LOCUS       NM_001040436            2117 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens tyrosyl-tRNA synthetase 2 (YARS2), mRNA; nuclear gene
            for mitochondrial product.
ACCESSION   NM_001040436
VERSION     NM_001040436.3
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 2117)
  AUTHORS   Chen,J.R., Chen,C., Chen,J., Ji,Y., Lian,Y., Zhang,J., Yu,J.,
            Li,X.Y., Qu,J. and Guan,M.X.
  TITLE     Nuclear modifier YARS2 allele correction restored retinal ganglion
            cells-specific deficiencies in Leber's hereditary optic neuropathy
  JOURNAL   Hum Mol Genet 32 (9), 1539-1551 (2023)
   PUBMED   36611011
  REMARK    GeneRIF: Nuclear modifier YARS2 allele correction restored retinal
            ganglion cells-specific deficiencies in Leber's hereditary optic
            neuropathy.
REFERENCE   2  (bases 1 to 2117)
  AUTHORS   Fang,Q., Lin,J., Gao,L., Pan,R. and Zheng,X.
  TITLE     Targeting mitochondrial tyrosyl-tRNA synthetase YARS2 suppresses
            colorectal cancer progression
  JOURNAL   Cancer Biol Ther 23 (1), 1-8 (2022)
   PUBMED   36154909
  REMARK    GeneRIF: Targeting mitochondrial tyrosyl-tRNA synthetase YARS2
            suppresses colorectal cancer progression.
REFERENCE   3  (bases 1 to 2117)
  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   4  (bases 1 to 2117)
  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 2117)
  AUTHORS   Fan,W., Zheng,J., Kong,W., Cui,L., Aishanjiang,M., Yi,Q., Wang,M.,
            Cang,X., Tang,X., Chen,Y., Mo,J.Q., Sondheimer,N., Ge,W. and
            Guan,M.X.
  TITLE     Contribution of a mitochondrial tyrosyl-tRNA synthetase mutation to
            the phenotypic expression of the deafness-associated tRNASer(UCN)
            7511A>G mutation
  JOURNAL   J Biol Chem 294 (50), 19292-19305 (2019)
   PUBMED   31685661
  REMARK    GeneRIF: findings provide molecular-level insights into the
            pathophysiology of maternally transmitted deafness arising from the
            synergy between tRNA(Ser(UCN)) and mitochondrial YARS mutations
REFERENCE   6  (bases 1 to 2117)
  AUTHORS   Riley,L.G., Cooper,S., Hickey,P., Rudinger-Thirion,J., McKenzie,M.,
            Compton,A., Lim,S.C., Thorburn,D., Ryan,M.T., Giege,R., Bahlo,M.
            and Christodoulou,J.
  TITLE     Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2,
            causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA
            syndrome
  JOURNAL   Am J Hum Genet 87 (1), 52-59 (2010)
   PUBMED   20598274
  REMARK    GeneRIF: The YARS2 mutation reported here is an alternative cause
            of MLASA.
REFERENCE   7  (bases 1 to 2117)
  AUTHORS   Bonnefond,L., Frugier,M., Touze,E., Lorber,B., Florentz,C.,
            Giege,R., Sauter,C. and Rudinger-Thirion,J.
  TITLE     Crystal structure of human mitochondrial tyrosyl-tRNA synthetase
            reveals common and idiosyncratic features
  JOURNAL   Structure 15 (11), 1505-1516 (2007)
   PUBMED   17997975
  REMARK    GeneRIF: the structure of a strictly mitochondrial human
            synthetase, namely tyrosyl-tRNA synthetase (mt-TyrRS), in complex
            with an adenylate analog at 2.2 A resolution
REFERENCE   8  (bases 1 to 2117)
  AUTHORS   Szafranski,K., Schindler,S., Taudien,S., Hiller,M., Huse,K.,
            Jahn,N., Schreiber,S., Backofen,R. and Platzer,M.
  TITLE     Violating the splicing rules: TG dinucleotides function as
            alternative 3' splice sites in U2-dependent introns
  JOURNAL   Genome Biol 8 (8), R154 (2007)
   PUBMED   17672918
  REMARK    GeneRIF: the apparent occurrence of an unusual TG 3' splice site in
            intron 5 is discussed
REFERENCE   9  (bases 1 to 2117)
  AUTHORS   Bonnefond,L., Frugier,M., Giege,R. and Rudinger-Thirion,J.
  TITLE     Human mitochondrial TyrRS disobeys the tyrosine identity rules
  JOURNAL   RNA 11 (5), 558-562 (2005)
   PUBMED   15840810
  REMARK    GeneRIF: first example of a TyrRS lacking specificity toward N1-N72
            and thus of a TyrRS disobeying the identity rules
REFERENCE   10 (bases 1 to 2117)
  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
  REMARK    GeneRIF: The gene for mitochondrial tyrosyl-tRNA synthetase is
            described and the initial characterization of the enzyme is
            reported. Genes for the remaining missing synthetases have also
            been found with the exception of human glutaminyl-tRNA synthetase.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA748673.1, BC015625.2,
            BM979973.1, EB386795.1 and AI861961.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_001040436.2.
            
            Summary: This gene encodes a mitochondrial protein that catalyzes
            the attachment of tyrosine to tRNA(Tyr). Mutations in this gene are
            associated with myopathy with lactic acidosis and sideroblastic
            anemia type 2 (MLASA2). [provided by RefSeq, Jan 2011].
            
            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 :: SRR1803616.20663.1,
                                           SRR7410570.498135.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000324868.13/
                                                  ENSP00000320658.8
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-508               DA748673.1         57-564
            509-1637            BC015625.2         488-1616
            1638-1858           BM979973.1         304-524
            1859-2031           EB386795.1         406-578
            2032-2117           AI861961.1         1-86                c
FEATURES             Location/Qualifiers
     source          1..2117
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p11.21"
     gene            1..2117
                     /gene="YARS2"
                     /gene_synonym="CGI-04; MLASA2; MT-TYRRS; TYRRS"
                     /note="tyrosyl-tRNA synthetase 2"
                     /db_xref="GeneID:51067"
                     /db_xref="HGNC:HGNC:24249"
                     /db_xref="MIM:610957"
     exon            1..802
                     /gene="YARS2"
                     /gene_synonym="CGI-04; MLASA2; MT-TYRRS; TYRRS"
                     /inference="alignment:Splign:2.1.0"
     CDS             24..1457
                     /gene="YARS2"
                     /gene_synonym="CGI-04; MLASA2; MT-TYRRS; TYRRS"
                     /EC_number="6.1.1.1"
                     /note="tyrosine tRNA ligase 2, mitochondrial;
                     tyrosine--tRNA ligase, mitochondrial; tyrosyl-tRNA
                     synthetase 2, mitochondrial"
                     /codon_start=1
                     /product="tyrosine--tRNA ligase, mitochondrial precursor"
                     /protein_id="NP_001035526.1"
                     /db_xref="CCDS:CCDS31770.1"
                     /db_xref="GeneID:51067"
                     /db_xref="HGNC:HGNC:24249"
                     /db_xref="MIM:610957"
                     /translation="MAAPILRSFSWGRWSGTLNLSVLLPLGLRKAHSGAQGLLAAQKA
                     RGLFKDFFPETGTKIELPELFDRGTASFPQTIYCGFDPTADSLHVGHLLALLGLFHLQ
                     RAGHNVIALVGGATARLGDPSGRTKEREALETERVRANARALRLGLEALAANHQQLFT
                     DGRSWGSFTVLDNSAWYQKQHLVDFLAAVGGHFRMGTLLSRQSVQLRLKSPEGMSLAE
                     FFYQVLQAYDFYYLFQRYGCRVQLGGSDQLGNIMSGYEFINKLTGEDVFGITVPLITS
                     TTGAKLGKSAGNAVWLNRDKTSPFELYQFFVRQPDDSVERYLKLFTFLPLPEIDHIMQ
                     LHVKEPERRGPQKRLAAEVTKLVHGREGLDSAKRCTQALYHSSIDALEVMSDQELKEL
                     FKEAPFSEFFLDPGTSVLDTCRKANAIPDGPRGYRMITEGGVSINHQQVTNPESVLIV
                     GQHILKNGLSLLKIGKRNFYIIKWLQL"
     exon            803..970
                     /gene="YARS2"
                     /gene_synonym="CGI-04; MLASA2; MT-TYRRS; TYRRS"
                     /inference="alignment:Splign:2.1.0"
     exon            971..1126
                     /gene="YARS2"
                     /gene_synonym="CGI-04; MLASA2; MT-TYRRS; TYRRS"
                     /inference="alignment:Splign:2.1.0"
     exon            1127..1297
                     /gene="YARS2"
                     /gene_synonym="CGI-04; MLASA2; MT-TYRRS; TYRRS"
                     /inference="alignment:Splign:2.1.0"
     exon            1298..2117
                     /gene="YARS2"
                     /gene_synonym="CGI-04; MLASA2; MT-TYRRS; TYRRS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1481..1486
                     /regulatory_class="polyA_signal_sequence"
                     /gene="YARS2"
                     /gene_synonym="CGI-04; MLASA2; MT-TYRRS; TYRRS"
                     /note="hexamer: AATAAA"
     polyA_site      1508
                     /gene="YARS2"
                     /gene_synonym="CGI-04; MLASA2; MT-TYRRS; TYRRS"
     regulatory      1618..1623
                     /regulatory_class="polyA_signal_sequence"
                     /gene="YARS2"
                     /gene_synonym="CGI-04; MLASA2; MT-TYRRS; TYRRS"
                     /note="hexamer: AATAAA"
     polyA_site      1637
                     /gene="YARS2"
                     /gene_synonym="CGI-04; MLASA2; MT-TYRRS; TYRRS"
                     /note="major polyA site"
     regulatory      1716..1721
                     /regulatory_class="polyA_signal_sequence"
                     /gene="YARS2"
                     /gene_synonym="CGI-04; MLASA2; MT-TYRRS; TYRRS"
                     /note="hexamer: ATTATA"
     regulatory      1734..1739
                     /regulatory_class="polyA_signal_sequence"
                     /gene="YARS2"
                     /gene_synonym="CGI-04; MLASA2; MT-TYRRS; TYRRS"
                     /note="hexamer: AAGAAA"
     polyA_site      1739
                     /gene="YARS2"
                     /gene_synonym="CGI-04; MLASA2; MT-TYRRS; TYRRS"
     polyA_site      1757
                     /gene="YARS2"
                     /gene_synonym="CGI-04; MLASA2; MT-TYRRS; TYRRS"
ORIGIN      
        1 attcccttcg tgccgctacc aagatggcgg cgcccatctt gcggtccttt tcctggggcc
       61 ggtggtctgg taccctaaat ctctcagtat tgttgccctt ggggctgcgt aaggcccact
      121 cgggcgctca ggggttactg gcagcgcaga aggctcgagg tctgttcaag gacttcttcc
      181 cggagacggg gacgaaaata gagctcccag agctcttcga ccgtggcacg gcgagttttc
      241 cccaaaccat ttactgtggc ttcgacccca cggcagactc gcttcatgtg ggtcatctac
      301 ttgcgctgct gggcctgttt catttgcagc gagcgggcca caacgtgatc gcgctggtgg
      361 gaggcgccac ggcgcgcctg ggagacccga gcggccgtac caaggaacgc gaggcgctgg
      421 agacagagcg cgtgcgagcc aacgcgcgag ctctgcgcct agggcttgag gccctggcgg
      481 ctaatcacca gcagcttttc actgatgggc gctcctgggg cagcttcact gtgctggaca
      541 actcggcctg gtaccagaag cagcacctgg tggacttcct ggcggcagtg gggggtcact
      601 tccgcatggg gacgctgctg agccggcaga gcgtgcagct gcggctcaag agccccgagg
      661 gcatgagctt ggccgagttc ttttaccagg tgctccaggc ctatgacttc tattacctct
      721 tccagcgtta tggatgcagg gtccagctgg gcggatctga tcaactaggc aacatcatgt
      781 ccggatatga gttcatcaac aagttgactg gagaagatgt atttggaatc accgttcctc
      841 taattacaag tacaactgga gcaaagctgg gaaagtctgc tggcaacgct gtttggctaa
      901 acagagataa gacatctcca tttgaattgt atcaattctt tgtcaggcaa ccggacgatt
      961 cagtggaaag gtacctgaag ctgttcactt tcctgcccct tccagagatt gatcatatca
     1021 tgcagctgca tgtcaaagag ccagaaaggc ggggtcctca gaaacgactg gcagcagaag
     1081 taacaaagct tgttcatgga cgagaaggat tggattctgc taaaaggtgt acacaagccc
     1141 tttatcacag tagcatagat gcactggagg tcatgtctga tcaggagtta aaagagttgt
     1201 ttaaagaagc tccattttct gaattttttc tcgatcctgg aacaagtgtc ctagatactt
     1261 gccgcaaagc aaatgccatt ccagatggtc cccgagggta tcgaatgata acagaaggcg
     1321 gagtcagcat aaatcaccaa caagtaacaa atcctgagag tgttttaatt gttggacaac
     1381 atattctcaa gaatggactt tccttactta aaataggaaa aagaaatttc tacattataa
     1441 aatggcttca gttgtgatga aaagtccttc tggttgtcca aataaactta cccatcattc
     1501 attctcaaga cctctgaagg gttggctcca gaacttagac ctttgcttat gcaaatcaga
     1561 aaaacagaat ggactaggac tcagtgtgag taacttcatt atttttatgg gccggttaat
     1621 aaatatttgt ttaataatgg gatgttttat tttctgatgt acaaagcttg attaccatag
     1681 aaaaccatga ttttcagggt taatctcttt ttaaaattat acttcagaag agaaagaaat
     1741 gctgctttcc tatcttaccc ttcctgctct cctttttgta gtgatgagga acaatgaaaa
     1801 agaggtagtg taaggaattg tgaggctggg catggtggct cacacctgta atcccagcac
     1861 ttcgggaggc caaggtgggc aaatcgcttg aggccaggag tttgagacca gcctggccaa
     1921 cagggcgaaa ccccgtctct actgaaaata taaaaattag ccagatgtgg ttgcaggcac
     1981 ctgtaacccc agctactcaa gaggctgagc tgcgagaatc acttgaaccc aggagatgga
     2041 ggttgcagtg agctgagatc acgccactgc actccagcct gggagacagc atgagtagtg
     2101 agtgaaactc tgtctca
//
