LOCUS       NM_003680               2443 bp    mRNA    linear   PRI 13-FEB-2025
DEFINITION  Homo sapiens tyrosyl-tRNA synthetase 1 (YARS1), mRNA.
ACCESSION   NM_003680
VERSION     NM_003680.4
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 2443)
  AUTHORS   Ermanoska,B., Asselbergh,B., Morant,L., Petrovic-Erfurth,M.L.,
            Hosseinibarkooie,S., Leitao-Goncalves,R., Almeida-Souza,L.,
            Bervoets,S., Sun,L., Lee,L., Atkinson,D., Khanghahi,A., Tournev,I.,
            Callaerts,P., Verstreken,P., Yang,X.L., Wirth,B., Rodal,A.A.,
            Timmerman,V., Goode,B.L., Godenschwege,T.A. and Jordanova,A.
  TITLE     Tyrosyl-tRNA synthetase has a noncanonical function in actin
            bundling
  JOURNAL   Nat Commun 14 (1), 999 (2023)
   PUBMED   36890170
  REMARK    GeneRIF: Tyrosyl-tRNA synthetase has a noncanonical function in
            actin bundling.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2443)
  AUTHORS   Averdunk,L., Sticht,H., Surowy,H., Ludecke,H.J., Koch-Hogrebe,M.,
            Alsaif,H.S., Kahrizi,K., Alzaidan,H., Alawam,B.S., Tohary,M.,
            Kraus,C., Endele,S., Wadman,E., Kaplan,J.D., Efthymiou,S.,
            Najmabadi,H., Reis,A., Alkuraya,F.S. and Wieczorek,D.
  TITLE     The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a
            distinct neurodevelopmental phenotype
  JOURNAL   J Mol Med (Berl) 99 (12), 1755-1768 (2021)
   PUBMED   34536092
  REMARK    GeneRIF: The recurrent missense mutation p.(Arg367Trp) in YARS1
            causes a distinct neurodevelopmental phenotype.
            Review article
            Erratum:[J Mol Med (Berl). 2021 Dec;99(12):1769-1770. doi:
            10.1007/s00109-021-02153-4.. PMID: 34661688]
REFERENCE   3  (bases 1 to 2443)
  AUTHORS   Esteve,C., Roman,C., DeLeusse,C., Baravalle,M., Bertaux,K.,
            Blanc,F., Bourgeois,P., Bresson,V., Cano,A., Coste,M.E.,
            Delteil,C., Lacoste,C., Loosveld,M., De Paula,A.M., Monnier,A.S.,
            Secq,V., Levy,N., Badens,C. and Fabre,A.
  TITLE     Novel partial loss-of-function variants in the tyrosyl-tRNA
            synthetase 1 (YARS1) gene involved in multisystem disease
  JOURNAL   Eur J Med Genet 64 (10), 104294 (2021)
   PUBMED   34352414
  REMARK    GeneRIF: Novel partial loss-of-function variants in the
            tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem
            disease.
REFERENCE   4  (bases 1 to 2443)
  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 2443)
  AUTHORS   Zhang,C., Lin,X., Zhao,Q., Wang,Y., Jiang,F., Ji,C., Li,Y., Gao,J.,
            Li,J. and Shen,L.
  TITLE     YARS as an oncogenic protein that promotes gastric cancer
            progression through activating PI3K-Akt signaling
  JOURNAL   J Cancer Res Clin Oncol 146 (2), 329-342 (2020)
   PUBMED   31912229
  REMARK    GeneRIF: By revealing the existence of a YARS-PI3K-Akt signaling
            axis in gastric cancer, we discovered that tRNA synthetase YARS is
            a novel tumorigenic factor, characterized by its upregulation in
            tumor-derived specimens, as well as its functions in promoting
            gastric cancer progression.
REFERENCE   6  (bases 1 to 2443)
  AUTHORS   Wakasugi,K. and Schimmel,P.
  TITLE     Two distinct cytokines released from a human aminoacyl-tRNA
            synthetase
  JOURNAL   Science 284 (5411), 147-151 (1999)
   PUBMED   10102815
REFERENCE   7  (bases 1 to 2443)
  AUTHORS   Wakasugi,K., Quinn,C.L., Tao,N. and Schimmel,P.
  TITLE     Genetic code in evolution: switching species-specific
            aminoacylation with a peptide transplant
  JOURNAL   EMBO J 17 (1), 297-305 (1998)
   PUBMED   9427763
REFERENCE   8  (bases 1 to 2443)
  AUTHORS   Kleeman,T.A., Wei,D., Simpson,K.L. and First,E.A.
  TITLE     Human tyrosyl-tRNA synthetase shares amino acid sequence homology
            with a putative cytokine
  JOURNAL   J Biol Chem 272 (22), 14420-14425 (1997)
   PUBMED   9162081
REFERENCE   9  (bases 1 to 2443)
  AUTHORS   Ribas de Pouplana,L., Frugier,M., Quinn,C.L. and Schimmel,P.
  TITLE     Evidence that two present-day components needed for the genetic
            code appeared after nucleated cells separated from eubacteria
  JOURNAL   Proc Natl Acad Sci U S A 93 (1), 166-170 (1996)
   PUBMED   8552597
REFERENCE   10 (bases 1 to 2443)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Hereditary Neuropathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301532
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC114493.3 and AC114489.2.
            
            On Aug 19, 2020 this sequence version replaced NM_003680.3.
            
            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. Tyrosyl-tRNA synthetase
            belongs to the class I tRNA synthetase family. Cytokine activities
            have also been observed for the human tyrosyl-tRNA synthetase,
            after it is split into two parts, an N-terminal fragment that
            harbors the catalytic site and a C-terminal fragment found only in
            the mammalian enzyme. The N-terminal fragment is an
            interleukin-8-like cytokine, whereas the released C-terminal
            fragment is an EMAP II-like cytokine. [provided by RefSeq, Jul
            2008].
            
            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 :: BC004151.2, AK223608.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373477.9/ ENSP00000362576.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-171               AC114493.3         52208-52378         c
            172-318             AC114493.3         45931-46077         c
            319-494             AC114493.3         45611-45786         c
            495-624             AC114489.2         170679-170808       c
            625-705             AC114489.2         161960-162040       c
            706-798             AC114489.2         155359-155451       c
            799-934             AC114489.2         151137-151272       c
            935-1020            AC114489.2         150559-150644       c
            1021-1156           AC114489.2         146601-146736       c
            1157-1254           AC114489.2         145245-145342       c
            1255-1448           AC114489.2         144282-144475       c
            1449-1590           AC114489.2         143579-143720       c
            1591-2443           AC114489.2         139436-140288       c
FEATURES             Location/Qualifiers
     source          1..2443
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p35.1"
     gene            1..2443
                     /gene="YARS1"
                     /gene_synonym="CMTDIC; IMNEPD2; TYRRS; YARS; YRS; YTS"
                     /note="tyrosyl-tRNA synthetase 1"
                     /db_xref="GeneID:8565"
                     /db_xref="HGNC:HGNC:12840"
                     /db_xref="MIM:603623"
     exon            1..171
                     /gene="YARS1"
                     /gene_synonym="CMTDIC; IMNEPD2; TYRRS; YARS; YRS; YTS"
                     /inference="alignment:Splign:2.1.0"
     CDS             115..1701
                     /gene="YARS1"
                     /gene_synonym="CMTDIC; IMNEPD2; TYRRS; YARS; YRS; YTS"
                     /EC_number="6.1.1.1"
                     /note="tyrosine tRNA ligase 1, cytoplasmic; tyrosyl-tRNA
                     synthetase, cytoplasmic; tyrosyl--tRNA ligase"
                     /codon_start=1
                     /product="tyrosine--tRNA ligase, cytoplasmic"
                     /protein_id="NP_003671.1"
                     /db_xref="CCDS:CCDS368.1"
                     /db_xref="GeneID:8565"
                     /db_xref="HGNC:HGNC:12840"
                     /db_xref="MIM:603623"
                     /translation="MGDAPSPEEKLHLITRNLQEVLGEEKLKEILKERELKIYWGTAT
                     TGKPHVAYFVPMSKIADFLKAGCEVTILFADLHAYLDNMKAPWELLELRVSYYENVIK
                     AMLESIGVPLEKLKFIKGTDYQLSKEYTLDVYRLSSVVTQHDSKKAGAEVVKQVEHPL
                     LSGLLYPGLQALDEEYLKVDAQFGGIDQRKIFTFAEKYLPALGYSKRVHLMNPMVPGL
                     TGSKMSSSEEESKIDLLDRKEDVKKKLKKAFCEPGNVENNGVLSFIKHVLFPLKSEFV
                     ILRDEKWGGNKTYTAYVDLEKDFAAEVVHPGDLKNSVEVALNKLLDPIREKFNTPALK
                     KLASAAYPDPSKQKPMAKGPAKNSEPEEVIPSRLDIRVGKIITVEKHPDADSLYVEKI
                     DVGEAEPRTVVSGLVQFVPKEELQDRLVVVLCNLKPQKMRGVESQGMLLCASIEGINR
                     QVEPLDPPAGSAPGEHVFVKGYEKGQPDEELKPKKKVFEKLQADFKISEECIAQWKQT
                     NFMTKLGSISCKSLKGGNIS"
     exon            172..318
                     /gene="YARS1"
                     /gene_synonym="CMTDIC; IMNEPD2; TYRRS; YARS; YRS; YTS"
                     /inference="alignment:Splign:2.1.0"
     exon            319..494
                     /gene="YARS1"
                     /gene_synonym="CMTDIC; IMNEPD2; TYRRS; YARS; YRS; YTS"
                     /inference="alignment:Splign:2.1.0"
     exon            495..624
                     /gene="YARS1"
                     /gene_synonym="CMTDIC; IMNEPD2; TYRRS; YARS; YRS; YTS"
                     /inference="alignment:Splign:2.1.0"
     exon            625..705
                     /gene="YARS1"
                     /gene_synonym="CMTDIC; IMNEPD2; TYRRS; YARS; YRS; YTS"
                     /inference="alignment:Splign:2.1.0"
     exon            706..798
                     /gene="YARS1"
                     /gene_synonym="CMTDIC; IMNEPD2; TYRRS; YARS; YRS; YTS"
                     /inference="alignment:Splign:2.1.0"
     exon            799..934
                     /gene="YARS1"
                     /gene_synonym="CMTDIC; IMNEPD2; TYRRS; YARS; YRS; YTS"
                     /inference="alignment:Splign:2.1.0"
     exon            935..1020
                     /gene="YARS1"
                     /gene_synonym="CMTDIC; IMNEPD2; TYRRS; YARS; YRS; YTS"
                     /inference="alignment:Splign:2.1.0"
     exon            1021..1156
                     /gene="YARS1"
                     /gene_synonym="CMTDIC; IMNEPD2; TYRRS; YARS; YRS; YTS"
                     /inference="alignment:Splign:2.1.0"
     exon            1157..1254
                     /gene="YARS1"
                     /gene_synonym="CMTDIC; IMNEPD2; TYRRS; YARS; YRS; YTS"
                     /inference="alignment:Splign:2.1.0"
     exon            1255..1448
                     /gene="YARS1"
                     /gene_synonym="CMTDIC; IMNEPD2; TYRRS; YARS; YRS; YTS"
                     /inference="alignment:Splign:2.1.0"
     exon            1449..1590
                     /gene="YARS1"
                     /gene_synonym="CMTDIC; IMNEPD2; TYRRS; YARS; YRS; YTS"
                     /inference="alignment:Splign:2.1.0"
     exon            1591..2443
                     /gene="YARS1"
                     /gene_synonym="CMTDIC; IMNEPD2; TYRRS; YARS; YRS; YTS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1980..1985
                     /regulatory_class="polyA_signal_sequence"
                     /gene="YARS1"
                     /gene_synonym="CMTDIC; IMNEPD2; TYRRS; YARS; YRS; YTS"
                     /note="hexamer: AATATA"
     polyA_site      2002
                     /gene="YARS1"
                     /gene_synonym="CMTDIC; IMNEPD2; TYRRS; YARS; YRS; YTS"
                     /note="major polyA site"
     regulatory      2423..2428
                     /regulatory_class="polyA_signal_sequence"
                     /gene="YARS1"
                     /gene_synonym="CMTDIC; IMNEPD2; TYRRS; YARS; YRS; YTS"
                     /note="hexamer: AATAAA"
     polyA_site      2443
                     /gene="YARS1"
                     /gene_synonym="CMTDIC; IMNEPD2; TYRRS; YARS; YRS; YTS"
                     /note="major polyA site"
ORIGIN      
        1 agctgatgca acctggctgg actcgcgtga cagttcccgg cacgcggcgg cgacggtgac
       61 ccaggaaggg gctctggtgc cgggctgagc gggggaagca ggggtagcgg agccatgggg
      121 gacgctccca gccctgaaga gaaactgcac cttatcaccc ggaacctgca ggaggttctg
      181 ggggaagaga agctgaagga gatactgaag gagcgggaac ttaaaattta ctggggaacg
      241 gcaaccacgg gcaaaccaca tgtggcttac tttgtgccca tgtcaaagat tgcagacttc
      301 ttaaaggcag ggtgtgaggt aacaattctg tttgcggacc tccacgcata cctggataac
      361 atgaaagccc catgggaact tctagaactc cgagtcagtt actatgagaa tgtgatcaaa
      421 gcaatgctgg agagcattgg tgtgcccttg gagaagctca agttcatcaa aggcactgat
      481 taccagctca gcaaagagta cacactagat gtgtacagac tctcctccgt ggtcacacag
      541 cacgattcca agaaggctgg agctgaggtg gtaaagcagg tggagcaccc tttgctgagt
      601 ggcctcttat accccggact gcaggctttg gatgaagagt atttaaaagt agatgcccaa
      661 tttggaggca ttgatcagag aaagattttc acctttgcag agaagtacct ccctgcactt
      721 ggctattcaa aacgggtcca tctgatgaat cctatggttc caggattaac aggcagcaaa
      781 atgagctctt cagaagagga gtccaagatt gatctccttg atcggaagga ggatgtgaag
      841 aaaaaactga agaaggcctt ctgtgagcca ggaaatgtgg agaacaatgg ggttctgtcc
      901 ttcatcaagc atgtcctttt tccccttaag tccgagtttg tgatcctacg agatgagaaa
      961 tggggtggaa acaaaaccta cacagcttac gtggacctgg aaaaggactt tgctgctgag
     1021 gttgtacatc ctggagacct gaagaattct gttgaagtcg cactgaacaa gttgctggat
     1081 ccaatccggg aaaagtttaa tacccctgcc ctgaaaaaac tggccagcgc tgcctaccca
     1141 gatccctcaa agcagaagcc aatggccaaa ggccctgcca agaattcaga accagaggag
     1201 gtcatcccat cccggctgga tatccgtgtg gggaaaatca tcactgtgga gaagcaccca
     1261 gatgcagaca gcctgtatgt agagaagatt gacgtggggg aagctgaacc acggactgtg
     1321 gtgagcggcc tggtacagtt cgtgcccaag gaggaactgc aggacaggct ggtagtggtg
     1381 ctgtgcaacc tgaaacccca gaagatgaga ggagtcgagt cccaaggcat gcttctgtgt
     1441 gcttctatag aagggataaa ccgccaggtt gaacctctgg accctccggc aggctctgct
     1501 cctggtgagc acgtgtttgt gaagggctat gaaaagggcc aaccagatga ggagctcaag
     1561 cccaagaaga aagtcttcga gaagttgcag gctgacttca aaatttctga ggagtgcatc
     1621 gcacagtgga agcaaaccaa cttcatgacc aagctgggct ccatttcctg taaatcgctg
     1681 aaagggggga acattagcta gccagcccag catcttcccc ccttcttcca ccactgagtc
     1741 atctgctgtc tcttcagtct gctccatcca tcacccattt acccatctct caggacacgg
     1801 aagcagcggg tttggactct ttattcggtg cagaactcgg caaggggcag cttaccctcc
     1861 ccagaaccca ggatcatcct gtctggctgc agtgagagac caacccctaa caagggctgg
     1921 gccacagcag ggagtccagc cctaccttct tcccttggca gctggagaaa tctggtttca
     1981 atataactca tttaaaaatt tatgccacag tccttataat tggaaaaata ctggtgccca
     2041 ggttttcttg gagttatcca agcagctgcg cccctagctg ggatctggta cctggactag
     2101 gctaattaca gcttctcccc aacaggaaac tgtgggattt gaaaaggaaa gggaagggaa
     2161 aacagagaac ctagtggtct accaagtggt tggcaacttt cccaatgtct gcttactctg
     2221 aggcttggca ctgggggcca gggcctgccc cagggctcct ggaatttccc ttgatccagc
     2281 taggctggga cactccctaa atcagctgcg tgttgttagc atcaggcaga atgaatggca
     2341 gagagtgatt ctgtcttcat agagggtggg gtacttctcc ataaggcatc tcagtcaaat
     2401 ccccatcact gtcataaatt caaataaaat gtctgaacaa ggg
//
