LOCUS       NM_001040446            5116 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens myotubularin related protein 12 (MTMR12), transcript
            variant 1, mRNA.
ACCESSION   NM_001040446
VERSION     NM_001040446.3
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 5116)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   2  (bases 1 to 5116)
  AUTHORS   St-Denis,N., Gupta,G.D., Lin,Z.Y., Gonzalez-Badillo,B., Veri,A.O.,
            Knight,J.D.R., Rajendran,D., Couzens,A.L., Currie,K.W., Tkach,J.M.,
            Cheung,S.W.T., Pelletier,L. and Gingras,A.C.
  TITLE     Phenotypic and Interaction Profiling of the Human Phosphatases
            Identifies Diverse Mitotic Regulators
  JOURNAL   Cell Rep 17 (9), 2488-2501 (2016)
   PUBMED   27880917
REFERENCE   3  (bases 1 to 5116)
  AUTHORS   Gupta,V.A., Hnia,K., Smith,L.L., Gundry,S.R., McIntire,J.E.,
            Shimazu,J., Bass,J.R., Talbot,E.A., Amoasii,L., Goldman,N.E.,
            Laporte,J. and Beggs,A.H.
  TITLE     Loss of catalytically inactive lipid phosphatase
            myotubularin-related protein 12 impairs myotubularin stability and
            promotes centronuclear myopathy in zebrafish
  JOURNAL   PLoS Genet 9 (6), e1003583 (2013)
   PUBMED   23818870
  REMARK    GeneRIF: Analysis of human XLMTM patient myotubes showed that
            mutations that disrupt the interaction between myotubularin and
            MTMR12 proteins result in reduction of both myotubularin and MTMR12
REFERENCE   4  (bases 1 to 5116)
  AUTHORS   Ritter,B.P., Angelo,G.W., Durner,M., Rossy-Fullana,E.,
            Carrion-Baralt,J., Silverman,J.M. and Bespalova,I.N.
  TITLE     Mutation screening of PDZD2, GOLPH3, and MTMR12 genes in patients
            with schizophrenia
  JOURNAL   Psychiatr Genet 22 (1), 51-52 (2012)
   PUBMED   21451436
  REMARK    GeneRIF: This study does not support the association of PDZD2,
            GOLPH3, and MTMR12 genes with schizophrenia.
REFERENCE   5  (bases 1 to 5116)
  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   6  (bases 1 to 5116)
  AUTHORS   Nandurkar,H.H., Layton,M., Laporte,J., Selan,C., Corcoran,L.,
            Caldwell,K.K., Mochizuki,Y., Majerus,P.W. and Mitchell,C.A.
  TITLE     Identification of myotubularin as the lipid phosphatase catalytic
            subunit associated with the 3-phosphatase adapter protein, 3-PAP
  JOURNAL   Proc Natl Acad Sci U S A 100 (15), 8660-8665 (2003)
   PUBMED   12847286
  REMARK    GeneRIF: Identification of myotubularin as the lipid phosphatase
            catalytic subunit associated with the 3-phosphatase adapter
            protein, 3-PAP.
REFERENCE   7  (bases 1 to 5116)
  AUTHORS   Wishart,M.J. and Dixon,J.E.
  TITLE     PTEN and myotubularin phosphatases: from 3-phosphoinositide
            dephosphorylation to disease
  JOURNAL   Trends Cell Biol 12 (12), 579-585 (2002)
   PUBMED   12495846
  REMARK    Review article
REFERENCE   8  (bases 1 to 5116)
  AUTHORS   Nandurkar,H.H., Caldwell,K.K., Whisstock,J.C., Layton,M.J.,
            Gaudet,E.A., Norris,F.A., Majerus,P.W. and Mitchell,C.A.
  TITLE     Characterization of an adapter subunit to a phosphatidylinositol
            (3)P 3-phosphatase: identification of a myotubularin-related
            protein lacking catalytic activity
  JOURNAL   Proc Natl Acad Sci U S A 98 (17), 9499-9504 (2001)
   PUBMED   11504939
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY028703.1, AC025181.8 and
            BC057393.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001040446.2.
            
            Summary: Phosphatidylinositide 3-kinase-derived membrane-anchored
            phosphatidylinositides, such as phosphatidylinositol 3-phosphate
            (PtdIns(3)P), regulate diverse cellular processes. The protein
            encoded by this gene functions as an adaptor subunit in a complex
            with an active PtdIns(3)P 3-phosphatase. Alternatively spliced
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Jun 2014].
            
            Transcript Variant: This variant (1) 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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.223827.1,
                                           SRR1660807.61944.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000382142.8/ ENSP00000371577.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1871              AY028703.1         7-1877
            1872-3702           AC025181.8         64213-66043         c
            3703-5116           BC057393.1         3537-4950
FEATURES             Location/Qualifiers
     source          1..5116
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p13.3"
     gene            1..5116
                     /gene="MTMR12"
                     /gene_synonym="3-PAP; PIP3AP"
                     /note="myotubularin related protein 12"
                     /db_xref="GeneID:54545"
                     /db_xref="HGNC:HGNC:18191"
                     /db_xref="MIM:606501"
     exon            1..182
                     /gene="MTMR12"
                     /gene_synonym="3-PAP; PIP3AP"
                     /inference="alignment:Splign:2.1.0"
     CDS             102..2345
                     /gene="MTMR12"
                     /gene_synonym="3-PAP; PIP3AP"
                     /note="isoform 1 is encoded by transcript variant 1;
                     phosphatidylinositol-3 phosphate 3-phosphatase adaptor
                     subunit; inactive phosphatidylinositol 3-phosphatase 12;
                     3-phosphatase adapter subunit;
                     phosphatidylinositol-3-phosphate associated protein;
                     3-phosphatase adapter protein; phosphatidylinositol 3
                     phosphate 3-phosphatase adapter subunit"
                     /codon_start=1
                     /product="myotubularin-related protein 12 isoform 1"
                     /protein_id="NP_001035536.1"
                     /db_xref="CCDS:CCDS34138.1"
                     /db_xref="GeneID:54545"
                     /db_xref="HGNC:HGNC:18191"
                     /db_xref="MIM:606501"
                     /translation="MLGKGVVGGGGGTKAPKPSFVSYVRPEEIHTNEKEVTEKEVTLH
                     LLPGEQLLCEASTVLKYVQEDSCQHGVYGRLVCTDFKIAFLGDDESALDNDETQFKNK
                     VIGENDITLHCVDQIYGVFDEKKKTLFGQLKKYPEKLIIHCKDLRVFQFCLRYTKEEE
                     VKRIVSGIIHHTQAPKLLKRLFLFSYATAAQNNTVTDPKNHTVMFDTLKDWCWELERT
                     KGNMKYKAVSVNEGYKVCERLPAYFVVPTPLPEENVQRFQGHGIPIWCWSCHNGSALL
                     KMSALPKEQDDGILQIQKSFLDGIYKTIHRPPYEIVKTEDLSSNFLSLQEIQTAYSKF
                     KQLFLIDNSTEFWDTDIKWFSLLESSSWLDIIRRCLKKAIEITECMEAQNMNVLLLEE
                     NASDLCCLISSLVQLMMDPHCRTRIGFQSLIQKEWVMGGHCFLDRCNHLRQNDKEEVP
                     VFLLFLDCVWQLVHQHPPAFEFTETYLTVLSDSLYIPIFSTFFFNSPHQKDTNMGREG
                     QDTQSKPLNLLTVWDWSVQFEPKAQTLLKNPLYVEKPKLDKGQRKGMRFKHQRQLSLP
                     LTQSKSSPKRGFFREETDHLIKNLLGKRISKLINSSDELQDNFREFYDSWHSKSTDYH
                     GLLLPHIEGPEIKVWAQRYLRWIPEAQILGGGQVATLSKLLEMMEEVQSLQEKIDERH
                     HSQQAPQAEAPCLLRNSARLSSLFPFALLQRHSSKPVLPTSGWKALGDEDDLAKREDE
                     FVDLGDV"
     exon            183..243
                     /gene="MTMR12"
                     /gene_synonym="3-PAP; PIP3AP"
                     /inference="alignment:Splign:2.1.0"
     exon            244..386
                     /gene="MTMR12"
                     /gene_synonym="3-PAP; PIP3AP"
                     /inference="alignment:Splign:2.1.0"
     exon            387..459
                     /gene="MTMR12"
                     /gene_synonym="3-PAP; PIP3AP"
                     /inference="alignment:Splign:2.1.0"
     exon            460..590
                     /gene="MTMR12"
                     /gene_synonym="3-PAP; PIP3AP"
                     /inference="alignment:Splign:2.1.0"
     exon            591..684
                     /gene="MTMR12"
                     /gene_synonym="3-PAP; PIP3AP"
                     /inference="alignment:Splign:2.1.0"
     exon            685..814
                     /gene="MTMR12"
                     /gene_synonym="3-PAP; PIP3AP"
                     /inference="alignment:Splign:2.1.0"
     exon            815..890
                     /gene="MTMR12"
                     /gene_synonym="3-PAP; PIP3AP"
                     /inference="alignment:Splign:2.1.0"
     exon            891..997
                     /gene="MTMR12"
                     /gene_synonym="3-PAP; PIP3AP"
                     /inference="alignment:Splign:2.1.0"
     exon            998..1122
                     /gene="MTMR12"
                     /gene_synonym="3-PAP; PIP3AP"
                     /inference="alignment:Splign:2.1.0"
     exon            1123..1201
                     /gene="MTMR12"
                     /gene_synonym="3-PAP; PIP3AP"
                     /inference="alignment:Splign:2.1.0"
     exon            1202..1272
                     /gene="MTMR12"
                     /gene_synonym="3-PAP; PIP3AP"
                     /inference="alignment:Splign:2.1.0"
     exon            1273..1445
                     /gene="MTMR12"
                     /gene_synonym="3-PAP; PIP3AP"
                     /inference="alignment:Splign:2.1.0"
     exon            1446..1613
                     /gene="MTMR12"
                     /gene_synonym="3-PAP; PIP3AP"
                     /inference="alignment:Splign:2.1.0"
     exon            1614..1775
                     /gene="MTMR12"
                     /gene_synonym="3-PAP; PIP3AP"
                     /inference="alignment:Splign:2.1.0"
     exon            1776..5116
                     /gene="MTMR12"
                     /gene_synonym="3-PAP; PIP3AP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2461..2466
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTMR12"
                     /gene_synonym="3-PAP; PIP3AP"
                     /note="hexamer: AATAAA"
     polyA_site      2484
                     /gene="MTMR12"
                     /gene_synonym="3-PAP; PIP3AP"
     regulatory      5094..5099
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTMR12"
                     /gene_synonym="3-PAP; PIP3AP"
                     /note="hexamer: ATTAAA"
     polyA_site      5116
                     /gene="MTMR12"
                     /gene_synonym="3-PAP; PIP3AP"
                     /note="major polyA site"
ORIGIN      
        1 ggagccccag ccgctagtgc tggtggccgc cgctgctgcc ccagctggag cccgagccgc
       61 cgcctctgcg tccgcgcgtc gctgcttccc agggcggcgg tatgctgggg aaaggagtag
      121 tcggcggtgg cggcggcacc aaggccccca agccctcctt cgtgtcgtac gtacgccctg
      181 aggaaattca cacaaacgaa aaggaagtaa cagagaagga agtaactctt cacttgttgc
      241 caggtgaaca gctgctttgt gaagccagca cagtactgaa gtatgtccag gaagattcct
      301 gtcagcatgg ggtctatggg aggcttgtct gcacagactt caagattgcc ttcttgggtg
      361 atgatgaatc tgcattggat aatgatgaaa ctcaatttaa gaataaggtt ataggagaaa
      421 atgacattac actccactgt gttgatcaga tttatggagt gtttgatgag aaaaagaaaa
      481 ctctctttgg acaactgaag aaataccctg agaagctcat catccactgc aaagaccttc
      541 gagtgttcca gttttgtctg aggtacacaa aggaagagga agtcaaaagg attgtcagtg
      601 gcataattca tcatacccag gctcctaaac tgcttaaacg attatttctg ttttcctatg
      661 cgactgctgc acaaaacaat acagtcactg atcccaagaa ccataccgta atgtttgaca
      721 cacttaagga ctggtgttgg gaactggaac ggaccaaagg caacatgaag tacaaagcag
      781 tgagtgtcaa cgaaggctat aaagtctgtg agagattgcc agcatacttt gttgtcccca
      841 cccctcttcc tgaagagaat gtgcagcgct ttcagggtca tggcatacca atatggtgtt
      901 ggtcctgcca caatggaagt gcccttttga aaatgtcagc actgcccaaa gaacaggatg
      961 acggcatttt acaaatccaa aagagcttct tagatggaat ttacaagacc atccacaggc
     1021 caccctatga aattgttaaa acggaagacc tgtcaagcaa cttcctgtcc ctgcaggaaa
     1081 tccagactgc atactctaaa tttaaacagc tatttctgat agataacagt actgaatttt
     1141 gggacacaga tataaaatgg ttttctctgt tggaaagtag cagctggctt gacataatca
     1201 gacgttgcct gaaaaaagca atagagatta cagaatgtat ggaagcacaa aacatgaatg
     1261 ttcttctttt agaggagaat gcatccgacc tctgctgtct catttcctct ctggtgcaac
     1321 tgatgatgga cccccactgc agaaccagaa ttggtttcca gagcctcatc caaaaggagt
     1381 gggtcatggg tggccactgt ttcttggatc gctgcaacca tctccgccag aacgacaaag
     1441 aggaggttcc tgtgttcctg cttttcctag attgtgtctg gcagctggtg caccagcatc
     1501 ccccggcatt tgaattcaca gagacttacc tgactgtttt gtcagatagc ctgtatatac
     1561 ctatttttag caccttcttc ttcaattcac ctcatcaaaa agatactaac atgggtagag
     1621 aaggccagga tacacaaagc aagcctttga atctgctcac cgtgtgggat tggtcggtgc
     1681 agtttgaacc caaagcccag acattgctca aaaaccctct ttatgtggaa aagccaaaac
     1741 tggacaaagg ccaacggaaa ggaatgcgct tcaaacatca acgacaactt tctttgccac
     1801 ttacacaatc taagtcatct cccaaaagag gatttttcag ggaagaaaca gatcatttaa
     1861 ttaaaaacct tctgggcaag agaattagca aacttattaa ttcttctgat gagctccaag
     1921 acaactttcg agagttctat gacagctggc atagcaagtc cactgactac catggtttgt
     1981 tgttaccgca tatcgagggg cccgaaatca aagtctgggc ccagcgctac ctacgttgga
     2041 ttccagaagc ccaaatccta ggtggtggcc aagtggccac tctgagcaaa ctcttggaaa
     2101 tgatggagga agtccagagt ttacaagaga agatcgacga gagacaccac agccagcagg
     2161 ccccccaggc tgaggccccc tgcctgctga ggaactctgc ccgcctctcg tctttgtttc
     2221 ctttcgctct gctccagcga cattcctcta agcccgtctt acccaccagt ggctggaaag
     2281 ctttgggaga tgaagacgat ttggccaaac gagaagatga gttcgtggac ctaggggatg
     2341 tgtgacctgt ttgttgagtg attgtgaaag aggaatgtgg gagattggga cagctgatcc
     2401 ctggatttgt gtcacgctac agctcatgct ggctgggtcc ttagcccggc actccgttag
     2461 aataaacctg ggccttcggg aaaagaggtg gctctcatta tttttcatga ttctaaaaga
     2521 ctatgcaatt aaaaccgcat ctgtagtatt actaattgga aggaattatt acttgacccg
     2581 taatagggtt gtggccgttt tctgatgcct aagtattata cagagcccac aatggccagt
     2641 ttactaccag aaagggcttc agtaagatat tcttggactt gatactttct tcagatcctc
     2701 tttgtgccaa gataatttat ccagtcattg ggaatagtaa gtttctgtgt aacccatctc
     2761 aattatagaa gcaagttcag ctttatgtat ttgtatgggg agttgaagat tcagatagag
     2821 gtattaagat gtgtggcatt tacttaaacc atcacatttt tttctttcta cgcccccttg
     2881 cctgtaaaac acctgggaag ttccactggt gtcatccatc ctgatgcttc agaccaccct
     2941 cccttcttca cagaccgtgt cactttgcct gtgggtgggg gctagccagc caccaccctc
     3001 ttttctgtgc tgccagcccc aggtcttcct ccgcctgctc cacaccactc gccgctgtcc
     3061 ctctgcactc cctgccttgg tgcgtgtagt cccagtgtct cactgccaaa cctcttggtt
     3121 acgctgcggg gatctgtttc tttgcctgag atccttcctg aggagcgtcc attcctctgg
     3181 agtctctcct tgtttggaac aaatcgcttc gcctttttct acttgcctgc tgaagctttg
     3241 gagcacttgt gattgcagtt ttctgccgca acccctgagc cgagttcctc acattctttt
     3301 acctttatgg actgatggga ttgggtcact tttgaatgtg gctttcatag gaaagcagct
     3361 taaacataaa tatcagaagt gatgattatc atatgatacc tcagtgattt taaaagccat
     3421 agaagaaact tgactatgcc tggtcacctt cttggatctg ctgtctaaat gatatatata
     3481 tgatatatat gtgatatata tatatcatat atatgatata tatatatata tcacatatat
     3541 atgatatata tatgatatat atatatcaca tatatatgat atatatatca tatatatgat
     3601 atatattttt tttaatgcag gaaagtatac tttgtaagga gcagattttt ttgttctcag
     3661 tggaaccctg tcaaatcgca taaaagagga aaaaaacaaa actcattaga atgttttaaa
     3721 ttgaatgttc gccttttaca tatatttgct cttcagtatg gatcccaatt tgaatgttac
     3781 atgttcggaa aaactttcag ttgctcaagg gcaataagaa aatttgaggc cgggtgtggt
     3841 ggctcacgcc tgtaatccca gcactttggg aggctcaggt gggcgaattg cttgagccca
     3901 ggagttcgag accagccggg gcaacatggc aaaaccctgt ctctactaaa aatacaaaaa
     3961 ttagctgggt gtggtggtgc atgcctgtag tcccagctac tcgggaggct gaggtgggag
     4021 gatcccgtga gcctgggagg tggagtttgc agtgagctaa gatcgtgcca ctgcactccg
     4081 gcctgggtga tggagcaaga cctcgtctca gaaaattgga aactattgac taagagaagt
     4141 ttctaggttt gcactgaatt gtcttttgta catacagtga attgttttgc tgttctcccc
     4201 actccatatt aatgcaggag ccaggttggt ctgttaggat gaacaaaggt tgaggggagg
     4261 gcaggattcg tgcatctggg ggccaaacac atgttccgtc ttgattgcct taagagttac
     4321 tagcgaggtc agtgttaggc ttgcaatagg gattttaaaa tacactaact agttccttag
     4381 ctaccttcac atacattcta taggccttct taaattagca ctaacctcca cttccttctc
     4441 tgccccattg cctcccaaat atgctatgga gctatttttg ttaccacgtt ataacgtgaa
     4501 tatttataca gtagcctctt caggctttgt aattttcatt ccaaaaatgc ccggtgtgat
     4561 gctttacact ctacaaagta tggtttaaag gcacaaggtc atggcctttg tcatagcagt
     4621 tgaatgtgca ttgacatatt tttctatgat tttttaaaat tacaatagaa aaataagctg
     4681 ttgtaacgtg taaggtcatg acaatttttg tatttatatt tgaaatcaga tttctataac
     4741 tcgtatttgt gtacagaatt ctcaatggat ttatatattg tgaaattttt atctgagatt
     4801 gggatgtgga ttatgcttaa cagtgagagc tgaaatgaga ccatttactt tgtttaaaat
     4861 gctgtactgt gcaagtttgg aaatgtaaat taatttactg tatataatat cttgagtttg
     4921 tttatacctc caagttttta cactgaagat aaactagctt taattcaaaa cttttttttt
     4981 ctttataagg gaataagctg ttgagctaaa cctgtatact tgtgcttttt attttctgga
     5041 tgcacaatga aagtttatac ttgtatctca ctgcatcata tctgattgca gaaattaaag
     5101 cacaatttac aagcaa
//
