LOCUS       NM_001164190            3488 bp    mRNA    linear   ROD 11-OCT-2023
DEFINITION  Mus musculus X-linked myotubular myopathy gene 1 (Mtm1), transcript
            variant 1, mRNA.
ACCESSION   NM_001164190
VERSION     NM_001164190.1
KEYWORDS    RefSeq.
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 3488)
  AUTHORS   Perdreau-Dahl H, Lipsett DB, Frisk M, Kermani F, Carlson CR, Brech
            A, Shen X, Bergan-Dahl A, Hou Y, Tuomainen T, Tavi P, Jones PP,
            Lunde M, Wasserstrom JA, Laporte J, Ullrich ND, Christensen G,
            Morth JP and Louch WE.
  TITLE     BIN1, Myotubularin, and Dynamin-2 Coordinate T-Tubule Growth in
            Cardiomyocytes
  JOURNAL   Circ Res 132 (11), e188-e205 (2023)
   PUBMED   37139790
  REMARK    GeneRIF: BIN1, Myotubularin, and Dynamin-2 Coordinate T-Tubule
            Growth in Cardiomyocytes.
REFERENCE   2  (bases 1 to 3488)
  AUTHORS   Massana-Munoz X, Goret M, Nattarayan V, Reiss D, Kretz C, Chicanne
            G, Payrastre B, Vanhaesebroeck B and Laporte J.
  TITLE     Inactivating the lipid kinase activity of PI3KC2beta is sufficient
            to rescue myotubular myopathy in mice
  JOURNAL   JCI Insight 8 (9), e151933 (2023)
   PUBMED   36943412
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3488)
  AUTHORS   Szentesi P, Dienes B, Kutchukian C, Czirjak T, Buj-Bello A,
            Jacquemond V and Csernoch L.
  TITLE     Disrupted T-tubular network accounts for asynchronous calcium
            release in MTM1-deficient skeletal muscle
  JOURNAL   J Physiol 601 (1), 99-121 (2023)
   PUBMED   36408764
  REMARK    GeneRIF: Disrupted T-tubular network accounts for asynchronous
            calcium release in MTM1-deficient skeletal muscle.
REFERENCE   4  (bases 1 to 3488)
  AUTHORS   Gomez-Oca R, Edelweiss E, Djeddi S, Gerbier M, Massana-Munoz X,
            Oulad-Abdelghani M, Crucifix C, Spiegelhalter C, Messaddeq N,
            Poussin-Courmontagne P, Koebel P, Cowling BS and Laporte J.
  TITLE     Differential impact of ubiquitous and muscle dynamin 2 isoforms in
            muscle physiology and centronuclear myopathy
  JOURNAL   Nat Commun 13 (1), 6849 (2022)
   PUBMED   36369230
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3488)
  AUTHORS   Sarikaya E, Sabha N, Volpatti J, Pannia E, Maani N, Gonorazky HD,
            Celik A, Liang Y, Onofre-Oliveira P and Dowling JJ.
  TITLE     Natural history of a mouse model of X-linked myotubular myopathy
  JOURNAL   Dis Model Mech 15 (7) (2022)
   PUBMED   35694952
REFERENCE   6  (bases 1 to 3488)
  AUTHORS   Chaussade C, Pirola L, Bonnafous S, Blondeau F, Brenz-Verca S,
            Tronchere H, Portis F, Rusconi S, Payrastre B, Laporte J and Van
            Obberghen E.
  TITLE     Expression of myotubularin by an adenoviral vector demonstrates its
            function as a phosphatidylinositol 3-phosphate [PtdIns(3)P]
            phosphatase in muscle cell lines: involvement of PtdIns(3)P in
            insulin-stimulated glucose transport
  JOURNAL   Mol Endocrinol 17 (12), 2448-2460 (2003)
   PUBMED   14500759
REFERENCE   7  (bases 1 to 3488)
  AUTHORS   Jungbluth H, Sewry CA, Buj-Bello A, Kristiansen M, Orstavik KH,
            Kelsey A, Manzur AY, Mercuri E, Wallgren-Pettersson C and Muntoni
            F.
  TITLE     Early and severe presentation of X-linked myotubular myopathy in a
            girl with skewed X-inactivation
  JOURNAL   Neuromuscul Disord 13 (1), 55-59 (2003)
   PUBMED   12467733
  REMARK    GeneRIF: The investigation of the MTM1 gene and X-inactivation
            studies are indicated in isolated females with histopathological
            and clinical findings suggestive of myotubular myopathy.
REFERENCE   8  (bases 1 to 3488)
  AUTHORS   Buj-Bello A, Laugel V, Messaddeq N, Zahreddine H, Laporte J,
            Pellissier JF and Mandel JL.
  TITLE     The lipid phosphatase myotubularin is essential for skeletal muscle
            maintenance but not for myogenesis in mice
  JOURNAL   Proc Natl Acad Sci U S A 99 (23), 15060-15065 (2002)
   PUBMED   12391329
  REMARK    GeneRIF: essential for skeletal muscle maintenance but not for
            myogenesis
REFERENCE   9  (bases 1 to 3488)
  AUTHORS   Laporte J, Blondeau F, Gansmuller A, Lutz Y, Vonesch JL and Mandel
            JL.
  TITLE     The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that
            also localizes to Rac1-inducible plasma membrane ruffles
  JOURNAL   J Cell Sci 115 (Pt 15), 3105-3117 (2002)
   PUBMED   12118066
REFERENCE   10 (bases 1 to 3488)
  AUTHORS   Laporte J, Blondeau F, Buj-Bello A, Tentler D, Kretz C, Dahl N and
            Mandel JL.
  TITLE     Characterization of the myotubularin dual specificity phosphatase
            gene family from yeast to human
  JOURNAL   Hum Mol Genet 7 (11), 1703-1712 (1998)
   PUBMED   9736772
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK016445.1, BC090984.1 and AL772294.6.
            
            [WARNING] On Nov 29, 2023 this sequence was replaced by
            NM_001164190.2.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript 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 :: AK016445.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849384 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1862              AK016445.1         2-1863
            1863-3262           BC090984.1         1721-3120
            3263-3488           AL772294.6         15010-15235
FEATURES             Location/Qualifiers
     source          1..3488
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="X"
                     /map="X 36.55 cM"
     gene            1..3488
                     /gene="Mtm1"
                     /gene_synonym="mKIAA4176; Mtm"
                     /note="X-linked myotubular myopathy gene 1"
                     /db_xref="GeneID:17772"
                     /db_xref="MGI:MGI:1099452"
     exon            1..186
                     /gene="Mtm1"
                     /gene_synonym="mKIAA4176; Mtm"
                     /inference="alignment:Splign:2.1.0"
     exon            187..257
                     /gene="Mtm1"
                     /gene_synonym="mKIAA4176; Mtm"
                     /inference="alignment:Splign:2.1.0"
     CDS             195..2006
                     /gene="Mtm1"
                     /gene_synonym="mKIAA4176; Mtm"
                     /EC_number="3.1.3.64"
                     /EC_number="3.1.3.95"
                     /note="isoform 1 is encoded by transcript variant 1;
                     myotubularin; phosphatidylinositol-3-phosphate
                     phosphatase; phosphatidylinositol-3,5-bisphosphate
                     3-phosphatase"
                     /codon_start=1
                     /product="myotubularin isoform 1"
                     /protein_id="NP_001157662.1"
                     /db_xref="CCDS:CCDS30177.1"
                     /db_xref="GeneID:17772"
                     /db_xref="MGI:MGI:1099452"
                     /translation="MASASASKYNSHSLENESIKKVSQDGVSQDVSETVPRLPGELLI
                     TEKEVIYICPFNGPIKGRVYITNYRLYLRSLETDSALILDVPLGVISRIEKMGGATSR
                     GENSYGLDITCKDLRNLRFALKQEGHSRRDMFEILVKHAFPLAHNLPLFAFVNEEKFN
                     VDGWTVYNPVEEYRRQGLPNHHWRISFINKCYELCETYPALLVVPYRTSDDDLRRIAT
                     FRSRNRLPVLSWIHPENKMVIMRCSQPLVGMSGKRNKDDEKYLDVIRETNKQTSKLMI
                     YDARPSVNAVANKATGGGYESDDAYQNSELSFLDIHNIHVMRESLKKVKDIVYPNIEE
                     SHWLSSLESTHWLEHIKLVLTGAIQVADQVSSGKSSVLVHCSDGWDRTAQLTSLAMLM
                     LDSFYRTIEGFEILVQKEWISFGHKFASRIGHGDKNHADADRSPIFLQFIDCVWQMSK
                     QFPTAFEFNEGFLITVLDHLYSCRFGTFLFNCDSARERQKLTERTVSLWSLINSNKDK
                     FKNPFYTKEINRVLYPVASMRHLELWVNYYIRWNPRVKQQQPNPVEQRYMELLALRDD
                     YIKRLEELQLANSAKLADAPASTSSSSQMVPHVQTHF"
     exon            258..330
                     /gene="Mtm1"
                     /gene_synonym="mKIAA4176; Mtm"
                     /inference="alignment:Splign:2.1.0"
     exon            331..425
                     /gene="Mtm1"
                     /gene_synonym="mKIAA4176; Mtm"
                     /inference="alignment:Splign:2.1.0"
     exon            426..536
                     /gene="Mtm1"
                     /gene_synonym="mKIAA4176; Mtm"
                     /inference="alignment:Splign:2.1.0"
     exon            537..638
                     /gene="Mtm1"
                     /gene_synonym="mKIAA4176; Mtm"
                     /inference="alignment:Splign:2.1.0"
     exon            639..722
                     /gene="Mtm1"
                     /gene_synonym="mKIAA4176; Mtm"
                     /inference="alignment:Splign:2.1.0"
     exon            723..872
                     /gene="Mtm1"
                     /gene_synonym="mKIAA4176; Mtm"
                     /inference="alignment:Splign:2.1.0"
     exon            873..1061
                     /gene="Mtm1"
                     /gene_synonym="mKIAA4176; Mtm"
                     /inference="alignment:Splign:2.1.0"
     exon            1062..1247
                     /gene="Mtm1"
                     /gene_synonym="mKIAA4176; Mtm"
                     /inference="alignment:Splign:2.1.0"
     exon            1248..1454
                     /gene="Mtm1"
                     /gene_synonym="mKIAA4176; Mtm"
                     /inference="alignment:Splign:2.1.0"
     exon            1455..1547
                     /gene="Mtm1"
                     /gene_synonym="mKIAA4176; Mtm"
                     /inference="alignment:Splign:2.1.0"
     exon            1548..1661
                     /gene="Mtm1"
                     /gene_synonym="mKIAA4176; Mtm"
                     /inference="alignment:Splign:2.1.0"
     exon            1662..1838
                     /gene="Mtm1"
                     /gene_synonym="mKIAA4176; Mtm"
                     /inference="alignment:Splign:2.1.0"
     exon            1839..3488
                     /gene="Mtm1"
                     /gene_synonym="mKIAA4176; Mtm"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 attacttgct ttaaaccttc atttagcacc tgggaaaata gaacttactg gctggtcagg
       61 cctccgtaag gaggctccca cctcaactct gaattctgtg agaaaatgtg agagcagtat
      121 caagcagcag cagcagtatt ctcatctaca tgtgagccat acttgcaact ctccactgag
      181 cccatggttc caggatggct tctgcatcag catctaagta taattcacac tccttggaga
      241 atgaatccat taagaaagtg tctcaagatg gagtcagtca ggatgtgagt gagactgtcc
      301 ctcggctccc aggggagtta ctaattactg aaaaagaagt tatttacata tgtcctttca
      361 atggccccat taagggaaga gtttacatca caaattatcg tctttattta agaagtttgg
      421 aaacggattc tgctctaata cttgatgttc ctctgggtgt gatatcaaga attgaaaaaa
      481 tgggaggcgc gacaagtaga ggagaaaatt cctatggtct agatattact tgtaaagatt
      541 tgagaaacct gaggtttgca ttgaagcaag aaggccacag cagaagagat atgtttgaga
      601 tccttgtaaa acatgccttt cctctggcac acaatctgcc attatttgca tttgtaaatg
      661 aagagaagtt taacgtggat gggtggactg tttataatcc agttgaagaa tatagaaggc
      721 agggcctgcc caatcaccat tggaggataa gttttattaa caagtgctat gagctctgtg
      781 agacataccc tgctcttttg gtggttccct atcggacctc agatgatgat cttaggagga
      841 tcgcaacgtt tagatcccga aatcggcttc ctgtactgtc gtggattcac ccagaaaaca
      901 aaatggtcat tatgcgctgc agtcagcctc ttgtcggtat gagtggtaaa agaaataaag
      961 atgacgagaa atacctggat gtgatcaggg aaactaacaa acaaacttct aagctcatga
     1021 tttatgatgc acgacccagt gtaaatgcag tcgccaacaa ggcaacagga ggaggatatg
     1081 aaagtgatga cgcatatcaa aactcagaac tttccttctt agacattcat aatattcatg
     1141 ttatgcgaga atctttaaaa aaagtgaaag atattgttta tcccaacata gaagaatctc
     1201 attggttgtc cagtttggag tctactcatt ggttagaaca tatcaagctt gttctgaccg
     1261 gtgccattca agtggcagac caagtgtctt caggaaagag ctcggtactt gtgcactgca
     1321 gtgacggatg ggacaggacc gctcagctga catccttggc catgctgatg ttggacagct
     1381 tctacagaac tattgaaggc tttgagatat tggtacagaa agagtggata agttttggcc
     1441 ataaatttgc atctagaata ggtcatggtg ataaaaacca tgctgatgct gatcgatctc
     1501 ctatttttct tcagtttatt gactgtgtgt ggcagatgtc gaaacagttc cccacagctt
     1561 ttgagttcaa tgaaggcttt ttgattaccg ttttggatca tctgtatagc tgtcgatttg
     1621 gtactttctt attcaactgt gactcggctc gagaaagaca gaaacttaca gaaagaacag
     1681 tttctctatg gtcgctaatt aacagcaata aagacaaatt caaaaacccc ttctatacaa
     1741 aagaaatcaa tcgggttttg tatccagttg ccagcatgcg tcacttggaa ctgtgggtga
     1801 attattacat ccgatggaat cccagggtca agcagcaaca gcccaaccca gtggagcagc
     1861 gttacatgga gcttttggcc ttgcgtgacg attatataaa gaggctcgag gaattgcagc
     1921 tggccaactc cgccaagctt gctgatgccc ccgcttcgac ttccagttcg tcacagatgg
     1981 tgccccatgt gcagacgcac ttctgagggg actcacttct ggcactgcac ttgaactcta
     2041 gataagtgaa atagctgact ctcattctgg gcatgtggac aaagtagatt taaagtgtct
     2101 gcctccattt agaagttcaa ctaacatctt agacttttga gtatgtgcct tctgtaatac
     2161 atatcacaag aaatcgatgg tgtccgtgtg gcaatcataa ggaaggagtc aagagggggt
     2221 tctggaaaat cctcatactt ttttttacaa agcacttttg caaagataaa acttaaattt
     2281 aatttacctc tatataaatt ctacatatac agtatgtatt ttgtgggctt aattgaaata
     2341 ttattttaaa tccagggggg agatttgttt gcaaaatgta ttttcctcca gctgcttata
     2401 acagttgctt tggattatct aaaattaatc caaatgtgaa agatgggtat tactgccaaa
     2461 gccaaattgc actctgcttc ttcagcaaat tccaagagca aggcgtttaa ataattgcca
     2521 atttttattt taccataagt ggtaaggtaa aaagaaagat gaacatttca tcattttgaa
     2581 tttttgaaaa taaaaggttc tcccatcatt tttcaagaga agcacatttt tatattaaga
     2641 aaaagtgata aggtttgatt tttttttccc tcaacattct cagctttgct ttctaaatta
     2701 tcccatgatt tttgtctaac actgagtcat actcaggttg aaggaaaccc ataaatagca
     2761 ctgtgcgagg agctggctgg cttctgctgc ttagaggaat atgttcgcaa acatgcctct
     2821 agtcaattcg ccttatctgc tgaagtgtag gggcaccgcc ttgaatggat gagctatggc
     2881 tagagcatct ttctttacag taatgcccca ggtgtattct gtttatgtct ctctgtttaa
     2941 atggtgtgcg tgcataaaaa cttgctctgc acattattac ttgaagtact gggcaatttg
     3001 ctttttcagg ttttttttca ttttgttttg tagtatgaaa tggaatttta aatgcacagt
     3061 tctatttgat atccgaacta attcatttag taaatatatt tgtaaaagct aaagttaaat
     3121 caattaatgt tttacagtga tttgtaaagg attatttata gctaatatgg ttttgttttc
     3181 agtgaattaa gagagattac atttatcttt gtaaattatt ttatgtcata gcttaatggc
     3241 ctaccaaatg agacatctca aatataatag tataatgtat ggattttgta agtataaaaa
     3301 ttattagata ttcgtttgct ttttgtaaac actgtaaata tttcataaat taaaatgtgt
     3361 cactccataa gaagaaaaaa ctaatactaa tagttgacag gaattggtga aatttcatga
     3421 aaatattttc attgcaataa atattaaaag acctgctgta ataaatatat taactaaaac
     3481 ctaacagt
//
