LOCUS       NM_001399293            2837 bp    mRNA    linear   ROD 13-OCT-2024
DEFINITION  Rattus norvegicus myotubularin 1 (Mtm1), transcript variant 2,
            mRNA.
ACCESSION   NM_001399293 XM_039111821
VERSION     NM_001399293.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Rattus norvegicus (Norway rat)
  ORGANISM  Rattus norvegicus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Rattus.
REFERENCE   1  (bases 1 to 2837)
  AUTHORS   Al-Qusairi,L., Prokic,I., Amoasii,L., Kretz,C., Messaddeq,N.,
            Mandel,J.L. and Laporte,J.
  TITLE     Lack of myotubularin (MTM1) leads to muscle hypotrophy through
            unbalanced regulation of the autophagy and ubiquitin-proteasome
            pathways
  JOURNAL   FASEB J 27 (8), 3384-3394 (2013)
   PUBMED   23695157
REFERENCE   2  (bases 1 to 2837)
  AUTHORS   Joubert,R., Vignaud,A., Le,M., Moal,C., Messaddeq,N. and
            Buj-Bello,A.
  TITLE     Site-specific Mtm1 mutagenesis by an AAV-Cre vector reveals that
            myotubularin is essential in adult muscle
  JOURNAL   Hum Mol Genet 22 (9), 1856-1866 (2013)
   PUBMED   23390130
REFERENCE   3  (bases 1 to 2837)
  AUTHORS   Hnia,K., Tronchere,H., Tomczak,K.K., Amoasii,L., Schultz,P.,
            Beggs,A.H., Payrastre,B., Mandel,J.L. and Laporte,J.
  TITLE     Myotubularin controls desmin intermediate filament architecture and
            mitochondrial dynamics in human and mouse skeletal muscle
  JOURNAL   J Clin Invest 121 (1), 70-85 (2011)
   PUBMED   21135508
REFERENCE   4  (bases 1 to 2837)
  AUTHORS   Buj-Bello,A., Fougerousse,F., Schwab,Y., Messaddeq,N., Spehner,D.,
            Pierson,C.R., Durand,M., Kretz,C., Danos,O., Douar,A.M.,
            Beggs,A.H., Schultz,P., Montus,M., Denefle,P. and Mandel,J.L.
  TITLE     AAV-mediated intramuscular delivery of myotubularin corrects the
            myotubular myopathy phenotype in targeted murine muscle and
            suggests a function in plasma membrane homeostasis
  JOURNAL   Hum Mol Genet 17 (14), 2132-2143 (2008)
   PUBMED   18434328
REFERENCE   5  (bases 1 to 2837)
  AUTHORS   Tsujita,K., Itoh,T., Ijuin,T., Yamamoto,A., Shisheva,A., Laporte,J.
            and Takenawa,T.
  TITLE     Myotubularin regulates the function of the late endosome through
            the gram domain-phosphatidylinositol 3,5-bisphosphate interaction
  JOURNAL   J Biol Chem 279 (14), 13817-13824 (2004)
   PUBMED   14722070
REFERENCE   6  (bases 1 to 2837)
  AUTHORS   Buj-Bello,A., Furling,D., Tronchere,H., Laporte,J., Lerouge,T.,
            Butler-Browne,G.S. and Mandel,J.L.
  TITLE     Muscle-specific alternative splicing of myotubularin-related 1 gene
            is impaired in DM1 muscle cells
  JOURNAL   Hum Mol Genet 11 (19), 2297-2307 (2002)
   PUBMED   12217958
REFERENCE   7  (bases 1 to 2837)
  AUTHORS   Laporte,J., Blondeau,F., Gansmuller,A., Lutz,Y., Vonesch,J.L. and
            Mandel,J.L.
  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   8  (bases 1 to 2837)
  AUTHORS   Taylor,G.S., Maehama,T. and Dixon,J.E.
  TITLE     Myotubularin, a protein tyrosine phosphatase mutated in myotubular
            myopathy, dephosphorylates the lipid second messenger,
            phosphatidylinositol 3-phosphate
  JOURNAL   Proc Natl Acad Sci U S A 97 (16), 8910-8915 (2000)
   PUBMED   10900271
REFERENCE   9  (bases 1 to 2837)
  AUTHORS   Cui,X., De Vivo,I., Slany,R., Miyamoto,A., Firestein,R. and
            Cleary,M.L.
  TITLE     Association of SET domain and myotubularin-related proteins
            modulates growth control
  JOURNAL   Nat Genet 18 (4), 331-337 (1998)
   PUBMED   9537414
REFERENCE   10 (bases 1 to 2837)
  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
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            JAXUCZ010000006.1.
            
            On Jan 6, 2022 this sequence version replaced XM_039111821.1.
            
            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 :: BC079400.1, SRR26360172.2194599.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA5760383,
                                           SAMEA5760386 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-97                JAXUCZ010000006.1  6252778-6252874     c
            98-168              JAXUCZ010000006.1  6248999-6249069     c
            169-241             JAXUCZ010000006.1  6248461-6248533     c
            242-336             JAXUCZ010000006.1  6248050-6248144     c
            337-447             JAXUCZ010000006.1  6247549-6247659     c
            448-549             JAXUCZ010000006.1  6244806-6244907     c
            550-633             JAXUCZ010000006.1  6243372-6243455     c
            634-783             JAXUCZ010000006.1  6242709-6242858     c
            784-972             JAXUCZ010000006.1  6241429-6241617     c
            973-1158            JAXUCZ010000006.1  6240376-6240561     c
            1159-1365           JAXUCZ010000006.1  6238704-6238910     c
            1366-1458           JAXUCZ010000006.1  6238321-6238413     c
            1459-1572           JAXUCZ010000006.1  6237137-6237250     c
            1573-1749           JAXUCZ010000006.1  6236562-6236738     c
            1750-2837           JAXUCZ010000006.1  6234917-6236004     c
FEATURES             Location/Qualifiers
     source          1..2837
                     /organism="Rattus norvegicus"
                     /mol_type="mRNA"
                     /strain="BN"
                     /db_xref="taxon:10116"
                     /chromosome="6"
                     /map="6q11"
     gene            1..2837
                     /gene="Mtm1"
                     /note="myotubularin 1"
                     /db_xref="GeneID:288762"
                     /db_xref="RGD:1304582"
     exon            1..97
                     /gene="Mtm1"
                     /inference="alignment:Splign:2.1.0"
     exon            98..168
                     /gene="Mtm1"
                     /inference="alignment:Splign:2.1.0"
     CDS             106..1914
                     /gene="Mtm1"
                     /EC_number="3.1.3.95"
                     /note="isoform 2 is encoded by transcript variant 2;
                     X-linked myotubular myopathy gene 1;
                     phosphatidylinositol-3-phosphate phosphatase;
                     phosphatidylinositol-3,5-bisphosphate 3-phosphatase"
                     /codon_start=1
                     /product="myotubularin isoform 2"
                     /protein_id="NP_001386222.1"
                     /db_xref="GeneID:288762"
                     /db_xref="RGD:1304582"
                     /translation="MASSSASDCDAHPVERESMRKVSQDGVRQDMSKSGPRLPGESAI
                     TDKEVIYICPFSGPVKGRLYITNYRLYLRSLETDLAPILDVPLGVISRIEKMGGVTSR
                     GENSYGLDITCKDLRNLRFALKQEGHSRRDIFDVLTRHAFPLAYNLPLFAFVNEEKFK
                     VDGWAIYNPVEEYRRQGLPDRHWRISFVNQRYELCDTYPALLVVPYRASDDDLRRVAT
                     FRSRNRIPVLSWIHPENRAAIMRCSQPLVGVGGKRSRDDERYLDIIRETNKQTSKLTI
                     YDARPGVNAVANKATGGGYEGEDAYPHAELSFLDIHNIHVMRESLRRVRDIVYPHVEE
                     AHWLSSLESTHWLEHIKLLLTGAIRVADKVASGLSSVLVHCSDGWDRTAQLTTLAMLM
                     LDGFYRSIEGFEILVQKEWISFGHKFSSRIGHGDKNHADADRSPIFLQFIDCVWQMTK
                     QFPTAFEFNECFLVAILDHLYSCRFGTFLLNCEAARERQRLAERTVSVWSLINSNKDE
                     FTNPFYARESNRVIYPVTSVRHLELWVNYYIRWNPRIRQQPHPMEQRYNELLALRDDY
                     IKKLEELQLATPTKLTDSSTPPSGSAQIAPRMQTHF"
     exon            169..241
                     /gene="Mtm1"
                     /inference="alignment:Splign:2.1.0"
     exon            242..336
                     /gene="Mtm1"
                     /inference="alignment:Splign:2.1.0"
     exon            337..447
                     /gene="Mtm1"
                     /inference="alignment:Splign:2.1.0"
     exon            448..549
                     /gene="Mtm1"
                     /inference="alignment:Splign:2.1.0"
     exon            550..633
                     /gene="Mtm1"
                     /inference="alignment:Splign:2.1.0"
     exon            634..783
                     /gene="Mtm1"
                     /inference="alignment:Splign:2.1.0"
     exon            784..972
                     /gene="Mtm1"
                     /inference="alignment:Splign:2.1.0"
     exon            973..1158
                     /gene="Mtm1"
                     /inference="alignment:Splign:2.1.0"
     exon            1159..1365
                     /gene="Mtm1"
                     /inference="alignment:Splign:2.1.0"
     exon            1366..1458
                     /gene="Mtm1"
                     /inference="alignment:Splign:2.1.0"
     exon            1459..1572
                     /gene="Mtm1"
                     /inference="alignment:Splign:2.1.0"
     exon            1573..1749
                     /gene="Mtm1"
                     /inference="alignment:Splign:2.1.0"
     exon            1750..2837
                     /gene="Mtm1"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gcgagcgtgg cgggggctcg gcgatcgtgg cgggggcgcg gcgatcgtgg cgggggcgtg
       61 gcgagcgcgt tggcaccagc ggcccccgga gtctcaggtt ccaggatggc gtcctcgtca
      121 gcctctgact gtgatgcaca ccccgtggag cgtgagtcca tgaggaaggt gtctcaagat
      181 ggagtccgtc aggatatgag caagagtggg cctcgcctcc caggggaatc agccatcact
      241 gacaaggaag tcatctacat ttgtcccttc agcggccccg taaagggacg actttacatc
      301 accaattacc gtctctacct gagaagtctg gagacggact tggctccgat tcttgacgtc
      361 cccctaggcg tgatatcgag aatagagaaa atgggaggcg tgacgagtcg aggagagaat
      421 tcctacggcc ttgatatcac ctgcaaagac ctgaggaacc tgaggttcgc tctgaagcag
      481 gaaggacaca gcaggaggga catctttgac gtcctcacca gacacgcctt ccccctggct
      541 tacaacctgc cgttgtttgc attcgtgaac gaggagaagt ttaaagtgga tggatgggcg
      601 atttacaacc cggttgaaga gtacagaagg cagggcctcc ccgatcgcca ttggcggata
      661 agtttcgtca atcagcgcta cgagctctgt gacacctacc ctgccctcct ggtcgtcccc
      721 taccgtgcgt ccgatgatga cctcagaaga gttgcaacct ttaggtccag aaaccggatt
      781 cccgtgctgt cgtggatcca cccagagaac agggcggcga tcatgcggtg cagtcagcct
      841 ctggttggtg tgggcgggaa gagaagcaga gatgatgaga gatacctgga catcatccgg
      901 gaaaccaata agcagacctc gaagctcaca atttacgatg cgcggcccgg cgtcaatgcg
      961 gtggccaaca aggcaacggg aggcggctat gagggcgagg acgcgtaccc tcacgcggag
     1021 ctctccttcc tggacatcca caacatccac gtgatgcggg aatccttacg gagggtgagg
     1081 gacatcgtgt acccccacgt ggaggaagct cattggctgt ccagcttgga gtccacccat
     1141 tggttagagc acatcaagct tctcctcact ggtgccatcc gggtcgcaga caaggtggca
     1201 tcggggctga gttcagtcct cgtgcactgc agtgacggct gggaccggac ggctcaactg
     1261 accacgctgg ccatgctgat gctcgatggc ttctaccgca gcatcgaggg ctttgagatc
     1321 ctggtgcaga aggagtggat cagcttcgga cacaagtttt catctagaat tggccacggt
     1381 gacaagaacc acgcggatgc cgaccgctcc ccgattttcc tgcagttcat cgactgcgtg
     1441 tggcagatga cgaagcagtt ccccacagct ttcgagttca acgagtgctt cctggttgcc
     1501 atcttggatc acctgtacag ctgccggttc gggactttct tactaaactg tgaggcggca
     1561 cgggagagac agagactcgc agaaaggacg gtgtctgtgt ggtccctgat caacagcaac
     1621 aaagacgaat tcacaaaccc gttctacgca agggagagca accgcgtgat ctacccggtc
     1681 accagcgtgc gccacctgga actgtgggtg aattactaca tccggtggaa ccccaggatc
     1741 cggcagcagc cccaccccat ggagcagcga tataatgagc tcctggccct gcgtgacgat
     1801 tacatcaaga agctggagga gctgcagctg gccacgccca ccaagctcac tgactcctcc
     1861 accccgcctt ccggttccgc acagatagct ccccgcatgc aaactcactt ctgagggggt
     1921 tccgggcccc aaaccctgaa taagtgacgt caccaacttc cgttctgtgc gcttgtgcaa
     1981 aggggatata aagtctccgc ctctgtgtag aagtcgaact aacaccctag aaccttgtgt
     2041 gacacgtgtg agtgtgcgcc ttttgtgacg tgtgagtgtg cgatttgtgt gacatgtgtg
     2101 aatgtgtacc ctgtgtgata cgtgcaagtg tgcgccttgt gtaaagttcg tgagtgtgca
     2161 cctcctgtaa catgttttgc aaggaatcta ctgcgcttgt gtgccagtcg tgagtacaga
     2221 gtaggggggg tcccggaaaa atcctcacac ttttttacaa agcgcttgtg caaagattaa
     2281 aattaaatta tatcaataat tatataaatt attataatta tattgcaaag attaaaaagt
     2341 taaatttagt ttacctctat ataaatccag acatacataa tatgtactct gtgcgcttaa
     2401 ttgaaacgtt attttaaatc cagaggggag attttttttg taaaatggat ttttcctcca
     2461 gccacttatt ttgcaaagat aaaaaagtta aaataaaagt taaatttaat tatacaaatg
     2521 attatataca ttatatagtt atatttaatt aaataaattc tacgtatata atgtgtattt
     2581 cgtgggctta gttgaaatgt tatttttaaa tccagagggg ttgctttgca ttctctaaaa
     2641 tcagtgcaaa catcagagat gggcatggct gccaaagctg agttgtgccc ggtgtcctcc
     2701 ccagtggatc ccaagaacag ggcatggata aggagaaaaa gtaaagacga gctttgaatt
     2761 ttcgaaaata aaagattctc caatcgtttc taaagagaag cggattttta tattaaagat
     2821 atttttatat cgaaaaa
//
