LOCUS       NM_006790               2268 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens myotilin (MYOT), transcript variant 1, mRNA.
ACCESSION   NM_006790
VERSION     NM_006790.3
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 2268)
  AUTHORS   Guglielmi,V., Pancheri,E., Cannone,E., Nigro,V., Malatesta,M.,
            Vettori,A., Giorgetti,A., Torella,A., Aurino,S., Cisterna,B.,
            Marchetto,G., Tomelleri,G., Tonin,P., Schiavone,M. and Vattemi,G.
  TITLE     A novel in-frame deletion in MYOT causes an early adult onset
            distal myopathy
  JOURNAL   Clin Genet 104 (6), 705-710 (2023)
   PUBMED   37553249
  REMARK    GeneRIF: A novel in-frame deletion in MYOT causes an early adult
            onset distal myopathy.
REFERENCE   2  (bases 1 to 2268)
  AUTHORS   Cannone,E., Guglielmi,V., Marchetto,G., Tobia,C., Gnutti,B.,
            Cisterna,B., Tonin,P., Barbon,A., Vattemi,G. and Schiavone,M.
  TITLE     Human Mutated MYOT and CRYAB Genes Cause a Myopathic Phenotype in
            Zebrafish
  JOURNAL   Int J Mol Sci 24 (14), 11483 (2023)
   PUBMED   37511242
  REMARK    GeneRIF: Human Mutated MYOT and CRYAB Genes Cause a Myopathic
            Phenotype in Zebrafish.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2268)
  AUTHORS   Lin,Z.J., Xu,J.M., Ji,H.Y., Jiang,Y.Q., Su,J., Fan,L.L. and Yu,R.
  TITLE     Silencing MYOT Expression May Inhibit Autophagy in Human Skeletal
            Muscle Cells
  JOURNAL   Dis Markers 2023, 3350685 (2023)
   PUBMED   36776921
  REMARK    GeneRIF: Silencing MYOT Expression May Inhibit Autophagy in Human
            Skeletal Muscle Cells.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2268)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 2268)
  AUTHORS   Salmikangas,P., Mykkanen,O.M., Gronholm,M., Heiska,L., Kere,J. and
            Carpen,O.
  TITLE     Myotilin, a novel sarcomeric protein with two Ig-like domains, is
            encoded by a candidate gene for limb-girdle muscular dystrophy
  JOURNAL   Hum Mol Genet 8 (7), 1329-1336 (1999)
   PUBMED   10369880
REFERENCE   6  (bases 1 to 2268)
  AUTHORS   Bartoloni,L., Horrigan,S.K., Viles,K.D., Gilchrist,J.M.,
            Stajich,J.M., Vance,J.M., Yamaoka,L.H., Pericak-Vance,M.A.,
            Westbrook,C.A. and Speer,M.C.
  TITLE     Use of a CEPH meiotic breakpoint panel to refine the locus of
            limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval
            on 5q31
  JOURNAL   Genomics 54 (2), 250-255 (1998)
   PUBMED   9828127
REFERENCE   7  (bases 1 to 2268)
  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   8  (bases 1 to 2268)
  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   9  (bases 1 to 2268)
  AUTHORS   Speer,M.C., Yamaoka,L.H., Gilchrist,J.H., Gaskell,C.P.,
            Stajich,J.M., Vance,J.M., Kazantsev,A., Lastra,A.A., Haynes,C.S.,
            Beckmann,J.S. et al.
  TITLE     Confirmation of genetic heterogeneity in limb-girdle muscular
            dystrophy: linkage of an autosomal dominant form to chromosome 5q
  JOURNAL   Am J Hum Genet 50 (6), 1211-1217 (1992)
   PUBMED   1598902
REFERENCE   10 (bases 1 to 2268)
  AUTHORS   Dixon,M.J., Read,A.P., Donnai,D., Colley,A., Dixon,J. and
            Williamson,R.
  TITLE     The gene for Treacher Collins syndrome maps to the long arm of
            chromosome 5
  JOURNAL   Am J Hum Genet 49 (1), 17-22 (1991)
   PUBMED   1676560
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA896167.1, AF133820.2 and
            BC005376.1.
            
            On Aug 31, 2019 this sequence version replaced NM_006790.2.
            
            Summary: This gene encodes a cystoskeletal protein which plays a
            significant role in the stability of thin filaments during muscle
            contraction. This protein binds F-actin, crosslinks actin
            filaments, and prevents latrunculin A-induced filament disassembly.
            Mutations in this gene have been associated with limb-girdle
            muscular dystrophy and myofibrillar myopathies. Several
            alternatively spliced transcript variants of this gene have been
            described, but the full-length nature of some of these variants has
            not been determined.[provided by RefSeq, Oct 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            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 :: AF133820.2, BC005376.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2151741, SAMEA2154361
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000239926.9/ ENSP00000239926.4
            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
            1-11                DA896167.1         5-15
            12-1899             AF133820.2         1-1888
            1900-2259           BC005376.1         1884-2243
            2260-2268           AF133820.2         2249-2257
FEATURES             Location/Qualifiers
     source          1..2268
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.2"
     gene            1..2268
                     /gene="MYOT"
                     /gene_synonym="LGMD1; LGMD1A; MFM3; TTID; TTOD"
                     /note="myotilin"
                     /db_xref="GeneID:9499"
                     /db_xref="HGNC:HGNC:12399"
                     /db_xref="MIM:604103"
     exon            1..94
                     /gene="MYOT"
                     /gene_synonym="LGMD1; LGMD1A; MFM3; TTID; TTOD"
                     /inference="alignment:Splign:2.1.0"
     exon            95..661
                     /gene="MYOT"
                     /gene_synonym="LGMD1; LGMD1A; MFM3; TTID; TTOD"
                     /inference="alignment:Splign:2.1.0"
     CDS             306..1802
                     /gene="MYOT"
                     /gene_synonym="LGMD1; LGMD1A; MFM3; TTID; TTOD"
                     /note="isoform a is encoded by transcript variant 1; titin
                     immunoglobulin domain protein (myotilin); 57 kDa
                     cytoskeletal protein; myofibrillar titin-like Ig domains
                     protein"
                     /codon_start=1
                     /product="myotilin isoform a"
                     /protein_id="NP_006781.1"
                     /db_xref="CCDS:CCDS4194.1"
                     /db_xref="GeneID:9499"
                     /db_xref="HGNC:HGNC:12399"
                     /db_xref="MIM:604103"
                     /translation="MFNYERPKHFIQSQNPCGSRLQPPGPETSSFSSQTKQSSIIIQP
                     RQCTEQRFSASSTLSSHITMSSSAFPASPQQHAGSNPGQRVTTTYNQSPASFLSSILP
                     SQPDYNSSKIPSAMDSNYQQSSAGQPINAKPSQTANAKPIPRTPDHEIQGSKEALIQD
                     LERKLKCKDTLLHNGNQRLTYEEKMARRLLGPQNAAAVFQAQDDSGAQDSQQHNSEHA
                     RLQVPTSQVRSRSTSRGDVNDQDAIQEKFYPPRFIQVPENMSIDEGRFCRMDFKVSGL
                     PAPDVSWYLNGRTVQSDDLHKMIVSEKGLHSLIFEVVRASDAGAYACVAKNRAGEATF
                     TVQLDVLAKEHKRAPMFIYKPQSKKVLEGDSVKLECQISAIPPPKLFWKRNNEMVQFN
                     TDRISLYQDNTGRVTLLIKDVNKKDAGWYTVSAVNEAGVTTCNTRLDVTARPNQTLPA
                     PKQLRVRPTFSKYLALNGKGLNVKQAFNPEGEFQRLAAQSGLYESEEL"
     exon            662..836
                     /gene="MYOT"
                     /gene_synonym="LGMD1; LGMD1A; MFM3; TTID; TTOD"
                     /inference="alignment:Splign:2.1.0"
     exon            837..938
                     /gene="MYOT"
                     /gene_synonym="LGMD1; LGMD1A; MFM3; TTID; TTOD"
                     /inference="alignment:Splign:2.1.0"
     exon            939..988
                     /gene="MYOT"
                     /gene_synonym="LGMD1; LGMD1A; MFM3; TTID; TTOD"
                     /inference="alignment:Splign:2.1.0"
     exon            989..1121
                     /gene="MYOT"
                     /gene_synonym="LGMD1; LGMD1A; MFM3; TTID; TTOD"
                     /inference="alignment:Splign:2.1.0"
     exon            1122..1329
                     /gene="MYOT"
                     /gene_synonym="LGMD1; LGMD1A; MFM3; TTID; TTOD"
                     /inference="alignment:Splign:2.1.0"
     exon            1330..1495
                     /gene="MYOT"
                     /gene_synonym="LGMD1; LGMD1A; MFM3; TTID; TTOD"
                     /inference="alignment:Splign:2.1.0"
     exon            1496..1629
                     /gene="MYOT"
                     /gene_synonym="LGMD1; LGMD1A; MFM3; TTID; TTOD"
                     /inference="alignment:Splign:2.1.0"
     exon            1630..2268
                     /gene="MYOT"
                     /gene_synonym="LGMD1; LGMD1A; MFM3; TTID; TTOD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2243..2248
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MYOT"
                     /gene_synonym="LGMD1; LGMD1A; MFM3; TTID; TTOD"
                     /note="hexamer: AATAAA"
     polyA_site      2268
                     /gene="MYOT"
                     /gene_synonym="LGMD1; LGMD1A; MFM3; TTID; TTOD"
                     /note="major polyA site"
ORIGIN      
        1 acagagccac tagattagtc tgtgagggaa ggagatgcct cttccttccc ttcaatagtg
       61 ggttaaaccc agctggcacc ctctggaact acgggaacaa tattcttcaa gagaaggtca
      121 ctctaccaaa gccaggagca cagtattctc aggatctcaa caaggaagag cagaccaagg
      181 ttgcttctga ttccttacaa ccttccgtaa ttccaggctt gtggccccaa attcagggcc
      241 ccacccttcc aggaacaaat cattatagta ataatttgcc ttcatcttcc atataccaac
      301 taagcatgtt taactacgaa cgtccaaaac acttcatcca gtcccaaaac ccatgtggct
      361 ccagattgca gcctcctgga ccagaaacct ccagcttctc tagccagacc aaacagtctt
      421 ccattatcat ccagccccgc cagtgtacag agcaaagatt ttctgcctcc tcaacactga
      481 gctctcacat caccatgtcc tcctctgctt tccctgcttc tccccagcag catgctggct
      541 ccaacccagg ccaaagggtt acaaccacct ataaccagtc cccagccagc ttcctcagct
      601 ccatattacc atcacagcct gattacaata gcagtaaaat cccttccgct atggattcca
      661 actatcaaca gtcctcagct ggccaaccta taaatgcaaa gccatcccaa actgcaaatg
      721 ctaagcccat accaagaact cctgatcatg aaatacaagg atcaaaagaa gctttgattc
      781 aagatttgga aagaaagctg aaatgcaagg acacccttct tcataatgga aatcaacgtc
      841 taacatatga agagaagatg gctcgcagat tgctaggacc acagaatgca gctgctgtgt
      901 ttcaagctca ggatgacagt ggtgcacaag actcgcagca acacaactca gaacatgcgc
      961 gactgcaagt tcctacatca caagtaagaa gtagatcaac ctcaagggga gatgtgaatg
     1021 atcaggatgc aatccaggag aaattttacc caccacgttt cattcaagtg ccagagaaca
     1081 tgtcgattga tgaaggaaga ttctgcagaa tggacttcaa agtgagtgga ctgccagctc
     1141 ctgatgtgtc atggtatcta aatggaagaa cagttcaatc agatgatttg cacaaaatga
     1201 tagtgtctga gaagggtctt cattcactca tctttgaagt agtcagagct tcagatgcag
     1261 gggcttatgc atgtgttgcc aagaatagag caggagaagc caccttcact gtgcagctgg
     1321 atgtccttgc aaaagaacat aaaagagcac caatgtttat ctacaaacca cagagcaaaa
     1381 aagttttaga gggagattca gtgaaactag aatgccagat ctcggctata cctccaccaa
     1441 agcttttctg gaaaagaaat aatgaaatgg tacaattcaa cactgaccga ataagcttat
     1501 atcaagataa cactggaaga gttactttac tgataaaaga tgtaaacaag aaagatgctg
     1561 ggtggtatac tgtgtcagca gttaatgaag ctggagtgac tacatgtaac acaagattag
     1621 acgttacggc acgtccaaac caaactcttc cagctcctaa gcagttacgg gttcgaccaa
     1681 cattcagcaa atatttagca cttaatggga aaggtttgaa tgtaaaacaa gcttttaacc
     1741 cagaaggaga atttcagcgt ttggcagctc aatctggact ctatgaaagt gaagaacttt
     1801 aataacttta ccaacattgg aaaacagcca actacaccat tagtaatata tttgattaca
     1861 tttttttgaa attaatccat agctgtatta acagattatg gttttaatta ggtaatatag
     1921 ttaatatata tttataatat tatttatcct ttgactcttg cacattctat gtacccctcc
     1981 gatttgtgaa gcctacagga aatctgggta tatggatttg taactgcaga agactatctt
     2041 aaaatacagg attttaacat ttaagtcatg cacatttaac aattacaggt tataaattag
     2101 tatcaacttt ttaaacacat ctaatgcttg taataacgtt tactggtact gctttctaaa
     2161 tactgtttta cccgttttct cttgtaggaa tactaacatg gtatagatta tctgagtgtt
     2221 ccacagttgt atgtcaaaag aaaataaaat tcaaatattt aaaacgga
//
