LOCUS       NM_001014437            2737 bp    mRNA    linear   PRI 03-OCT-2024
DEFINITION  Homo sapiens cysteinyl-tRNA synthetase 1 (CARS1), transcript
            variant 3, mRNA.
ACCESSION   NM_001014437
VERSION     NM_001014437.3
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 2737)
  AUTHORS   Yuan,M., Yan,R., Zhang,Y., Qiu,Y., Jiang,Z., Liu,H., Wang,Y.,
            Sun,L., Zhang,H. and Gao,P.
  TITLE     CARS senses cysteine deprivation to activate AMPK for cell survival
  JOURNAL   EMBO J 40 (21), e108028 (2021)
   PUBMED   34472622
  REMARK    GeneRIF: CARS senses cysteine deprivation to activate AMPK for cell
            survival.
REFERENCE   2  (bases 1 to 2737)
  AUTHORS   Cho,S., Kim,S.B., Lee,Y., Song,E.C., Kim,U., Kim,H.Y., Suh,J.H.,
            Goughnour,P.C., Kim,Y., Yoon,I., Shin,N.Y., Kim,D., Kim,I.K.,
            Kang,C.Y., Jang,S.Y., Kim,M.H. and Kim,S.
  TITLE     Endogenous TLR2 ligand embedded in the catalytic region of human
            cysteinyl-tRNA synthetase 1
  JOURNAL   J Immunother Cancer 8 (1) (2020)
   PUBMED   32461342
  REMARK    GeneRIF: Endogenous TLR2 ligand embedded in the catalytic region of
            human cysteinyl-tRNA synthetase 1.
REFERENCE   3  (bases 1 to 2737)
  AUTHORS   Kuo,M.E., Theil,A.F., Kievit,A., Malicdan,M.C., Introne,W.J.,
            Christian,T., Verheijen,F.W., Smith,D.E.C., Mendes,M.I.,
            Hussaarts-Odijk,L., van der Meijden,E., van Slegtenhorst,M.,
            Wilke,M., Vermeulen,W., Raams,A., Groden,C., Shimada,S.,
            Meyer-Schuman,R., Hou,Y.M., Gahl,W.A., Antonellis,A., Salomons,G.S.
            and Mancini,G.M.S.
  TITLE     Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive
            Disease That Includes Microcephaly, Developmental Delay, and
            Brittle Hair and Nails
  JOURNAL   Am J Hum Genet 104 (3), 520-529 (2019)
   PUBMED   30824121
  REMARK    GeneRIF: Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System,
            Recessive Disease That Includes Microcephaly, Developmental Delay,
            and Brittle Hair and Nails.
REFERENCE   4  (bases 1 to 2737)
  AUTHORS   Tian,T., Xiao,L., Du,J., Zhu,X., Gu,Y., Qin,N., Yan,C., Liu,L.,
            Ma,H., Jiang,Y., Chen,J., Yu,H. and Dai,J.
  TITLE     Polymorphisms in CARS are associated with gastric cancer risk: a
            two-stage case-control study in the Chinese population
  JOURNAL   Gastric Cancer 20 (6), 940-947 (2017)
   PUBMED   28409418
  REMARK    GeneRIF: Four single nucleotide polymorphisms (SNPs) of CARS were
            significantly associated with gastric cancer risk in both the
            discovery stage and the validation stage
REFERENCE   5  (bases 1 to 2737)
  AUTHORS   Al-waheeb,S., Alwohhaib,M., Abdelghani,A., Al-Sharrah,S.,
            Al-Shafey,E., Al-Sahow,A., Alyatama,N., Dashti,A.A. and Hussain,N.
  TITLE     Evaluation of associations between single nucleotide polymorphisms
            in the FRMD3 and CARS genes and diabetic nephropathy in a Kuwaiti
            population
  JOURNAL   Genet Mol Res 15 (1) (2016)
   PUBMED   26909942
  REMARK    GeneRIF: The risk (G and C) and non-risk (C and T) allele
            frequencies of the SNPs at the rs1888747 and rs739401 loci of FRMD3
            and CARS, respectively, did not differ significantly between the
            diabetics with (case) and without (control) nephropathy (P > 0.05).
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2737)
  AUTHORS   Cools,J., Wlodarska,I., Somers,R., Mentens,N., Pedeutour,F.,
            Maes,B., De Wolf-Peeters,C., Pauwels,P., Hagemeijer,A. and
            Marynen,P.
  TITLE     Identification of novel fusion partners of ALK, the anaplastic
            lymphoma kinase, in anaplastic large-cell lymphoma and inflammatory
            myofibroblastic tumor
  JOURNAL   Genes Chromosomes Cancer 34 (4), 354-362 (2002)
   PUBMED   12112524
  REMARK    GeneRIF: CARS is a novel fusion partner of anaplastic lymphoma
            kinase in anaplastic large-cell lymphoma and inflammatory
            myofibroblastic tumor cases.
REFERENCE   7  (bases 1 to 2737)
  AUTHORS   Davidson,E., Caffarella,J., Vitseva,O., Hou,Y.M. and King,M.P.
  TITLE     Isolation of two cDNAs encoding functional human cytoplasmic
            cysteinyl-tRNA synthetase
  JOURNAL   Biol Chem 382 (3), 399-406 (2001)
   PUBMED   11347887
REFERENCE   8  (bases 1 to 2737)
  AUTHORS   Kim,J.E., Kim,K.H., Lee,S.W., Seol,W., Shiba,K. and Kim,S.
  TITLE     An elongation factor-associating domain is inserted into human
            cysteinyl-tRNA synthetase by alternative splicing
  JOURNAL   Nucleic Acids Res 28 (15), 2866-2872 (2000)
   PUBMED   10908348
REFERENCE   9  (bases 1 to 2737)
  AUTHORS   Cruzen,M.E. and Arfin,S.M.
  TITLE     Nucleotide and deduced amino acid sequence of human cysteinyl-tRNA
            synthetase
  JOURNAL   DNA Seq 4 (4), 243-248 (1994)
   PUBMED   7987009
REFERENCE   10 (bases 1 to 2737)
  AUTHORS   Cruzen,M.E., Bengtsson,U., McMahon,J., Wasmuth,J.J. and Arfin,S.M.
  TITLE     Assignment of the cysteinyl-tRNA synthetase gene (CARS) to 11p15.5
  JOURNAL   Genomics 15 (3), 692-693 (1993)
   PUBMED   8468064
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX647906.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001014437.2.
            
            Summary: This gene encodes a class 1 aminoacyl-tRNA synthetase,
            cysteinyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA
            synthetases catalyzes the aminoacylation of a specific tRNA or tRNA
            isoaccepting family with the cognate amino acid. This gene is one
            of several located near the imprinted gene domain on chromosome
            11p15.5, an important tumor-suppressor gene region. Alterations in
            this region have been associated with Beckwith-Wiedemann syndrome,
            Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung,
            ovarian and breast cancers. Alternative splicing of this gene
            results in multiple transcript variants. [provided by RefSeq, Aug
            2010].
            
            Transcript Variant: This variant (3) includes an additional
            in-frame exon in the 5' coding region, and uses an alternate splice
            site that causes a frameshift in the 3' coding region, compared to
            variant 1. The encoded isoform (c) has an additional segment in the
            N-terminal region and a distinct and longer C-terminus, compared to
            isoform a.
            
            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 :: BX647906.1, AK302644.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000380525.9/ ENSP00000369897.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2737              BX647906.1         3-2739
FEATURES             Location/Qualifiers
     source          1..2737
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..2737
                     /gene="CARS1"
                     /gene_synonym="CARS; CYSRS; MCDDBH; MDBH; MGC:11246"
                     /note="cysteinyl-tRNA synthetase 1"
                     /db_xref="GeneID:833"
                     /db_xref="HGNC:HGNC:1493"
                     /db_xref="MIM:123859"
     exon            1..81
                     /gene="CARS1"
                     /gene_synonym="CARS; CYSRS; MCDDBH; MDBH; MGC:11246"
                     /inference="alignment:Splign:2.1.0"
     CDS             57..2552
                     /gene="CARS1"
                     /gene_synonym="CARS; CYSRS; MCDDBH; MDBH; MGC:11246"
                     /EC_number="6.1.1.16"
                     /note="isoform c is encoded by transcript variant 3;
                     cysteine tRNA ligase 1, cytoplasmic; cysteine translase;
                     cysteine--tRNA ligase, cytoplasmic"
                     /codon_start=1
                     /product="cysteine--tRNA ligase, cytoplasmic isoform c"
                     /protein_id="NP_001014437.1"
                     /db_xref="CCDS:CCDS41600.1"
                     /db_xref="GeneID:833"
                     /db_xref="HGNC:HGNC:1493"
                     /db_xref="MIM:123859"
                     /translation="MADSSGQQAPDYRSILSISDEAARAQALNEHLSTRSYVQGYSLS
                     QADVDAFRQLSAPPADPQLFHVARWFRHIEALLGSPCGKGQPCRLQASKGRRVQPQWS
                     PPAGTQPCRLHLYNSLTRNKEVFIPQDGKKVTWYCCGPTVYDASHMGHARSYISFDIL
                     RRVLKDYFKFDVFYCMNITDIDDKIIKRARQNHLFEQYREKRPEAAQLLEDVQAALKP
                     FSVKLNETTDPDKKQMLERIQHAVQLATEPLEKAVQSRLTGEEVNSCVEVLLEEAKDL
                     LSDWLDSTLGCDVTDNSIFSKLPKFWEGDFHRDMEALNVLPPDVLTRVSEYVPEIVNF
                     VQKIVDNGYGYVSNGSVYFDTAKFASSEKHSYGKLVPEAVGDQKALQEGEGDLSISAD
                     RLSEKRSPNDFALWKASKPGEPSWPCPWGKGRPGWHIECSAMAGTLLGASMDIHGGGF
                     DLRFPHHDNELAQSEAYFENDCWVRYFLHTGHLTIAGCKMSKSLKNFITIKDALKKHS
                     ARQLRLAFLMHSWKDTLDYSSNTMESALQYEKFLNEFFLNVKDILRAPVDITGQFEKW
                     GEEEAELNKNFYDKKTAIHKALCDNVDTRTVMEEMRALVSQCNLYMAARKAVRKRPNQ
                     ALLENIALYLTHMLKIFGAVEEDSSLGFPVGGPGTSLSLEATVMPYLQVLSEFREGVR
                     KIAREQKVPEILQLSDALRDNILPELGVRFEDHEGLPTVVKLVDRNTLLKEREEKRRV
                     EEEKRKKKEEAARRKQEQEAAKLAKMKIPPSEMFLSETDKYSKFDENGLPTHDMEGKE
                     LSKGQAKKLKKLFEAQEKLYKEYLQMAQNGSFQ"
     exon            82..330
                     /gene="CARS1"
                     /gene_synonym="CARS; CYSRS; MCDDBH; MDBH; MGC:11246"
                     /inference="alignment:Splign:2.1.0"
     exon            331..422
                     /gene="CARS1"
                     /gene_synonym="CARS; CYSRS; MCDDBH; MDBH; MGC:11246"
                     /inference="alignment:Splign:2.1.0"
     exon            423..511
                     /gene="CARS1"
                     /gene_synonym="CARS; CYSRS; MCDDBH; MDBH; MGC:11246"
                     /inference="alignment:Splign:2.1.0"
     exon            512..608
                     /gene="CARS1"
                     /gene_synonym="CARS; CYSRS; MCDDBH; MDBH; MGC:11246"
                     /inference="alignment:Splign:2.1.0"
     exon            609..707
                     /gene="CARS1"
                     /gene_synonym="CARS; CYSRS; MCDDBH; MDBH; MGC:11246"
                     /inference="alignment:Splign:2.1.0"
     exon            708..857
                     /gene="CARS1"
                     /gene_synonym="CARS; CYSRS; MCDDBH; MDBH; MGC:11246"
                     /inference="alignment:Splign:2.1.0"
     exon            858..998
                     /gene="CARS1"
                     /gene_synonym="CARS; CYSRS; MCDDBH; MDBH; MGC:11246"
                     /inference="alignment:Splign:2.1.0"
     exon            999..1087
                     /gene="CARS1"
                     /gene_synonym="CARS; CYSRS; MCDDBH; MDBH; MGC:11246"
                     /inference="alignment:Splign:2.1.0"
     exon            1088..1209
                     /gene="CARS1"
                     /gene_synonym="CARS; CYSRS; MCDDBH; MDBH; MGC:11246"
                     /inference="alignment:Splign:2.1.0"
     exon            1210..1322
                     /gene="CARS1"
                     /gene_synonym="CARS; CYSRS; MCDDBH; MDBH; MGC:11246"
                     /inference="alignment:Splign:2.1.0"
     exon            1323..1451
                     /gene="CARS1"
                     /gene_synonym="CARS; CYSRS; MCDDBH; MDBH; MGC:11246"
                     /inference="alignment:Splign:2.1.0"
     exon            1452..1581
                     /gene="CARS1"
                     /gene_synonym="CARS; CYSRS; MCDDBH; MDBH; MGC:11246"
                     /inference="alignment:Splign:2.1.0"
     exon            1582..1685
                     /gene="CARS1"
                     /gene_synonym="CARS; CYSRS; MCDDBH; MDBH; MGC:11246"
                     /inference="alignment:Splign:2.1.0"
     exon            1686..1783
                     /gene="CARS1"
                     /gene_synonym="CARS; CYSRS; MCDDBH; MDBH; MGC:11246"
                     /inference="alignment:Splign:2.1.0"
     exon            1784..1973
                     /gene="CARS1"
                     /gene_synonym="CARS; CYSRS; MCDDBH; MDBH; MGC:11246"
                     /inference="alignment:Splign:2.1.0"
     exon            1974..2042
                     /gene="CARS1"
                     /gene_synonym="CARS; CYSRS; MCDDBH; MDBH; MGC:11246"
                     /inference="alignment:Splign:2.1.0"
     exon            2043..2124
                     /gene="CARS1"
                     /gene_synonym="CARS; CYSRS; MCDDBH; MDBH; MGC:11246"
                     /inference="alignment:Splign:2.1.0"
     exon            2125..2205
                     /gene="CARS1"
                     /gene_synonym="CARS; CYSRS; MCDDBH; MDBH; MGC:11246"
                     /inference="alignment:Splign:2.1.0"
     exon            2206..2273
                     /gene="CARS1"
                     /gene_synonym="CARS; CYSRS; MCDDBH; MDBH; MGC:11246"
                     /inference="alignment:Splign:2.1.0"
     exon            2274..2333
                     /gene="CARS1"
                     /gene_synonym="CARS; CYSRS; MCDDBH; MDBH; MGC:11246"
                     /inference="alignment:Splign:2.1.0"
     exon            2334..2417
                     /gene="CARS1"
                     /gene_synonym="CARS; CYSRS; MCDDBH; MDBH; MGC:11246"
                     /inference="alignment:Splign:2.1.0"
     exon            2418..2737
                     /gene="CARS1"
                     /gene_synonym="CARS; CYSRS; MCDDBH; MDBH; MGC:11246"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2716..2721
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CARS1"
                     /gene_synonym="CARS; CYSRS; MCDDBH; MDBH; MGC:11246"
                     /note="hexamer: AATAAA"
     polyA_site      2737
                     /gene="CARS1"
                     /gene_synonym="CARS; CYSRS; MCDDBH; MDBH; MGC:11246"
                     /note="major polyA site"
ORIGIN      
        1 gcatcagatt ctaggaagtg tctgtagccg cagctgcggg tccgggattc ccagccatgg
       61 cagattcctc cgggcagcag gctcctgact acaggtccat tctgagcatt agtgacgagg
      121 cagccagggc acaagccctg aacgagcacc tcagcacgcg tagctatgtc caggggtact
      181 cactgtccca ggcagacgtg gacgcgttca ggcagctctc ggccccgccc gctgaccccc
      241 agctcttcca cgtggctcgg tggttcaggc acatagaagc gctcctgggt agcccctgtg
      301 gcaaaggcca gccctgcagg ctccaagcaa gcaaaggccg gcgtgtgcag ccccagtggt
      361 cccctcctgc tgggacccag ccatgcagac tccaccttta caacagcctc accaggaaca
      421 aggaagtgtt catacctcaa gatgggaaaa aggtgacgtg gtattgctgt gggccaaccg
      481 tctatgacgc atctcacatg gggcacgcca ggtcctacat ctcttttgat atcttgagaa
      541 gagtgttgaa ggattacttc aaatttgatg tcttttattg catgaacatt acggatattg
      601 atgacaagat catcaagagg gcccggcaga accacctgtt cgagcagtat cgggagaaga
      661 ggcctgaagc ggcacagctc ttggaggatg ttcaggccgc cctgaagcca ttttcagtaa
      721 aattaaatga gaccacggat cccgataaaa agcagatgct cgaacggatt cagcacgcag
      781 tgcagcttgc cacagagcca cttgagaaag ctgtgcagtc cagactcacg ggagaggaag
      841 tcaacagctg tgtggaggtg ttgctggaag aagccaagga tttgctctct gactggctgg
      901 attctacact tggctgtgat gtcactgaca attccatctt ctccaagctg cccaagttct
      961 gggaggggga cttccacaga gacatggaag ctctgaatgt tctccctcca gatgtcttaa
     1021 cccgggttag tgagtatgtg ccagaaattg tgaactttgt ccagaagatt gtggacaacg
     1081 gttacggcta tgtctccaat gggtctgtct actttgatac agcgaagttt gcttctagcg
     1141 agaagcactc ctatgggaag ctggtgcctg aggccgttgg agatcagaaa gcccttcaag
     1201 aaggggaagg tgacctgagc atctctgcag accgcctgag tgagaagcgc tctcccaacg
     1261 actttgcctt atggaaggcc tctaagcccg gagaaccgtc ctggccgtgc ccttggggaa
     1321 agggtcgtcc gggctggcat atcgagtgct cggccatggc aggcaccctc ctaggggctt
     1381 cgatggacat tcacggaggt gggttcgacc tccggttccc ccaccatgac aatgagctgg
     1441 cacagtcgga ggcctacttt gaaaacgact gctgggtcag gtacttcctg cacacaggcc
     1501 acctgaccat tgcaggctgc aaaatgtcaa agtcactaaa aaacttcatc accattaaag
     1561 atgccttgaa aaagcactca gcacggcagt tgcggctggc cttcctcatg cactcgtgga
     1621 aggacaccct ggactactcc agcaacacca tggagtcagc gcttcaatat gagaagttct
     1681 tgaatgagtt tttcttaaat gtgaaagata tccttcgcgc tcctgttgac atcactggtc
     1741 agtttgagaa gtggggagaa gaagaagcag aactgaataa gaacttttat gacaagaaga
     1801 cagcaattca caaagccctc tgtgacaatg ttgacacccg caccgtcatg gaagagatgc
     1861 gggccttggt cagtcagtgc aacctctata tggcagcccg gaaagccgtg aggaagaggc
     1921 ccaaccaggc tctgctggag aacatcgccc tgtacctcac ccatatgctg aagatctttg
     1981 gggccgtaga agaggacagc tccctgggat tcccggtcgg agggcctgga accagcctca
     2041 gtctcgaggc cacagtcatg ccctaccttc aggtgttatc agaattccga gaaggagtgc
     2101 ggaagattgc ccgagagcaa aaagtccctg agattctgca gctcagcgat gccctgcggg
     2161 acaacatcct gcccgagctt ggggtgcggt ttgaagacca cgaaggactg cccacagtgg
     2221 tgaaactggt agacagaaac accttattaa aagagagaga agaaaagaga cgggttgaag
     2281 aggagaagag gaagaagaaa gaggaggcgg cccggaggaa acaggaacaa gaagcagcaa
     2341 agctggccaa gatgaagatt ccccccagtg agatgttctt gtcagaaacc gacaaatact
     2401 ccaagtttga tgaaaatggt ctgcccacac atgacatgga gggcaaagag ctcagcaaag
     2461 ggcaagccaa gaagctgaag aagctcttcg aggctcagga gaagctctac aaggaatatc
     2521 tgcagatggc ccagaatgga agcttccagt gagggggcac aggactgact ttttaaacca
     2581 ttgtggacta gtggctgctg tctgcctcag tgacaatgtc ccagcgctcc tatcatgttt
     2641 acagtcaccc ttgggtccta aattaagagt tgtgttcatg taggttcgtg tcgtcgttgg
     2701 ctctgagaca ttgataataa atttttctca acagtga
//
