LOCUS       NM_001400532            1967 bp    mRNA    linear   PRI 20-OCT-2024
DEFINITION  Homo sapiens myotubularin related protein 14 (MTMR14), transcript
            variant 18, mRNA.
ACCESSION   NM_001400532
VERSION     NM_001400532.1
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 1967)
  AUTHORS   Kovacs,T., Szinyakovics,J., Billes,V., Muranyi,G., Varga,V.B.,
            Bjelik,A., Legradi,A., Szabo,M., Sandor,S., Kubinyi,E.,
            Szekeres-Paracky,C., Szocsics,P., Loke,J., Mulder,J., Gulyas,B.,
            Renner,E., Palkovits,M., Gulya,K., Magloczky,Z. and Vellai,T.
  TITLE     A conserved MTMR lipid phosphatase increasingly suppresses
            autophagy in brain neurons during aging
  JOURNAL   Sci Rep 12 (1), 21817 (2022)
   PUBMED   36528685
  REMARK    GeneRIF: A conserved MTMR lipid phosphatase increasingly suppresses
            autophagy in brain neurons during aging.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1967)
  AUTHORS   Li,Z., Rong,L., Lian,H., Cheng,J., Wu,X. and Li,X.
  TITLE     Knockdown MTMR14 promotes cell apoptosis and inhibits migration in
            liver cancer cells
  JOURNAL   Gene 691, 106-113 (2019)
   PUBMED   30586604
  REMARK    GeneRIF: Results demonstrated that MTMR14 expression is
            overexpressed in liver cancer. A loss-of-function study showed that
            knockdown of MTMR14 promotes cell apoptosis and inhibits cell
            migration, and inhibits tumor migration in vivo in a liver cancer
            peritoneal implantation nude mouse model.
REFERENCE   3  (bases 1 to 1967)
  AUTHORS   Sahni,N., Yi,S., Taipale,M., Fuxman Bass,J.I.,
            Coulombe-Huntington,J., Yang,F., Peng,J., Weile,J., Karras,G.I.,
            Wang,Y., Kovacs,I.A., Kamburov,A., Krykbaeva,I., Lam,M.H.,
            Tucker,G., Khurana,V., Sharma,A., Liu,Y.Y., Yachie,N., Zhong,Q.,
            Shen,Y., Palagi,A., San-Miguel,A., Fan,C., Balcha,D., Dricot,A.,
            Jordan,D.M., Walsh,J.M., Shah,A.A., Yang,X., Stoyanova,A.K.,
            Leighton,A., Calderwood,M.A., Jacob,Y., Cusick,M.E.,
            Salehi-Ashtiani,K., Whitesell,L.J., Sunyaev,S., Berger,B.,
            Barabasi,A.L., Charloteaux,B., Hill,D.E., Hao,T., Roth,F.P.,
            Xia,Y., Walhout,A.J.M., Lindquist,S. and Vidal,M.
  TITLE     Widespread macromolecular interaction perturbations in human
            genetic disorders
  JOURNAL   Cell 161 (3), 647-660 (2015)
   PUBMED   25910212
REFERENCE   4  (bases 1 to 1967)
  AUTHORS   Gibbs,E.M., Feldman,E.L. and Dowling,J.J.
  TITLE     The role of MTMR14 in autophagy and in muscle disease
  JOURNAL   Autophagy 6 (6), 819-820 (2010)
   PUBMED   20595810
  REMARK    GeneRIF: This study provides the first in vivo evidence for a role
            of myotubularins, and in particular MTMR14, in the regulation of
            autophagy.
REFERENCE   5  (bases 1 to 1967)
  AUTHORS   Vergne,I., Roberts,E., Elmaoued,R.A., Tosch,V., Delgado,M.A.,
            Proikas-Cezanne,T., Laporte,J. and Deretic,V.
  TITLE     Control of autophagy initiation by phosphoinositide 3-phosphatase
            Jumpy
  JOURNAL   EMBO J 28 (15), 2244-2258 (2009)
   PUBMED   19590496
  REMARK    GeneRIF: The authors uncovered a key negative regulatory role in
            autophagy of a phosphatidylinositol 3-phosphate (PI3P) phosphatase
            Jumpy (MTMR14).
REFERENCE   6  (bases 1 to 1967)
  AUTHORS   Tosch,V., Rohde,H.M., Tronchere,H., Zanoteli,E., Monroy,N.,
            Kretz,C., Dondaine,N., Payrastre,B., Mandel,J.L. and Laporte,J.
  TITLE     A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating
            variant in centronuclear myopathy
  JOURNAL   Hum Mol Genet 15 (21), 3098-3106 (2006)
   PUBMED   17008356
  REMARK    GeneRIF: Study identified a novel phosphoinositide phosphatase,
            JUMPY in sporadic cases of centronuclear myopathy; two missense
            variants that affect the enzymatic function were found
            GeneRIF: C3orf29 encodes hJUMPY, a phosphoinositide 3-phosphate
            phosphatase that acts on PtdIns3P and PtdIns(3,5)P2. A missense
            mutation disrupts the catalytic activity in a patient with
            centronuclear myopathy.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC024163.3 and AC022382.4.
            
            Summary: This gene encodes a myotubularin-related protein. The
            encoded protein is a phosphoinositide phosphatase that specifically
            dephosphorylates phosphatidylinositol 3,5-biphosphate and
            phosphatidylinositol 3-phosphate. Mutations in this gene are
            correlated with autosomal dominant centronuclear myopathy.
            Alternate splicing results in multiple transcript variants. A
            pseudogene of this gene is found on chromosome 18.[provided by
            RefSeq, Apr 2010].
            
            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.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1965299,
                              SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-238               AC024163.3         131709-131946
            239-347             AC024163.3         144471-144579
            348-423             AC024163.3         150923-150998
            424-484             AC024163.3         151636-151696
            485-607             AC024163.3         153252-153374
            608-681             AC024163.3         154889-154962
            682-752             AC024163.3         159521-159591
            753-827             AC024163.3         160188-160262
            828-894             AC024163.3         165382-165448
            895-980             AC024163.3         166789-166874
            981-1057            AC024163.3         167092-167168
            1058-1094           AC024163.3         167415-167451
            1095-1165           AC024163.3         170025-170095
            1166-1224           AC024163.3         170900-170958
            1225-1363           AC024163.3         171148-171286
            1364-1967           AC022382.4         133137-133740       c
FEATURES             Location/Qualifiers
     source          1..1967
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.3"
     gene            1..1967
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /note="myotubularin related protein 14"
                     /db_xref="GeneID:64419"
                     /db_xref="HGNC:HGNC:26190"
                     /db_xref="MIM:611089"
     exon            1..238
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /inference="alignment:Splign:2.1.0"
     CDS             213..1547
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /EC_number="3.1.3.95"
                     /note="isoform 18 is encoded by transcript variant 18;
                     egg-derived tyrosine phosphatase homolog; jumpy;
                     NS5ATP4ABP1; phosphatidylinositol-3-phosphate phosphatase;
                     phosphatidylinositol-3,5-bisphosphate 3-phosphatase
                     MTMR14"
                     /codon_start=1
                     /product="phosphatidylinositol-3,5-bisphosphate
                     3-phosphatase MTMR14 isoform 18"
                     /protein_id="NP_001387461.1"
                     /db_xref="GeneID:64419"
                     /db_xref="HGNC:HGNC:26190"
                     /db_xref="MIM:611089"
                     /translation="MAAGPAALRFESTVQVSKLQDLIHRSKMARCRGRFVCPVILFKG
                     KHICRSATLAGWGELYGRSGYNYFFSGGADDAWADVEDVTEEDCALRSGDTHLFDKVR
                     GYDIKLLRYLSVKYICDLMVENKKVKFGMNVTSSEKVDKAQRYADFTLLSIPYPGCEF
                     FKEYKDRDYMAEGLIFNWKQDYVDAPLSIPDFLTHSLNIDWSQYQCWDLVQQTQNYLK
                     LLLSLVNSDDDSGLLVHCISGWDRTPLFISLLRLSLWADGLIHTSLKPTEILYLTVAY
                     DWFLFGHMLVDRLSKGEEIFFFCFNFLKHITSEEFSALKTQRRKSLPARDGGFTLEDI
                     CMLRRKDRGSTTSLGSDFSLVMESSPGATGSFTYEAVELVPAGAPTQAAWLAALSDRE
                     TRLQEVRSAFLAAYSSTVGLRAVAPSPSGAIGGLLEQFARGVGLRSISSNAL"
     exon            239..347
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /inference="alignment:Splign:2.1.0"
     exon            348..423
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /inference="alignment:Splign:2.1.0"
     exon            424..484
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /inference="alignment:Splign:2.1.0"
     exon            485..607
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /inference="alignment:Splign:2.1.0"
     exon            608..681
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /inference="alignment:Splign:2.1.0"
     exon            682..752
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /inference="alignment:Splign:2.1.0"
     exon            753..827
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /inference="alignment:Splign:2.1.0"
     exon            828..894
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /inference="alignment:Splign:2.1.0"
     exon            895..980
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /inference="alignment:Splign:2.1.0"
     exon            981..1057
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /inference="alignment:Splign:2.1.0"
     exon            1058..1094
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /inference="alignment:Splign:2.1.0"
     exon            1095..1165
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /inference="alignment:Splign:2.1.0"
     exon            1166..1224
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /inference="alignment:Splign:2.1.0"
     exon            1225..1363
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /inference="alignment:Splign:2.1.0"
     exon            1364..1967
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1939..1944
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /note="hexamer: AATAAA"
     polyA_site      1967
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /note="major polyA site"
ORIGIN      
        1 aggttctagt gtcggagttg ggtgcaggca ggtgccatgg gcccgcttga ggcacactga
       61 ggggacgcgg ggctgggcca tggccggcgc tcgggccgcc gccgccgctg cctcggcggg
      121 gtcctcggcc tcttcaggca accagccgcc tcaggagctg gggcttgggg agctgctgga
      181 ggagttctcc cggactcagt accgggccaa ggatggcagc gggaccggcg gctctaaggt
      241 ttgagagtac cgtacaggtg agcaagttgc aagacctcat ccaccgcagc aagatggccc
      301 ggtgcagagg acggtttgtc tgcccagtaa tcctgttcaa gggcaagcac atttgcaggt
      361 cggccacact ggctggatgg ggagagctgt atggacgctc aggctacaac tattttttct
      421 cagggggtgc agatgatgcc tgggcagatg tggaggacgt cacggaggag gactgtgctc
      481 ttcgaagtgg tgacacgcat ctttttgata aggtcagagg ctatgacatc aagctgcttc
      541 gatacctgtc agtcaaatac atctgtgacc tgatggtgga gaacaagaag gtgaagtttg
      601 gcatgaatgt aacctcctct gagaaggtgg acaaagccca gcgctatgcc gacttcactc
      661 tcctctccat cccgtatcca ggctgtgaat ttttcaagga atataaagat cgggattaca
      721 tggcagaagg gctcatattt aactggaagc aggactacgt tgatgcccca ttgagcatcc
      781 ccgacttcct gactcactct ctgaacattg actggagcca gtatcagtgt tgggatctgg
      841 tgcaacaaac acaaaactac ctgaagctgc tgctttcctt agttaacagt gatgatgaca
      901 gcgggctgct ggtacactgt atctcaggct gggatcggac ccccctcttc atctccctcc
      961 tgcgcctttc cttgtgggct gatgggctca tccacacgtc cctgaagccc actgagatcc
     1021 tctacctcac tgtggcctat gactggttcc tcttcgggca catgttggta gatcggctca
     1081 gcaaagggga ggagattttc ttcttctgct tcaatttttt gaagcatatt acctccgagg
     1141 agttctctgc tctgaagacc cagaggagga agagtttgcc agcccgggat ggaggcttca
     1201 ccctggaaga catctgcatg ctgagacgaa aggaccgtgg cagcaccacc agccttggca
     1261 gcgacttctc cctggtcatg gagagttccc caggagccac tgggagcttc acctatgagg
     1321 ccgtggagct ggtcccagca ggagcgccaa ctcaggcagc ttggcttgca gccctgagtg
     1381 atcgagagac tcggctgcag gaggtgcgct cagccttctt ggctgcgtac agcagcacag
     1441 tggggcttcg ggcagtagcc cccagtcctt ccggtgccat cgggggcctg ctggagcaat
     1501 ttgcccgtgg tgttggactc cggagcatca gcagcaatgc cttgtgaaga agccagccca
     1561 tgacattttc ctgctcctct ctcagctgag cccttagcag agaatcaaag ccatgcctgg
     1621 ccgaaggggt acttccaggt caggggaaat ttcagtcccc catctccatc atgaacatgg
     1681 cagccccaaa gctgagcaag gccaaagaca gggttttcca acccccagcc tcttgactgg
     1741 tgaccaccac cccttcttgt cactgtctcc cacccacccc atctttgctg ggattcccat
     1801 caactctcag aactgtgtgg ggtttccctg gggccttgtg gaagccatga cttcacaaag
     1861 accctacctg tcagttcttg tttctgggga ggagggatca cctgcactga gaatgaggca
     1921 gtttgacaca gatcacaaaa taaaatcaaa gtctttttga atagcca
//
