LOCUS       NM_152295               2672 bp    mRNA    linear   PRI 04-AUG-2024
DEFINITION  Homo sapiens threonyl-tRNA synthetase 1 (TARS1), transcript variant
            1, mRNA.
ACCESSION   NM_152295 NM_003191
VERSION     NM_152295.5
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 2672)
  AUTHORS   Meyer-Schuman,R., Cale,A.R., Pierluissi,J.A., Jonatzke,K.E.,
            Park,Y.N., Lenk,G.M., Oprescu,S.N., Grachtchouk,M.A., Dlugosz,A.A.,
            Beg,A.A., Meisler,M.H. and Antonellis,A.
  TITLE     A model organism pipeline provides insight into the clinical
            heterogeneity of TARS1 loss-of-function variants
  JOURNAL   HGG Adv 5 (3), 100324 (2024)
   PUBMED   38956874
  REMARK    GeneRIF: A model organism pipeline provides insight into the
            clinical heterogeneity of TARS1 loss-of-function variants.
REFERENCE   2  (bases 1 to 2672)
  AUTHORS   Gao,X., Guo,R., Li,Y., Kang,G., Wu,Y., Cheng,J., Jia,J., Wang,W.,
            Li,Z., Wang,A., Xu,H., Jia,Y., Li,Y., Qi,X., Wei,Z. and Wei,C.
  TITLE     Contribution of upregulated aminoacyl-tRNA biosynthesis to
            metabolic dysregulation in gastric cancer
  JOURNAL   J Gastroenterol Hepatol 36 (11), 3113-3126 (2021)
   PUBMED   34159625
  REMARK    GeneRIF: Contribution of upregulated aminoacyl-tRNA biosynthesis to
            metabolic dysregulation in gastric cancer.
REFERENCE   3  (bases 1 to 2672)
  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   4  (bases 1 to 2672)
  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 2672)
  AUTHORS   Theil,A.F., Botta,E., Raams,A., Smith,D.E.C., Mendes,M.I.,
            Caligiuri,G., Giachetti,S., Bione,S., Carriero,R., Liberi,G.,
            Zardoni,L., Swagemakers,S.M.A., Salomons,G.S., Sarasin,A.,
            Lehmann,A., van der Spek,P.J., Ogi,T., Hoeijmakers,J.H.J.,
            Vermeulen,W. and Orioli,D.
  TITLE     Bi-allelic TARS Mutations Are Associated with Brittle Hair
            Phenotype
  JOURNAL   Am J Hum Genet 105 (2), 434-440 (2019)
   PUBMED   31374204
  REMARK    GeneRIF: Bi-allelic TARS Mutations Are Associated with Brittle Hair
            Phenotype.
REFERENCE   6  (bases 1 to 2672)
  AUTHORS   Cruzen,M.E. and Arfin,S.M.
  TITLE     Nucleotide and deduced amino acid sequence of human threonyl-tRNA
            synthetase reveals extensive homology to the Escherichia coli and
            yeast enzymes
  JOURNAL   J Biol Chem 266 (15), 9919-9923 (1991)
   PUBMED   2033077
REFERENCE   7  (bases 1 to 2672)
  AUTHORS   Kontis,K.J. and Arfin,S.M.
  TITLE     Isolation of a cDNA clone for human threonyl-tRNA synthetase:
            amplification of the structural gene in borrelidin-resistant cell
            lines
  JOURNAL   Mol Cell Biol 9 (5), 1832-1838 (1989)
   PUBMED   2747635
REFERENCE   8  (bases 1 to 2672)
  AUTHORS   Gerken,S.C., Wasmuth,J.J. and Arfin,S.M.
  TITLE     Threonyl-tRNA synthetase gene maps close to leucyl-tRNA synthetase
            gene on human chromosome 5
  JOURNAL   Somat Cell Mol Genet 12 (5), 519-522 (1986)
   PUBMED   3464105
REFERENCE   9  (bases 1 to 2672)
  AUTHORS   Pan,F., Lo,K.Y., Pai,S.H. and Lee,H.H.
  TITLE     Kinetic mechanism of threonyl-tRNA synthetase from human placenta
  JOURNAL   Int J Pept Protein Res 20 (2), 159-166 (1982)
   PUBMED   7118437
REFERENCE   10 (bases 1 to 2672)
  AUTHORS   Pan,F., Lee,H.H., Pai,S.H. and Lo,K.Y.
  TITLE     Purification and subunit structure studies of human placental
            threonyl-tRNA synthetase
  JOURNAL   Int J Pept Protein Res 19 (3), 300-309 (1982)
   PUBMED   7118399
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AW246273.1, BC000517.2 and
            AC025441.6.
            
            On Feb 4, 2020 this sequence version replaced NM_152295.4.
            
            Summary: Aminoacyl-tRNA synthetases catalyze the aminoacylation of
            tRNA by their cognate amino acid. Because of their central role in
            linking amino acids with nucleotide triplets contained in tRNAs,
            aminoacyl-tRNA synthetases are thought to be among the first
            proteins that appeared in evolution. Threonyl-tRNA synthetase
            belongs to the class-II aminoacyl-tRNA synthetase family [provided
            by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the smaller protein
            (isoform 1). Variants 1 and 2 encode the same protein.
            
            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 :: BC010578.1, AK315713.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000265112.8/ ENSP00000265112.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-179               AW246273.1         198-376
            180-2370            BC000517.2         138-2328
            2371-2371           AC025441.6         43744-43744
            2372-2672           BC000517.2         2330-2630
FEATURES             Location/Qualifiers
     source          1..2672
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p13.3"
     gene            1..2672
                     /gene="TARS1"
                     /gene_synonym="TARS; ThrRS; TTD7"
                     /note="threonyl-tRNA synthetase 1"
                     /db_xref="GeneID:6897"
                     /db_xref="HGNC:HGNC:11572"
                     /db_xref="MIM:187790"
     exon            1..179
                     /gene="TARS1"
                     /gene_synonym="TARS; ThrRS; TTD7"
                     /inference="alignment:Splign:2.1.0"
     CDS             123..2294
                     /gene="TARS1"
                     /gene_synonym="TARS; ThrRS; TTD7"
                     /EC_number="6.1.1.3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     threonine tRNA ligase 1, cytoplasmic; threonyl-tRNA
                     synthetase, cytoplasmic; threonine--tRNA ligase,
                     cytoplasmic"
                     /codon_start=1
                     /product="threonine--tRNA ligase 1, cytoplasmic isoform 1"
                     /protein_id="NP_689508.3"
                     /db_xref="CCDS:CCDS3899.1"
                     /db_xref="GeneID:6897"
                     /db_xref="HGNC:HGNC:11572"
                     /db_xref="MIM:187790"
                     /translation="MFEEKASSPSGKMGGEEKPIGAGEEKQKEGGKKKNKEGSGDGGR
                     AELNPWPEYIYTRLEMYNILKAEHDSILAEKAEKDSKPIKVTLPDGKQVDAESWKTTP
                     YQIACGISQGLADNTVIAKVNNVVWDLDRPLEEDCTLELLKFEDEEAQAVYWHSSAHI
                     MGEAMERVYGGCLCYGPPIENGFYYDMYLEEGGVSSNDFSSLEALCKKIIKEKQAFER
                     LEVKKETLLAMFKYNKFKCRILNEKVNTPTTTVYRCGPLIDLCRGPHVRHTGKIKALK
                     IHKNSSTYWEGKADMETLQRIYGISFPDPKMLKEWEKFQEEAKNRDHRKIGRDQELYF
                     FHELSPGSCFFLPKGAYIYNALIEFIRSEYRKRGFQEVVTPNIFNSRLWMTSGHWQHY
                     SENMFSFEVEKELFALKPMNCPGHCLMFDHRPRSWRELPLRLADFGVLHRNELSGALT
                     GLTRVRRFQQDDAHIFCAMEQIEDEIKGCLDFLRTVYSVFGFSFKLNLSTRPEKFLGD
                     IEVWDQAEKQLENSLNEFGEKWELNSGDGAFYGPKIDIQIKDAIGRYHQCATIQLDFQ
                     LPIRFNLTYVSHDGDDKKRPVIVHRAILGSVERMIAILTENYGGKWPFWLSPRQVMVV
                     PVGPTCDEYAQKVRQQFHDAKFMADIDLDPGCTLNKKIRNAQLAQYNFILVVGEKEKI
                     SGTVNIRTRDNKVHGERTISETIERLQQLKEFRSKQAEEEF"
     exon            180..260
                     /gene="TARS1"
                     /gene_synonym="TARS; ThrRS; TTD7"
                     /inference="alignment:Splign:2.1.0"
     exon            261..451
                     /gene="TARS1"
                     /gene_synonym="TARS; ThrRS; TTD7"
                     /inference="alignment:Splign:2.1.0"
     exon            452..575
                     /gene="TARS1"
                     /gene_synonym="TARS; ThrRS; TTD7"
                     /inference="alignment:Splign:2.1.0"
     exon            576..697
                     /gene="TARS1"
                     /gene_synonym="TARS; ThrRS; TTD7"
                     /inference="alignment:Splign:2.1.0"
     exon            698..815
                     /gene="TARS1"
                     /gene_synonym="TARS; ThrRS; TTD7"
                     /inference="alignment:Splign:2.1.0"
     exon            816..880
                     /gene="TARS1"
                     /gene_synonym="TARS; ThrRS; TTD7"
                     /inference="alignment:Splign:2.1.0"
     exon            881..959
                     /gene="TARS1"
                     /gene_synonym="TARS; ThrRS; TTD7"
                     /inference="alignment:Splign:2.1.0"
     exon            960..1106
                     /gene="TARS1"
                     /gene_synonym="TARS; ThrRS; TTD7"
                     /inference="alignment:Splign:2.1.0"
     exon            1107..1205
                     /gene="TARS1"
                     /gene_synonym="TARS; ThrRS; TTD7"
                     /inference="alignment:Splign:2.1.0"
     exon            1206..1372
                     /gene="TARS1"
                     /gene_synonym="TARS; ThrRS; TTD7"
                     /inference="alignment:Splign:2.1.0"
     exon            1373..1535
                     /gene="TARS1"
                     /gene_synonym="TARS; ThrRS; TTD7"
                     /inference="alignment:Splign:2.1.0"
     exon            1536..1673
                     /gene="TARS1"
                     /gene_synonym="TARS; ThrRS; TTD7"
                     /inference="alignment:Splign:2.1.0"
     exon            1674..1751
                     /gene="TARS1"
                     /gene_synonym="TARS; ThrRS; TTD7"
                     /inference="alignment:Splign:2.1.0"
     exon            1752..1852
                     /gene="TARS1"
                     /gene_synonym="TARS; ThrRS; TTD7"
                     /inference="alignment:Splign:2.1.0"
     exon            1853..1957
                     /gene="TARS1"
                     /gene_synonym="TARS; ThrRS; TTD7"
                     /inference="alignment:Splign:2.1.0"
     exon            1958..2030
                     /gene="TARS1"
                     /gene_synonym="TARS; ThrRS; TTD7"
                     /inference="alignment:Splign:2.1.0"
     exon            2031..2145
                     /gene="TARS1"
                     /gene_synonym="TARS; ThrRS; TTD7"
                     /inference="alignment:Splign:2.1.0"
     exon            2146..2672
                     /gene="TARS1"
                     /gene_synonym="TARS; ThrRS; TTD7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2498..2503
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TARS1"
                     /gene_synonym="TARS; ThrRS; TTD7"
                     /note="hexamer: AATAAA"
     polyA_site      2520
                     /gene="TARS1"
                     /gene_synonym="TARS; ThrRS; TTD7"
     regulatory      2652..2657
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TARS1"
                     /gene_synonym="TARS; ThrRS; TTD7"
                     /note="hexamer: AATAAA"
     polyA_site      2672
                     /gene="TARS1"
                     /gene_synonym="TARS; ThrRS; TTD7"
                     /note="major polyA site"
ORIGIN      
        1 gattgcatca gctggtccag ccgaggccaa gtcccgggcg ctagcccacc tcccacccgc
       61 ctcttggctc ctctcctcta ggccgtcgct ttcgggttct ctcatcgctt cgtcgttcgc
      121 caatgtttga ggagaaggcc agcagtcctt cagggaagat gggaggcgag gagaagccga
      181 ttggtgctgg tgaagagaag caaaaggaag gaggcaaaaa gaagaacaaa gaaggatctg
      241 gagatggagg tcgagctgag ttgaatcctt ggcctgaata tatttacaca cgtcttgaga
      301 tgtataatat actaaaagca gaacatgatt ccattctggc agaaaaggca gaaaaagata
      361 gcaagccaat taaagtcact ttgcctgatg gtaaacaggt tgatgcggaa tcttggaaaa
      421 ctacaccata tcaaattgcc tgtggaatta gtcaaggcct ggccgacaac accgttattg
      481 ctaaagtaaa taatgttgtg tgggacctgg accgccctct ggaagaagat tgtaccttgg
      541 agcttctcaa gtttgaggat gaggaagctc aggcagtgta ttggcactct agtgctcaca
      601 taatgggtga agccatggaa agagtctatg gtggatgttt atgctacggt ccgccaatag
      661 aaaatggatt ctattatgac atgtacctcg aagaaggggg tgtgtctagc aatgatttct
      721 cttctctgga ggctttgtgt aagaaaatca ttaaagaaaa acaagctttt gaaagactgg
      781 aagttaagaa agaaacttta ctggcaatgt ttaagtacaa caagttcaaa tgccggatat
      841 tgaatgaaaa ggtgaatact ccaactacca cagtctatag atgtggccct ttgatagatc
      901 tctgccgggg tcctcatgtt agacacacgg gcaaaattaa ggctttaaaa atacacaaaa
      961 attcctccac gtactgggaa ggcaaagcag atatggagac tctccagaga atttatggca
     1021 tttcattccc agatcctaaa atgttgaaag agtgggagaa gttccaagag gaagctaaaa
     1081 accgagatca taggaaaatt ggcagggacc aagaactata tttctttcat gaactcagcc
     1141 ctggaagttg cttttttctg ccaaaaggag cctacattta taatgcactt attgaattca
     1201 ttaggagcga atataggaaa agaggattcc aggaggtagt caccccaaac atcttcaaca
     1261 gccgactctg gatgacctcg ggccactggc agcactacag cgagaacatg ttctcctttg
     1321 aggtggagaa ggagctgttt gccctgaaac ccatgaactg cccaggacac tgccttatgt
     1381 ttgatcatcg gccaaggtcc tggcgagaac tgcctctgcg gctagctgat tttggggtac
     1441 ttcataggaa cgagctgtct ggagcactca caggactcac ccgggtacga agattccaac
     1501 aggatgatgc tcacatattc tgtgccatgg agcagattga agatgaaata aaaggttgtt
     1561 tggattttct acgtacggta tatagcgtat ttggattttc ttttaaacta aacctttcta
     1621 ctcgcccgga aaaattcctt ggagatatcg aagtatggga tcaagctgag aaacaacttg
     1681 aaaacagtct gaatgaattt ggtgaaaagt gggagttaaa ctctggagat ggagctttct
     1741 atggcccaaa gattgacata cagattaaag atgcgattgg gcggtaccac cagtgtgcaa
     1801 ccatccagct ggatttccag ttgcccatca gatttaatct tacttatgta agccatgatg
     1861 gtgatgataa gaaaaggcca gtgattgttc atcgagccat cttgggatca gtggaaagaa
     1921 tgattgctat cctcacagaa aactatgggg gcaaatggcc cttttggctg tcccctcgcc
     1981 aggtaatggt agttccagtg ggaccaacct gtgatgaata tgcccaaaag gtacgacaac
     2041 aattccacga tgccaaattc atggcagaca ttgatctgga tccaggctgt acattgaata
     2101 aaaagattcg aaatgcacag ttagcacagt ataacttcat tttagttgtt ggtgaaaaag
     2161 agaaaatcag tggcactgtt aatatccgca caagagacaa taaggtccac ggggaacgca
     2221 ccatttctga aactatcgag cggctacagc agctcaaaga gttccgcagc aaacaggcag
     2281 aagaagaatt ttaatgaaaa aattacccag attggctcca tggaaaagga ggaacagcgt
     2341 ttccgtaaaa ttgactttgt actctgaaaa cgtcaattta tattgaactt ggaggagttt
     2401 ggcaaagtct gaataggtca acctgcaggc gtaactattt ttgacctagt cagtttttaa
     2461 acaatgtgca tttgaaggag ttaattaaaa gagagccaat aaaatgattt tactcattca
     2521 gtatctgagt actggaagtg aaacatgagg aatgctttag tgtaatgtgg gagaactttt
     2581 ttgtaaattt aatgcaattg aaaaagtttt caaattcaat taagataact agaattggat
     2641 tatggtgtaa aaataaaaaa aaaatttatt ca
//
