LOCUS       NM_001376908            3468 bp    mRNA    linear   PRI 13-OCT-2024
DEFINITION  Homo sapiens myotubularin 1 (MTM1), transcript variant 4, mRNA.
ACCESSION   NM_001376908 XM_011531173
VERSION     NM_001376908.1
KEYWORDS    RefSeq.
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 3468)
  AUTHORS   Perdreau-Dahl,H., Lipsett,D.B., Frisk,M., Kermani,F., Carlson,C.R.,
            Brech,A., Shen,X., Bergan-Dahl,A., Hou,Y., Tuomainen,T., Tavi,P.,
            Jones,P.P., Lunde,M., Wasserstrom,J.A., Laporte,J., Ullrich,N.D.,
            Christensen,G., Morth,J.P. and Louch,W.E.
  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 3468)
  AUTHORS   Xu,X., Guan,R., Gong,K., Xie,H. and Shi,L.
  TITLE     Circ_FURIN knockdown assuages Testosterone-induced human ovarian
            granulosa-like tumor cell disorders by sponging miR-423-5p to
            reduce MTM1 expression in polycystic ovary syndrome
  JOURNAL   Reprod Biol Endocrinol 20 (1), 32 (2022)
   PUBMED   35177076
  REMARK    GeneRIF: Circ_FURIN knockdown assuages Testosterone-induced human
            ovarian granulosa-like tumor cell disorders by sponging miR-423-5p
            to reduce MTM1 expression in polycystic ovary syndrome.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3468)
  AUTHORS   Kraatari,M., Tuominen,H., Tuupanen,S., Haapaniemi,T., Moilanen,J.
            and Rahikkala,E.
  TITLE     X-linked myotubular myopathy mimics hereditary spastic paraplegia
            in two female manifesting carriers of pathogenic MTM1 variant
  JOURNAL   Eur J Med Genet 63 (11), 104040 (2020)
   PUBMED   32805447
  REMARK    GeneRIF: X-linked myotubular myopathy mimics hereditary spastic
            paraplegia in two female manifesting carriers of pathogenic MTM1
            variant.
REFERENCE   4  (bases 1 to 3468)
  AUTHORS   Cocanougher,B.T., Flynn,L., Yun,P., Jain,M., Waite,M., Vasavada,R.,
            Wittenbach,J.D., de Chastonay,S., Chhibber,S., Innes,A.M.,
            MacLaren,L., Mozaffar,T., Arai,A.E., Donkervoort,S., Bonnemann,C.G.
            and Foley,A.R.
  TITLE     Adult MTM1-related myopathy carriers: Classification based on deep
            phenotyping
  JOURNAL   Neurology 93 (16), e1535-e1542 (2019)
   PUBMED   31541013
  REMARK    GeneRIF: MTM1 mutation is related to myopathy
REFERENCE   5  (bases 1 to 3468)
  AUTHORS   Nishikawa,A., Iida,A., Hayashi,S., Okubo,M., Oya,Y., Yamanaka,G.,
            Takahashi,I., Nonaka,I., Noguchi,S. and Nishino,I.
  TITLE     Three novel MTM1 pathogenic variants identified in Japanese
            patients with X-linked myotubular myopathy
  JOURNAL   Mol Genet Genomic Med 7 (5), e621 (2019)
   PUBMED   30884204
  REMARK    GeneRIF: Three novel mutations in the second cluster of PTP domain
            in MTM1 were identified in 3 patients with X-linked myotubular
            myopathy.
REFERENCE   6  (bases 1 to 3468)
  AUTHORS   Laporte,J., Guiraud-Chaumeil,C., Vincent,M.C., Mandel,J.L.,
            Tanner,S.M., Liechti-Gallati,S., Wallgren-Pettersson,C., Dahl,N.,
            Kress,W., Bolhuis,P.A., Fardeau,M., Samson,F. and Bertini,E.
  TITLE     Mutations in the MTM1 gene implicated in X-linked myotubular
            myopathy. ENMC International Consortium on Myotubular Myopathy.
            European Neuro-Muscular Center
  JOURNAL   Hum Mol Genet 6 (9), 1505-1511 (1997)
   PUBMED   9305655
REFERENCE   7  (bases 1 to 3468)
  AUTHORS   de Gouyon,B.M., Zhao,W., Laporte,J., Mandel,J.L., Metzenberg,A. and
            Herman,G.E.
  TITLE     Characterization of mutations in the myotubularin gene in twenty
            six patients with X-linked myotubular myopathy
  JOURNAL   Hum Mol Genet 6 (9), 1499-1504 (1997)
   PUBMED   9285787
REFERENCE   8  (bases 1 to 3468)
  AUTHORS   Laporte,J., Hu,L.J., Kretz,C., Mandel,J.L., Kioschis,P., Coy,J.F.,
            Klauck,S.M., Poustka,A. and Dahl,N.
  TITLE     A gene mutated in X-linked myotubular myopathy defines a new
            putative tyrosine phosphatase family conserved in yeast
  JOURNAL   Nat Genet 13 (2), 175-182 (1996)
   PUBMED   8640223
  REMARK    GeneRIF: Myotubularin loss-of-function mutations cause X-linked
            myotubular myopathy, a severe congenital myoopathy with
            predominance and hypotrophy of type I (slow) muscle fibers
REFERENCE   9  (bases 1 to 3468)
  AUTHORS   Dowling,J.J., Lawlor,M.W. and Das,S.
  TITLE     X-Linked Myotubular Myopathy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301605
REFERENCE   10 (bases 1 to 3468)
  AUTHORS   Liechti-Gallati,S., Muller,B., Grimm,T., Kress,W., Muller,C.,
            Boltshauser,E., Moser,H. and Braga,S.
  TITLE     X-linked centronuclear myopathy: mapping the gene to Xq28
  JOURNAL   Neuromuscul Disord 1 (4), 239-245 (1991)
   PUBMED   1822801
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC136957.1 and AF002223.2.
            
            On Nov 26, 2019 this sequence version replaced XM_011531173.2.
            
            Summary: This gene encodes a dual-specificity phosphatase that acts
            on both phosphotyrosine and phosphoserine. It is required for
            muscle cell differentiation and mutations in this gene have been
            identified as being responsible for X-linked myotubular myopathy.
            [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 :: SRR14038192.3412154.1,
                                           SRR18074967.1814840.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMEA2144335
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-98                AC136957.1         121263-121360
            99-171              AC136957.1         145247-145319
            172-244             AC136957.1         149140-149212
            245-339             AC136957.1         151234-151328
            340-450             AF002223.2         29167-29277
            451-552             AF002223.2         33616-33717
            553-636             AF002223.2         53521-53604
            637-786             AF002223.2         55847-55996
            787-975             AF002223.2         60261-60449
            976-1161            AF002223.2         64294-64479
            1162-1368           AF002223.2         72399-72605
            1369-1461           AF002223.2         74242-74334
            1462-1575           AF002223.2         74949-75062
            1576-1752           AF002223.2         78011-78187
            1753-3468           AF002223.2         86006-87721
FEATURES             Location/Qualifiers
     source          1..3468
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..3468
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /note="myotubularin 1"
                     /db_xref="GeneID:4534"
                     /db_xref="HGNC:HGNC:7448"
                     /db_xref="MIM:300415"
     exon            1..98
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /inference="alignment:Splign:2.1.0"
     exon            99..171
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /inference="alignment:Splign:2.1.0"
     CDS             109..1920
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /EC_number="3.1.3.95"
                     /note="isoform 1 is encoded by transcript variant 4;
                     phosphatidylinositol-3-phosphate phosphatase;
                     phosphatidylinositol-3,5-bisphosphate 3-phosphatase"
                     /codon_start=1
                     /product="myotubularin isoform 1"
                     /protein_id="NP_001363837.1"
                     /db_xref="CCDS:CCDS14694.1"
                     /db_xref="GeneID:4534"
                     /db_xref="HGNC:HGNC:7448"
                     /db_xref="MIM:300415"
                     /translation="MASASTSKYNSHSLENESIKRTSRDGVNRDLTEAVPRLPGETLI
                     TDKEVIYICPFNGPIKGRVYITNYRLYLRSLETDSSLILDVPLGVISRIEKMGGATSR
                     GENSYGLDITCKDMRNLRFALKQEGHSRRDMFEILTRYAFPLAHSLPLFAFLNEEKFN
                     VDGWTVYNPVEEYRRQGLPNHHWRITFINKCYELCDTYPALLVVPYRASDDDLRRVAT
                     FRSRNRIPVLSWIHPENKTVIVRCSQPLVGMSGKRNKDDEKYLDVIRETNKQISKLTI
                     YDARPSVNAVANKATGGGYESDDAYHNAELFFLDIHNIHVMRESLKKVKDIVYPNVEE
                     SHWLSSLESTHWLEHIKLVLTGAIQVADKVSSGKSSVLVHCSDGWDRTAQLTSLAMLM
                     LDSFYRSIEGFEILVQKEWISFGHKFASRIGHGDKNHTDADRSPIFLQFIDCVWQMSK
                     QFPTAFEFNEQFLIIILDHLYSCRFGTFLFNCESARERQKVTERTVSLWSLINSNKEK
                     FKNPFYTKEINRVLYPVASMRHLELWVNYYIRWNPRIKQQQPNPVEQRYMELLALRDE
                     YIKRLEELQLANSAKLSDPPTSPSSPSQMMPHVQTHF"
     exon            172..244
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /inference="alignment:Splign:2.1.0"
     exon            245..339
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /inference="alignment:Splign:2.1.0"
     exon            340..450
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /inference="alignment:Splign:2.1.0"
     exon            451..552
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /inference="alignment:Splign:2.1.0"
     exon            553..636
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /inference="alignment:Splign:2.1.0"
     exon            637..786
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /inference="alignment:Splign:2.1.0"
     exon            787..975
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /inference="alignment:Splign:2.1.0"
     exon            976..1161
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /inference="alignment:Splign:2.1.0"
     exon            1162..1368
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /inference="alignment:Splign:2.1.0"
     exon            1369..1461
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /inference="alignment:Splign:2.1.0"
     exon            1462..1575
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /inference="alignment:Splign:2.1.0"
     exon            1576..1752
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /inference="alignment:Splign:2.1.0"
     exon            1753..3468
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3444..3449
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /note="hexamer: AATAAA"
     polyA_site      3468
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /note="major polyA site"
ORIGIN      
        1 agccgagcag cctggcaacg gcggtggcgc ccggagcccg aggtgggtgc gcgctcacgg
       61 ctggcctggc tcggagccgg gcactgcggg gacccgtgag tttccaggat ggcttctgca
      121 tcaacttcta aatataattc acactccttg gagaatgagt ctattaagag gacgtctcga
      181 gatggagtca atcgagatct cactgaggct gttcctcgac ttccaggaga aacactaatc
      241 actgacaaag aagttattta catatgtcct ttcaatggcc ccattaaggg aagagtttac
      301 atcacaaatt atcgtcttta tttaagaagt ttggaaacgg attcttctct aatacttgat
      361 gttcctctgg gtgtgatctc gagaattgaa aaaatgggag gcgcgacaag tagaggagaa
      421 aattcctatg gtctagatat tacttgtaaa gacatgagaa acctgaggtt cgctttgaaa
      481 caggaaggcc acagcagaag agatatgttt gagatcctca cgagatacgc gtttcccctg
      541 gctcacagtc tgccattatt tgcattttta aatgaagaaa agtttaacgt ggatggatgg
      601 acagtttaca atccagtgga agaatacagg aggcagggct tgcccaatca ccattggaga
      661 ataactttta ttaataagtg ctatgagctc tgtgacactt accctgctct tttggtggtt
      721 ccgtatcgtg cctcagatga tgacctccgg agagttgcaa cttttaggtc ccgaaatcga
      781 attccagtgc tgtcatggat tcatccagaa aataagacgg tcattgtgcg ttgcagtcag
      841 cctcttgtcg gtatgagtgg gaaacgaaat aaagatgatg agaaatatct cgatgttatc
      901 agggagacta ataaacaaat ttctaaactc accatttatg atgcaagacc cagcgtaaat
      961 gcagtggcca acaaggcaac aggaggagga tatgaaagtg atgatgcata tcataacgcc
     1021 gaacttttct tcttagacat tcataatatt catgttatgc gggaatcttt aaaaaaagtg
     1081 aaggacattg tttatcctaa tgtagaagaa tctcattggt tgtccagttt ggagtctact
     1141 cattggttag aacatatcaa gctcgttttg acaggagcca ttcaagtagc agacaaagtt
     1201 tcttcaggga agagttcagt gcttgtgcat tgcagtgacg gatgggacag gactgctcag
     1261 ctgacatcct tggccatgct gatgttggat agcttctata ggagcattga agggttcgaa
     1321 atactggtac aaaaagaatg gataagtttt ggacataaat ttgcatctcg aataggtcat
     1381 ggtgataaaa accacaccga tgctgaccgt tctcctattt ttctccagtt tattgattgt
     1441 gtgtggcaaa tgtcaaaaca gttccctaca gcttttgaat tcaatgaaca atttttgatt
     1501 ataattttgg atcatctgta tagttgccga tttggtactt tcttattcaa ctgtgaatct
     1561 gctcgagaaa gacagaaggt tacagaaagg actgtttctt tatggtcact gataaacagt
     1621 aataaagaaa aattcaaaaa ccccttctat actaaagaaa tcaatcgagt tttatatcca
     1681 gttgccagta tgcgtcactt ggaactctgg gtgaattact acattagatg gaaccccagg
     1741 atcaagcaac aacagccgaa tccagtggag cagcgttaca tggagctctt agccttacgc
     1801 gacgaataca taaagcggct tgaggaactg cagctcgcca actctgccaa gctttctgat
     1861 cccccaactt caccttccag tccttcgcaa atgatgcccc atgtgcaaac tcacttctga
     1921 ggggggaccc tggcaccgca ttagagctcg aaataaaggc gatagctgac tttcatttgg
     1981 ggcatttgta aaaagtagat taaaatattt gcctccatgt agaacttgaa ctaacataat
     2041 cttaaactct tgaatatgtg ccttctagaa tacatattac aagaaaacta cagggtccac
     2101 acggcaatca gaagaaagga gctgagatga ggttttggaa aaccctgaca cctttaaaaa
     2161 gcagtttttg aaagacaaaa tttagattta atttacgtct tgagaaatac tatatataca
     2221 atatatattt tgtgggctta attgaaacaa cattatttta aaatcaaagg ggatatatgt
     2281 ttgtggaatg gattttcctg aagctgctta acagttgctt tggattctct aagatgaatc
     2341 caaatgtgaa agatgcatgt tactgccaaa accaaattga gctcagcttc ctaggcatta
     2401 cccaaaagca aggtgtttaa gtaattgcca gcttttatac catcatgagt ggtgacttaa
     2461 ggagaaatag ctgtatagat gagtttttca ttatttggaa atttaggggt agaaaatgtt
     2521 ttcccctaat tttccagaga agcctatttt tatattttta aaaaactgac agggcccagt
     2581 taaatatgat ttgcattttt taaatttgcc agttttattt tctaaattct ttcatgagct
     2641 tgcctaaaat tcggaatggt tttcgggttg tggcaaaccc caaagagagc actgtccaag
     2701 gatgtcggga gcatcctgct gcttagggga atgttttcgc aaatgttgct ctagtcagtc
     2761 cagctcatct gccaaaatgt agggctaccg tcttggatgc atgagctatt gctagagcat
     2821 catccttaga aatcagtgcc ccagatgtac atgtgttgag cgtattcttg aaagtattgt
     2881 gtttatgcat ttcaatttca atggtgttgg cttcccctcc ccaccccacg cgtgcataaa
     2941 aactggttct acaaattttt acttgaagta ccaggccgtt tgctttttca ggttgttttg
     3001 ttttatagta ttaagtgaaa ttttaaatgc acagttctat ttgctatctg aactaattca
     3061 tttattaagt atatttgtaa aagctaaggc tcgagttaaa acaatgaagt gttttacaat
     3121 gatttgtaaa ggactattta taactaatat ggttttgttt tcaatgaatt aagaaagatt
     3181 aaatatatct ttgtaaatta ttttatgtca tagtttaatt ggtctaccaa gtaagacatc
     3241 tcaaatacag tagtataatg tatgaatttt gtaagtataa gaaattttat tagacattct
     3301 cttacttttt gtaaatgctg taaatatttc ataaattaac aaagtgtcac tccataaaaa
     3361 gaaagctaat actaatagcc taaaagattt tgtgaaattt catgaaaact ttttaatggc
     3421 aataatgact aaagacctgc tgtaataaat gtattaactg aaacctaa
//
