LOCUS       NM_017677               2660 bp    mRNA    linear   PRI 20-OCT-2024
DEFINITION  Homo sapiens myotubularin related protein 8 (MTMR8), mRNA.
ACCESSION   NM_017677
VERSION     NM_017677.4
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 2660)
  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 2660)
  AUTHORS   Allen,E.A., Amato,C., Fortier,T.M., Velentzas,P., Wood,W. and
            Baehrecke,E.H.
  TITLE     A conserved myotubularin-related phosphatase regulates autophagy by
            maintaining autophagic flux
  JOURNAL   J Cell Biol 219 (11) (2020)
   PUBMED   32915229
REFERENCE   3  (bases 1 to 2660)
  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 2660)
  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 2660)
  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 2660)
  AUTHORS   Yoo,K.Y., Son,J.Y., Lee,J.U., Shin,W., Im,D.W., Kim,S.J., Ryu,S.E.
            and Heo,Y.S.
  TITLE     Structure of the catalytic phosphatase domain of MTMR8:
            implications for dimerization, membrane association and reversible
            oxidation
  JOURNAL   Acta Crystallogr D Biol Crystallogr 71 (Pt 7), 1528-1539 (2015)
   PUBMED   26143924
  REMARK    GeneRIF: Here, the crystal structure of the phosphatase domain of
            MTMR8 is reported.
REFERENCE   7  (bases 1 to 2660)
  AUTHORS   Labuda,D., Yotova,V., Lefebvre,J.F., Moreau,C., Utermann,G. and
            Williams,S.M.
  TITLE     X-linked MTMR8 diversity and evolutionary history of sub-Saharan
            populations
  JOURNAL   PLoS One 8 (11), e80710 (2013)
   PUBMED   24282552
  REMARK    GeneRIF: East African population that gave rise to non-Africans
            underwent a selective sweep affecting the subcentromeric region
            where MTMR8 is located
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 2660)
  AUTHORS   Zou,J., Zhang,C., Marjanovic,J., Kisseleva,M.V., Majerus,P.W. and
            Wilson,M.P.
  TITLE     Myotubularin-related protein (MTMR) 9 determines the enzymatic
            activity, substrate specificity, and role in autophagy of MTMR8
  JOURNAL   Proc Natl Acad Sci U S A 109 (24), 9539-9544 (2012)
   PUBMED   22647598
REFERENCE   9  (bases 1 to 2660)
  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   10 (bases 1 to 2660)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA691850.1, BC012399.1 and
            AL356317.8.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_017677.3.
            
            Summary: This gene encodes a member of the myotubularin-related
            family and is part of the MTMR6 subgroup. Family members are
            dual-specificity phosphatases and the encoded protein contains a
            phosphoinositide-binding domain (PID) and a SET-interacting domain
            (SID). Defects in other family members have been found in
            myotubular myopathic diseases. [provided by RefSeq, Mar 2010].
            
            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 :: BC012399.1, SRR1660803.207601.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000374852.4/ ENSP00000363985.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-21                DA691850.1         2-22
            22-2506             BC012399.1         1-2485
            2507-2507           AL356317.8         53750-53750         c
            2508-2660           BC012399.1         2487-2639
FEATURES             Location/Qualifiers
     source          1..2660
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq11.2"
     gene            1..2660
                     /gene="MTMR8"
                     /note="myotubularin related protein 8"
                     /db_xref="GeneID:55613"
                     /db_xref="HGNC:HGNC:16825"
                     /db_xref="MIM:301061"
     exon            1..113
                     /gene="MTMR8"
                     /inference="alignment:Splign:2.1.0"
     CDS             90..2204
                     /gene="MTMR8"
                     /EC_number="3.1.3.95"
                     /note="phosphatidylinositol-3-phosphate phosphatase;
                     phosphatidylinositol-3,5-bisphosphate 3-phosphatase"
                     /codon_start=1
                     /product="phosphatidylinositol-3,5-bisphosphate
                     3-phosphatase MTMR8"
                     /protein_id="NP_060147.2"
                     /db_xref="CCDS:CCDS14379.1"
                     /db_xref="GeneID:55613"
                     /db_xref="HGNC:HGNC:16825"
                     /db_xref="MIM:301061"
                     /translation="MDHITVPKVENVKLVDRYVSKKPANGILYLTATHLIYVEASGAA
                     RKETWIALHHIATVEKLPITSLGCPLTLRCKNFRVAHFVLDSDLVCHEVYISLLKLSQ
                     PALPEDLYAFSYNPKSSKEMRESGWKLIDPISDFGRMGIPNRNWTITDANRNYEICST
                     YPPEIVVPKSVTLGTVVGSSKFRSKERVPVLSYLYKENNAAICRCSQPLSGFYTRCVD
                     DELLLEAISQTNPGSQFMYVVDTRPKLNAMANRAAGKGYENEDNYANIRFRFMGIENI
                     HVMRSSLQKLLEVCELKTPTMSEFLSGLESSGWLRHIKAIMDAGIFITKAVKVEKASV
                     LVHCSDGWDRTAQVCSVASILLDPFYRTFKGLMILIEKEWISMGHKFSQRCGHLDGDS
                     KEVSPIFTQFLDCIWQLMEQFPCAFEFNENFLLEIHDHVFSCQFGNFLGNCQKDREDL
                     RVYEKTHSVWPFLVQRKPDFRNPLYKGFTMYGVLNPSTVPYNIQFWCGMYNRFDKGLQ
                     PKQSMLESLLEIKKQRAMLETDVHELEKKLKVRDEPPEEICTCSQLGNILSQHLGSPL
                     TNPLGFMGINGDLNTLMENGTLSREGGLRAQMDQVKSQGADLHHNCCEIVGSLRAINI
                     SGDVGISEAMGISGDMCTFEATGFSKDLGICGAMDISEATGISGNLGISEARGFSGDM
                     GILGDTGISKASTKEADYSKHQ"
     exon            114..236
                     /gene="MTMR8"
                     /inference="alignment:Splign:2.1.0"
     exon            237..399
                     /gene="MTMR8"
                     /inference="alignment:Splign:2.1.0"
     exon            400..557
                     /gene="MTMR8"
                     /inference="alignment:Splign:2.1.0"
     exon            558..686
                     /gene="MTMR8"
                     /inference="alignment:Splign:2.1.0"
     exon            687..821
                     /gene="MTMR8"
                     /inference="alignment:Splign:2.1.0"
     exon            822..954
                     /gene="MTMR8"
                     /inference="alignment:Splign:2.1.0"
     exon            955..1064
                     /gene="MTMR8"
                     /inference="alignment:Splign:2.1.0"
     exon            1065..1190
                     /gene="MTMR8"
                     /inference="alignment:Splign:2.1.0"
     exon            1191..1240
                     /gene="MTMR8"
                     /inference="alignment:Splign:2.1.0"
     exon            1241..1441
                     /gene="MTMR8"
                     /inference="alignment:Splign:2.1.0"
     exon            1442..1570
                     /gene="MTMR8"
                     /inference="alignment:Splign:2.1.0"
     exon            1571..1697
                     /gene="MTMR8"
                     /inference="alignment:Splign:2.1.0"
     exon            1698..2660
                     /gene="MTMR8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2639..2644
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTMR8"
                     /note="hexamer: AATAAA"
     polyA_site      2660
                     /gene="MTMR8"
                     /note="major polyA site"
ORIGIN      
        1 gaaacccggg ttgaggcagg aggcggctag accggtggcg gcggcatctg gagtagcact
       61 gagatcttcc ggtggcggga actgcagtca tggatcatat tacggtaccc aaggtagaaa
      121 acgtgaaatt ggtggatcgt tatgtgagta agaaaccagc taatgggatt ctttatctta
      181 ctgcaaccca cctgatctat gtggaggctt caggtgcagc ccggaaagaa acatggattg
      241 cactccatca cattgccact gtggagaagt tacccatcac tagcctgggt tgtcccctga
      301 ccctccgctg caagaatttc cgggtggccc actttgtttt agattctgac cttgtgtgcc
      361 atgaggttta tatttcactg ctcaagcttt ctcagccagc attacctgaa gatctttatg
      421 ctttttctta taatcccaaa tcctcaaaag agatgaggga aagtggatgg aaactgattg
      481 acccaatatc agactttggg cgtatgggaa tacccaacag aaactggacc ataacagatg
      541 ccaacagaaa ctatgagata tgcagcacct accctcctga aatagtggtt cctaaatctg
      601 ttaccttggg aacggtggtt ggaagttcaa agttcagaag taaagaacgt gtccctgtgc
      661 tctcctacct ctacaaagag aacaatgctg ccatttgccg ctgtagccag cctctctctg
      721 gattttacac tcgctgtgta gatgatgagc tcttgttgga ggccattagc caaacaaacc
      781 cagggagcca gtttatgtat gttgtagaca caagaccaaa gttgaatgcc atggccaacc
      841 gagcagctgg gaaggggtat gaaaatgaag acaactatgc caacattcgc ttcagattca
      901 tgggcattga gaacatccat gtaatgcgga gcagtctgca gaaactcttg gaagtttgtg
      961 aattgaaaac tccaacaatg agtgaatttc ttagcggcct ggagagctca gggtggttaa
     1021 gacacattaa agctattatg gatgctggaa ttttcattac aaaggcagtg aaggtagaaa
     1081 aggccagtgt cttagtccat tgttctgatg gatgggaccg cacagcacaa gtctgctcag
     1141 tggctagcat cctcctagat ccattttata ggacattcaa aggactcatg atcttgatag
     1201 agaaggaatg gatatccatg ggccacaagt tttcccaaag gtgtggccac ctcgatgggg
     1261 actctaaaga agtgtcccct atcttcaccc agttcctaga ctgtatctgg caattaatgg
     1321 aacagtttcc ctgtgccttt gagtttaatg aaaacttcct gctggagatt catgaccatg
     1381 ttttctcctg ccagtttgga aacttccttg gtaactgcca gaaggatcgg gaagatctaa
     1441 gagtctatga gaaaacacat tctgtgtggc ctttcttggt tcagaggaaa ccagacttca
     1501 ggaaccctct ctataaaggc ttcactatgt atggggtact caatcctagt actgtgccct
     1561 acaacattca gttctggtgt gggatgtata accgctttga caaagggctg cagcccaagc
     1621 agagtatgct agagagcctc ctggaaatta agaaacagag agcaatgctg gagacagatg
     1681 tgcatgaact agaaaagaaa ctaaaagtcc gtgatgagcc accagaagag atctgtacct
     1741 gctctcaatt aggaaacata ttatcccagc atctgggaag tcctttgacc aatcctcttg
     1801 gctttatggg tatcaatgga gacctgaata ccctgatgga gaatggcacc ctatccaggg
     1861 aaggaggcct ccgagctcag atggatcaag taaaaagcca gggtgcagac ctccaccata
     1921 actgttgtga gattgtgggc agccttaggg ccataaatat ctctggggat gtgggcatct
     1981 ctgaggccat gggcatctct ggagacatgt gcacctttga ggctacgggc ttctccaaag
     2041 acttaggaat ctgtggggcc atggacatct ctgaggccac tggcatctct ggaaacttgg
     2101 gtatttctga ggccaggggt ttctctgggg acatgggcat cttgggggac acaggcatct
     2161 ccaaggccag caccaaggag gcagactact ccaagcatca gtgagttagt tactcatctt
     2221 ccatgctagg tatacctaca gcagctacaa tgattcttgt cccagagagg gctatgctgc
     2281 ttttccaatt ggtttaagtg ggtgaagcca gggcacccct ctccccactt aagtctggaa
     2341 gggaattact ttactgatta agtgaccaat atgttcatat taagcagtac agagtgtagg
     2401 caagagaaag aatatgttat tgttctaaaa tgggatttaa ctatagaaat gttgcctctc
     2461 agctgagaca catattaagc tggttctact gtctgttttc cttaatgatc gacctgccct
     2521 attttctatc ctcactgcag taatgtgaaa gtgaagtgga aatattgtca caatggtcaa
     2581 taatgaccct tttgagggta tggagagatg gtatacagca ggtaactgtg aattgcagaa
     2641 taaattgaaa gaaaatttta
//
