LOCUS       NM_000252               3412 bp    mRNA    linear   PRI 13-OCT-2024
DEFINITION  Homo sapiens myotubularin 1 (MTM1), transcript variant 5, mRNA.
ACCESSION   NM_000252
VERSION     NM_000252.3
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 3412)
  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 3412)
  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 3412)
  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 3412)
  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 3412)
  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 3412)
  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 3412)
  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 3412)
  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 3412)
  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 3412)
  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 DC418907.1, U46024.1,
            BC030779.1 and BQ002481.1.
            
            On Nov 25, 2019 this sequence version replaced NM_000252.2.
            
            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 :: U46024.1, BC030779.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370396.7/ ENSP00000359423.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-559               DC418907.1         25-583
            560-2172            U46024.1           562-2174
            2173-2904           BC030779.1         2156-2887
            2905-3404           BC030779.1         2889-3388
            3405-3412           BQ002481.1         17-24               c
FEATURES             Location/Qualifiers
     source          1..3412
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..3412
                     /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..42
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /inference="alignment:Splign:2.1.0"
     exon            43..115
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /inference="alignment:Splign:2.1.0"
     CDS             53..1864
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /EC_number="3.1.3.95"
                     /note="isoform 1 is encoded by transcript variant 5;
                     phosphatidylinositol-3-phosphate phosphatase;
                     phosphatidylinositol-3,5-bisphosphate 3-phosphatase"
                     /codon_start=1
                     /product="myotubularin isoform 1"
                     /protein_id="NP_000243.1"
                     /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            116..188
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /inference="alignment:Splign:2.1.0"
     exon            189..283
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /inference="alignment:Splign:2.1.0"
     exon            284..394
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /inference="alignment:Splign:2.1.0"
     exon            395..496
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /inference="alignment:Splign:2.1.0"
     exon            497..580
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /inference="alignment:Splign:2.1.0"
     exon            581..730
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /inference="alignment:Splign:2.1.0"
     exon            731..919
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /inference="alignment:Splign:2.1.0"
     exon            920..1105
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /inference="alignment:Splign:2.1.0"
     exon            1106..1312
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /inference="alignment:Splign:2.1.0"
     exon            1313..1405
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /inference="alignment:Splign:2.1.0"
     exon            1406..1519
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /inference="alignment:Splign:2.1.0"
     exon            1520..1696
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /inference="alignment:Splign:2.1.0"
     exon            1697..3412
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3388..3393
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /note="hexamer: AATAAA"
     polyA_site      3412
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /note="major polyA site"
ORIGIN      
        1 agccgagcag cctggcaacg gcggtggcgc ccggagcccg agagtttcca ggatggcttc
       61 tgcatcaact tctaaatata attcacactc cttggagaat gagtctatta agaggacgtc
      121 tcgagatgga gtcaatcgag atctcactga ggctgttcct cgacttccag gagaaacact
      181 aatcactgac aaagaagtta tttacatatg tcctttcaat ggccccatta agggaagagt
      241 ttacatcaca aattatcgtc tttatttaag aagtttggaa acggattctt ctctaatact
      301 tgatgttcct ctgggtgtga tctcgagaat tgaaaaaatg ggaggcgcga caagtagagg
      361 agaaaattcc tatggtctag atattacttg taaagacatg agaaacctga ggttcgcttt
      421 gaaacaggaa ggccacagca gaagagatat gtttgagatc ctcacgagat acgcgtttcc
      481 cctggctcac agtctgccat tatttgcatt tttaaatgaa gaaaagttta acgtggatgg
      541 atggacagtt tacaatccag tggaagaata caggaggcag ggcttgccca atcaccattg
      601 gagaataact tttattaata agtgctatga gctctgtgac acttaccctg ctcttttggt
      661 ggttccgtat cgtgcctcag atgatgacct ccggagagtt gcaactttta ggtcccgaaa
      721 tcgaattcca gtgctgtcat ggattcatcc agaaaataag acggtcattg tgcgttgcag
      781 tcagcctctt gtcggtatga gtgggaaacg aaataaagat gatgagaaat atctcgatgt
      841 tatcagggag actaataaac aaatttctaa actcaccatt tatgatgcaa gacccagcgt
      901 aaatgcagtg gccaacaagg caacaggagg aggatatgaa agtgatgatg catatcataa
      961 cgccgaactt ttcttcttag acattcataa tattcatgtt atgcgggaat ctttaaaaaa
     1021 agtgaaggac attgtttatc ctaatgtaga agaatctcat tggttgtcca gtttggagtc
     1081 tactcattgg ttagaacata tcaagctcgt tttgacagga gccattcaag tagcagacaa
     1141 agtttcttca gggaagagtt cagtgcttgt gcattgcagt gacggatggg acaggactgc
     1201 tcagctgaca tccttggcca tgctgatgtt ggatagcttc tataggagca ttgaagggtt
     1261 cgaaatactg gtacaaaaag aatggataag ttttggacat aaatttgcat ctcgaatagg
     1321 tcatggtgat aaaaaccaca ccgatgctga ccgttctcct atttttctcc agtttattga
     1381 ttgtgtgtgg caaatgtcaa aacagttccc tacagctttt gaattcaatg aacaattttt
     1441 gattataatt ttggatcatc tgtatagttg ccgatttggt actttcttat tcaactgtga
     1501 atctgctcga gaaagacaga aggttacaga aaggactgtt tctttatggt cactgataaa
     1561 cagtaataaa gaaaaattca aaaacccctt ctatactaaa gaaatcaatc gagttttata
     1621 tccagttgcc agtatgcgtc acttggaact ctgggtgaat tactacatta gatggaaccc
     1681 caggatcaag caacaacagc cgaatccagt ggagcagcgt tacatggagc tcttagcctt
     1741 acgcgacgaa tacataaagc ggcttgagga actgcagctc gccaactctg ccaagctttc
     1801 tgatccccca acttcacctt ccagtccttc gcaaatgatg ccccatgtgc aaactcactt
     1861 ctgagggggg accctggcac cgcattagag ctcgaaataa aggcgatagc tgactttcat
     1921 ttggggcatt tgtaaaaagt agattaaaat atttgcctcc atgtagaact tgaactaaca
     1981 taatcttaaa ctcttgaata tgtgccttct agaatacata ttacaagaaa actacagggt
     2041 ccacacggca atcagaagaa aggagctgag atgaggtttt ggaaaaccct gacaccttta
     2101 aaaagcagtt tttgaaagac aaaatttaga tttaatttac gtcttgagaa atactatata
     2161 tacaatatat attttgtggg cttaattgaa acaacattat tttaaaatca aaggggatat
     2221 atgtttgtgg aatggatttt cctgaagctg cttaacagtt gctttggatt ctctaagatg
     2281 aatccaaatg tgaaagatgc atgttactgc caaaaccaaa ttgagctcag cttcctaggc
     2341 attacccaaa agcaaggtgt ttaagtaatt gccagctttt ataccatcat gagtggtgac
     2401 ttaaggagaa atagctgtat agatgagttt ttcattattt ggaaatttag gggtagaaaa
     2461 tgttttcccc taattttcca gagaagccta tttttatatt tttaaaaaac tgacagggcc
     2521 cagttaaata tgatttgcat tttttaaatt tgccagtttt attttctaaa ttctttcatg
     2581 agcttgccta aaattcggaa tggttttcgg gttgtggcaa accccaaaga gagcactgtc
     2641 caaggatgtc gggagcatcc tgctgcttag gggaatgttt tcgcaaatgt tgctctagtc
     2701 agtccagctc atctgccaaa atgtagggct accgtcttgg atgcatgagc tattgctaga
     2761 gcatcatcct tagaaatcag tgccccagat gtacatgtgt tgagcgtatt cttgaaagta
     2821 ttgtgtttat gcatttcaat ttcaatggtg ttggcttccc ctccccaccc cacgcgtgca
     2881 taaaaactgg ttctacaaat ttttacttga agtaccaggc cgtttgcttt ttcaggttgt
     2941 tttgttttat agtattaagt gaaattttaa atgcacagtt ctatttgcta tctgaactaa
     3001 ttcatttatt aagtatattt gtaaaagcta aggctcgagt taaaacaatg aagtgtttta
     3061 caatgatttg taaaggacta tttataacta atatggtttt gttttcaatg aattaagaaa
     3121 gattaaatat atctttgtaa attattttat gtcatagttt aattggtcta ccaagtaaga
     3181 catctcaaat acagtagtat aatgtatgaa ttttgtaagt ataagaaatt ttattagaca
     3241 ttctcttact ttttgtaaat gctgtaaata tttcataaat taacaaagtg tcactccata
     3301 aaaagaaagc taatactaat agcctaaaag attttgtgaa atttcatgaa aactttttaa
     3361 tggcaataat gactaaagac ctgctgtaat aaatgtatta actgaaacct aa
//
