LOCUS       NM_025150               2727 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens threonyl-tRNA synthetase 2, mitochondrial (TARS2),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_025150
VERSION     NM_025150.5
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 2727)
  AUTHORS   Accogli,A., Lin,S.J., Severino,M., Kim,S.H., Huang,K., Rocca,C.,
            Landsverk,M., Zaki,M.S., Al-Maawali,A., Srinivasan,V.M.,
            Al-Thihli,K., Schaefer,G.B., Davis,M., Tonduti,D., Doneda,C.,
            Marten,L.M., Muhlhausen,C., Gomez,M., Lamantea,E., Mena,R.,
            Nizon,M., Procaccio,V., Begtrup,A., Telegrafi,A., Cui,H.,
            Schulz,H.L., Mohr,J., Biskup,S., Loos,M.A., Araoz,H.V.,
            Salpietro,V., Keppen,L.D., Chitre,M., Petree,C., Raymond,L.,
            Vogt,J., Sawyer,L.B., Basinger,A.A., Pedersen,S.V., Pearson,T.S.,
            Grange,D.K., Lingappa,L., McDunnah,P., Horvath,R., Cogne,B.,
            Isidor,B., Hahn,A., Gripp,K.W., Jafarnejad,S.M., Ostergaard,E.,
            Prada,C.E., Ghezzi,D., Gowda,V.K., Taylor,R.W., Sonenberg,N.,
            Houlden,H., Sissler,M., Varshney,G.K. and Maroofian,R.
  TITLE     Clinical, neuroradiological, and molecular characterization of
            mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder
  JOURNAL   Genet Med 25 (11), 100938 (2023)
   PUBMED   37454282
  REMARK    GeneRIF: Clinical, neuroradiological, and molecular
            characterization of mitochondrial threonyl-tRNA-synthetase
            (TARS2)-related disorder.
REFERENCE   2  (bases 1 to 2727)
  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 2727)
  AUTHORS   Kim,S.H., Choi,J.H., Wang,P., Go,C.D., Hesketh,G.G., Gingras,A.C.,
            Jafarnejad,S.M. and Sonenberg,N.
  TITLE     Mitochondrial Threonyl-tRNA Synthetase TARS2 Is Required for
            Threonine-Sensitive mTORC1 Activation
  JOURNAL   Mol Cell 81 (2), 398-407 (2021)
   PUBMED   33340489
  REMARK    GeneRIF: Mitochondrial Threonyl-tRNA Synthetase TARS2 Is Required
            for Threonine-Sensitive mTORC1 Activation.
REFERENCE   4  (bases 1 to 2727)
  AUTHORS   Li,X., Peng,B., Hou,C., Li,J., Zeng,Y., Wu,W., Liao,Y., Tian,Y. and
            Chen,W.X.
  TITLE     Novel compound heterozygous TARS2 variants in a Chinese family with
            mitochondrial encephalomyopathy: a case report
  JOURNAL   BMC Med Genet 21 (1), 217 (2020)
   PUBMED   33153448
  REMARK    GeneRIF: Novel compound heterozygous TARS2 variants in a Chinese
            family with mitochondrial encephalomyopathy: a case report.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2727)
  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 2727)
  AUTHORS   Wang,Y., Zhou,X.L., Ruan,Z.R., Liu,R.J., Eriani,G. and Wang,E.D.
  TITLE     A Human Disease-causing Point Mutation in Mitochondrial
            Threonyl-tRNA Synthetase Induces Both Structural and Functional
            Defects
  JOURNAL   J Biol Chem 291 (12), 6507-6520 (2016)
   PUBMED   26811336
  REMARK    GeneRIF: Identification of a TARS2 splicing variant in several
            human cell lines, which encodes a hmtThrRS derivative lacking a
            peptide covering a portion of both the editing and the
            aminoacylation domains.
REFERENCE   7  (bases 1 to 2727)
  AUTHORS   Diodato,D., Melchionda,L., Haack,T.B., Dallabona,C., Baruffini,E.,
            Donnini,C., Granata,T., Ragona,F., Balestri,P., Margollicci,M.,
            Lamantea,E., Nasca,A., Powell,C.A., Minczuk,M., Strom,T.M.,
            Meitinger,T., Prokisch,H., Lamperti,C., Zeviani,M. and Ghezzi,D.
  TITLE     VARS2 and TARS2 mutations in patients with mitochondrial
            encephalomyopathies
  JOURNAL   Hum Mutat 35 (8), 983-989 (2014)
   PUBMED   24827421
  REMARK    GeneRIF: TARS2 mutations caused fatal mitochondrial
            encephalomyopathy in two siblings.
REFERENCE   8  (bases 1 to 2727)
  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   9  (bases 1 to 2727)
  AUTHORS   Bonnefond,L., Fender,A., Rudinger-Thirion,J., Giege,R., Florentz,C.
            and Sissler,M.
  TITLE     Toward the full set of human mitochondrial aminoacyl-tRNA
            synthetases: characterization of AspRS and TyrRS
  JOURNAL   Biochemistry 44 (12), 4805-4816 (2005)
   PUBMED   15779907
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB451526.1, BC009997.2,
            BC007824.2, BM974316.1 and CA426625.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_025150.4.
            
            Summary: This gene encodes a member of the class-II aminoacyl-tRNA
            synthetase family. The encoded protein is a mitochondrial
            aminoacyl-tRNA synthetase. Alternative splicing results in multiple
            transcript variants. A related pseudogene has been identified on
            chromosome 4. [provided by RefSeq, Dec 2012].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC007824.2, SRR1803613.185063.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 15779907; reported by
                                                  MitoCarta
            MANE Ensembl match                 :: ENST00000369064.8/
                                                  ENSP00000358060.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-25                DB451526.1         56-80
            26-57               BC009997.2         1-32
            58-2406             BC007824.2         1-2349
            2407-2721           BM974316.1         14-328              c
            2722-2727           CA426625.1         26-31               c
FEATURES             Location/Qualifiers
     source          1..2727
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.2"
     gene            1..2727
                     /gene="TARS2"
                     /gene_synonym="COXPD21; TARSL1; thrRS"
                     /note="threonyl-tRNA synthetase 2, mitochondrial"
                     /db_xref="GeneID:80222"
                     /db_xref="HGNC:HGNC:30740"
                     /db_xref="MIM:612805"
     exon            1..98
                     /gene="TARS2"
                     /gene_synonym="COXPD21; TARSL1; thrRS"
                     /inference="alignment:Splign:2.1.0"
     CDS             33..2189
                     /gene="TARS2"
                     /gene_synonym="COXPD21; TARSL1; thrRS"
                     /EC_number="6.1.1.3"
                     /note="isoform a is encoded by transcript variant 1;
                     threonyl-tRNA synthetase-like 1; threonine--tRNA ligase,
                     mitochondrial; threonyl-tRNA synthetase 2, mitochondrial
                     (putative)"
                     /codon_start=1
                     /product="threonine--tRNA ligase, mitochondrial isoform a"
                     /protein_id="NP_079426.2"
                     /db_xref="CCDS:CCDS952.1"
                     /db_xref="GeneID:80222"
                     /db_xref="HGNC:HGNC:30740"
                     /db_xref="MIM:612805"
                     /translation="MALYQRWRCLRLQGLQACRLHTAVVSTPPRWLAERLGLFEELWA
                     AQVKRLASMAQKEPRTIKISLPGGQKIDAVAWNTTPYQLARQISSTLADTAVAAQVNG
                     EPYDLERPLETDSDLRFLTFDSPEGKAVFWHSSTHVLGAAAEQFLGAVLCRGPSTEYG
                     FYHDFFLGKERTIRGSELPVLERICQELTAAARPFRRLEASRDQLRQLFKDNPFKLHL
                     IEEKVTGPTATVYGCGTLVDLCQGPHLRHTGQIGGLKLLSNSSSLWRSSGAPETLQRV
                     SGISFPTTELLRVWEAWREEAELRDHRRIGKEQELFFFHELSPGSCFFLPRGTRVYNA
                     LVAFIRAEYAHRGFSEVKTPTLFSTKLWEQSGHWEHYQEDMFAVQPPGSDRPPSSQSD
                     DSTRHITDTLALKPMNCPAHCLMFAHRPRSWRELPLRLADFGALHRAEASGGLGGLTR
                     LRCFQQDDAHIFCTTDQLEAEIQSCLDFLRSVYAVLGFSFRLALSTRPSGFLGDPCLW
                     DQAEQVLKQALKEFGEPWDLNSGDGAFYGPKIDVHLHDALGRPHQCGTIQLDFQLPLR
                     FDLQYKGQAGALERPVLIHRAVLGSVERLLGVLAESCGGKWPLWLSPFQVVVIPVGSE
                     QEEYAKEAQQSLRAAGLVSDLDADSGLTLSRRIRRAQLAHYNFQFVVGQKEQSKRTVN
                     IRTRDNRRLGEWDLPEAVQRLVELQNTRVPNAEEIF"
     exon            99..295
                     /gene="TARS2"
                     /gene_synonym="COXPD21; TARSL1; thrRS"
                     /inference="alignment:Splign:2.1.0"
     exon            296..419
                     /gene="TARS2"
                     /gene_synonym="COXPD21; TARSL1; thrRS"
                     /inference="alignment:Splign:2.1.0"
     exon            420..544
                     /gene="TARS2"
                     /gene_synonym="COXPD21; TARSL1; thrRS"
                     /inference="alignment:Splign:2.1.0"
     exon            545..662
                     /gene="TARS2"
                     /gene_synonym="COXPD21; TARSL1; thrRS"
                     /inference="alignment:Splign:2.1.0"
     exon            663..727
                     /gene="TARS2"
                     /gene_synonym="COXPD21; TARSL1; thrRS"
                     /inference="alignment:Splign:2.1.0"
     exon            728..806
                     /gene="TARS2"
                     /gene_synonym="COXPD21; TARSL1; thrRS"
                     /inference="alignment:Splign:2.1.0"
     exon            807..953
                     /gene="TARS2"
                     /gene_synonym="COXPD21; TARSL1; thrRS"
                     /inference="alignment:Splign:2.1.0"
     exon            954..1052
                     /gene="TARS2"
                     /gene_synonym="COXPD21; TARSL1; thrRS"
                     /inference="alignment:Splign:2.1.0"
     exon            1053..1270
                     /gene="TARS2"
                     /gene_synonym="COXPD21; TARSL1; thrRS"
                     /inference="alignment:Splign:2.1.0"
     exon            1271..1433
                     /gene="TARS2"
                     /gene_synonym="COXPD21; TARSL1; thrRS"
                     /inference="alignment:Splign:2.1.0"
     exon            1434..1571
                     /gene="TARS2"
                     /gene_synonym="COXPD21; TARSL1; thrRS"
                     /inference="alignment:Splign:2.1.0"
     exon            1572..1649
                     /gene="TARS2"
                     /gene_synonym="COXPD21; TARSL1; thrRS"
                     /inference="alignment:Splign:2.1.0"
     exon            1650..1750
                     /gene="TARS2"
                     /gene_synonym="COXPD21; TARSL1; thrRS"
                     /inference="alignment:Splign:2.1.0"
     exon            1751..1852
                     /gene="TARS2"
                     /gene_synonym="COXPD21; TARSL1; thrRS"
                     /inference="alignment:Splign:2.1.0"
     exon            1853..1925
                     /gene="TARS2"
                     /gene_synonym="COXPD21; TARSL1; thrRS"
                     /inference="alignment:Splign:2.1.0"
     exon            1926..2040
                     /gene="TARS2"
                     /gene_synonym="COXPD21; TARSL1; thrRS"
                     /inference="alignment:Splign:2.1.0"
     exon            2041..2727
                     /gene="TARS2"
                     /gene_synonym="COXPD21; TARSL1; thrRS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2702..2707
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TARS2"
                     /gene_synonym="COXPD21; TARSL1; thrRS"
                     /note="hexamer: AATAAA"
     regulatory      2710..2715
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TARS2"
                     /gene_synonym="COXPD21; TARSL1; thrRS"
                     /note="hexamer: AATAAA"
     polyA_site      2721
                     /gene="TARS2"
                     /gene_synonym="COXPD21; TARSL1; thrRS"
                     /note="major polyA site"
     polyA_site      2727
                     /gene="TARS2"
                     /gene_synonym="COXPD21; TARSL1; thrRS"
                     /note="major polyA site"
ORIGIN      
        1 gtttgaggat gtaggcactg gtgtgaagga acatggccct gtatcagagg tggcggtgtc
       61 tccggctcca aggtttacag gcttgcaggc tacacacggc agttgtgtcg acccctccac
      121 gctggttggc agagcggctt ggcctttttg aggagctgtg ggctgctcag gtaaagagat
      181 tagcaagcat ggcacagaag gaaccccgga ctattaagat atcacttcct ggaggccaga
      241 aaattgatgc tgtggcatgg aacacaaccc cctaccaact agcccggcag atcagttcaa
      301 cactggcaga tactgcagtg gctgctcaag tgaatggaga accttatgat ctggagcggc
      361 ccttggagac agattctgac ctcagatttc tgacattcga ttccccagag gggaaagcag
      421 tgttctggca ctccagcacc catgtcctgg gggcagcagc tgaacaattc ctaggtgctg
      481 ttctctgcag aggtccaagt acagaatatg gcttttacca tgatttcttc ctgggaaagg
      541 agaggacaat ccggggctca gagctgcctg ttttggagcg gatttgccag gaacttacag
      601 ctgctgctcg acccttccgg aggctagagg cttcacggga tcagcttcgc cagttgttca
      661 aggataaccc ctttaagctt cacttgattg aggagaaagt gacaggtcca acagcaacag
      721 tatatgggtg tggcacattg gttgaccttt gccagggccc ccaccttcgg catactggac
      781 agattggagg actgaagctg ctatcgaact catcatcctt atggaggtct tcaggggccc
      841 cagagacact gcagagagtg tcagggattt ccttccccac aacagaattg ctgagggtct
      901 gggaagcatg gagggaggaa gcagaattgc gggaccaccg gcgcattggg aaggaacagg
      961 agctcttctt cttccatgaa ctgagccctg ggagctgctt cttcctgcca cgagggacaa
     1021 gggtgtataa tgcactagtg gcgtttatca gggctgagta tgcccatcgt ggtttctccg
     1081 aggtgaaaac tcccacactg ttttctacga agctctggga acagtcaggg cactgggagc
     1141 attatcagga agacatgttt gccgtgcagc ccccaggctc tgacaggcct cccagctccc
     1201 agagtgacga ttctaccagg catatcacag atacactcgc cctcaagcct atgaactgcc
     1261 ctgcacactg cctgatgttc gcccaccggc ccagatcctg gcgggaactg cccctgcgac
     1321 tagctgactt tggggctcta caccgggccg aagcctctgg tggtctgggg ggactgaccc
     1381 gactgcggtg cttccagcag gatgacgctc acatcttctg tacaacagat cagctggaag
     1441 cagagatcca aagctgtctt gatttcctcc gttccgtcta tgccgttctt ggcttctcct
     1501 tccgcctggc actgtccacc cggccatctg gcttcctggg ggacccttgc ctttgggacc
     1561 aggccgaaca ggtccttaaa caggccctga aggaatttgg agaaccctgg gacctcaact
     1621 ctggagatgg tgccttctat ggacctaaga ttgacgtgca cctccacgat gccctgggcc
     1681 ggccacatca gtgtgggaca attcagcttg acttccaact gcccctgaga tttgacctcc
     1741 agtataaggg gcaggcgggt gccctggagc gtccagtcct cattcaccga gcagtgctcg
     1801 gttctgtgga aagactgttg ggagtgctgg cagaaagctg cggggggaaa tggccactgt
     1861 ggctgtcccc gttccaggtg gtggtcatcc ctgtggggag tgagcaagag gaatacgcca
     1921 aagaggcaca gcagagcctg cgggctgcag gactggtcag tgacctggat gcagactctg
     1981 gactgaccct cagccggaga atccgccggg cccagcttgc ccactacaat tttcagtttg
     2041 tggttggcca gaaagagcaa agtaagagaa cagtgaacat tcggactcga gataatcgtc
     2101 gccttgggga gtgggacttg cctgaggctg tgcagcgact ggtggagcta cagaacacga
     2161 gggtcccaaa tgccgaagaa attttctgag cctttgtaca tagatgaggc aaaaacctgc
     2221 gagtgccatc agcctccctc acatgggaga ccccaaccca gctgacaatg tggagccccc
     2281 agaacttcag aactgtgtgg aggcacatgt ctgctctcct gaaaagagac ttggtttggg
     2341 gaccccacaa aaggagggaa gctgtagctg tttggatgtg aggagaatga aactacaaaa
     2401 aaaaataaat tgggccaggc gcagtggctc atgcctgtaa tcccagcact ctgggaggct
     2461 gaggcggacg gatcatgagg tcaggagatc aagaccaccc tggctaacac ggtgaaaccc
     2521 tgtctctact aaaaatacaa aaaattagcc gggcatggtg gcacacgcct gtaatcccag
     2581 ctactcagga ggctgaggca ggagaatcgc ttgaacccgg gaggtagagg ttgcagtgag
     2641 ctgagattgc gccactgcac ccccctaggc gacagagcga gactctgtct ctaaataaat
     2701 aaataaataa ataaatacaa actggaa
//
