LOCUS       NM_001033621            2213 bp    mRNA    linear   ROD 01-JUN-2024
DEFINITION  Mus musculus myotilin (Myot), mRNA.
ACCESSION   NM_001033621 NM_021484 XM_894181 XM_901356 XM_913919 XM_922977
VERSION     NM_001033621.4
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 2213)
  AUTHORS   Pathak,P., Blech-Hermoni,Y., Subedi,K., Mpamugo,J.,
            Obeng-Nyarko,C., Ohman,R., Molloy,I., Kates,M., Hale,J.,
            Stauffer,S., Sharan,S.K. and Mankodi,A.
  TITLE     Myopathy associated LDB3 mutation causes Z-disc disassembly and
            protein aggregation through PKCalpha and TSC2-mTOR downregulation
  JOURNAL   Commun Biol 4 (1), 355 (2021)
   PUBMED   33742095
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2213)
  AUTHORS   Chen,J.Q., Mori,H., Cardiff,R.D., Trott,J.F., Hovey,R.C.,
            Hubbard,N.E., Engelberg,J.A., Tepper,C.G., Willis,B.J., Khan,I.H.,
            Ravindran,R.K., Chan,S.R., Schreiber,R.D. and Borowsky,A.D.
  TITLE     Abnormal Mammary Development in 129:STAT1-Null Mice is
            Stroma-Dependent
  JOURNAL   PLoS One 10 (6), e0129895 (2015)
   PUBMED   26075897
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2213)
  AUTHORS   Zhou,H., Wan,B., Grubisic,I., Kaplan,T. and Tjian,R.
  TITLE     TAF7L modulates brown adipose tissue formation
  JOURNAL   Elife 3, e02811 (2014)
   PUBMED   24876128
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2213)
  AUTHORS   von Nandelstadh,P., Ismail,M., Gardin,C., Suila,H., Zara,I.,
            Belgrano,A., Valle,G., Carpen,O. and Faulkner,G.
  TITLE     A class III PDZ binding motif in the myotilin and FATZ families
            binds enigma family proteins: a common link for Z-disc myopathies
  JOURNAL   Mol Cell Biol 29 (3), 822-834 (2009)
   PUBMED   19047374
REFERENCE   5  (bases 1 to 2213)
  AUTHORS   Ochala,J., Carpen,O. and Larsson,L.
  TITLE     Maintenance of muscle mass, fiber size, and contractile function in
            mice lacking the Z-disc protein myotilin
  JOURNAL   Ups J Med Sci 114 (4), 235-241 (2009)
   PUBMED   19878039
  REMARK    GeneRIF: Myotilin does not have a significant influence on muscle
            mass, muscle fiber size, or regulation of muscle contraction.
            Alternatively, compensatory over-expressions of other elements may
            compensate for the lack of myotilin.
REFERENCE   6  (bases 1 to 2213)
  AUTHORS   Potthoff,M.J., Arnold,M.A., McAnally,J., Richardson,J.A.,
            Bassel-Duby,R. and Olson,E.N.
  TITLE     Regulation of skeletal muscle sarcomere integrity and postnatal
            muscle function by Mef2c
  JOURNAL   Mol Cell Biol 27 (23), 8143-8151 (2007)
   PUBMED   17875930
REFERENCE   7  (bases 1 to 2213)
  AUTHORS   Moza,M., Mologni,L., Trokovic,R., Faulkner,G., Partanen,J. and
            Carpen,O.
  TITLE     Targeted deletion of the muscular dystrophy gene myotilin does not
            perturb muscle structure or function in mice
  JOURNAL   Mol Cell Biol 27 (1), 244-252 (2007)
   PUBMED   17074808
  REMARK    GeneRIF: either myotilin does not participate in muscle development
            and basal function maintenance or other proteins serve as
            structural and functional compensatory molecules when myotilin is
            absent
REFERENCE   8  (bases 1 to 2213)
  AUTHORS   Mologni,L., Moza,M., Lalowski,M.M. and Carpen,O.
  TITLE     Characterization of mouse myotilin and its promoter
  JOURNAL   Biochem Biophys Res Commun 329 (3), 1001-1009 (2005)
   PUBMED   15752755
  REMARK    GeneRIF: features suggest an important role for myotilin in
            sarcomere organization.
REFERENCE   9  (bases 1 to 2213)
  AUTHORS   Mologni,L., Salmikangas,P., Fougerousse,F., Beckmann,J.S. and
            Carpen,O.
  TITLE     Developmental expression of myotilin, a gene mutated in limb-girdle
            muscular dystrophy type 1A
  JOURNAL   Mech Dev 103 (1-2), 121-125 (2001)
   PUBMED   11335118
REFERENCE   10 (bases 1 to 2213)
  AUTHORS   Hauser,M.A., Horrigan,S.K., Salmikangas,P., Torian,U.M.,
            Viles,K.D., Dancel,R., Tim,R.W., Taivainen,A., Bartoloni,L.,
            Gilchrist,J.M., Stajich,J.M., Gaskell,P.C., Gilbert,J.R.,
            Vance,J.M., Pericak-Vance,M.A., Carpen,O., Westbrook,C.A. and
            Speer,M.C.
  TITLE     Myotilin is mutated in limb girdle muscular dystrophy 1A
  JOURNAL   Hum Mol Genet 9 (14), 2141-2147 (2000)
   PUBMED   10958653
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC132130.3.
            
            On Jul 18, 2018 this sequence version replaced NM_001033621.3.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: BC064052.1, AK017447.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849375, SAMN00849381
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-83                AC132130.3         32660-32742         c
            84-627              AC132130.3         29506-30049         c
            628-802             AC132130.3         25339-25513         c
            803-904             AC132130.3         24373-24474         c
            905-951             AC132130.3         22328-22374         c
            952-1084            AC132130.3         21672-21804         c
            1085-1292           AC132130.3         20601-20808         c
            1293-1458           AC132130.3         12535-12700         c
            1459-1592           AC132130.3         11881-12014         c
            1593-2213           AC132130.3         11088-11708         c
FEATURES             Location/Qualifiers
     source          1..2213
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="18"
                     /map="18 23.74 cM"
     gene            1..2213
                     /gene="Myot"
                     /gene_synonym="5530402I04Rik; Ttid"
                     /note="myotilin"
                     /db_xref="GeneID:58916"
                     /db_xref="MGI:MGI:1889800"
     exon            1..83
                     /gene="Myot"
                     /gene_synonym="5530402I04Rik; Ttid"
                     /inference="alignment:Splign:2.1.0"
     exon            84..627
                     /gene="Myot"
                     /gene_synonym="5530402I04Rik; Ttid"
                     /inference="alignment:Splign:2.1.0"
     CDS             275..1765
                     /gene="Myot"
                     /gene_synonym="5530402I04Rik; Ttid"
                     /note="titin immunoglobulin domain protein; myofibrillar
                     titin-like Ig domains protein"
                     /codon_start=1
                     /product="myotilin"
                     /protein_id="NP_001028793.1"
                     /db_xref="CCDS:CCDS29228.1"
                     /db_xref="GeneID:58916"
                     /db_xref="MGI:MGI:1889800"
                     /translation="MFNYERPKHFIQPQNPCGSRLQPPGPEVSGFPSQTKQSSIVIQP
                     RQCTEQRFSASSTVSSHITVSSSAYPAPQQLAGPNPGQKVTATYNQSPASFLSSILPS
                     QPDYCNSKIPSTVDSNYQQSSVNQPVNAMSSQAANARPTPKTPDHEIQGSKEALIQDL
                     ERKLKCKDTLLHNGNQRLTYEEKMARRLLGPQNAAAVFQAQNSDVQDSPQHNPEQARL
                     HVPTSQVRSRSSSRAEANDQDAIQEKFYPPRFIQVPENMSIEEGRFCRMDFKVSGLPA
                     PDVSWYLNGRPVQSDELHKMIVSEKGFHSLIFEVVRASDAGPYACVARNRAGEATFTV
                     QLDVLAKEHKRAPMFIFKPQSKKVFEGETVKLECQISAIPPPKLFWKRNNEMVQFNTD
                     RISLYHDNAGRVTLLIKDVNKKDAGWYTVSAVNEAGVTTCNTRLDVTARPIQTLPAPK
                     QLRVRPTFSKYLALNGRGLDVKQAFNPEGEFQRLAAQSGLYESEEL"
     exon            628..802
                     /gene="Myot"
                     /gene_synonym="5530402I04Rik; Ttid"
                     /inference="alignment:Splign:2.1.0"
     exon            803..904
                     /gene="Myot"
                     /gene_synonym="5530402I04Rik; Ttid"
                     /inference="alignment:Splign:2.1.0"
     exon            905..951
                     /gene="Myot"
                     /gene_synonym="5530402I04Rik; Ttid"
                     /inference="alignment:Splign:2.1.0"
     exon            952..1084
                     /gene="Myot"
                     /gene_synonym="5530402I04Rik; Ttid"
                     /inference="alignment:Splign:2.1.0"
     exon            1085..1292
                     /gene="Myot"
                     /gene_synonym="5530402I04Rik; Ttid"
                     /inference="alignment:Splign:2.1.0"
     exon            1293..1458
                     /gene="Myot"
                     /gene_synonym="5530402I04Rik; Ttid"
                     /inference="alignment:Splign:2.1.0"
     exon            1459..1592
                     /gene="Myot"
                     /gene_synonym="5530402I04Rik; Ttid"
                     /inference="alignment:Splign:2.1.0"
     exon            1593..2213
                     /gene="Myot"
                     /gene_synonym="5530402I04Rik; Ttid"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2189..2194
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Myot"
                     /gene_synonym="5530402I04Rik; Ttid"
                     /note="hexamer: AATAAA"
     polyA_site      2209
                     /gene="Myot"
                     /gene_synonym="5530402I04Rik; Ttid"
                     /note="major polyA site"
ORIGIN      
        1 agagccacgg gagcctgagc aaggaaatgc ttctcccttc tcttcagtag tgggttgaga
       61 cgctggcccc ctctgagcta aggaaacaat attcttcaag agaaacccac caacatcagg
      121 agtacagtgg tggtctagag atctcagcaa agagggccag actaaagttg cttctgactt
      181 gctgcaacct tctgtgtaat tccaggcttg ccaaccccac ggtcaggatt ctatccttct
      241 gtgagcaaat ctgtcttcca tataccagct aagcatgttt aactacgaac gtccaaaaca
      301 cttcatccag ccgcaaaatc cgtgtggctc cagactgcag cctccaggac cggaagtctc
      361 cggcttcccg agccagacca aacagtcttc catcgtcata cagcctcgcc agtgcacaga
      421 gcagagattt tctgcctcct ccacagtgag ctctcacatc accgtgtctt cctctgctta
      481 tcctgctccc cagcagcttg ctggccccaa ccccggccaa aaggttactg ctacctataa
      541 ccagtcccca gccagcttcc tcagttctat attaccgtct caacccgatt actgtaacag
      601 taaaatccca tccactgtgg actccaacta tcaacaatcc tcagttaacc aacctgtaaa
      661 tgccatgtca tcccaagctg caaatgctag gcccactcca aagactcctg accatgagat
      721 ccaaggatcg aaagaagcgt tgattcaaga tttggaaaga aagctgaaat gcaaagacac
      781 ccttcttcat aatggaaatc aaagactgac ctacgaggag aagatggctc gcaggttgtt
      841 aggaccgcag aatgctgctg ctgtgtttca ggcgcaaaac agtgatgtcc aagattcacc
      901 acagcataac ccagagcaag cacggctgca cgttcccaca tcacaagtaa gaagtagatc
      961 gtcctccaga gcagaggcca atgatcagga tgccatccag gagaagtttt acccaccacg
     1021 cttcattcaa gtgccagaaa acatgtcgat cgaagagggg aggttctgcc gaatggactt
     1081 taaagtaagt ggactgccag cccctgatgt gtcatggtat ctaaacggga gaccagtgca
     1141 atcagatgag ttgcacaaaa tgatagtgtc tgagaagggt ttccactccc tcatcttcga
     1201 agtggtcaga gcatcagatg cagggccata tgcatgcgtg gccaggaaca gagctggaga
     1261 agccaccttc acagtgcagc tggatgttct ggcaaaagag cataaaagag caccgatgtt
     1321 tatcttcaaa ccacagagta agaaagtttt tgagggagag accgtgaagc tggagtgcca
     1381 gatctcagct atccctccac caaagctgtt ctggaaaaga aacaatgaaa tggtccagtt
     1441 caacactgat cggataagct tatatcatga caacgccgga agagtaactt tactgataaa
     1501 agatgtaaac aagaaggacg ctgggtggta tacagtgtca gcagtcaatg aagctggtgt
     1561 gaccacgtgt aacacacgat tagatgtcac agcccgtcca atccaaactc tcccagctcc
     1621 taagcagctg cgtgttcgac caacattcag caaatattta gcgctcaatg ggagaggttt
     1681 ggatgtgaaa caagctttta accctgaagg agaatttcag cgcctggcag ctcaatccgg
     1741 actctacgaa agtgaagaac tttaataact ttgcccacag ggaaaacaca acttcgctac
     1801 aaccaatata tctgataaca ttgtgggaaa aaaaatccat ggctatatta acaaattgtg
     1861 actttactta ggtcgtttaa ctaactcaca tttagaatgt tatttagcct ctgactctgg
     1921 cacagcctgt attcctctga cttgtgaagc caacagtaaa ctaagtatat gagttcgtat
     1981 tgtaagagac tgttttaaga tgcagtgtct taacactgaa gtcctttaac aactgtgagt
     2041 tatgaaccag aaacttttga aacaccacta atgcttgcaa taagtttatg ggtattgctt
     2101 aacaaacatt catttacctg ttttctctta taggaatact aacatgatat agattatctg
     2161 agtgttccac aacttcccat caaaagagaa taaaaatttg aataactaag gca
//
