LOCUS       NM_001077525            2452 bp    mRNA    linear   PRI 20-OCT-2024
DEFINITION  Homo sapiens myotubularin related protein 14 (MTMR14), transcript
            variant 2, mRNA.
ACCESSION   NM_001077525
VERSION     NM_001077525.3
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 2452)
  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 2452)
  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 2452)
  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 2452)
  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 2452)
  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 2452)
  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 DC316206.1 and BC035690.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001077525.2.
            
            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].
            
            Transcript Variant: This variant (2) represents the longest
            transcript and it encodes the longest protein (isoform 2).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC035690.1, SRR7346977.961165.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000296003.9/ ENSP00000296003.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-16                DC316206.1         74-89
            17-2452             BC035690.1         1-2436
FEATURES             Location/Qualifiers
     source          1..2452
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.3"
     gene            1..2452
                     /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             80..2032
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /EC_number="3.1.3.95"
                     /note="isoform 2 is encoded by transcript variant 2;
                     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 2"
                     /protein_id="NP_001070993.1"
                     /db_xref="CCDS:CCDS43043.1"
                     /db_xref="GeneID:64419"
                     /db_xref="HGNC:HGNC:26190"
                     /db_xref="MIM:611089"
                     /translation="MAGARAAAAAASAGSSASSGNQPPQELGLGELLEEFSRTQYRAK
                     DGSGTGGSKVERIEKRCLELFGRDYCFSVIPNTNGDICGHYPRHIVFLEYESSEKEKD
                     TFESTVQVSKLQDLIHRSKMARCRGRFVCPVILFKGKHICRSATLAGWGELYGRSGYN
                     YFFSGGADDAWADVEDVTEEDCALRSGDTHLFDKVRGYDIKLLRYLSVKYICDLMVEN
                     KKVKFGMNVTSSEKVDKAQRYADFTLLSIPYPGCEFFKEYKDRDYMAEGLIFNWKQDY
                     VDAPLSIPDFLTHSLNIDWSQYQCWDLVQQTQNYLKLLLSLVNSDDDSGLLVHCISGW
                     DRTPLFISLLRLSLWADGLIHTSLKPTEILYLTVAYDWFLFGHMLVDRLSKGEEIFFF
                     CFNFLKHITSEEFSALKTQRRKSLPARDGGFTLEDICMLRRKDRGSTTSLGSDFSLVM
                     ESSPGATGSFTYEAVELVPAGAPTQAAWRKSHSSSPQSVLWNRPQPSEDRLPSQQGLA
                     EARSSSSSSSNHSDNFFRMGSSPLEVPKPRSVDHPLPGSSLSTDYGSWQMVTGCGSIQ
                     ERAVLHTDSSLPFSFPDELPNSCLLAALSDRETRLQEVRSAFLAAYSSTVGLRAVAPS
                     PSGAIGGLLEQFARGVGLRSISSNAL"
     exon            239..387
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /inference="alignment:Splign:2.1.0"
     exon            388..496
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /inference="alignment:Splign:2.1.0"
     exon            497..572
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /inference="alignment:Splign:2.1.0"
     exon            573..633
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /inference="alignment:Splign:2.1.0"
     exon            634..756
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /inference="alignment:Splign:2.1.0"
     exon            757..830
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /inference="alignment:Splign:2.1.0"
     exon            831..901
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /inference="alignment:Splign:2.1.0"
     exon            902..976
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /inference="alignment:Splign:2.1.0"
     exon            977..1043
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /inference="alignment:Splign:2.1.0"
     exon            1044..1129
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /inference="alignment:Splign:2.1.0"
     exon            1130..1206
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /inference="alignment:Splign:2.1.0"
     exon            1207..1243
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /inference="alignment:Splign:2.1.0"
     exon            1244..1314
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /inference="alignment:Splign:2.1.0"
     exon            1315..1373
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /inference="alignment:Splign:2.1.0"
     exon            1374..1512
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /inference="alignment:Splign:2.1.0"
     exon            1513..1692
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /inference="alignment:Splign:2.1.0"
     exon            1693..1848
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /inference="alignment:Splign:2.1.0"
     exon            1849..2452
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2424..2429
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /note="hexamer: AATAAA"
     polyA_site      2452
                     /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 tgagcgcatt gagaagagat gtctggagct gtttggccga gactactgtt tcagcgtgat
      301 tccaaacacg aatggggata tctgtggcca ctatccccgg cacatcgtgt tcctggagta
      361 tgagagttct gagaaggaga aagacacgtt tgagagtacc gtacaggtga gcaagttgca
      421 agacctcatc caccgcagca agatggcccg gtgcagagga cggtttgtct gcccagtaat
      481 cctgttcaag ggcaagcaca tttgcaggtc ggccacactg gctggatggg gagagctgta
      541 tggacgctca ggctacaact attttttctc agggggtgca gatgatgcct gggcagatgt
      601 ggaggacgtc acggaggagg actgtgctct tcgaagtggt gacacgcatc tttttgataa
      661 ggtcagaggc tatgacatca agctgcttcg atacctgtca gtcaaataca tctgtgacct
      721 gatggtggag aacaagaagg tgaagtttgg catgaatgta acctcctctg agaaggtgga
      781 caaagcccag cgctatgccg acttcactct cctctccatc ccgtatccag gctgtgaatt
      841 tttcaaggaa tataaagatc gggattacat ggcagaaggg ctcatattta actggaagca
      901 ggactacgtt gatgccccat tgagcatccc cgacttcctg actcactctc tgaacattga
      961 ctggagccag tatcagtgtt gggatctggt gcaacaaaca caaaactacc tgaagctgct
     1021 gctttcctta gttaacagtg atgatgacag cgggctgctg gtacactgta tctcaggctg
     1081 ggatcggacc cccctcttca tctccctcct gcgcctttcc ttgtgggctg atgggctcat
     1141 ccacacgtcc ctgaagccca ctgagatcct ctacctcact gtggcctatg actggttcct
     1201 cttcgggcac atgttggtag atcggctcag caaaggggag gagattttct tcttctgctt
     1261 caattttttg aagcatatta cctccgagga gttctctgct ctgaagaccc agaggaggaa
     1321 gagtttgcca gcccgggatg gaggcttcac cctggaagac atctgcatgc tgagacgaaa
     1381 ggaccgtggc agcaccacca gccttggcag cgacttctcc ctggtcatgg agagttcccc
     1441 aggagccact gggagcttca cctatgaggc cgtggagctg gtcccagcag gagcgccaac
     1501 tcaggcagct tggaggaaga gccactcatc ctctccacag agtgtcctct ggaaccggcc
     1561 acaaccctca gaggaccgct tgccttccca gcaggggctg gcggaagcca ggtcttccag
     1621 ctcctcttcc tcaaaccatt ctgataactt tttcaggatg ggtagcagtc ccctggaggt
     1681 ccccaaaccc agatcagtgg accatcccct gcccggatcc tctctctcca cagactatgg
     1741 cagctggcag atggtaacgg gctgtggcag tattcaggag cgggctgtcc tgcacacaga
     1801 ctcctctctc cctttcagct tcccggatga gctccctaac agttgtctgc ttgcagccct
     1861 gagtgatcga gagactcggc tgcaggaggt gcgctcagcc ttcttggctg cgtacagcag
     1921 cacagtgggg cttcgggcag tagcccccag tccttccggt gccatcgggg gcctgctgga
     1981 gcaatttgcc cgtggtgttg gactccggag catcagcagc aatgccttgt gaagaagcca
     2041 gcccatgaca ttttcctgct cctctctcag ctgagccctt agcagagaat caaagccatg
     2101 cctggccgaa ggggtacttc caggtcaggg gaaatttcag tcccccatct ccatcatgaa
     2161 catggcagcc ccaaagctga gcaaggccaa agacagggtt ttccaacccc cagcctcttg
     2221 actggtgacc accacccctt cttgtcactg tctcccaccc accccatctt tgctgggatt
     2281 cccatcaact ctcagaactg tgtggggttt ccctggggcc ttgtggaagc catgacttca
     2341 caaagaccct acctgtcagt tcttgtttct ggggaggagg gatcacctgc actgagaatg
     2401 aggcagtttg acacagatca caaaataaaa tcaaagtctt tttgaatagc ca
//
