LOCUS       NP_001028793             496 aa            linear   ROD 27-APR-2025
DEFINITION  myotilin [Mus musculus].
ACCESSION   NP_001028793 NP_067459 XP_899274 XP_906449 XP_919012 XP_928070
VERSION     NP_001028793.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 496)
  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  (residues 1 to 496)
  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  (residues 1 to 496)
  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  (residues 1 to 496)
  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  (residues 1 to 496)
  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  (residues 1 to 496)
  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  (residues 1 to 496)
  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  (residues 1 to 496)
  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  (residues 1 to 496)
  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 (residues 1 to 496)
  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 or before May 12, 2006 this sequence version replaced
            NP_067459.1, XP_899274.1, XP_906449.1, XP_919012.1, XP_928070.1.
            
            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##
FEATURES             Location/Qualifiers
     source          1..496
                     /organism="Mus musculus"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="18"
                     /map="18 23.74 cM"
     Protein         1..496
                     /product="myotilin"
                     /note="titin immunoglobulin domain protein; myofibrillar
                     titin-like Ig domains protein"
                     /calculated_mol_wt=55185
     Region          1..37
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9JIF9.1)"
     Site            20
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q9JIF9.1)"
     Region          78..149
                     /region_name="Necessary for interaction with ACTN1.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9JIF9.1)"
     Region          202..239
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9JIF9.1)"
     Region          213..496
                     /region_name="Necessary for interaction with ACTA1.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9JIF9.1)"
     Region          213..491
                     /region_name="Necessary for interaction with FLNC.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9JIF9.1)"
     Region          248..338
                     /region_name="Ig"
                     /note="Immunoglobulin domain; cl11960"
                     /db_xref="CDD:472250"
     Region          265..269
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409353"
     Region          278..282
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409353"
     Region          304..308
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409353"
     Region          318..323
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409353"
     Region          331..334
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409353"
     Region          347..438
                     /region_name="IgI_Myotilin_C"
                     /note="C-terminal immunoglobulin (Ig)-like domain of
                     myotilin; member of the I-set of Ig superfamily (IgSF)
                     domains; cd05892"
                     /db_xref="CDD:409473"
     Region          347..350
                     /region_name="Ig strand A"
                     /note="Ig strand A [structural motif]"
                     /db_xref="CDD:409473"
     Region          353..358
                     /region_name="Ig strand A'"
                     /note="Ig strand A' [structural motif]"
                     /db_xref="CDD:409473"
     Region          363..370
                     /region_name="Ig strand B"
                     /note="Ig strand B [structural motif]"
                     /db_xref="CDD:409473"
     Region          377..383
                     /region_name="Ig strand C"
                     /note="Ig strand C [structural motif]"
                     /db_xref="CDD:409473"
     Region          384..387
                     /region_name="Ig strand C'"
                     /note="Ig strand C' [structural motif]"
                     /db_xref="CDD:409473"
     Region          394..400
                     /region_name="Ig strand D"
                     /note="Ig strand D [structural motif]"
                     /db_xref="CDD:409473"
     Region          403..413
                     /region_name="Ig strand E"
                     /note="Ig strand E [structural motif]"
                     /db_xref="CDD:409473"
     Region          417..425
                     /region_name="Ig strand F"
                     /note="Ig strand F [structural motif]"
                     /db_xref="CDD:409473"
     Region          427..438
                     /region_name="Ig strand G"
                     /note="Ig strand G [structural motif]"
                     /db_xref="CDD:409473"
     CDS             1..496
                     /gene="Myot"
                     /gene_synonym="5530402I04Rik; Ttid"
                     /coded_by="NM_001033621.4:275..1765"
                     /db_xref="CCDS:CCDS29228.1"
                     /db_xref="GeneID:58916"
                     /db_xref="MGI:MGI:1889800"
ORIGIN      
        1 mfnyerpkhf iqpqnpcgsr lqppgpevsg fpsqtkqssi viqprqcteq rfsasstvss
       61 hitvsssayp apqqlagpnp gqkvtatynq spasflssil psqpdycnsk ipstvdsnyq
      121 qssvnqpvna mssqaanarp tpktpdheiq gskealiqdl erklkckdtl lhngnqrlty
      181 eekmarrllg pqnaaavfqa qnsdvqdspq hnpeqarlhv ptsqvrsrss sraeandqda
      241 iqekfypprf iqvpenmsie egrfcrmdfk vsglpapdvs wylngrpvqs delhkmivse
      301 kgfhslifev vrasdagpya cvarnragea tftvqldvla kehkrapmfi fkpqskkvfe
      361 getvklecqi saipppklfw krnnemvqfn tdrislyhdn agrvtllikd vnkkdagwyt
      421 vsavneagvt tcntrldvta rpiqtlpapk qlrvrptfsk ylalngrgld vkqafnpege
      481 fqrlaaqsgl yeseel
//
