LOCUS       NM_024537               1838 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens cysteinyl-tRNA synthetase 2, mitochondrial (CARS2),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_024537
VERSION     NM_024537.4
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 1838)
  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   2  (bases 1 to 1838)
  AUTHORS   Akaike,T., Ida,T., Wei,F.Y., Nishida,M., Kumagai,Y., Alam,M.M.,
            Ihara,H., Sawa,T., Matsunaga,T., Kasamatsu,S., Nishimura,A.,
            Morita,M., Tomizawa,K., Nishimura,A., Watanabe,S., Inaba,K.,
            Shima,H., Tanuma,N., Jung,M., Fujii,S., Watanabe,Y., Ohmuraya,M.,
            Nagy,P., Feelisch,M., Fukuto,J.M. and Motohashi,H.
  TITLE     Cysteinyl-tRNA synthetase governs cysteine polysulfidation and
            mitochondrial bioenergetics
  JOURNAL   Nat Commun 8 (1), 1177 (2017)
   PUBMED   29079736
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1838)
  AUTHORS   Coughlin,C.R. 2nd, Scharer,G.H., Friederich,M.W., Yu,H.C.,
            Geiger,E.A., Creadon-Swindell,G., Collins,A.E., Vanlander,A.V.,
            Coster,R.V., Powell,C.A., Swanson,M.A., Minczuk,M., Van Hove,J.L.
            and Shaikh,T.H.
  TITLE     Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2,
            lead to a severe epileptic encephalopathy and complex movement
            disorder
  JOURNAL   J Med Genet 52 (8), 532-540 (2015)
   PUBMED   25787132
  REMARK    GeneRIF: Mutations in CARS2 result in a mitochondrial translational
            defect as seen in individuals with mitochondrial epileptic
            encephalopathy.
REFERENCE   4  (bases 1 to 1838)
  AUTHORS   Hallmann,K., Zsurka,G., Moskau-Hartmann,S., Kirschner,J.,
            Korinthenberg,R., Ruppert,A.K., Ozdemir,O., Weber,Y., Becker,F.,
            Lerche,H., Elger,C.E., Thiele,H., Nurnberg,P., Sander,T. and
            Kunz,W.S.
  TITLE     A homozygous splice-site mutation in CARS2 is associated with
            progressive myoclonic epilepsy
  JOURNAL   Neurology 83 (23), 2183-2187 (2014)
   PUBMED   25361775
  REMARK    GeneRIF: CARS2 is a novel disease gene associated with a severe
            progressive myoclonic epilepsy most resembling MERRF syndrome
REFERENCE   5  (bases 1 to 1838)
  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 HY150557.1, BC007220.1,
            AK301907.1 and CB047094.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_024537.3.
            
            Summary: This gene encodes a putative member of the class I family
            of aminoacyl-tRNA synthetases. These enzymes play a critical role
            in protein biosynthesis by charging tRNAs with their cognate amino
            acids. This protein is encoded by the nuclear genome but is likely
            to be imported to the mitochondrion where it is thought to catalyze
            the ligation of cysteine to tRNA molecules. A splice-site mutation
            in this gene has been associated with a novel progressive myoclonic
            epilepsy disease with similar symptoms to MERRF syndrome.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Jun 2017].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK022180.1, SRR1163658.42357.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000257347.9/
                                                  ENSP00000257347.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-13                HY150557.1         66-78
            14-874              BC007220.1         1-861
            875-875             AK301907.1         1044-1044
            876-1686            BC007220.1         863-1673
            1687-1838           CB047094.1         543-694
FEATURES             Location/Qualifiers
     source          1..1838
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q34"
     gene            1..1838
                     /gene="CARS2"
                     /gene_synonym="COXPD27; cysRS"
                     /note="cysteinyl-tRNA synthetase 2, mitochondrial"
                     /db_xref="GeneID:79587"
                     /db_xref="HGNC:HGNC:25695"
                     /db_xref="MIM:612800"
     exon            1..247
                     /gene="CARS2"
                     /gene_synonym="COXPD27; cysRS"
                     /inference="alignment:Splign:2.1.0"
     CDS             24..1718
                     /gene="CARS2"
                     /gene_synonym="COXPD27; cysRS"
                     /EC_number="6.1.1.16"
                     /note="isoform 1 is encoded by transcript variant 1;
                     cysteine tRNA ligase 2, mitochondrial (putative); probable
                     cysteine--tRNA ligase, mitochondrial; cysteinyl-tRNA
                     synthetase 2, mitochondrial (putative)"
                     /codon_start=1
                     /product="probable cysteine--tRNA ligase, mitochondrial
                     isoform 1"
                     /protein_id="NP_078813.1"
                     /db_xref="CCDS:CCDS9514.1"
                     /db_xref="GeneID:79587"
                     /db_xref="HGNC:HGNC:25695"
                     /db_xref="MIM:612800"
                     /translation="MLRTTRGPGLGPPLLQAALGLGRAGWHWPAGRAASGGRGRAWLQ
                     PTGRETGVQVYNSLTGRKEPLIVAHAEAASWYSCGPTVYDHAHLGHACSYVRFDIIRR
                     ILTKVFGCSIVMVMGITDVDDKIIKRANEMNISPASLASLYEEDFKQDMAALKVLPPT
                     VYLRVTENIPQIISFIEGIIARGNAYSTAKGNVYFDLKSRGDKYGKLVGVVPGPVGEP
                     ADSDKRHASDFALWKAAKPQEVFWASPWGPGRPGWHIECSAIASMVFGSQLDIHSGGI
                     DLAFPHHENEIAQCEVFHQCEQWGNYFLHSGHLHAKGKEEKMSKSLKNYITIKDFLKT
                     FSPDVFRFFCLRSSYRSAIDYSDSAMLQAQQLLLGLGSFLEDARAYMKGQLACGSVRE
                     AMLWERLSSTKRAVKAALADDFDTPRVVDAILGLAHHGNGQLRASLKEPEGPRSPAVF
                     GAIISYFEQFFETVGISLANQQYVSGDGSEATLHGVVDELVRFRQKVRQFALAMPEAT
                     GDARRQQLLERQPLLEACDTLRRGLTAHGINIKDRSSTTSTWELLDQRTKDQKSAG"
     exon            248..298
                     /gene="CARS2"
                     /gene_synonym="COXPD27; cysRS"
                     /inference="alignment:Splign:2.1.0"
     exon            299..416
                     /gene="CARS2"
                     /gene_synonym="COXPD27; cysRS"
                     /inference="alignment:Splign:2.1.0"
     exon            417..488
                     /gene="CARS2"
                     /gene_synonym="COXPD27; cysRS"
                     /inference="alignment:Splign:2.1.0"
     exon            489..594
                     /gene="CARS2"
                     /gene_synonym="COXPD27; cysRS"
                     /inference="alignment:Splign:2.1.0"
     exon            595..678
                     /gene="CARS2"
                     /gene_synonym="COXPD27; cysRS"
                     /inference="alignment:Splign:2.1.0"
     exon            679..808
                     /gene="CARS2"
                     /gene_synonym="COXPD27; cysRS"
                     /inference="alignment:Splign:2.1.0"
     exon            809..942
                     /gene="CARS2"
                     /gene_synonym="COXPD27; cysRS"
                     /inference="alignment:Splign:2.1.0"
     exon            943..1010
                     /gene="CARS2"
                     /gene_synonym="COXPD27; cysRS"
                     /inference="alignment:Splign:2.1.0"
     exon            1011..1077
                     /gene="CARS2"
                     /gene_synonym="COXPD27; cysRS"
                     /inference="alignment:Splign:2.1.0"
     exon            1078..1216
                     /gene="CARS2"
                     /gene_synonym="COXPD27; cysRS"
                     /inference="alignment:Splign:2.1.0"
     exon            1217..1340
                     /gene="CARS2"
                     /gene_synonym="COXPD27; cysRS"
                     /inference="alignment:Splign:2.1.0"
     exon            1341..1439
                     /gene="CARS2"
                     /gene_synonym="COXPD27; cysRS"
                     /inference="alignment:Splign:2.1.0"
     exon            1440..1646
                     /gene="CARS2"
                     /gene_synonym="COXPD27; cysRS"
                     /inference="alignment:Splign:2.1.0"
     exon            1647..1838
                     /gene="CARS2"
                     /gene_synonym="COXPD27; cysRS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1820..1825
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CARS2"
                     /gene_synonym="COXPD27; cysRS"
                     /note="hexamer: ATTAAA"
     polyA_site      1838
                     /gene="CARS2"
                     /gene_synonym="COXPD27; cysRS"
                     /note="major polyA site"
ORIGIN      
        1 agtcgtaggc gctggccgct gacatgttga ggactacgcg cggcccaggc ctgggccccc
       61 cgctgctcca ggccgcgctg ggccttgggc gggctgggtg gcactggcct gcgggccggg
      121 cggcgagcgg ggggcgcggg cgggcctggc tgcagcccac gggccgggag acgggtgtgc
      181 aggtgtacaa cagcctcacc gggaggaagg aacccctaat cgtggcgcac gccgaagccg
      241 cctcctggta tagctgtgga ccaactgtat atgatcatgc gcaccttggc catgcttgct
      301 catatgttag atttgatatc attcgaagga tcctaaccaa ggtttttgga tgcagcatag
      361 tcatggtgat gggtattaca gatgtagatg ataaaatcat caaaagagcc aatgagatga
      421 atatttcccc cgcttccctc gccagtcttt atgaggaaga cttcaagcag gacatggcag
      481 ccctgaaggt tctcccaccc acggtgtacc tgagggtaac cgaaaatatt cctcagataa
      541 tttctttcat tgaaggaatc attgctcgtg ggaacgctta ttcaacggca aaaggcaatg
      601 tctacttcga tctgaagtct agaggagaca agtatggcaa attggtcggc gtggtccctg
      661 gtccagtcgg agagccagcg gactctgaca agcgtcatgc cagtgacttc gccctgtgga
      721 aggcggccaa accccaggag gtgttctggg cctctccctg gggacccggg aggccgggct
      781 ggcacatcga gtgctctgcc atcgctagta tggtatttgg aagtcaactg gatatccatt
      841 caggtgggat agatttagct tttccacatc atgaaaacga aattgcacag tgcgaagtct
      901 ttcatcagtg cgagcagtgg ggaaattatt ttctgcattc tgggcatttg cacgccaaag
      961 gcaaagaaga aaaaatgtcc aaatcattaa agaactacat tactattaag gactttctga
     1021 agaccttttc ccccgatgtc ttccggttct tctgcctgcg gagcagctac cgctcagcca
     1081 tcgactacag tgacagcgcc atgctccaag ctcagcagct gctcctgggg ctgggctctt
     1141 tcctggagga cgcacgtgcc tacatgaagg ggcagctggc ctgcggctcc gtcagggaag
     1201 cgatgctgtg ggagaggctc tccagcacca agagggccgt gaaggcggcc ttggcagatg
     1261 attttgacac acccagggtg gttgatgcca tcctgggcct tgcacaccac gggaatggac
     1321 agctcagggc gtccctgaag gaacctgaag ggccgagaag tcctgctgtg tttggtgcca
     1381 tcatctctta ctttgaacag ttttttgaaa ctgttggaat ttctctggca aatcaacagt
     1441 acgtttcagg agacggcagc gaggctacct tgcatggtgt ggtggacgag ctggtgcggt
     1501 tccggcagaa ggtccggcag tttgcgctgg ccatgcccga ggccacgggg gacgcccggc
     1561 ggcagcagct cctagaaagg cagcccctgc tggaagcatg cgacaccctg cgccggggcc
     1621 tgactgccca cggcatcaac atcaaggaca gaagcagtac aacatccacg tgggaactgc
     1681 tggatcaaag gacaaaagac caaaaatcag cgggctgagg atggagcaca gccatgaacc
     1741 tgctcacgac aagacgcacc catgcttctc agggtcaagg ctttatgtta aagcttcctg
     1801 tcggggctgc taggtcagca ttaaagtaag gcaaccaa
//
