LOCUS       NM_032620               2566 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens GTP binding protein 3, mitochondrial (GTPBP3),
            transcript variant V, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_032620
VERSION     NM_032620.4
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 2566)
  AUTHORS   Zhang,Q., Ouyang,Q., Xiang,J., Li,H., Lv,H. and An,Y.
  TITLE     Pathogenicity Analysis of a Novel Variant in GTPBP3 Causing
            Mitochondrial Disease and Systematic Literature Review
  JOURNAL   Genes (Basel) 14 (3), 552 (2023)
   PUBMED   36980825
  REMARK    GeneRIF: Pathogenicity Analysis of a Novel Variant in GTPBP3
            Causing Mitochondrial Disease and Systematic Literature Review.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2566)
  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 2566)
  AUTHORS   Peng,G.X., Zhang,Y., Wang,Q.Q., Li,Q.R., Xu,H., Wang,E.D. and
            Zhou,X.L.
  TITLE     The human tRNA taurine modification enzyme GTPBP3 is an active
            GTPase linked to mitochondrial diseases
  JOURNAL   Nucleic Acids Res 49 (5), 2816-2834 (2021)
   PUBMED   33619562
  REMARK    GeneRIF: The human tRNA taurine modification enzyme GTPBP3 is an
            active GTPase linked to mitochondrial diseases.
REFERENCE   4  (bases 1 to 2566)
  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 2566)
  AUTHORS   Reiling,E., van Vliet-Ostaptchouk,J.V., van 't Riet,E., van
            Haeften,T.W., Arp,P.A., Hansen,T., Kremer,D., Groenewoud,M.J., van
            Hove,E.C., Romijn,J.A., Smit,J.W., Nijpels,G., Heine,R.J.,
            Uitterlinden,A.G., Pedersen,O., Slagboom,P.E., Maassen,J.A.,
            Hofker,M.H., 't Hart,L.M. and Dekker,J.M.
  TITLE     Genetic association analysis of 13 nuclear-encoded mitochondrial
            candidate genes with type II diabetes mellitus: the DAMAGE study
  JOURNAL   Eur J Hum Genet 17 (8), 1056-1062 (2009)
   PUBMED   19209188
  REMARK    GeneRIF: Meta-analysis of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 2566)
  AUTHORS   Villarroya,M., Prado,S., Esteve,J.M., Soriano,M.A., Aguado,C.,
            Perez-Martinez,D., Martinez-Ferrandis,J.I., Yim,L., Victor,V.M.,
            Cebolla,E., Montaner,A., Knecht,E. and Armengod,M.E.
  TITLE     Characterization of human GTPBP3, a GTP-binding protein involved in
            mitochondrial tRNA modification
  JOURNAL   Mol Cell Biol 28 (24), 7514-7531 (2008)
   PUBMED   18852288
  REMARK    GeneRIF: Data show that the two most abundant GTPBP3 isoforms
            exhibit moderate affinity for guanine nucleotides like their
            bacterial homologue, MnmE, although they hydrolyze GTP at a
            100-fold lower rate.
REFERENCE   7  (bases 1 to 2566)
  AUTHORS   Bykhovskaya,Y., Mengesha,E., Wang,D., Yang,H., Estivill,X.,
            Shohat,M. and Fischel-Ghodsian,N.
  TITLE     Phenotype of non-syndromic deafness associated with the
            mitochondrial A1555G mutation is modulated by mitochondrial RNA
            modifying enzymes MTO1 and GTPBP3
  JOURNAL   Mol Genet Metab 83 (3), 199-206 (2004)
   PUBMED   15542390
  REMARK    GeneRIF: Phenotype of non-syndromic deafness associated with the
            mitochondrial A1555G mutation is modulated by mitochondrial RNA
            modifying enzymes MTO1 and GTPBP3.
REFERENCE   8  (bases 1 to 2566)
  AUTHORS   Li,X. and Guan,M.X.
  TITLE     Identification and characterization of mouse GTPBP3 gene encoding a
            mitochondrial GTP-binding protein involved in tRNA modification
  JOURNAL   Biochem Biophys Res Commun 312 (3), 747-754 (2003)
   PUBMED   14680828
REFERENCE   9  (bases 1 to 2566)
  AUTHORS   Li,X. and Guan,M.X.
  TITLE     A human mitochondrial GTP binding protein related to tRNA
            modification may modulate phenotypic expression of the
            deafness-associated mitochondrial 12S rRNA mutation
  JOURNAL   Mol Cell Biol 22 (21), 7701-7711 (2002)
   PUBMED   12370316
  REMARK    GeneRIF: GTPBP3 localizes in the mitochondria and is a
            deafness-associated homolog of yeast MSS1.
REFERENCE   10 (bases 1 to 2566)
  AUTHORS   Magrini,S.M., Papi,M.G., Marletta,F., Tomaselli,S., Cellai,E.,
            Mungai,V. and Biti,G.
  TITLE     Chordoma-natural history, treatment and prognosis. The Florence
            Radiotherapy Department experience (1956-1990) and a critical
            review of the literature
  JOURNAL   Acta Oncol 31 (8), 847-851 (1992)
   PUBMED   1290633
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA044241.1, BC019261.1 and
            AY078988.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_032620.3.
            
            Summary: This locus encodes a GTP-binding protein. The encoded
            protein is localized to the mitochondria and may play a role in
            mitochondrial tRNA modification. Polymorphisms at this locus may be
            associated with severity of aminoglycoside-induced deafness, a
            disease associated with a mutation in the 12S rRNA. Alternatively
            spliced transcript variants encoding different isoforms have been
            described. [provided by RefSeq, Sep 2010].
            
            Transcript Variant: This variant (V) lacks an in-frame segment in
            the CDS, compared to variant IV. The resulting protein (isoform V)
            is shorter than isoform IV. This variant is also referred to as
            isoform I in PubMed IDs 12370316 and 18852288.
            
            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 :: BC019261.1, AK027606.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000324894.13/
                                                  ENSP00000313818.7
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-23                DA044241.1         37-59
            24-1161             BC019261.1         1-1138
            1162-1162           AY078988.1         1160-1160
            1163-1942           BC019261.1         1140-1919
            1943-2566           BC019261.1         1927-2550
FEATURES             Location/Qualifiers
     source          1..2566
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     gene            1..2566
                     /gene="GTPBP3"
                     /gene_synonym="COXPD23; GTPBG3; MSS1; MTGP1; THDF1"
                     /note="GTP binding protein 3, mitochondrial"
                     /db_xref="GeneID:84705"
                     /db_xref="HGNC:HGNC:14880"
                     /db_xref="MIM:608536"
     exon            1..112
                     /gene="GTPBP3"
                     /gene_synonym="COXPD23; GTPBG3; MSS1; MTGP1; THDF1"
                     /inference="alignment:Splign:2.1.0"
     CDS             60..1538
                     /gene="GTPBP3"
                     /gene_synonym="COXPD23; GTPBG3; MSS1; MTGP1; THDF1"
                     /note="isoform V is encoded by transcript variant V; tRNA
                     modification GTPase GTPBP3, mitochondrial; mitochondrial
                     GTP-binding protein 1"
                     /codon_start=1
                     /product="tRNA modification GTPase GTPBP3, mitochondrial
                     isoform V"
                     /protein_id="NP_116009.2"
                     /db_xref="CCDS:CCDS32951.1"
                     /db_xref="GeneID:84705"
                     /db_xref="HGNC:HGNC:14880"
                     /db_xref="MIM:608536"
                     /translation="MWRGLWTLAAQAARGPRRLCTRRSSGAPAPGSGATIFALSSGQG
                     RCGIAVIRTSGPASGHALRILTAPRDLPLARHASLRLLSDPRSGEPLDRALVLWFPGP
                     QSFTGEDCVEFHVHGGPAVVSGVLQALGSVPGLRPAEAGEFTRRAFANGKLNLTEVEG
                     LADLIHAETEAQRRQALRQLDGELGHLCRGWAETLTKALAHVEAYIDFGEDDNLEEGV
                     LEQADIEVRALQVALGAHLRDARRGQRLRSGVHVVVTGPPNAGKSSLVNLLSRKPVSI
                     VSPEPGTTRDVLETPVDLAGFPVLLSDTAGLREGVGPVEQEGVRRARERLEQADLILA
                     MLDASDLASPSSCNFLATVVASVGAQSPSDSSQRLLLVLNKSDLLSPEGPGPGPDLPP
                     HLLLSCLTGEGLDGLLEALRKELAAVCGDPSTDPPLLTRARHQHHLQGCLDALGHYKQ
                     SKDLALAAEALRVARGHLTRLTGGGGTEEILDIIFQDFCVGK"
     exon            113..360
                     /gene="GTPBP3"
                     /gene_synonym="COXPD23; GTPBG3; MSS1; MTGP1; THDF1"
                     /inference="alignment:Splign:2.1.0"
     exon            361..447
                     /gene="GTPBP3"
                     /gene_synonym="COXPD23; GTPBG3; MSS1; MTGP1; THDF1"
                     /inference="alignment:Splign:2.1.0"
     exon            448..650
                     /gene="GTPBP3"
                     /gene_synonym="COXPD23; GTPBG3; MSS1; MTGP1; THDF1"
                     /inference="alignment:Splign:2.1.0"
     exon            651..723
                     /gene="GTPBP3"
                     /gene_synonym="COXPD23; GTPBG3; MSS1; MTGP1; THDF1"
                     /inference="alignment:Splign:2.1.0"
     exon            724..867
                     /gene="GTPBP3"
                     /gene_synonym="COXPD23; GTPBG3; MSS1; MTGP1; THDF1"
                     /inference="alignment:Splign:2.1.0"
     exon            868..1033
                     /gene="GTPBP3"
                     /gene_synonym="COXPD23; GTPBG3; MSS1; MTGP1; THDF1"
                     /inference="alignment:Splign:2.1.0"
     exon            1034..1312
                     /gene="GTPBP3"
                     /gene_synonym="COXPD23; GTPBG3; MSS1; MTGP1; THDF1"
                     /inference="alignment:Splign:2.1.0"
     exon            1313..2566
                     /gene="GTPBP3"
                     /gene_synonym="COXPD23; GTPBG3; MSS1; MTGP1; THDF1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2539..2544
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTPBP3"
                     /gene_synonym="COXPD23; GTPBG3; MSS1; MTGP1; THDF1"
                     /note="hexamer: TATAAA"
     polyA_site      2566
                     /gene="GTPBP3"
                     /gene_synonym="COXPD23; GTPBG3; MSS1; MTGP1; THDF1"
                     /note="major polyA site"
ORIGIN      
        1 ctgcccagac ttgaagccac acaggcaggt cgggcaggcg ggtcgcaggt tgtaaatcca
       61 tgtggcgggg gctttggacc ctggcggccc aagcggcacg tgggcctcgc agattgtgca
      121 cgcgccggag cagcggcgca ccagcccccg gctccggcgc caccatcttc gcgctaagct
      181 ctggccaagg ccgctgcggc atcgcagtga tccggaccag cggccccgcc agcggccacg
      241 ccctccgaat tctcacagca ccccgagacc tgccccttgc tcgccacgcc agcctgcgcc
      301 tgctcagcga tccccgctcc ggggagcctc tggaccgcgc actggtgctc tggttcccag
      361 gtccccagag tttcaccggt gaggactgcg tggagttcca cgtgcatgga ggcccggcag
      421 tggtgagcgg cgtcctgcag gccttgggca gcgtgccagg gcttcgaccg gcggaggcag
      481 gcgagttcac cagacgggcg ttcgccaatg ggaagctgaa cctgaccgaa gtggaggggc
      541 tggcggacct tatccacgcg gaaacagagg cgcagcggcg gcaggccctc aggcagctgg
      601 acggagagct gggccacctc tgccgtggct gggccgagac cctcaccaaa gctctggccc
      661 acgtggaggc ctatatcgat ttcggcgagg atgacaacct ggaggagggg gtcctggagc
      721 aagccgacat cgaagtacgg gcactgcagg tggccctggg tgcacatcta cgagatgcca
      781 ggcgcgggca gaggctccgc tcaggggtgc acgtagtggt cactggaccc cccaatgcgg
      841 gcaagagcag cctagtgaac ctgctcagtc ggaagcctgt gtccatcgtg tccccggagc
      901 cagggaccac ccgtgacgtg ctggagaccc cagtcgacct ggccggattt cctgtgctgc
      961 tgagcgacac ggctgggttg cgggagggcg tggggcccgt ggagcaggag ggcgtgcggc
     1021 gcgcccggga gaggctagag caggctgacc tcattctggc catgctggat gcttctgacc
     1081 tggcctctcc ctccagttgc aacttcctgg ccaccgtcgt agcctctgtg ggagcccaga
     1141 gccccagtga cagcagccag cgcctcctcc tggtgctgaa caagtcggac ctgctgtccc
     1201 cggagggccc aggtcccggt cctgacctgc ccccgcacct gctgctgtcc tgtctgacgg
     1261 gagaggggct ggacggcctc ctggaggcgc tgaggaagga gctagctgca gtgtgtgggg
     1321 acccgtccac agatcccccg ctgctgaccc gagcaaggca ccagcaccac ctccagggtt
     1381 gcctggatgc cctcggccac tacaagcagt caaaagacct ggccctggcg gcagaggcgc
     1441 tgcgggtggc ccggggtcac ctgacccggc tcacaggtgg agggggtacc gaggagatcc
     1501 tggacatcat cttccaggac ttctgtgtgg gcaagtgacg ggatccaggg aagtcgcacc
     1561 caagctgcgt ggagacccag gagcctcggg ggatctggaa acagtttagg ccaattggga
     1621 ttctcattcg cctgggaaag aacttgattc tcaaatagtg aagcaacaca gctgagaggt
     1681 agtgagatcc ctgcagggac tccctggaga ttcaggccct ggaatggggc tgaatggagg
     1741 tcccgttcga cccttgatgc tggggcatcc gggttgggat ggagatagga ggatctcagt
     1801 atatttgttt cgtagttttt tatttatttt gcaaatacca aaggaatgta aaaaaaactc
     1861 aggtgatcta gaagtgttta ttttcttccc ttcccttccc ttccctttcc ttttcccttt
     1921 ccctttcccc ttccccttcc ccttcccctt cccctaccct tccctcctct gtctattgcc
     1981 caggctggag tgcagtggtg cgaccttggc tcactgcaac ctccatctcc ggggctcaag
     2041 cgcttctcct gcctcagcct cctgagtagc tgggattaca ggcatgtgcc agcatgcccg
     2101 gctaattttt ttcttttttt gagacagagt ctcgctctgt cacccaggct ggagttcagt
     2161 ggtgcgacct cggcttactg caacctccac ctcccgggtt caagtgattc tcctgcctca
     2221 gcctcttgag tagctgggac tacaggcgca caccaccacg ccaggctaat ttttgtattt
     2281 ttagtagaga caaggtttca ccatgttgac caggctggtc ttgaactcct tgacctcagg
     2341 taatctgcct accttggcct cccaaagtgc tgggatcaca ggcgtgagct atcacacctg
     2401 gccccagaag tgtttcaaca tggaaatttt ccttagccct tctgtggttg tcatggctta
     2461 atgtgtgtct ttccagaact ttgaatgttt gcatacttgt ggatgtacct ttcaaatatg
     2521 tttgtcttgt gtatcatata taaatggtat tgtgttcatt gctcta
//
