1330
                     /gene="DES"
                     /gene_synonym="CDCD3; CSM1; CSM2; LGMD1D; LGMD1E; LGMD2R"
                     /inference="alignment:Splign:2.1.0"
     exon            1331..1374
                     /gene="DES"
                     /gene_synonym="CDCD3; CSM1; CSM2; LGMD1D; LGMD1E; LGMD2R"
                     /inference="alignment:Splign:2.1.0"
     exon            1375..1457
                     /gene="DES"
                     /gene_synonym="CDCD3; CSM1; CSM2; LGMD1D; LGMD1E; LGMD2R"
                     /inference="alignment:Splign:2.1.0"
     exon            1458..2243
                     /gene="DES"
                     /gene_synonym="CDCD3; CSM1; CSM2; LGMD1D; LGMD1E; LGMD2R"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2223..2228
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DES"
                     /gene_synonym="CDCD3; CSM1; CSM2; LGMD1D; LGMD1E; LGMD2R"
                     /note="hexamer: AATAAA"
     polyA_site      2243
                     /gene="DES"
                     /gene_synonym="CDCD3; CSM1; CSM2; LGMD1D; LGMD1E; LGMD2R"
                     /note="major polyA site"
ORIGIN      
        1 gtctcccctc gccgcatcca ctctccggcc ggccgcctgc ccgccgcctc ctccgtgcgc
       61 ccgccagcct cgcccgcgcc gtcaccatga gccaggccta ctcgtccagc cagcgcgtgt
      121 cctcctaccg ccgcaccttc ggcggggccc cgggcttccc actcggctcc ccgctgagtt
      181 cgcccgtgtt cccgcgggcg ggtttcggct ctaagggctc ctccagctcg gtgacgtccc
      241 gcgtgtacca ggtgtcgcgc acgtcgggcg gggccggggg cctggggtcg ctgcgggcca
      301 gccggctggg gaccacccgc acgccctcct cctacggcgc aggcgagctg ctggacttct
      361 cactggccga cgcggtgaac caggagtttc tgaccacgcg caccaacgag aaggtggagc
      421 tgcaggagct caatgaccgc ttcgccaact acatcgagaa ggtgcgcttc ctggagcagc
      481 agaacgcggc gctcgccgcc gaagtgaacc ggctcaaggg ccgcgagccg acgcgagtgg
      541 ccgagctcta cgaggaggag ctgcgggagc tgcggcgcca ggtggaggtg ctcactaacc
      601 agcgcgcgcg cgtcgacgtc gagcgcgaca acctgctcga cgacctgcag cggctcaagg
      661 ccaagctgca ggaggagatt cagttgaagg aagaagcaga gaacaatttg gctgccttcc
      721 gagcggacgt ggatgcagct actctagctc gcattgacct ggagcgcaga attgaatctc
      781 tcaacgagga gatcgcgttc cttaagaaag tgcatgaaga ggagatccgt gagttgcagg
      841 ctcagcttca ggaacagcag gtccaggtgg agatggacat gtctaagcca gacctcactg
      901 ccgccctcag ggacatccgg gctcagtatg agaccatcgc ggctaagaac atttctgaag
      961 ctgaggagtg gtacaagtcg aaggtgtcag acctgaccca ggcagccaac aagaacaacg
     1021 acgccctgcg ccaggccaag caggagatga tggaataccg acaccagatc cagtcctaca
     1081 cctgcgagat tgacgccctg aagggcacta acgattccct gatgaggcag atgcgggaat
     1141 tggaggaccg atttgccagt gaggccagtg gctaccagga caacattgcg cgcctggagg
     1201 aggaaatccg gcacctcaag gatgagatgg cccgccatct gcgcgagtac caggacctgc
     1261 tcaacgtgaa gatggccctg gatgtggaga ttgccaccta ccggaagctg ctggagggag
     1321 aggagagccg gatcaatctc cccatccaga cctactctgc cctcaacttc cgagaaacca
     1381 gccctgagca aaggggttct gaggtccata ccaagaagac ggtgatgatc aagaccatcg
     1441 agacacggga tggggaggtc gtcagtgagg ccacacagca gcagcatgaa gtgctctaaa
     1501 gacagagacc ctctgccacc agagaccgtc ctcacccctg tcctcactgc tccctgaagc
     1561 cagccttctt ccatcccagg acaccacacc cagcctcagt cctcccctca cagcctctga
     1621 cccctcctca ctggccatcc ctcgtggtcc ccaacagcga catagcccat ccctgcctgg
     1681 tcacagggca tgccccggcc acctctgcgg accccagctg tgagccttgg ctgttggcag
     1741 tgagtgagcc tggctcttgt gctggatgga gcccaggcgg gagcggtggc cctgtccctc
     1801 ccacctctgt gacctcaggc actagccttt ggctctggag acagccccag agcagggtgt
     1861 tgggatactg cagggccagg actgagcccc gcagacctcc ccagccccta gcccaggaga
     1921 gagaaagcca ggcaggtagc cagggggact agcccctgtg gagactgggg ggcttgaaat
     1981 tgtccccgtg gtctcttact ttcctttccc cagcccaggg tggacttaga aagcaggggc
     2041 tacaagaggg aatccccgaa ggtgctggag gtgggagcag gagattgaga aggagagaaa
     2101 gtgggtgaga tgctggagaa gagaggagag gagagaggca gagagcggtc tcaggctggt
     2161 gggaggggcg cccacctccc cacgccctcc cctcccctgc tgcaggggct ctggagagaa
     2221 acaataaaga gattcacaca caa
//
