LOCUS       NM_001306144            4536 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens myotubularin related protein 1 (MTMR1), transcript
            variant 1, mRNA.
ACCESSION   NM_001306144 XM_005274768
VERSION     NM_001306144.3
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 4536)
  AUTHORS   Chui,A.J., Griswold,A.R., Taabazuing,C.Y., Orth,E.L., Gai,K.,
            Rao,S.D., Ball,D.P., Hsiao,J.C. and Bachovchin,D.A.
  TITLE     Activation of the CARD8 Inflammasome Requires a Disordered Region
  JOURNAL   Cell Rep 33 (2), 108264 (2020)
   PUBMED   33053349
REFERENCE   2  (bases 1 to 4536)
  AUTHORS   Bong,S.M., Son,K.B., Yang,S.W., Park,J.W., Cho,J.W., Kim,K.T.,
            Kim,H., Kim,S.J., Kim,Y.J. and Lee,B.I.
  TITLE     Crystal Structure of Human Myotubularin-Related Protein 1 Provides
            Insight into the Structural Basis of Substrate Specificity
  JOURNAL   PLoS One 11 (3), e0152611 (2016)
   PUBMED   27018598
  REMARK    Erratum:[PLoS One. 2018 Jan 2;13(1):e0190844. doi:
            10.1371/journal.pone.0190844.. PMID: 29293653]
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4536)
  AUTHORS   Santoro,M., Modoni,A., Masciullo,M., Gidaro,T., Broccolini,A.,
            Ricci,E., Tonali,P.A. and Silvestri,G.
  TITLE     Analysis of MTMR1 expression and correlation with muscle
            pathological features in juvenile/adult onset myotonic dystrophy
            type 1 (DM1) and in myotonic dystrophy type 2 (DM2)
  JOURNAL   Exp Mol Pathol 89 (2), 158-168 (2010)
   PUBMED   20685272
  REMARK    GeneRIF: an aberrant MTMR1 expression and signs of altered myofiber
            maturation were documented in both DM1 and in DM2 muscle tissues.
REFERENCE   4  (bases 1 to 4536)
  AUTHORS   Lorenzo,O., Urbe,S. and Clague,M.J.
  TITLE     Systematic analysis of myotubularins: heteromeric interactions,
            subcellular localisation and endosome related functions
  JOURNAL   J Cell Sci 119 (Pt 14), 2953-2959 (2006)
   PUBMED   16787938
REFERENCE   5  (bases 1 to 4536)
  AUTHORS   Laporte,J., Bedez,F., Bolino,A. and Mandel,J.L.
  TITLE     Myotubularins, a large disease-associated family of cooperating
            catalytically active and inactive phosphoinositides phosphatases
  JOURNAL   Hum Mol Genet 12 Spec No 2, R285-R292 (2003)
   PUBMED   12925573
  REMARK    GeneRIF: REVIEW : MTMR1 belongs to the myotubularin family of
            phosphoinositides phosphatases
            Review article
REFERENCE   6  (bases 1 to 4536)
  AUTHORS   Kim,S.A., Taylor,G.S., Torgersen,K.M. and Dixon,J.E.
  TITLE     Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated
            in myotubular myopathy and type 4B Charcot-Marie-Tooth disease
  JOURNAL   J Biol Chem 277 (6), 4526-4531 (2002)
   PUBMED   11733541
REFERENCE   7  (bases 1 to 4536)
  AUTHORS   Laporte,J., Blondeau,F., Buj-Bello,A. and Mandel,J.L.
  TITLE     The myotubularin family: from genetic disease to phosphoinositide
            metabolism
  JOURNAL   Trends Genet 17 (4), 221-228 (2001)
   PUBMED   11275328
REFERENCE   8  (bases 1 to 4536)
  AUTHORS   Kioschis,P., Wiemann,S., Heiss,N.S., Francis,F., Gotz,C.,
            Poustka,A., Taudien,S., Platzer,M., Wiehe,T., Beckmann,G.,
            Weber,J., Nordsiek,G. and Rosenthal,A.
  TITLE     Genomic organization of a 225-kb region in Xq28 containing the gene
            for X-linked myotubular myopathy (MTM1) and a related gene (MTMR1)
  JOURNAL   Genomics 54 (2), 256-266 (1998)
   PUBMED   9828128
REFERENCE   9  (bases 1 to 4536)
  AUTHORS   Laporte,J., Blondeau,F., Buj-Bello,A., Tentler,D., Kretz,C.,
            Dahl,N. and Mandel,J.L.
  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
REFERENCE   10 (bases 1 to 4536)
  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     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF002223.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001306144.2.
            
            Summary: This gene encodes a member of the myotubularin related
            family of proteins. Members of this family contain the consensus
            sequence for the active site of protein tyrosine phosphatases.
            Alternatively spliced variants have been described but their
            biological validity has not been determined. [provided by RefSeq,
            Jul 2008].
            
            Transcript Variant: This variant (1) encodes isoform 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 :: AK226109.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000445323.7/ ENSP00000414178.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-281               AF002223.2         107974-108254
            282-387             AF002223.2         113773-113878
            388-411             AF002223.2         126919-126942
            412-487             AF002223.2         133202-133277
            488-582             AF002223.2         141792-141886
            583-690             AF002223.2         142261-142368
            691-792             AF002223.2         144686-144787
            793-876             AF002223.2         145102-145185
            877-1026            AF002223.2         146047-146196
            1027-1215           AF002223.2         147119-147307
            1216-1401           AF002223.2         151172-151357
            1402-1608           AF002223.2         151819-152025
            1609-1701           AF002223.2         158938-159030
            1702-1815           AF002223.2         165307-165420
            1816-1992           AF002223.2         170266-170442
            1993-4536           AF002223.2         177143-179686
FEATURES             Location/Qualifiers
     source          1..4536
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..4536
                     /gene="MTMR1"
                     /note="myotubularin related protein 1"
                     /db_xref="GeneID:8776"
                     /db_xref="HGNC:HGNC:7449"
                     /db_xref="MIM:300171"
     exon            1..281
                     /gene="MTMR1"
                     /inference="alignment:Splign:2.1.0"
     CDS             136..2157
                     /gene="MTMR1"
                     /EC_number="3.1.3.95"
                     /note="isoform 1 is encoded by transcript variant 1;
                     phosphatidylinositol-3-phosphate phosphatase;
                     phosphatidylinositol-3,5-bisphosphate 3-phosphatase;
                     phosphatidylinositol-3-phosphate phosphatase MTMR1"
                     /codon_start=1
                     /product="phosphatidylinositol-3-phosphate phosphatase
                     MTMR1 isoform 1"
                     /protein_id="NP_001293073.1"
                     /db_xref="CCDS:CCDS78512.1"
                     /db_xref="GeneID:8776"
                     /db_xref="HGNC:HGNC:7449"
                     /db_xref="MIM:300171"
                     /translation="MDRPAAAAAAGCEGGGGPNPGPAGGRRPPRAAGGATAGSRQPSV
                     ETLDSPTGSHVEWCKQLIAATISSQISGSVTSENVSRDYKVFRRPDLRALRDGNKLAQ
                     MEEAPLFPGESIKAIVKDVMYICPFMGAVSGTLTVTDFKLYFKNVERDPHFILDVPLG
                     VISRVEKIGAQSHGDNSCGIEIVCKDMRNLRLAYKQEEQSKLGIFENLNKHAFPLSNG
                     QALFAFSYKEKFPINGWKVYDPVSEYKRQGLPNESWKISKINSNYEFCDTYPAIIVVP
                     TSVKDDDLSKVAAFRAKGRVPVLSWIHPESQATITRCSQPLVGPNDKRCKEDEKYLQT
                     IMDANAQSHKLIIFDARQNSVADTNKTKGGGYESESAYPNAELVFLEIHNIHVMRESL
                     RKLKEIVYPSIDEARWLSNVDGTHWLEYIRMLLAGAVRIADKIESGKTSVVVHCSDGW
                     DRTAQLTSLAMLMLDSYYRTIKGFETLVEKEWISFGHRFALRVGHGNDNHADADRSPI
                     FLQFVDCVWQMTRQFPSAFEFNELFLITILDHLYSCLFGTFLCNCEQQRFKEDVYTKT
                     ISLWSYINSQLDEFSNPFFVNYENHVLYPVASLSHLELWVNYYVRWNPRMRPQMPIHQ
                     NLKELLAVRAELQKRVEGLQREVATRAVSSSSERGSSPSHSATSVHTSV"
     exon            282..387
                     /gene="MTMR1"
                     /inference="alignment:Splign:2.1.0"
     exon            388..411
                     /gene="MTMR1"
                     /inference="alignment:Splign:2.1.0"
     exon            412..487
                     /gene="MTMR1"
                     /inference="alignment:Splign:2.1.0"
     exon            488..582
                     /gene="MTMR1"
                     /inference="alignment:Splign:2.1.0"
     exon            583..690
                     /gene="MTMR1"
                     /inference="alignment:Splign:2.1.0"
     exon            691..792
                     /gene="MTMR1"
                     /inference="alignment:Splign:2.1.0"
     exon            793..876
                     /gene="MTMR1"
                     /inference="alignment:Splign:2.1.0"
     exon            877..1026
                     /gene="MTMR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1027..1215
                     /gene="MTMR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1216..1401
                     /gene="MTMR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1402..1608
                     /gene="MTMR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1609..1701
                     /gene="MTMR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1702..1815
                     /gene="MTMR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1816..1992
                     /gene="MTMR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1993..4536
                     /gene="MTMR1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4333..4338
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTMR1"
                     /note="hexamer: ATTAAA"
     polyA_site      4352
                     /gene="MTMR1"
                     /note="major polyA site"
     regulatory      4420..4425
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTMR1"
                     /note="hexamer: AATAAA"
     polyA_site      4446
                     /gene="MTMR1"
     regulatory      4466..4471
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTMR1"
                     /note="hexamer: AATATA"
     polyA_site      4487
                     /gene="MTMR1"
     regulatory      4514..4519
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTMR1"
                     /note="hexamer: AGTAAA"
     polyA_site      4536
                     /gene="MTMR1"
ORIGIN      
        1 gacagctaat ggcggcggcc gcctgaggcg ggcgggcggt atagagcggg cggcaggagg
       61 caagcagcga aaccttcccg gccgccgctc ccgtcccgac ggcggcttcc ccaaggcggc
      121 aggactcggc gcgccatgga caggccggcg gcggcggcgg cggcgggctg cgagggcggc
      181 gggggcccga acccggggcc ggcgggcggc aggaggcctc ctcgggccgc ggggggcgcc
      241 accgccggct cccggcagcc cagcgtggag accctggaca gtcccacagg atcacatgtt
      301 gaatggtgta aacagcttat agctgctaca atttctagtc agatttcagg ttcagtgaca
      361 tcagaaaatg tgtccagaga ttacaaggtt ttcaggaggc ctgatctaag ggctctaagg
      421 gatggaaata agctggcaca gatggaagag gctccacttt tcccaggaga atcaattaaa
      481 gccattgtga aagatgtcat gtatatctgc ccatttatgg gagcagtgag tggaaccctg
      541 acagtgacgg actttaagct gtacttcaaa aatgtcgaga gggacccgca ttttatcctt
      601 gatgttcccc ttggagtgat cagcagagtg gagaagattg gagcacagag ccatggagac
      661 aattcctgtg gtatagagat agtgtgcaag gatatgagga acttgcggct tgcttataaa
      721 caggaagaac agagtaaact agggatattt gaaaacctca acaaacatgc atttcctctt
      781 tctaacggac aggcactatt tgcattcagc tataaagaaa aatttccaat taatggctgg
      841 aaagtttatg atccagtatc tgaatataag agacagggct tgccaaatga gagttggaaa
      901 atatccaaaa taaacagtaa ttatgagttc tgtgacacct accctgccat cattgttgtg
      961 ccaactagtg taaaagatga tgacctttca aaagtggcag cttttcgagc aaaaggcaga
     1021 gtccctgtgt tgtcatggat tcatccggaa agtcaagcaa cgattacccg ttgcagccag
     1081 ccacttgtgg gtcccaatga taagcgctgc aaagaggatg aaaaatactt gcaaacaata
     1141 atggatgcta acgcacagtc acacaagctt atcatctttg atgctcgaca aaacagtgtc
     1201 gctgatacca acaagacaaa gggtggagga tatgaaagtg aaagtgctta cccaaatgca
     1261 gaacttgtgt tcttggagat ccacaacatt catgtcatgc gagagtcact acgcaaatta
     1321 aaagagattg tgtacccttc gatcgatgag gcgcggtggc tctccaatgt ggatgggacg
     1381 cattggctgg aatatataag gatgctgctt gctggggcag taagaattgc tgataaaata
     1441 gaatctggga aaacatctgt ggtggtgcat tgcagcgacg gttgggaccg aacagcccag
     1501 ctcacatctc tggctatgct aatgttggac agttactaca ggaccattaa aggatttgaa
     1561 actctcgtag aaaaggagtg gataagcttt ggacacaggt ttgcactgcg agtgggccat
     1621 ggtaatgaca accatgcgga tgctgaccga tctcccatat ttctgcagtt tgttgattgt
     1681 gtttggcaaa tgacaaggca gtttccttca gcattcgagt ttaatgagct attcttgatt
     1741 acaattttgg atcaccttta tagctgtctt tttgggacct ttttgtgcaa ctgtgaacag
     1801 cagcgattca aagaggatgt atatacaaag acgatatctt tatggtcgta tatcaatagc
     1861 cagctagacg agttttctaa tcccttcttt gtgaattatg aaaaccacgt gttatatcct
     1921 gttgctagtc tgagtcattt ggaattgtgg gtaaattatt atgtacgatg gaatccacgg
     1981 atgagacctc agatgcccat tcaccagaat ctcaaggagc tgctggccgt cagggcggag
     2041 ctgcagaagc gtgtggaggg cctacagcgg gaggtggcca cgcgcgccgt ctcatcctca
     2101 tctgagcggg gctcctcgcc ctcccactcc gccacctccg tccacacctc ggtctgatgg
     2161 gcgaggtcag cctgctgctc cactgtctcc cggtggctca ggaaagggac ctggcgatca
     2221 ctgttatggc tgtagcttgt gatcttgtct tttaggatta ggcccaggga ccatttgtgt
     2281 ggctaggtga cagctcccac tgttggcaac cgttaccctc ctgtcagcgg tttcacaggg
     2341 gagccgtctg tcacgcccac cctgtgaagc aacttctggc attcaggcag cttgggagaa
     2401 actaagtgaa cggaatgcag tactgaggtt caagaaagct gtacgccatt tctttccaac
     2461 ttaaatcctt cagtaacaac aaacaccact cacttcaaga tgcattgcca gccccgtggc
     2521 ttccctcagc tcttggccac aacttgaaaa ctgtcttgaa tgaagtactt ggggagaaga
     2581 caggccactg ccctctgttc cacagttttc ttcatgcacg gggtcctcct gttaacaatt
     2641 actgttgtgt acatataagg tatttttaga gaagagaaac aggcctttat tttcctatgt
     2701 ccttttttac gtttagaata gtcacccgag gggggatcag ctcaactgta ctgtgggaga
     2761 aattcttttc caacaaacct catgctcgtt tttctgtggt gcaatttcaa gggcaacgtg
     2821 ttctgtcctc acctcactct ggtactcgcc tcttggggcg gctcagccca ttcatgggga
     2881 tggcaccaag cggccatgct cagtcttcca gccccgctga gggtaaaccg aggcctctgg
     2941 cagctgtgca caggtgctgg cctctggctc cttcaaggag cactgcctgt cactcgctcc
     3001 tgggctgtct agccatgtct cccaccccca ctttaccgca gccagctgct gggatcaaag
     3061 caagtctgtt cttatgttat ttgcctgtat gaaatcattt ctcattttat cacaattcct
     3121 tcaactcagc ttactcgcgt ggctgcctgt tcatatttga aagcagccac cgtgctgtgg
     3181 ctttggtttg gaaaagcata gcacgcactt cccttggttt tcccttccca gagccgaccg
     3241 cagctggtca gccctctctt cccgctcctg aacctttact tactgacttt gagctctgtg
     3301 actccgtcgg ttctcgcagg aattaactaa cttaccaatt ggttcaatcc acttgagcgc
     3361 catagctctg agctcctctg tgtgacatgc cacagatgac tattgcacac ctgggtcctg
     3421 ccccagcagg ccatgcccct cccatgtgcc gtgcctgttg ctgcagctgc ccccccaccc
     3481 cgccactggc tgcaggaatt cagcctttag aggcagaggc agctgcagcg gcccctgagg
     3541 tcaaacccca gtgtgactgc atagcagtgt tagctggttg gtttcaaact actggattcc
     3601 aggcaaaggc ctacagattg accttattat ttttgaaaat atgttaaggg ttttttcgta
     3661 gagagagaaa gaatggattt ttttttaact gggaacctcc tgattcttac ggaaaattat
     3721 ccttctataa gaagatacca gagagattta ttcaaggtaa tttgataacc taaaatcaat
     3781 tctccatttt ttatcatatg tgggatttgt tgctaagtcg tgttcaacaa tagcttttat
     3841 gttcctaaca tatctgaaag cttatttatg aatggatata ctggattatt gatatactga
     3901 tttttttttt aatggggaca tttgccattt tcttcccaga aatatgtaat cccctggctg
     3961 actaggactg ttaaacatag tgtggactgg atgatgcctt cgacaaacca gagaagccaa
     4021 gttgggggga gctggtgcct ggagtgggcc ctgtgcacct cacctggcgg aggctggggg
     4081 gggctctgtc agcaggaccc tagaggagac tctcattcga ttttaaagaa gcacaacggg
     4141 tcattttcct ttgtatgttc ctagcgcaga actgtttcta aaacaacttg aagtatagtt
     4201 ttgttatcta agcaattttt gttttaagta agtaagtgta ctagaatgcg aagccgttat
     4261 ggttcaggtt tttaaaaact ggtacagtat tgtatttgtc tcatctgttg cactgtattt
     4321 caatcatctg taattaaaat gatcatatgt ttgctccctg gtctttttta agtaagtaag
     4381 taagtatctt agtagatttt tcctttgagg aaaatcggta ataaaataac atggattgaa
     4441 tgtttactgt gcgtcaagca cagttaatat atgatgatgt aaagtaacta actttatgtg
     4501 atttaattca ttcagtaaat tgtaaatgta tcatga
//
