LOCUS       NM_024864               1839 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens mitochondrial rRNA methyltransferase 1 (MRM1), mRNA;
            nuclear gene for mitochondrial product.
ACCESSION   NM_024864
VERSION     NM_024864.5
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 1839)
  AUTHORS   Rebelo-Guiomar,P., Pellegrino,S., Dent,K.C., Sas-Chen,A.,
            Miller-Fleming,L., Garone,C., Van Haute,L., Rogan,J.F., Dinan,A.,
            Firth,A.E., Andrews,B., Whitworth,A.J., Schwartz,S., Warren,A.J.
            and Minczuk,M.
  TITLE     A late-stage assembly checkpoint of the human mitochondrial
            ribosome large subunit
  JOURNAL   Nat Commun 13 (1), 929 (2022)
   PUBMED   35177605
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1839)
  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 1839)
  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   4  (bases 1 to 1839)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 1839)
  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   6  (bases 1 to 1839)
  AUTHORS   Lee,K.W., Okot-Kotber,C., LaComb,J.F. and Bogenhagen,D.F.
  TITLE     Mitochondrial ribosomal RNA (rRNA) methyltransferase family members
            are positioned to modify nascent rRNA in foci near the
            mitochondrial DNA nucleoid
  JOURNAL   J Biol Chem 288 (43), 31386-31399 (2013)
   PUBMED   24036117
REFERENCE   7  (bases 1 to 1839)
  AUTHORS   Baltz,A.G., Munschauer,M., Schwanhausser,B., Vasile,A.,
            Murakawa,Y., Schueler,M., Youngs,N., Penfold-Brown,D., Drew,K.,
            Milek,M., Wyler,E., Bonneau,R., Selbach,M., Dieterich,C. and
            Landthaler,M.
  TITLE     The mRNA-bound proteome and its global occupancy profile on
            protein-coding transcripts
  JOURNAL   Mol Cell 46 (5), 674-690 (2012)
   PUBMED   22681889
REFERENCE   8  (bases 1 to 1839)
  AUTHORS   Castello,A., Fischer,B., Eichelbaum,K., Horos,R., Beckmann,B.M.,
            Strein,C., Davey,N.E., Humphreys,D.T., Preiss,T., Steinmetz,L.M.,
            Krijgsveld,J. and Hentze,M.W.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   9  (bases 1 to 1839)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   10 (bases 1 to 1839)
  AUTHORS   Wang,A.G., Yoon,S.Y., Oh,J.H., Jeon,Y.J., Kim,M., Kim,J.M.,
            Byun,S.S., Yang,J.O., Kim,J.H., Kim,D.G., Yeom,Y.I., Yoo,H.S.,
            Kim,Y.S. and Kim,N.S.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC243732.3, CB137408.1 and BC009416.1.
            
            On Nov 23, 2018 this sequence version replaced NM_024864.4.
            
            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 :: SRR1163658.119175.1,
                                           SRR1163658.151192.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000614766.5/
                                                  ENSP00000481559.1
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-13                AC243732.3         223964-223976
            14-512              CB137408.1         2-500
            513-1415            BC009416.1         1-903
            1416-1416           AC243732.3         230922-230922
            1417-1787           BC009416.1         905-1275
            1788-1788           AC243732.3         231294-231294
            1789-1839           BC009416.1         1277-1327
FEATURES             Location/Qualifiers
     source          1..1839
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
     gene            1..1839
                     /gene="MRM1"
                     /note="mitochondrial rRNA methyltransferase 1"
                     /db_xref="GeneID:79922"
                     /db_xref="HGNC:HGNC:26202"
                     /db_xref="MIM:618099"
     exon            1..770
                     /gene="MRM1"
                     /inference="alignment:Splign:2.1.0"
     CDS             229..1290
                     /gene="MRM1"
                     /note="rRNA methyltransferase 1, mitochondrial;
                     mitochondrial large ribosomal RNA ribose methylase; 16S
                     rRNA [Gm1145] 2'-O-methyltransferase; 16S rRNA
                     (guanosine(1145)-2'-O)-methyltransferase; CTB-75G16.3;
                     mitochondrial rRNA methyltransferase 1 homolog"
                     /codon_start=1
                     /product="rRNA methyltransferase 1, mitochondrial
                     precursor"
                     /protein_id="NP_079140.2"
                     /db_xref="CCDS:CCDS32631.1"
                     /db_xref="GeneID:79922"
                     /db_xref="HGNC:HGNC:26202"
                     /db_xref="MIM:618099"
                     /translation="MALLSTVRGATWGRLVTRHFSHAARHGERPGGEELSRLLLDDLV
                     PTSRLELLFGMTPCLLALQAARRSVARLLLQAGKAGLQGKRAELLRMAEARDIPVLRP
                     RRQKLDTMCRYQVHQGVCMEVSPLRPRPWREAGEASPGDDPQQLWLVLDGIQDPRNFG
                     AVLRSAHFLGVDKVITSRRNSCPLTPVVSKSSAGAMEVMDVFSTDDLTGFLQTKAQQG
                     WLVAGTVGCPSTEDPQSSEIPIMSCLEFLWERPTLLVLGNEGSGLSQEVQASCQLLLT
                     ILPRRQLPPGLESLNVSVAAGILLHSICSQRKGFPTEGERRQLLQDPQEPSARSEGLS
                     MAQHPGLSSGPEKERQNEG"
     exon            771..864
                     /gene="MRM1"
                     /inference="alignment:Splign:2.1.0"
     exon            865..997
                     /gene="MRM1"
                     /inference="alignment:Splign:2.1.0"
     exon            998..1117
                     /gene="MRM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1118..1839
                     /gene="MRM1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1821..1826
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRM1"
                     /note="hexamer: AATAAA"
     polyA_site      1839
                     /gene="MRM1"
                     /note="major polyA site"
ORIGIN      
        1 gaacccggaa gcgagggacc cacgtgggag cctgggagcg ggtggtcgta gctcggtagt
       61 ccagttgtgg gtaatcgggg ctgtttgttc ctgtccgaga gagctcggcg gagacggctg
      121 tcgagtaccc ttcacctcgg tgttgggagc ctgggagcga actgcggcgc gggttaccgc
      181 tcccggggac gcagcaaggg gcatcgagtc cctggcggga gctgcgccat ggcattgctc
      241 tcgaccgtcc ggggcgcgac ctggggtcgc ctcgtcaccc gtcatttctc ccatgcagcg
      301 cggcatgggg agcggcctgg tggggaggag ctaagccgct tgctgctgga tgacctggtg
      361 ccgacctctc ggctggagct tctgtttggc atgaccccgt gtctcctggc tctgcaggcc
      421 gcccgccgct ctgtggcccg gctcctgctc caggcgggta aagctgggct gcaggggaag
      481 cgggccgagc tgctccggat ggccgaggcg cgggacattc cagttctgcg gcccagacgg
      541 cagaaactgg acacaatgtg ccgctaccag gtccaccagg gtgtctgcat ggaggtgagc
      601 ccgctgcggc cccggccttg gagagaggcc ggggaggcga gcccaggcga cgacccccag
      661 cagttgtggc tcgtcctcga tgggatccag gatccccgga attttggggc tgtgctgcgt
      721 tccgcacact tcctcggagt ggataaggtc atcaccagcc ggagaaacag ctgcccgctc
      781 actccagtag tcagcaagtc cagcgcgggg gctatggagg tgatggacgt gttctccact
      841 gatgacctca ccggattttt acagaccaaa gcccagcagg gctggctcgt ggccggcacg
      901 gtgggctgcc caagcacaga ggatccccag tcctccgaga tccccatcat gagttgcttg
      961 gagttcctct gggaacggcc tactctcctt gtgctgggga atgagggctc aggtctatcc
     1021 caggaggtgc aggcctcctg ccagcttctc ctcaccatcc tgccccggcg ccagctgcct
     1081 cctggacttg agtccttgaa cgtctctgtg gctgcaggaa ttcttcttca ctccatttgc
     1141 agccagagga agggtttccc cacagagggg gagagaaggc agcttctcca agacccccaa
     1201 gaaccctcag ccaggtctga agggctcagc atggctcagc acccagggct gtcttcaggc
     1261 ccagagaaag agaggcaaaa tgagggctga cgtggactgt ccacagtgtt catgtgctgg
     1321 agtcagggac ggccgcacct gcctccgccg gctccagtgt gcggggagcc tctgcctgag
     1381 tgtgcaccag gcccatgttt attgaccaca gtctgggggg gggggaaggg gactgcggtg
     1441 gacaccagag gaagctgttt cctgttgtga tgttggacct gtagtaggac atggtgattt
     1501 gttaatttcc atgggaagcc atgatggcct agcatggagg gaatctgttc ccaggccctg
     1561 cctggaagtt gagggaaagt ttagacatct gcagagaggc aggcagccca gcccagggga
     1621 cccgttcctc ttgaaccagt cattgcctgt ggcaaatgtg tgtatgagaa tgtggggggt
     1681 ggagggcggg gccctgatgt ggagtagaca gtgcgcacct caggcccaca cacggccccg
     1741 ccctggggcc ttgagcgcag gcctcatctt tctgtgccgc gggactccgc acctacctca
     1801 cagggttgtt gtgaggctca aataaaacat cactcagca
//
