LOCUS       NM_015836               2787 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens tryptophanyl tRNA synthetase 2, mitochondrial (WARS2),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_015836
VERSION     NM_015836.4
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 2787)
  AUTHORS   Pauly,M.G., Korenke,G.C., Diaw,S.H., Grozinger,A.,
            Cazurro-Gutierrez,A., Perez-Duenas,B., Gonzalez,V., Macaya,A.,
            Serrano Anton,A.T., Peterlin,B., Bozovic,I.B., Maver,A., Munchau,A.
            and Lohmann,K.
  TITLE     The Expanding Phenotypical Spectrum of WARS2-Related Disorder: Four
            Novel Cases with a Common Recurrent Variant
  JOURNAL   Genes (Basel) 14 (4), 822 (2023)
   PUBMED   37107582
  REMARK    GeneRIF: The Expanding Phenotypical Spectrum of WARS2-Related
            Disorder: Four Novel Cases with a Common Recurrent Variant.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2787)
  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 2787)
  AUTHORS   Biros,E., Vangaveti,V. and Moran,C.S.
  TITLE     Mini-TrpRS is essential for IFNgamma-induced monocyte-derived giant
            cell formation
  JOURNAL   Cytokine 142, 155486 (2021)
   PUBMED   33721618
  REMARK    GeneRIF: Mini-TrpRS is essential for IFNgamma-induced
            monocyte-derived giant cell formation.
REFERENCE   4  (bases 1 to 2787)
  AUTHORS   Muso,M., Dumbell,R., Pulit,S., Sinnott-Armstrong,N., Laber,S.,
            Zolkiewski,L., Bentley,L., Claussnitzer,M. and Cox,R.D.
  TITLE     A lead candidate functional single nucleotide polymorphism within
            the WARS2 gene associated with waist-hip-ratio does not alter RNA
            stability
  JOURNAL   Biochim Biophys Acta Gene Regul Mech 1863 (11), 194640 (2020)
   PUBMED   33007465
  REMARK    GeneRIF: A lead candidate functional single nucleotide polymorphism
            within the WARS2 gene associated with waist-hip-ratio does not
            alter RNA stability.
REFERENCE   5  (bases 1 to 2787)
  AUTHORS   Burke,E.A., Frucht,S.J., Thompson,K., Wolfe,L.A., Yokoyama,T.,
            Bertoni,M., Huang,Y., Sincan,M., Adams,D.R., Taylor,R.W.,
            Gahl,W.A., Toro,C. and Malicdan,M.C.V.
  TITLE     Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase
            cause Levodopa-responsive infantile-onset Parkinsonism
  JOURNAL   Clin Genet 93 (3), 712-718 (2018)
   PUBMED   29120065
  REMARK    GeneRIF: This case expands the phenotypic spectrum of WARS2
            deficiency and emphasizes the importance of mitochondrial protein
            synthesis in the pathogenesis of Parkinsonism.
REFERENCE   6  (bases 1 to 2787)
  AUTHORS   Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J.,
            Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and
            Kim,N.S.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   7  (bases 1 to 2787)
  AUTHORS   Liu,J., Shue,E., Ewalt,K.L. and Schimmel,P.
  TITLE     A new gamma-interferon-inducible promoter and splice variants of an
            anti-angiogenic human tRNA synthetase
  JOURNAL   Nucleic Acids Res 32 (2), 719-727 (2004)
   PUBMED   14757836
  REMARK    GeneRIF: tandem promoters provide a dual system to regulate
            expression and alternative splicing of human TrpRS in vivo
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 2787)
  AUTHORS   Jorgensen,R., Sogaard,T.M., Rossing,A.B., Martensen,P.M. and
            Justesen,J.
  TITLE     Identification and characterization of human mitochondrial
            tryptophanyl-tRNA synthetase
  JOURNAL   J Biol Chem 275 (22), 16820-16826 (2000)
   PUBMED   10828066
REFERENCE   9  (bases 1 to 2787)
  AUTHORS   Martinez-Dominguez,M.T., Justesen,J., Kruse,T.A. and Hansen,L.L.
  TITLE     Assignment of the human mitochondrial tryptophanyl-tRNA synthetase
            (WARS2) to 1p13.3-->p13.1 by radiation hybrid mapping
  JOURNAL   Cytogenet Cell Genet 83 (3-4), 249-250 (1998)
   PUBMED   10072595
REFERENCE   10 (bases 1 to 2787)
  AUTHORS   Mroczek,M., Busra,A., Houlden,H., Efthymiou,S. and Nagy,S.
  TITLE     WARS2 Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   37824696
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC044575.1, AL359823.15 and
            AL139420.13.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 3, 2020 this sequence version replaced NM_015836.3.
            
            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. Two forms of tryptophanyl-tRNA
            synthetase exist, a cytoplasmic form, named WARS, and a
            mitochondrial form, named WARS2. This gene encodes the
            mitochondrial tryptophanyl-tRNA synthetase. Two alternative
            transcripts encoding different isoforms have been described.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the shorter
            transcript but encodes the longer protein (isoform 1).
            
            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 :: BC044575.1, SRR1803611.30987.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000235521.5/
                                                  ENSP00000235521.4
            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
            1-156               BC044575.1         3-158
            157-357             AL359823.15        14630-14830         c
            358-1339            BC044575.1         360-1341
            1340-2787           AL139420.13        91518-92965         c
FEATURES             Location/Qualifiers
     source          1..2787
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p12"
     gene            1..2787
                     /gene="WARS2"
                     /gene_synonym="mtTrpRS; NEMMLAS; PKDYS3; TrpRS"
                     /note="tryptophanyl tRNA synthetase 2, mitochondrial"
                     /db_xref="GeneID:10352"
                     /db_xref="HGNC:HGNC:12730"
                     /db_xref="MIM:604733"
     exon            1..99
                     /gene="WARS2"
                     /gene_synonym="mtTrpRS; NEMMLAS; PKDYS3; TrpRS"
                     /inference="alignment:Splign:2.1.0"
     CDS             10..1092
                     /gene="WARS2"
                     /gene_synonym="mtTrpRS; NEMMLAS; PKDYS3; TrpRS"
                     /EC_number="6.1.1.2"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; tryptophan tRNA ligase 2, mitochondrial;
                     (Mt)TrpRS; tryptophan--tRNA ligase, mitochondrial"
                     /codon_start=1
                     /product="tryptophan--tRNA ligase, mitochondrial isoform 1
                     precursor"
                     /protein_id="NP_056651.1"
                     /db_xref="CCDS:CCDS900.1"
                     /db_xref="GeneID:10352"
                     /db_xref="HGNC:HGNC:12730"
                     /db_xref="MIM:604733"
                     /translation="MALHSMRKARERWSFIRALHKGSAAAPALQKDSKKRVFSGIQPT
                     GILHLGNYLGAIESWVRLQDEYDSVLYSIVDLHSITVPQDPAVLRQSILDMTAVLLAC
                     GINPEKSILFQQSQVSEHTQLSWILSCMVRLPRLQHLHQWKAKTTKQKHDGTVGLLTY
                     PVLQAADILLYKSTHVPVGEDQVQHMELVQDLAQGFNKKYGEFFPVPESILTSMKKVK
                     SLRDPSAKMSKSDPDKLATVRITDSPEEIVQKFRKAVTDFTSEVTYDPAGRAGVSNIV
                     AVHAAVTGLSVEEVVRRSAGMNTARYKLAVADAVIEKFAPIKREIEKLKLDKDHLEKV
                     LQIGSAKAKELAYTVCQEVKKLVGFL"
     exon            100..357
                     /gene="WARS2"
                     /gene_synonym="mtTrpRS; NEMMLAS; PKDYS3; TrpRS"
                     /inference="alignment:Splign:2.1.0"
     exon            358..438
                     /gene="WARS2"
                     /gene_synonym="mtTrpRS; NEMMLAS; PKDYS3; TrpRS"
                     /inference="alignment:Splign:2.1.0"
     exon            439..524
                     /gene="WARS2"
                     /gene_synonym="mtTrpRS; NEMMLAS; PKDYS3; TrpRS"
                     /inference="alignment:Splign:2.1.0"
     exon            525..643
                     /gene="WARS2"
                     /gene_synonym="mtTrpRS; NEMMLAS; PKDYS3; TrpRS"
                     /inference="alignment:Splign:2.1.0"
     exon            644..2787
                     /gene="WARS2"
                     /gene_synonym="mtTrpRS; NEMMLAS; PKDYS3; TrpRS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2763..2768
                     /regulatory_class="polyA_signal_sequence"
                     /gene="WARS2"
                     /gene_synonym="mtTrpRS; NEMMLAS; PKDYS3; TrpRS"
                     /note="hexamer: ACTAAA"
     polyA_site      2787
                     /gene="WARS2"
                     /gene_synonym="mtTrpRS; NEMMLAS; PKDYS3; TrpRS"
                     /note="major polyA site"
ORIGIN      
        1 cttctcaaga tggcgctgca ctcaatgcgg aaagcgcgtg agcgctggag cttcatccgg
       61 gcacttcata agggatccgc agctgctccc gctctccaga aagacagcaa gaagcgagta
      121 ttttccggca ttcaacctac aggaatcctc cacctgggca attacctggg agccattgag
      181 agctgggtga ggttacagga tgaatatgac tctgtattat acagcattgt tgacctccac
      241 tccattactg tcccccaaga cccagctgtc cttcggcaga gcatcctgga catgactgct
      301 gttcttcttg cctgtggcat aaacccggaa aaaagcatcc ttttccaaca atctcaggtg
      361 tctgaacaca cacaattaag ttggatcctt tcctgcatgg tcagactacc tcgattacaa
      421 catttacatc agtggaaggc aaagactacc aagcagaagc acgatggcac ggtgggcctg
      481 ctcacatacc cagtactcca ggcagccgac attctgttgt acaagtccac acacgttcct
      541 gttggggagg atcaagtcca gcacatggaa ctagttcagg atctagcaca aggtttcaac
      601 aagaagtatg gggagttctt tccagtgccc gagtccattc tcacatccat gaagaaggta
      661 aaatccctac gtgatccttc tgccaaaatg tcgaaatcag accctgacaa actggccacc
      721 gtccgaataa cagacagccc agaggagata gtgcagaaat tccgcaaggc tgtgacagac
      781 ttcacctcgg aggtcaccta tgacccggct ggccgcgctg gcgtgtccaa catagtggcg
      841 gtgcatgccg cggtgacggg gctctccgtg gaggaagtgg tgcgccgcag cgcgggcatg
      901 aacactgctc gctacaagct ggccgtggca gatgctgtga ttgagaagtt tgccccaatt
      961 aagcgtgaaa ttgaaaaact gaagctggac aaggaccatt tagagaaggt tttacaaatt
     1021 ggatcagcaa aagccaaaga attagcatac actgtgtgcc aggaggtgaa gaaattggtg
     1081 ggttttctat aggaagtttc aacgaatcac agcaaggctt ttgtgccttg cactccatgc
     1141 attctgataa cggcagcttt cctaaaaaga aaaagttata gttttgggac atttaatttg
     1201 gtatagctga ttattggctt tatttgatga atattgcttt gtagctttga aatacgacag
     1261 tgttccaaat cccatcaaca aaatgctgtg aacaacaaca acaaaaaata aatcaagaag
     1321 gcatagctgt ctgaatcccc aattattgag gcacactcct tggcctgcag aaatgtgatt
     1381 gaagtaagga gtaatttggg aaatggagta tcatttgtgc ttctctctgg agtacttact
     1441 gtaacagatg cacacgttat ctacttcaac ccttttataa agcaatatat agaggtctta
     1501 gatgtataat ccttgagatg ccatttgatc agatgccaat ttgtattcag agctcataaa
     1561 aacaagtcca ttcttatagt ttgtttgtca ctgagacggt gcctgattta atatatttaa
     1621 gctgcttaac ttgttttcca agagataaca ccaactgttc cagcaataat ttgtttttta
     1681 attcagagat atgggatatg atcttctaag gaggttgcat tattttgacc tgatttattt
     1741 attgtacaag agcccaagtc cctgaattat attcttaata agtgctttct tgcattcatt
     1801 tcagtttagt ctcaccaacc ccctatgaat taggagaatt attgtcattt tacacatgag
     1861 gaaagtgagg ctgagagaat ccaattagct tgtacgatat cactccataa gagaagcaaa
     1921 tctgagagta aaacccttac cccttattct taagaatagt gcttgtttat tcagtacaaa
     1981 aaaaatgctg aaaggcagcg ttttttagac tctaaacatt ctgattttga aggtgggtgt
     2041 tggaacgact gatgatgttt tttatatcat caattcagcc aatggatgcg aacttaaaat
     2101 ctggattcac agaaccgtgg tcacatttcc ccatcaaaat ccccaaggcg ggtcccaagt
     2161 tctctcctct acgctcattg cagaaatact ttgaaatagg ttctgccagt ctacaatagc
     2221 agtgaagact gacaaatcag atattcccaa tgactgacag cttctcatct tgcctctacc
     2281 tcagttaagt aatgtcaccc tgaaacctag cttttctgca cttccatttc tgacacctga
     2341 aaatgaaaat gataatccta acttatacac caagacctgt tagcaagatc gattttgtaa
     2401 cagaaattgc ttataagttt tttatcagta aggaccatga tcaccatttg tacatacata
     2461 actaggttgt tgagcaaagc atttttgctc atgtttctta aggaagtaga gtagtccttg
     2521 tgtcagaaca catgttaatc cacaaaacgc cccatcccag attccaaatt aaaacatcgt
     2581 ttttaggatt cttggagcta gcctggatca tgggtaaagg aaacattttg ccttttgtat
     2641 cttatactgg aatgggatgt ctgtaagtcc tagaacctct ttgagcatat ttcttacaag
     2701 cctctgtttt ttccccttta aaggaaactt tgaaaggatt gtgaatactg gaaaatgaca
     2761 aaactaaagg tagatctatc aagccaa
//
