LOCUS       NM_018116               2422 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens misato mitochondrial distribution and morphology
            regulator 1 (MSTO1), transcript variant 1, mRNA.
ACCESSION   NM_018116
VERSION     NM_018116.4
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 2422)
  AUTHORS   Gerber,S., Lessard,L., Rouzier,C., Ait-El-Mkadem Saadi,S.,
            Ameli,R., Thobois,S., Abouaf,L., Bouhour,F., Kaplan,J., Putoux,A.,
            Pegat,A. and Rozet,J.M.
  TITLE     Autosomal recessive pathogenic MSTO1 variants in hereditary optic
            atrophy
  JOURNAL   EMBO Mol Med 15 (8), e16090 (2023)
   PUBMED   37431816
  REMARK    GeneRIF: Autosomal recessive pathogenic MSTO1 variants in
            hereditary optic atrophy.
REFERENCE   2  (bases 1 to 2422)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   3  (bases 1 to 2422)
  AUTHORS   Jiao,Y., Kuang,S., Yang,S. and Han,X.
  TITLE     Evidence of motor axon or motor neuron damage in a Chinese patient
            with compound heterozygous MSTO1 variants
  JOURNAL   Acta Neurol Belg 121 (3), 795-797 (2021)
   PUBMED   33222031
  REMARK    GeneRIF: Evidence of motor axon or motor neuron damage in a Chinese
            patient with compound heterozygous MSTO1 variants.
REFERENCE   4  (bases 1 to 2422)
  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   5  (bases 1 to 2422)
  AUTHORS   Donkervoort,S., Sabouny,R., Yun,P., Gauquelin,L., Chao,K.R., Hu,Y.,
            Al Khatib,I., Topf,A., Mohassel,P., Cummings,B.B., Kaur,R.,
            Saade,D., Moore,S.A., Waddell,L.B., Farrar,M.A., Goodrich,J.K.,
            Uapinyoying,P., Chan,S.H.S., Javed,A., Leach,M.E., Karachunski,P.,
            Dalton,J., Medne,L., Harper,A., Thompson,C., Thiffault,I.,
            Specht,S., Lamont,R.E., Saunders,C., Racher,H., Bernier,F.P.,
            Mowat,D., Witting,N., Vissing,J., Hanson,R., Coffman,K.A.,
            Hainlen,M., Parboosingh,J.S., Carnevale,A., Yoon,G., Schnur,R.E.,
            Boycott,K.M., Mah,J.K., Straub,V., Foley,A.R., Innes,A.M.,
            Bonnemann,C.G. and Shutt,T.E.
  CONSRTM   Care4Rare Canada Consortium
  TITLE     MSTO1 mutations cause mtDNA depletion, manifesting as muscular
            dystrophy with cerebellar involvement
  JOURNAL   Acta Neuropathol 138 (6), 1013-1031 (2019)
   PUBMED   31463572
  REMARK    GeneRIF: MSTO1 mutations cause mtDNA depletion, manifesting as
            muscular dystrophy with cerebellar involvement.
REFERENCE   6  (bases 1 to 2422)
  AUTHORS   Nasca,A., Scotton,C., Zaharieva,I., Neri,M., Selvatici,R.,
            Magnusson,O.T., Gal,A., Weaver,D., Rossi,R., Armaroli,A., Pane,M.,
            Phadke,R., Sarkozy,A., Muntoni,F., Hughes,I., Cecconi,A.,
            Hajnoczky,G., Donati,A., Mercuri,E., Zeviani,M., Ferlini,A. and
            Ghezzi,D.
  TITLE     Recessive mutations in MSTO1 cause mitochondrial dynamics
            impairment, leading to myopathy and ataxia
  JOURNAL   Hum Mutat 38 (8), 970-977 (2017)
   PUBMED   28544275
  REMARK    GeneRIF: Recessive mutations in MSTO1 cause mitochondrial dynamics
            impairment, leading to myopathy and ataxia
REFERENCE   7  (bases 1 to 2422)
  AUTHORS   Jostins,L., Ripke,S., Weersma,R.K., Duerr,R.H., McGovern,D.P.,
            Hui,K.Y., Lee,J.C., Schumm,L.P., Sharma,Y., Anderson,C.A.,
            Essers,J., Mitrovic,M., Ning,K., Cleynen,I., Theatre,E.,
            Spain,S.L., Raychaudhuri,S., Goyette,P., Wei,Z., Abraham,C.,
            Achkar,J.P., Ahmad,T., Amininejad,L., Ananthakrishnan,A.N.,
            Andersen,V., Andrews,J.M., Baidoo,L., Balschun,T., Bampton,P.A.,
            Bitton,A., Boucher,G., Brand,S., Buning,C., Cohain,A., Cichon,S.,
            D'Amato,M., De Jong,D., Devaney,K.L., Dubinsky,M., Edwards,C.,
            Ellinghaus,D., Ferguson,L.R., Franchimont,D., Fransen,K.,
            Gearry,R., Georges,M., Gieger,C., Glas,J., Haritunians,T., Hart,A.,
            Hawkey,C., Hedl,M., Hu,X., Karlsen,T.H., Kupcinskas,L.,
            Kugathasan,S., Latiano,A., Laukens,D., Lawrance,I.C., Lees,C.W.,
            Louis,E., Mahy,G., Mansfield,J., Morgan,A.R., Mowat,C., Newman,W.,
            Palmieri,O., Ponsioen,C.Y., Potocnik,U., Prescott,N.J.,
            Regueiro,M., Rotter,J.I., Russell,R.K., Sanderson,J.D., Sans,M.,
            Satsangi,J., Schreiber,S., Simms,L.A., Sventoraityte,J.,
            Targan,S.R., Taylor,K.D., Tremelling,M., Verspaget,H.W., De Vos,M.,
            Wijmenga,C., Wilson,D.C., Winkelmann,J., Xavier,R.J., Zeissig,S.,
            Zhang,B., Zhang,C.K., Zhao,H., Silverberg,M.S., Annese,V.,
            Hakonarson,H., Brant,S.R., Radford-Smith,G., Mathew,C.G.,
            Rioux,J.D., Schadt,E.E., Daly,M.J., Franke,A., Parkes,M.,
            Vermeire,S., Barrett,J.C. and Cho,J.H.
  CONSRTM   International IBD Genetics Consortium (IIBDGC)
  TITLE     Host-microbe interactions have shaped the genetic architecture of
            inflammatory bowel disease
  JOURNAL   Nature 491 (7422), 119-124 (2012)
   PUBMED   23128233
REFERENCE   8  (bases 1 to 2422)
  AUTHORS   Kimura,M. and Okano,Y.
  TITLE     Human Misato regulates mitochondrial distribution and morphology
  JOURNAL   Exp Cell Res 313 (7), 1393-1404 (2007)
   PUBMED   17349998
  REMARK    GeneRIF: These results indicated that human Misato has a role(s) in
            mitochondrial distribution and morphology and that its unregulated
            expression leads to cell death.
REFERENCE   9  (bases 1 to 2422)
  AUTHORS   Kuryshev,V.Y., Vorobyov,E., Zink,D., Schmitz,J.,
            Rozhdestvensky,T.S., Munstermann,E., Ernst,U., Wellenreuther,R.,
            Moosmayer,P., Bechtel,S., Schupp,I., Horst,J., Korn,B., Poustka,A.
            and Wiemann,S.
  TITLE     An anthropoid-specific segmental duplication on human chromosome
            1q22
  JOURNAL   Genomics 88 (2), 143-151 (2006)
   PUBMED   16545939
REFERENCE   10 (bases 1 to 2422)
  AUTHORS   Miklos,G.L., Yamamoto,M., Burns,R.G. and Maleszka,R.
  TITLE     An essential cell division gene of Drosophila, absent from
            Saccharomyces, encodes an unusual protein with tubulin-like and
            myosin-like peptide motifs
  JOURNAL   Proc Natl Acad Sci U S A 94 (10), 5189-5194 (1997)
   PUBMED   9144213
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX537684.1, AK001366.1, AK222863.1 and AF272833.1.
            
            On Nov 26, 2019 this sequence version replaced NM_018116.3.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            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.
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match                 :: ENST00000245564.8/
                                                  ENSP00000245564.3
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression,
                                                  longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-23                BX537684.1         1-23
            24-1195             AK001366.1         1-1172
            1196-1314           AK222863.1         1170-1288
            1315-1921           AK001366.1         1292-1898
            1922-2422           AF272833.1         1846-2346
FEATURES             Location/Qualifiers
     source          1..2422
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q22"
     gene            1..2422
                     /gene="MSTO1"
                     /gene_synonym="LST005; MMYAT; MST"
                     /note="misato mitochondrial distribution and morphology
                     regulator 1"
                     /db_xref="GeneID:55154"
                     /db_xref="HGNC:HGNC:29678"
                     /db_xref="MIM:617619"
     exon            1..115
                     /gene="MSTO1"
                     /gene_synonym="LST005; MMYAT; MST"
                     /inference="alignment:Splign:2.1.0"
     CDS             32..1744
                     /gene="MSTO1"
                     /gene_synonym="LST005; MMYAT; MST"
                     /note="isoform a is encoded by transcript variant 1;
                     protein misato homolog 1; misato 1, mitochondrial
                     distribution and morphology regulator"
                     /codon_start=1
                     /product="protein misato homolog 1 isoform a"
                     /protein_id="NP_060586.2"
                     /db_xref="CCDS:CCDS1114.1"
                     /db_xref="GeneID:55154"
                     /db_xref="HGNC:HGNC:29678"
                     /db_xref="MIM:617619"
                     /translation="MAGGAREVLTLQLGHFAGFVGAHWWNQQDAALGRATDSKEPPGE
                     LCPDVLYRTGRTLHGQETYTPRLILMDLKGSLSSLKEEGGLYRDKQLDAAIAWQGKLT
                     THKEELYPKNPYLQDFLSAEGVLSSDGVWRVKSIPNGKGSSPLPTATTPKPLIPTEAS
                     IRVWSDFLRVHLHPRSICMIQKYNHDGEAGRLEAFGQGESVLKEPKYQEELEDRLHFY
                     VEECDYLQGFQILCDLHDGFSGVGAKAAELLQDEYSGRGIITWGLLPGPYHRGEAQRN
                     IYRLLNTAFGLVHLTAHSSLVCPLSLGGSLGLRPEPPVSFPYLHYDATLPFHCSAILA
                     TALDTVTVPYRLCSSPVSMVHLADMLSFCGKKVVTAGAIIPFPLAPGQSLPDSLMQFG
                     GATPWTPLSACGEPSGTRCFAQSVVLRGIDRACHTSQLTPGTPPPSALHACTTGEEIL
                     AQYLQQQQPGVMSSSHLLLTPCRVAPPYPHLFSSCSPPGMVLDGSPKGAAVESIPVFG
                     ALCSSSSLHQTLEALARDLTKLDLRRWASFMDAGVEHDDVAELLQELQSLAQCYQGGD
                     SLVD"
     exon            116..251
                     /gene="MSTO1"
                     /gene_synonym="LST005; MMYAT; MST"
                     /inference="alignment:Splign:2.1.0"
     exon            252..321
                     /gene="MSTO1"
                     /gene_synonym="LST005; MMYAT; MST"
                     /inference="alignment:Splign:2.1.0"
     exon            322..397
                     /gene="MSTO1"
                     /gene_synonym="LST005; MMYAT; MST"
                     /inference="alignment:Splign:2.1.0"
     exon            398..452
                     /gene="MSTO1"
                     /gene_synonym="LST005; MMYAT; MST"
                     /inference="alignment:Splign:2.1.0"
     exon            453..591
                     /gene="MSTO1"
                     /gene_synonym="LST005; MMYAT; MST"
                     /inference="alignment:Splign:2.1.0"
     exon            592..709
                     /gene="MSTO1"
                     /gene_synonym="LST005; MMYAT; MST"
                     /inference="alignment:Splign:2.1.0"
     exon            710..844
                     /gene="MSTO1"
                     /gene_synonym="LST005; MMYAT; MST"
                     /inference="alignment:Splign:2.1.0"
     exon            845..997
                     /gene="MSTO1"
                     /gene_synonym="LST005; MMYAT; MST"
                     /inference="alignment:Splign:2.1.0"
     exon            998..1129
                     /gene="MSTO1"
                     /gene_synonym="LST005; MMYAT; MST"
                     /inference="alignment:Splign:2.1.0"
     exon            1130..1314
                     /gene="MSTO1"
                     /gene_synonym="LST005; MMYAT; MST"
                     /inference="alignment:Splign:2.1.0"
     exon            1315..1419
                     /gene="MSTO1"
                     /gene_synonym="LST005; MMYAT; MST"
                     /inference="alignment:Splign:2.1.0"
     exon            1420..1529
                     /gene="MSTO1"
                     /gene_synonym="LST005; MMYAT; MST"
                     /inference="alignment:Splign:2.1.0"
     exon            1530..2422
                     /gene="MSTO1"
                     /gene_synonym="LST005; MMYAT; MST"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      2422
                     /gene="MSTO1"
                     /gene_synonym="LST005; MMYAT; MST"
                     /note="major polyA site"
ORIGIN      
        1 gaggcgcggc ggccccgtgg agcagcgcag tatggcgggc ggggcccggg aggtgctcac
       61 actgcagttg ggacattttg ccggtttcgt gggcgcgcac tggtggaacc agcaggatgc
      121 tgcgctgggc cgagcgaccg attccaagga gcccccggga gagctgtgcc ccgacgtcct
      181 gtatcgtacg ggccggacgc tgcacggcca ggagacctac acgccgcgac tcatcctcat
      241 ggatctgaag ggtagtttga gctccctaaa agaggaaggt ggactctaca gggacaaaca
      301 gttggatgct gcaatagcat ggcaggggaa gctcaccaca cacaaagagg aactctatcc
      361 caagaaccct tatctccaag actttctgag tgcagaggga gtgctgagta gtgatggtgt
      421 ctggagggtc aaatccattc ccaatggcaa aggttcctca ccactcccca ccgctacaac
      481 tccaaaacca cttatcccta cagaggccag catcagggtc tggtcagact tcctcagagt
      541 ccatctccat ccccggagca tctgtatgat tcagaagtac aaccacgatg gggaagcagg
      601 tcggctggag gcttttggcc aaggggaaag tgtcctaaag gaacccaagt accaggaaga
      661 gctggaggac aggctgcatt tctacgtgga ggaatgtgac tacttgcagg gcttccagat
      721 cctgtgtgac ctgcacgatg gcttctctgg ggtaggcgcg aaggcggcag agctgctaca
      781 agatgaatat tcagggcggg gaataataac ctggggcctg ctacctggtc cctaccatcg
      841 tggggaggcc cagagaaaca tctatcgtct attaaacaca gcttttggtc tcgtgcacct
      901 gactgctcac agctctcttg tctgcccctt gtccttgggt gggagcctgg gcctgcgacc
      961 cgagccacct gtcagcttcc cttacctgca ttatgatgcc actctgccct tccactgcag
     1021 tgccatcctg gctacagccc tggacacagt cactgttcct tatcgcctgt gttcctctcc
     1081 agtttccatg gttcatctgg ctgacatgct gagcttctgt gggaaaaagg tggtgacagc
     1141 aggagcaatc atccctttcc ccttggctcc aggccagtcc cttcctgatt ccctgatgca
     1201 gtttggagga gccaccccat ggaccccact gtctgcatgt ggggagcctt ctggaacacg
     1261 ttgctttgcc cagtcagtgg tgctgagggg tatagacaga gcatgccaca caagccagct
     1321 caccccaggg acacctccac cctctgccct tcatgcatgt accactgggg aagaaatctt
     1381 ggctcagtat ttacaacagc agcagcctgg agtcatgagt tcttcccatc tgctgctgac
     1441 tccctgcagg gtggctcctc cttaccccca cctcttctca agctgcagtc caccgggtat
     1501 ggttctggat ggttccccca agggagcagc agtggagagc atcccagtgt ttggggcact
     1561 gtgttcctct tcgtccctgc accagaccct ggaagccttg gccagagacc tcaccaaact
     1621 cgacttgcgg cgctgggcca gcttcatgga tgctggagtg gagcacgatg acgtagcaga
     1681 gctgctgcag gagctacaaa gcctggccca gtgctaccag ggtggtgaca gcctcgtgga
     1741 ctaaagttcc cagtgtggga gaaaggagct agtttgcaat aaaaacagct ggatgcagga
     1801 gcccagtgtc ttcatgcaga ggagctcaat gtcgcgggac tagctacacc aacatatgca
     1861 ctttttacat ttagaaacac tgtgattaga ccacagaaca ataaatatgt gccatcagac
     1921 caaaaaaaag tagagaaagg agctgaactc cactctcgat gctacttaca gaggacatct
     1981 gtaaagtctt cataaaagac cttgaatgat gcctaggatg gcagagcccc tgggtcctac
     2041 tccatcctcc agcctttgtc cttgtcctgg cctcctgctc tccagatctg taaactgggc
     2101 tcaaggactg tacaagcaga gtacaactac ccgcctcccc ggtgccaggg cgcctgttgg
     2161 gtttggtcct gtgtagatga ttcccagagt ctcattcatc cagctcctct tcagacagaa
     2221 ggtccccatg gtcagacagc tggtctgcat tgctggtact ggttgcatca tcctcatcct
     2281 cagagctggc ttcacaggca gtgtggaaga gctgcatgag ttctcgaaaa tggtgggaaa
     2341 cctaagaaag gaggagggct gtattcactg atccttagta acatgttaac atttatgaag
     2401 cactatatat tgatttgcaa aa
//
