LOCUS       NM_004686               5110 bp    mRNA    linear   PRI 20-OCT-2024
DEFINITION  Homo sapiens myotubularin related protein 7 (MTMR7), mRNA.
ACCESSION   NM_004686 XM_044727
VERSION     NM_004686.5
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 5110)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 5110)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 5110)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5110)
  AUTHORS   Chen,S., Fragoza,R., Klei,L., Liu,Y., Wang,J., Roeder,K., Devlin,B.
            and Yu,H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   5  (bases 1 to 5110)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (bases 1 to 5110)
  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   7  (bases 1 to 5110)
  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    Review article
REFERENCE   8  (bases 1 to 5110)
  AUTHORS   Mochizuki,Y. and Majerus,P.W.
  TITLE     Characterization of myotubularin-related protein 7 and its binding
            partner, myotubularin-related protein 9
  JOURNAL   Proc Natl Acad Sci U S A 100 (17), 9768-9773 (2003)
   PUBMED   12890864
REFERENCE   9  (bases 1 to 5110)
  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   10 (bases 1 to 5110)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK316283.1, AC124074.2,
            AK316022.1, BC130579.1 and AW014721.1.
            
            On Nov 22, 2018 this sequence version replaced NM_004686.4.
            
            Summary: This gene encodes a member of the myotubularin family of
            tyrosine/dual-specificity phosphatases. The encoded protein is
            characterized by four distinct domains that are conserved among all
            members of the myotubularin family: the glucosyltransferase,
            Rab-like GTPase activator and myotubularins domain, the Rac-induced
            recruitment domain, the protein tyrosine phosphatases and
            dual-specificity phosphatases domain and the suppressor of
            variegation 3-9, enhancer-of-zeste, and trithorax interaction
            domain. This protein dephosphorylates the target substrates
            phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. A
            pseudogene of this gene is found on chromosome 5. [provided by
            RefSeq, Mar 2009].
            
            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 :: SRR1660805.71939.1,
                                           SRR1660803.76648.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1966682,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000180173.10/ ENSP00000180173.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-73                AK316283.1         1-73
            74-74               AC124074.2         38149-38149
            75-188              AK316283.1         75-188
            189-189             AC124074.2         78292-78292
            190-1254            AK316022.1         180-1244
            1255-3402           BC130579.1         1221-3368
            3403-5103           AC124074.2         152926-154626
            5104-5107           AW014721.1         16-19               c
            5108-5110           AC124074.2         154631-154633
FEATURES             Location/Qualifiers
     source          1..5110
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p22"
     gene            1..5110
                     /gene="MTMR7"
                     /note="myotubularin related protein 7"
                     /db_xref="GeneID:9108"
                     /db_xref="HGNC:HGNC:7454"
                     /db_xref="MIM:603562"
     exon            1..83
                     /gene="MTMR7"
                     /inference="alignment:Splign:2.1.0"
     CDS             60..2042
                     /gene="MTMR7"
                     /EC_number="3.1.3.64"
                     /note="inositol 1,3-bisphosphate phosphatase;
                     phosphatidylinositol-3-phosphate phosphatase"
                     /codon_start=1
                     /product="phosphatidylinositol-3-phosphate phosphatase
                     MTMR7"
                     /protein_id="NP_004677.3"
                     /db_xref="CCDS:CCDS34851.1"
                     /db_xref="GeneID:9108"
                     /db_xref="HGNC:HGNC:7454"
                     /db_xref="MIM:603562"
                     /translation="MEHIRTPKVENVRLVDRVSPKKAALGTLYLTATHVIFVENSPDP
                     RKETWILHSQISTIEKQATTATGCPLLIRCKNFQIIQLIIPQERDCHDVYISLIRLAR
                     PVKYEELYCFSFNPMLDKEEREQGWVLIDLSEEYTRMGLPNHYWQLSDVNRDYRVCDS
                     YPTELYVPKSATAHIIVGSSKFRSRRRFPVLSYYYKDNHASICRSSQPLSGFSARCLE
                     DEQMLQAIRKANPGSDFVYVVDTRPKLNAMANRAAGKGYENEDNYSNIKFQFIGIENI
                     HVMRNSLQKMLEVCELKSPSMSDFLWGLENSGWLRHIKAIMDAGIFIAKAVSEEGASV
                     LVHCSDGWDRTAQVCSVASLLLDPHYRTLKGFMVLIEKDWISFGHKFNHRYGNLDGDP
                     KEISPVIDQFIECVWQLMEQFPCAFEFNERFLIHIQHHIYSCQFGNFLCNSQKERREL
                     KIQERTYSLWAHLWKNRADYLNPLFRADHSQTQGTLHLPTTPCNFMYKFWSGMYNRFE
                     KGMQPRQSVTDYLMAVKEETQQLEEELEALEERLEKIQKVQLNCTKVKSKQSEPSKHS
                     GFSTSDNSIANTPQDYSGNMKSFPSRSPSQGDEDSALILTQDNLKSSDPDLSANSDQE
                     SGVEDLSCRSPSGGEHAPSEDSGKDRDSDEAVFLTA"
     exon            84..206
                     /gene="MTMR7"
                     /inference="alignment:Splign:2.1.0"
     exon            207..369
                     /gene="MTMR7"
                     /inference="alignment:Splign:2.1.0"
     exon            370..527
                     /gene="MTMR7"
                     /inference="alignment:Splign:2.1.0"
     exon            528..656
                     /gene="MTMR7"
                     /inference="alignment:Splign:2.1.0"
     exon            657..791
                     /gene="MTMR7"
                     /inference="alignment:Splign:2.1.0"
     exon            792..924
                     /gene="MTMR7"
                     /inference="alignment:Splign:2.1.0"
     exon            925..1034
                     /gene="MTMR7"
                     /inference="alignment:Splign:2.1.0"
     exon            1035..1160
                     /gene="MTMR7"
                     /inference="alignment:Splign:2.1.0"
     exon            1161..1210
                     /gene="MTMR7"
                     /inference="alignment:Splign:2.1.0"
     exon            1211..1411
                     /gene="MTMR7"
                     /inference="alignment:Splign:2.1.0"
     exon            1412..1552
                     /gene="MTMR7"
                     /inference="alignment:Splign:2.1.0"
     exon            1553..1679
                     /gene="MTMR7"
                     /inference="alignment:Splign:2.1.0"
     exon            1680..5110
                     /gene="MTMR7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3686..3691
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTMR7"
                     /note="hexamer: AATAAA"
     polyA_site      3710
                     /gene="MTMR7"
                     /note="major polyA site"
     regulatory      3848..3853
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTMR7"
                     /note="hexamer: AATAAA"
     polyA_site      3870
                     /gene="MTMR7"
     regulatory      5087..5092
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTMR7"
                     /note="hexamer: AATAAA"
     polyA_site      5110
                     /gene="MTMR7"
                     /note="major polyA site"
ORIGIN      
        1 agaggcgcgc aggtgcgtga ggccgcgccc gcccgggacc ctgcagacgt gggccagcca
       61 tggagcacat ccgtacgccc aaggttgaaa atgtccgctt ggtagatcga gtgtctccta
      121 aaaaagcagc tctaggtact ttgtatttga cggctaccca tgtcatattc gtggaaaatt
      181 cacctgaccc aagaaaagaa acatggattc ttcacagtca gatttccacc attgagaaac
      241 aggcaacaac cgctaccgga tgccctctgc tgattcgctg caagaacttt cagataatac
      301 agctcatcat acctcaggaa agagattgcc acgacgtgta catctccctg atacgccttg
      361 caaggccagt gaaatatgag gagttatact gcttttcatt caaccccatg ctggataaag
      421 aagaaagaga gcaaggctgg gtgctgatcg atcttagtga agaatacacg cggatgggcc
      481 tccctaatca ttactggcag ctcagcgatg tgaatagaga ctacagagtc tgtgactctt
      541 atcctactga actgtacgtt cccaaatcgg ccacggcaca catcatagtg gggagttcca
      601 aattccggag tagacggcga tttcctgtcc tttcttacta ttataaagat aaccacgcct
      661 ccatctgccg gagcagccag cccctgtccg gcttcagtgc ccggtgccta gaggacgagc
      721 agatgctcca ggccattagg aaagccaatc caggaagtga cttcgtttat gtcgttgaca
      781 cccggcctaa acttaatgca atggcaaatc gtgctgcagg gaaaggctat gagaatgaag
      841 acaattattc caatatcaag tttcagttta tcgggataga gaacatccat gtcatgagga
      901 acagtctgca gaaaatgctg gaagtgtgtg aacttaaatc tccctccatg agtgatttcc
      961 tgtggggtct ggagaactct ggctggttaa ggcacattaa agccataatg gatgcaggaa
     1021 tcttcattgc aaaggcagtg tcagaggaag gggcaagtgt gcttgttcac tgttctgatg
     1081 gctgggacag gaccgctcag gtgtgctcgg tggcaagcct gctgctggac cctcactacc
     1141 ggactctgaa gggcttcatg gtattaattg aaaaggactg gatttccttt ggtcataagt
     1201 ttaatcaccg atatggcaat ctagatggtg acccaaaaga aatctctcca gttattgacc
     1261 agttcattga gtgtgtttgg cagttaatgg aacaatttcc ctgtgccttt gagttcaatg
     1321 agaggttttt gattcacatt caacatcaca tttattcctg ccagtttgga aacttcctat
     1381 gtaacagcca aaaggagaga cgagaactca agattcaaga aagaacatac tcattatggg
     1441 ctcacctgtg gaagaatcgg gccgactacc tgaatcctct gtttagagct gatcacagcc
     1501 agactcaggg aacccttcat ctccctacaa caccatgtaa cttcatgtac aagttttgga
     1561 gtggaatgta taaccgcttt gaaaagggga tgcagccccg acagtcagtt acagattacc
     1621 taatggcagt gaaggaagaa actcagcagc tagaggaaga actagaggcc ctggaagaaa
     1681 ggctggaaaa aattcaaaag gtccagttaa attgcactaa ggtgaagagt aagcaaagtg
     1741 agcccagcaa gcactcaggg ttttctacct cagacaacag catagccaac actccccagg
     1801 attacagtgg gaatatgaaa tcatttccat cccggagccc ttcacaaggc gatgaagatt
     1861 ctgctctgat tctaacccaa gacaatctga aaagttcaga tccagatctg tcagccaaca
     1921 gtgaccaaga gtccggggtg gaggatttga gctgtcggtc tccaagtggt ggtgagcatg
     1981 caccgagtga agatagtggc aaggaccggg attctgatga agccgtgttt ctcactgcct
     2041 gaagtttccc tttggagttc caaagtaaag gacacataag caacacttcc aaaaacaagg
     2101 gaacaaggtg gtttattgta aaaacaggaa atggtgcatg tcattgagaa ctactttaat
     2161 gcagctatga aaagggaaaa aagtgcccag ttcttgattt cttagatact gaagaggacg
     2221 tagtcatttc atttatcaaa tataaggaaa attattcacc attttgaagc tcaccctaga
     2281 ctatgaaaat tatattcact gcagagcaat tacttctgtc attacctgaa gtgatcagta
     2341 tctatcttcc ttgtcatagc atgcatctct caaaaagcct ccactccttt ccctcacatc
     2401 tgtgatcatc atgattcttt tagttcactt ctagatgcat attttgtgtt ttctaaagca
     2461 tctgacatta tcctcctttc cgaccctctt atacatattt ctaaaaacag gcacattggt
     2521 gagatgcacc ctttttagtt aatagatgca ttcctaagga gcttttaatt gcttatcttt
     2581 caggcataat catcacttta acttttcctt ggagcatata ttttgaattg tgagaataat
     2641 tttgttgctt ttctctgaga tctatagtct gtttctcctc attatttaaa aatgctaaac
     2701 cttgtatctc actttttctc taacactgat ttaatagcta acgaggtaga agcaacattc
     2761 attctcctgg tcttacatat gaatttaagt atcagctttc ttgtaataac cttttattac
     2821 tgttctagag actacactac cgacagtgtg ggccagccac cagcctgatc tcaaagtatc
     2881 acattataaa gttagtagat aaaacatctg tgagtgaaaa tccagtttca agaaccagag
     2941 aattgggttg tcatgtctgt ttaatgaagg gaataggttt tgtaatctat cattttagaa
     3001 attatgtaac tggctaatat ggtttaatta accttagtaa catctcatga ccactgactg
     3061 ctgaaagttc tgaaaagaat ttttgttttg ttacactgca catttaaggg agagtccctc
     3121 ccctatctta tgagttaaaa aagacttcac taggtgacct aaattaaact tagtggggaa
     3181 aagtggccat gtttggacat aaataaatgg tattcacact gtatggtttt aatatattag
     3241 tacattctag aatgtaaaag gattaaactt tacaatttag atcaatattt tgaatatgtg
     3301 aaaggattaa tttaaacttt acaatttaca tcaatatttt gaatatctga ttttttttaa
     3361 tgggagaatt attacatttc gctgaaatga ggacgagggc aagaaagcaa cattgctgat
     3421 ctctctagta tgaaagattt ggagggagtg ttgcaatata tataaatgaa aacatttaat
     3481 tgtgttcatc atatttaaaa atatagaata tattagagaa ctgtgattta aaagtactgt
     3541 taatgtaaaa aataaagcaa gtgtaattaa ttctttcaga atataaaatt tgggcattct
     3601 ctgctgagca gttcccaaat taagtacaag gaatgtttat tcattttctg caatatacta
     3661 tatgtaatag ggaatacctt gctaaaataa aacttaggat atagtggtaa tggctttcac
     3721 atttttataa cataacataa ctcacttcac aaccttcttg gagctgtcca ctcttagaaa
     3781 ctctgttgcc taatattgag gatgtggctt taatttcttc cgtttgacag tgtatgtcta
     3841 taaaaacaat aaacattttt taaaaaatga caaagtatct atgccaaaca gcactatgct
     3901 tttatttgaa aagcaaatag tataaatatt tgatgtttta aaatgtagtt ttttaatatg
     3961 acaacttcca tatcagagtc ataaactttt agtcccctca acttttttac aagacagaca
     4021 ttataattta tgtaacatgt tcgtctgctt attagaagtt aacctagcac tgagatttat
     4081 ataaaaggtt acatttattg cttattaaaa ctttactgta ctttcacaga ttcttcagag
     4141 catggctaac ccaacaagac taaaatatcc ccaacaagac taaaatatct aataatcaaa
     4201 cattaatcag gaagtgtttt attgagagca gtggtttaaa gcatagggaa taatccagta
     4261 taaaactgat ttgaggcata ttacttccca attagtaata tatagaatgc aagtaattta
     4321 ttttttaaag ttgatatgaa ataaataggt aagaattttg accatgaccc agcaaatcag
     4381 taactgagct ttttatagaa tggaaggtga tgatcagaga cagaaaccat agaataaatt
     4441 tttattcttt aagagcacat tagtttactt tcttctccta aaaatgaatc tgagctgtcc
     4501 ttcaatttaa gcatatatat gtgtcaagca ccctctattc tgatataaat ttcctagtct
     4561 caatttatgc ctagaaattt ctttcaactt tgaagtgggt ctgtttagtt tatatctcac
     4621 tgattgattg atttagaatt ttcttctatt ttaagatatt aacctttaaa tctctaccta
     4681 tgacaaattc gtacactgat tagcctagta actcctaagt attcctcttt aattctgatt
     4741 tctatctcat cttgtaaaat cagaatacaa actttcacat gcatttcatt tttcctgtgg
     4801 cactgcttct ccgatgtgac caatttttat gaagaaaata tatagccata aaattagaaa
     4861 aaatggtcac ttaatctctg ttgcaaaaac agaacccaca ttcatacggg catattcaaa
     4921 tgcagattct tttcatcgtg ggtgacatac ataaccttta tgtaaactga tttgtctatt
     4981 tgttaaatgc agataactga tcacactgct ctgtttcatg actgggttgt aacaaggtta
     5041 tccaatgaat ggtatagaat gaaactggga tagttcaact ttaaagaata aaaaacactg
     5101 agatgaacta
//
