LOCUS       NM_015666               3747 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens mitochondrial ribosome associated GTPase 2 (MTG2),
            transcript variant 2, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_015666
VERSION     NM_015666.4
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 3747)
  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   2  (bases 1 to 3747)
  AUTHORS   Cipullo,M., Pearce,S.F., Lopez Sanchez,I.G., Gopalakrishna,S.,
            Kruger,A., Schober,F., Busch,J.D., Li,X., Wredenberg,A.,
            Atanassov,I. and Rorbach,J.
  TITLE     Human GTPBP5 is involved in the late stage of mitoribosome large
            subunit assembly
  JOURNAL   Nucleic Acids Res 49 (1), 354-370 (2021)
   PUBMED   33283228
  REMARK    GeneRIF: Human GTPBP5 is involved in the late stage of mitoribosome
            large subunit assembly.
REFERENCE   3  (bases 1 to 3747)
  AUTHORS   Maiti,P., Antonicka,H., Gingras,A.C., Shoubridge,E.A. and
            Barrientos,A.
  TITLE     Human GTPBP5 (MTG2) fuels mitoribosome large subunit maturation by
            facilitating 16S rRNA methylation
  JOURNAL   Nucleic Acids Res 48 (14), 7924-7943 (2020)
   PUBMED   32652011
  REMARK    GeneRIF: Human GTPBP5 (MTG2) fuels mitoribosome large subunit
            maturation by facilitating 16S rRNA methylation.
REFERENCE   4  (bases 1 to 3747)
  AUTHORS   Kotani,T., Akabane,S., Takeyasu,K., Ueda,T. and Takeuchi,N.
  TITLE     Human G-proteins, ObgH1 and Mtg1, associate with the large
            mitochondrial ribosome subunit and are involved in translation and
            assembly of respiratory complexes
  JOURNAL   Nucleic Acids Res 41 (6), 3713-3722 (2013)
   PUBMED   23396448
  REMARK    GeneRIF: The results suggested that ObgH1 functions with the large
            subunit of the mitochondrial ribosome, and are involved in both the
            translation and assembly of respiratory complexes.
REFERENCE   5  (bases 1 to 3747)
  AUTHORS   Solomon,B.D., Pineda-Alvarez,D.E., Hadley,D.W., Keaton,A.A.,
            Agochukwu,N.B., Raam,M.S., Carlson-Donohoe,H.E., Kamat,A. and
            Chandrasekharappa,S.C.
  TITLE     De novo deletion of chromosome 20q13.33 in a patient with
            tracheo-esophageal fistula, cardiac defects and genitourinary
            anomalies implicates GTPBP5 as a candidate gene
  JOURNAL   Birth Defects Res A Clin Mol Teratol 91 (9), 862-865 (2011)
   PUBMED   21608104
  REMARK    GeneRIF: GTPBP5 bears further study as a cause of TEF/EA
            accompanied by other malformations.
REFERENCE   6  (bases 1 to 3747)
  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   7  (bases 1 to 3747)
  AUTHORS   Hirano,Y., Ohniwa,R.L., Wada,C., Yoshimura,S.H. and Takeyasu,K.
  TITLE     Human small G proteins, ObgH1, and ObgH2, participate in the
            maintenance of mitochondria and nucleolar architectures
  JOURNAL   Genes Cells 11 (11), 1295-1304 (2006)
   PUBMED   17054726
  REMARK    GeneRIF: Knock-down of ObgH1 by RNAi induced mitochondria
            elongation, whereas knock-down of ObgH2 resulted in the
            disorganization of the nucleolar architecture.
REFERENCE   8  (bases 1 to 3747)
  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
REFERENCE   9  (bases 1 to 3747)
  AUTHORS   Deloukas,P., Matthews,L.H., Ashurst,J., Burton,J., Gilbert,J.G.,
            Jones,M., Stavrides,G., Almeida,J.P., Babbage,A.K., Bagguley,C.L.,
            Bailey,J., Barlow,K.F., Bates,K.N., Beard,L.M., Beare,D.M.,
            Beasley,O.P., Bird,C.P., Blakey,S.E., Bridgeman,A.M., Brown,A.J.,
            Buck,D., Burrill,W., Butler,A.P., Carder,C., Carter,N.P.,
            Chapman,J.C., Clamp,M., Clark,G., Clark,L.N., Clark,S.Y.,
            Clee,C.M., Clegg,S., Cobley,V.E., Collier,R.E., Connor,R.,
            Corby,N.R., Coulson,A., Coville,G.J., Deadman,R., Dhami,P.,
            Dunn,M., Ellington,A.G., Frankland,J.A., Fraser,A., French,L.,
            Garner,P., Grafham,D.V., Griffiths,C., Griffiths,M.N., Gwilliam,R.,
            Hall,R.E., Hammond,S., Harley,J.L., Heath,P.D., Ho,S., Holden,J.L.,
            Howden,P.J., Huckle,E., Hunt,A.R., Hunt,S.E., Jekosch,K.,
            Johnson,C.M., Johnson,D., Kay,M.P., Kimberley,A.M., King,A.,
            Knights,A., Laird,G.K., Lawlor,S., Lehvaslaiho,M.H., Leversha,M.,
            Lloyd,C., Lloyd,D.M., Lovell,J.D., Marsh,V.L., Martin,S.L.,
            McConnachie,L.J., McLay,K., McMurray,A.A., Milne,S., Mistry,D.,
            Moore,M.J., Mullikin,J.C., Nickerson,T., Oliver,K., Parker,A.,
            Patel,R., Pearce,T.A., Peck,A.I., Phillimore,B.J.,
            Prathalingam,S.R., Plumb,R.W., Ramsay,H., Rice,C.M., Ross,M.T.,
            Scott,C.E., Sehra,H.K., Shownkeen,R., Sims,S., Skuce,C.D.,
            Smith,M.L., Soderlund,C., Steward,C.A., Sulston,J.E., Swann,M.,
            Sycamore,N., Taylor,R., Tee,L., Thomas,D.W., Thorpe,A., Tracey,A.,
            Tromans,A.C., Vaudin,M., Wall,M., Wallis,J.M., Whitehead,S.L.,
            Whittaker,P., Willey,D.L., Williams,L., Williams,S.A., Wilming,L.,
            Wray,P.W., Hubbard,T., Durbin,R.M., Bentley,D.R., Beck,S. and
            Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL078633.32.
            
            On Jun 16, 2020 this sequence version replaced NM_015666.3.
            
            Summary: Small G proteins, such as GTPBP5, act as molecular
            switches that play crucial roles in the regulation of fundamental
            cellular processes such as protein synthesis, nuclear transport,
            membrane trafficking, and signal transduction (Hirano et al., 2006
            [PubMed 17054726]).[supplied by OMIM, Mar 2008].
            
            ##Evidence-Data-START##
            CDS exon combination :: BX360017.2 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA1965299, SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000370823.8/
                                                  ENSP00000359859.3
            RefSeq Select criteria             :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-30                AL078633.32        52619-52648         c
            31-239              AL078633.32        42052-42260         c
            240-387             AL078633.32        39727-39874         c
            388-503             AL078633.32        37709-37824         c
            504-722             AL078633.32        36824-37042         c
            723-861             AL078633.32        36419-36557         c
            862-3747            AL078633.32        32108-34993         c
FEATURES             Location/Qualifiers
     source          1..3747
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.33"
     gene            1..3747
                     /gene="MTG2"
                     /gene_synonym="dJ1005F21.2; GTPBP5; ObgH1"
                     /note="mitochondrial ribosome associated GTPase 2"
                     /db_xref="GeneID:26164"
                     /db_xref="HGNC:HGNC:16239"
                     /db_xref="MIM:610919"
     exon            1..30
                     /gene="MTG2"
                     /gene_synonym="dJ1005F21.2; GTPBP5; ObgH1"
                     /inference="alignment:Splign:2.1.0"
     exon            31..239
                     /gene="MTG2"
                     /gene_synonym="dJ1005F21.2; GTPBP5; ObgH1"
                     /inference="alignment:Splign:2.1.0"
     CDS             36..1256
                     /gene="MTG2"
                     /gene_synonym="dJ1005F21.2; GTPBP5; ObgH1"
                     /note="isoform 2 is encoded by transcript variant 2;
                     protein obg homolog 1; GTP binding protein 5 (putative);
                     GTP-binding protein 5"
                     /codon_start=1
                     /product="mitochondrial ribosome-associated GTPase 2
                     isoform 2"
                     /protein_id="NP_056481.1"
                     /db_xref="CCDS:CCDS13492.1"
                     /db_xref="GeneID:26164"
                     /db_xref="HGNC:HGNC:16239"
                     /db_xref="MIM:610919"
                     /translation="MAPARCFSARLRTVFQGVGHWALSTWAGLKPSRLLPQRASPRLL
                     SVGRADLAKHQELPGKKLLSEKKLKRYFVDYRRVLVCGGNGGAGASCFHSEPRKEFGG
                     PDGGDGGNGGHVILRVDQQVKSLSSVLSRYQGFSGEDGGSKNCFGRSGAVLYIRVPVG
                     TLVKEGGRVVADLSCVGDEYIAALGGAGGKGNRFFLANNNRAPVTCTPGQPGQQRVLH
                     LELKTVAHAGMVGFPNAGKSSLLRAISNARPAVASYPFTTLKPHVGIVHYEGHLQIAV
                     ADIPGIIRGAHQNRGLGSAFLRHIERCRFLLFVVDLSQPEPWTQVDDLKYELEMYEKG
                     LSARPHAIVANKIDLPEAQANLSQLRDHLGQEVIVLSALTGENLEQLLLHLKVLYDAY
                     AEAELGQGRQPLRW"
     exon            240..387
                     /gene="MTG2"
                     /gene_synonym="dJ1005F21.2; GTPBP5; ObgH1"
                     /inference="alignment:Splign:2.1.0"
     exon            388..503
                     /gene="MTG2"
                     /gene_synonym="dJ1005F21.2; GTPBP5; ObgH1"
                     /inference="alignment:Splign:2.1.0"
     exon            504..722
                     /gene="MTG2"
                     /gene_synonym="dJ1005F21.2; GTPBP5; ObgH1"
                     /inference="alignment:Splign:2.1.0"
     exon            723..861
                     /gene="MTG2"
                     /gene_synonym="dJ1005F21.2; GTPBP5; ObgH1"
                     /inference="alignment:Splign:2.1.0"
     exon            862..3747
                     /gene="MTG2"
                     /gene_synonym="dJ1005F21.2; GTPBP5; ObgH1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1329..1334
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTG2"
                     /gene_synonym="dJ1005F21.2; GTPBP5; ObgH1"
                     /note="hexamer: CATAAA"
     polyA_site      1351
                     /gene="MTG2"
                     /gene_synonym="dJ1005F21.2; GTPBP5; ObgH1"
     regulatory      3724..3729
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTG2"
                     /gene_synonym="dJ1005F21.2; GTPBP5; ObgH1"
                     /note="hexamer: CATAAA"
     polyA_site      3747
                     /gene="MTG2"
                     /gene_synonym="dJ1005F21.2; GTPBP5; ObgH1"
                     /note="major polyA site"
ORIGIN      
        1 gctccggaag tgacgtgctt tcccgagccg gggccatggc acctgcaagg tgtttctcag
       61 caagattgag gaccgtgttt cagggcgtgg ggcattgggc tttgtccaca tgggctggcc
      121 tgaagcccag ccggctactg ccacagcggg cttctcccag gctgctctcg gtcggccgtg
      181 cggacctcgc caagcatcag gaactcccgg ggaagaagct gctctctgag aaaaagctga
      241 aaaggtactt tgtggactat cggagagtgc ttgtctgtgg aggaaacgga ggcgctgggg
      301 caagctgctt ccacagtgag ccccgcaagg agtttggagg ccctgatgga ggggacggag
      361 gcaacggtgg acacgtcatt ctgagagttg accagcaagt caagtccctg tcgtcggtcc
      421 tgtcgcggta ccagggtttc agtggagaag atggagggag taaaaactgc ttcgggcgca
      481 gtggcgccgt cctctacatc cgggtccccg tgggcacgct ggtgaaggag ggaggcagag
      541 ttgtggccga cctgtcttgc gtgggagatg agtacattgc cgcgctgggc ggggcaggag
      601 ggaaaggcaa ccgcttcttc ctggccaaca acaaccgtgc ccctgtgacc tgtacccctg
      661 gacagccagg acagcagcga gttctccacc tggagctcaa gacggtggcc cacgccggaa
      721 tggtgggatt ccccaacgcc gggaagtcct cactgctccg ggccatttca aacgccagac
      781 ccgccgtggc ttcctacccg ttcaccaccc tgaagcccca cgtcgggatc gtccactacg
      841 aaggccacct acaaatagca gtggccgaca tccccggcat catacgaggc gcccaccaga
      901 acaggggtct ggggtccgcc ttcctcaggc acatcgagcg ctgccgcttt ctcttgttcg
      961 tggtggatct ttctcagcct gagccgtgga ctcaagttga cgatttaaaa tatgaactgg
     1021 agatgtatga aaagggcctg tctgcgaggc cccacgcaat cgtcgcaaac aagattgacc
     1081 tccctgaagc ccaagccaat ctgtcccagc tccgggatca cttgggacag gaggtcatcg
     1141 tgctgtcggc gttgaccggc gagaacctgg agcagctgct gttgcacctg aaggtgctgt
     1201 atgacgccta cgcggaggcc gagctgggcc agggccgcca gccgctcagg tggtagccac
     1261 gccagagcgg ggtcgcctct gggcctctgt ctgagcaaac ctgggtgtga attcggtggt
     1321 tttgaatgca taaagtgcct tgtggacacg ggggagttgt ggtgcttctg ggtctctggg
     1381 ccccgcctgc tggcctgaga tgccctcatg ttgggaagca ttccgtgccc cctaccccgc
     1441 ctgccctccg tatttcctgc acctgtcagc ctgcaccgac tgatgagcca gttgctcatt
     1501 tgtgctgatt aacaccccta ataaggggtt ggggtgccca taacggggtg gccctgccgc
     1561 tgactcaggt ctccgccatg cacgcgtgga ctctcggatg agctcagcag aaccgcacag
     1621 ccagagcccc aggtcagaag tgcagaccag ggttctcagc acagtgcccg tcgtgcttcc
     1681 atggcttgct acggagagag acctctggat ccacactggg gctgcgtctg gcccgttgtc
     1741 cagcagccct gcggtaccgc aagcccaggc accagtgtct cggggggcct cactgctgcg
     1801 caaggggtgg ggccgaggat gcaagtccag gcagagcggc gcaggcagct gtgagctttt
     1861 ctccatcagc cgtctgagaa gagcagtgag gccagctgct tcctgtcctt cagaacactt
     1921 ctctgtgctc agtgggagcc aggaagcctc aggcttcacg actgaatgca cccaatatcc
     1981 gacctggctg cgtgtttctg gctgggctgc cgtgtgcaca gcaagttaac tagaggggct
     2041 gtgggccatg gaactgtcag cgttattctc agaaggcggc cgtggcatgg gcagggtata
     2101 gtgaggagtg gaaggagacg tgtgcctggt aatatggggc ggaatttcca ctcagctcca
     2161 tttgctgggg atttaaagag aacccttgtg ctacgccagg cagttaccga gccgaaggga
     2221 gatgatgggc cttcgcccct cagtgggatg gcagctgagg gggccctgca tttgaccgtc
     2281 gagactgcag cagcgccttt cctgtctgtg gtttaagtct ttgcagtcaa gtactgatgc
     2341 atccaagcca ggcccatgcc tggtgtctcc ctgactgcag aggagcccca gggcaaggac
     2401 agctcagctg ctggcagcct gcctggccca tagacatccc ccaagtagtc tcaggcctct
     2461 gacatgtccc tgaggggccc ctaagaaaga aagtggaggg gacactccag aggctgtcgt
     2521 gggaggatca tgtgagcctg ggaggtcaag gctgcagtga gccgtgattg caccactgca
     2581 ctccagcctg agtgacagag cgagaccctg tctcaaaaaa caaacaaaca aacaaacaaa
     2641 aacagaacat tctgggcacg gtggctcatg cctgtagtcc cagcactttg ggaggccgag
     2701 gctggtggat cacaaggtca ggagattgag accatcctgg ctaacacagt gaaaccccgt
     2761 ctctactaaa aatacaaaaa aattagccag gcgtggtggc ggtcacctgt agtcccagct
     2821 actcgggagg ctgaagcagg agaatggcgt gaacctggga ggcggagctt gcagtgagcc
     2881 gagatcacac cactgcactc cagcctgagc gacagagcaa gactccatct caaaaaaaaa
     2941 aaaaaagtgg aggggacaaa gaagcagaga aggatgatca gaaggggacc cccagccctt
     3001 ggaggagaga cggcagcctc aggtgagatg agccgcaagg gtccggggcc gcgtctctgc
     3061 acgctggggt ggggcgcgct ttgcacagca ggccggtgcc tgggctttca ggagcaattc
     3121 cgttttgatc tcacatcaaa tctgcagcta gaacatgaca gtccttttac ccgaagcttt
     3181 attttaatgt cttataattt caaaggtcct tctatcctag aaaccagaga tgggttttgc
     3241 atctatttgc tttttctttc aggccgccac aaaggatttt gtggagtcgc cccaggcctg
     3301 acggcgttaa ttatccctgg ctttcatctt gatgctcttg caggggaggc tcaagatgcc
     3361 ttgtggctcg acccctgcac ggagccccca gcccagcctc cccgtgggtt gaaaccttga
     3421 tctgggcctg actgtggctg ctctggggac atgccctcgt cctttgctga agctgaggct
     3481 ccagaggggg agtcactgcc acgaaggttg cccagaactt tccttgctgc aaaaagcccc
     3541 aagacttctc cctgccacac acacagcttt tgccatcgcg ttctaaaagc tgacagcttt
     3601 ctctccaaca ctgttctccc tgagtagggt aaagctacac ttggcttccc cagtttcctg
     3661 tttcctgcct agaaacaaat ttttgtcagt ctgcttttca aatgggatat atgattcaca
     3721 taccataaaa ttcaccactt tatataa
//
