LOCUS       NM_004990               2797 bp    mRNA    linear   PRI 07-FEB-2025
DEFINITION  Homo sapiens methionyl-tRNA synthetase 1 (MARS1), mRNA.
ACCESSION   NM_004990
VERSION     NM_004990.4
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 2797)
  AUTHORS   La Fay,C., Hoebeke,C., Juzaud,M., Spraul,A., Heux,P., Dubus,J.C.,
            Hadchouel,A. and Fabre,A.
  TITLE     Deep phenotyping of MARS1 (interstitial lung and liver disease) and
            LARS1 (infantile liver failure syndrome 1) recessive multisystemic
            disease using Human Phenotype Ontology annotation: Overlap and
            differences. Case report and review of literature
  JOURNAL   Eur J Med Genet 64 (11), 104334 (2021)
   PUBMED   34496286
  REMARK    GeneRIF: Deep phenotyping of MARS1 (interstitial lung and liver
            disease) and LARS1 (infantile liver failure syndrome 1) recessive
            multisystemic disease using Human Phenotype Ontology annotation:
            Overlap and differences. Case report and review of literature.
            Review article
REFERENCE   2  (bases 1 to 2797)
  AUTHORS   Botta,E., Theil,A.F., Raams,A., Caligiuri,G., Giachetti,S.,
            Bione,S., Accadia,M., Lombardi,A., Smith,D.E.C., Mendes,M.I.,
            Swagemakers,S.M.A., van der Spek,P.J., Salomons,G.S.,
            Hoeijmakers,J.H.J., Yesodharan,D., Nampoothiri,S., Ogi,T.,
            Lehmann,A.R., Orioli,D. and Vermeulen,W.
  TITLE     Protein instability associated with AARS1 and MARS1 mutations
            causes trichothiodystrophy
  JOURNAL   Hum Mol Genet 30 (18), 1711-1720 (2021)
   PUBMED   33909043
  REMARK    GeneRIF: Protein instability associated with AARS1 and MARS1
            mutations causes trichothiodystrophy.
REFERENCE   3  (bases 1 to 2797)
  AUTHORS   Kim,D.K., Lee,H.J., Kong,J., Cho,H.Y., Kim,S. and Kang,B.S.
  TITLE     Structural basis for the dynamics of human methionyl-tRNA
            synthetase in multi-tRNA synthetase complexes
  JOURNAL   Nucleic Acids Res 49 (11), 6549-6568 (2021)
   PUBMED   34086935
  REMARK    GeneRIF: Structural basis for the dynamics of human methionyl-tRNA
            synthetase in multi-tRNA synthetase complexes.
REFERENCE   4  (bases 1 to 2797)
  AUTHORS   Rho,S.B., Kim,M.J., Lee,J.S., Seol,W., Motegi,H., Kim,S. and
            Shiba,K.
  TITLE     Genetic dissection of protein-protein interactions in multi-tRNA
            synthetase complex
  JOURNAL   Proc Natl Acad Sci U S A 96 (8), 4488-4493 (1999)
   PUBMED   10200289
REFERENCE   5  (bases 1 to 2797)
  AUTHORS   Quevillon,S., Robinson,J.C., Berthonneau,E., Siatecka,M. and
            Mirande,M.
  TITLE     Macromolecular assemblage of aminoacyl-tRNA synthetases:
            identification of protein-protein interactions and characterization
            of a core protein
  JOURNAL   J Mol Biol 285 (1), 183-195 (1999)
   PUBMED   9878398
REFERENCE   6  (bases 1 to 2797)
  AUTHORS   Lage,H. and Dietel,M.
  TITLE     Cloning of a human cDNA encoding a protein with high homology to
            yeast methionyl-tRNA synthetase
  JOURNAL   Gene 178 (1-2), 187-189 (1996)
   PUBMED   8921912
REFERENCE   7  (bases 1 to 2797)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
REFERENCE   8  (bases 1 to 2797)
  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
REFERENCE   9  (bases 1 to 2797)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Neuropathy Type 2 - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301462
REFERENCE   10 (bases 1 to 2797)
  AUTHORS   Cirullo,R.E. and Wasmuth,J.J.
  TITLE     Assignment of the human MARS gene, encoding methioninyl-tRNA
            synthetase, to chromosome 12 using human X Chinese hamster cell
            hybrids
  JOURNAL   Somat Cell Mol Genet 10 (3), 225-234 (1984)
   PUBMED   6585969
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from D84224.1 and BC011849.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_004990.3.
            
            Summary: This gene encodes a 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. The encoded protein is a component of the multi-tRNA
            synthetase complex and catalyzes the ligation of methionine to tRNA
            molecules. [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 :: D84224.1, SRR3476690.762524.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000262027.10/ ENSP00000262027.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2795              D84224.1           1-2795
            2796-2797           BC011849.2         2779-2780
FEATURES             Location/Qualifiers
     source          1..2797
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.3"
     gene            1..2797
                     /gene="MARS1"
                     /gene_synonym="CMT2U; ILFS2; ILLD; MARS; METRS; MRS;
                     MTRNS; SPG70; TTD9"
                     /note="methionyl-tRNA synthetase 1"
                     /db_xref="GeneID:4141"
                     /db_xref="HGNC:HGNC:6898"
                     /db_xref="MIM:156560"
     exon            1..132
                     /gene="MARS1"
                     /gene_synonym="CMT2U; ILFS2; ILLD; MARS; METRS; MRS;
                     MTRNS; SPG70; TTD9"
                     /inference="alignment:Splign:2.1.0"
     CDS             24..2726
                     /gene="MARS1"
                     /gene_synonym="CMT2U; ILFS2; ILLD; MARS; METRS; MRS;
                     MTRNS; SPG70; TTD9"
                     /EC_number="6.1.1.10"
                     /note="cytosolic methionyl-tRNA synthetase"
                     /codon_start=1
                     /product="methionine--tRNA ligase, cytoplasmic"
                     /protein_id="NP_004981.2"
                     /db_xref="CCDS:CCDS8942.1"
                     /db_xref="GeneID:4141"
                     /db_xref="HGNC:HGNC:6898"
                     /db_xref="MIM:156560"
                     /translation="MRLFVSDGVPGCLPVLAAAGRARGRAEVLISTVGPEDCVVPFLT
                     RPKVPVLQLDSGNYLFSTSAICRYFFLLSGWEQDDLTNQWLEWEATELQPALSAALYY
                     LVVQGKKGEDVLGSVRRALTHIDHSLSRQNCPFLAGETESLADIVLWGALYPLLQDPA
                     YLPEELSALHSWFQTLSTQEPCQRAAETVLKQQGVLALRPYLQKQPQPSPAEGRAVTN
                     EPEEEELATLSEEEIAMAVTAWEKGLESLPPLRPQQNPVLPVAGERNVLITSALPYVN
                     NVPHLGNIIGCVLSADVFARYSRLRQWNTLYLCGTDEYGTATETKALEEGLTPQEICD
                     KYHIIHADIYRWFNISFDIFGRTTTPQQTKITQDIFQQLLKRGFVLQDTVEQLRCEHC
                     ARFLADRFVEGVCPFCGYEEARGDQCDKCGKLINAVELKKPQCKVCRSCPVVQSSQHL
                     FLDLPKLEKRLEEWLGRTLPGSDWTPNAQFITRSWLRDGLKPRCITRDLKWGTPVPLE
                     GFEDKVFYVWFDATIGYLSITANYTDQWERWWKNPEQVDLYQFMAKDNVPFHSLVFPC
                     SALGAEDNYTLVSHLIATEYLNYEDGKFSKSRGVGVFGDMAQDTGIPADIWRFYLLYI
                     RPEGQDSAFSWTDLLLKNNSELLNNLGNFINRAGMFVSKFFGGYVPEMVLTPDDQRLL
                     AHVTLELQHYHQLLEKVRIRDALRSILTISRHGNQYIQVNEPWKRIKGSEADRQRAGT
                     VTGLAVNIAALLSVMLQPYMPTVSATIQAQLQLPPPACSILLTNFLCTLPAGHQIGTV
                     SPLFQKLENDQIESLRQRFGGGQAKTSPKPAVVETVTTAKPQQIQALMDEVTKQGNIV
                     RELKAQKADKNEVAAEVAKLLDLKKQLAVAEGKPPEAPKGKKKK"
     exon            133..223
                     /gene="MARS1"
                     /gene_synonym="CMT2U; ILFS2; ILLD; MARS; METRS; MRS;
                     MTRNS; SPG70; TTD9"
                     /inference="alignment:Splign:2.1.0"
     exon            224..302
                     /gene="MARS1"
                     /gene_synonym="CMT2U; ILFS2; ILLD; MARS; METRS; MRS;
                     MTRNS; SPG70; TTD9"
                     /inference="alignment:Splign:2.1.0"
     exon            303..437
                     /gene="MARS1"
                     /gene_synonym="CMT2U; ILFS2; ILLD; MARS; METRS; MRS;
                     MTRNS; SPG70; TTD9"
                     /inference="alignment:Splign:2.1.0"
     exon            438..513
                     /gene="MARS1"
                     /gene_synonym="CMT2U; ILFS2; ILLD; MARS; METRS; MRS;
                     MTRNS; SPG70; TTD9"
                     /inference="alignment:Splign:2.1.0"
     exon            514..686
                     /gene="MARS1"
                     /gene_synonym="CMT2U; ILFS2; ILLD; MARS; METRS; MRS;
                     MTRNS; SPG70; TTD9"
                     /inference="alignment:Splign:2.1.0"
     exon            687..793
                     /gene="MARS1"
                     /gene_synonym="CMT2U; ILFS2; ILLD; MARS; METRS; MRS;
                     MTRNS; SPG70; TTD9"
                     /inference="alignment:Splign:2.1.0"
     exon            794..910
                     /gene="MARS1"
                     /gene_synonym="CMT2U; ILFS2; ILLD; MARS; METRS; MRS;
                     MTRNS; SPG70; TTD9"
                     /inference="alignment:Splign:2.1.0"
     exon            911..1114
                     /gene="MARS1"
                     /gene_synonym="CMT2U; ILFS2; ILLD; MARS; METRS; MRS;
                     MTRNS; SPG70; TTD9"
                     /inference="alignment:Splign:2.1.0"
     exon            1115..1316
                     /gene="MARS1"
                     /gene_synonym="CMT2U; ILFS2; ILLD; MARS; METRS; MRS;
                     MTRNS; SPG70; TTD9"
                     /inference="alignment:Splign:2.1.0"
     exon            1317..1391
                     /gene="MARS1"
                     /gene_synonym="CMT2U; ILFS2; ILLD; MARS; METRS; MRS;
                     MTRNS; SPG70; TTD9"
                     /inference="alignment:Splign:2.1.0"
     exon            1392..1562
                     /gene="MARS1"
                     /gene_synonym="CMT2U; ILFS2; ILLD; MARS; METRS; MRS;
                     MTRNS; SPG70; TTD9"
                     /inference="alignment:Splign:2.1.0"
     exon            1563..1658
                     /gene="MARS1"
                     /gene_synonym="CMT2U; ILFS2; ILLD; MARS; METRS; MRS;
                     MTRNS; SPG70; TTD9"
                     /inference="alignment:Splign:2.1.0"
     exon            1659..1776
                     /gene="MARS1"
                     /gene_synonym="CMT2U; ILFS2; ILLD; MARS; METRS; MRS;
                     MTRNS; SPG70; TTD9"
                     /inference="alignment:Splign:2.1.0"
     exon            1777..1990
                     /gene="MARS1"
                     /gene_synonym="CMT2U; ILFS2; ILLD; MARS; METRS; MRS;
                     MTRNS; SPG70; TTD9"
                     /inference="alignment:Splign:2.1.0"
     exon            1991..2122
                     /gene="MARS1"
                     /gene_synonym="CMT2U; ILFS2; ILLD; MARS; METRS; MRS;
                     MTRNS; SPG70; TTD9"
                     /inference="alignment:Splign:2.1.0"
     exon            2123..2227
                     /gene="MARS1"
                     /gene_synonym="CMT2U; ILFS2; ILLD; MARS; METRS; MRS;
                     MTRNS; SPG70; TTD9"
                     /inference="alignment:Splign:2.1.0"
     exon            2228..2414
                     /gene="MARS1"
                     /gene_synonym="CMT2U; ILFS2; ILLD; MARS; METRS; MRS;
                     MTRNS; SPG70; TTD9"
                     /inference="alignment:Splign:2.1.0"
     exon            2415..2486
                     /gene="MARS1"
                     /gene_synonym="CMT2U; ILFS2; ILLD; MARS; METRS; MRS;
                     MTRNS; SPG70; TTD9"
                     /inference="alignment:Splign:2.1.0"
     exon            2487..2579
                     /gene="MARS1"
                     /gene_synonym="CMT2U; ILFS2; ILLD; MARS; METRS; MRS;
                     MTRNS; SPG70; TTD9"
                     /inference="alignment:Splign:2.1.0"
     exon            2580..2797
                     /gene="MARS1"
                     /gene_synonym="CMT2U; ILFS2; ILLD; MARS; METRS; MRS;
                     MTRNS; SPG70; TTD9"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 atcagcgagg gattcacggc gaaatgagac tgttcgtgag tgatggcgtc ccgggttgct
       61 tgccggtgct ggccgccgcc gggagagccc ggggcagagc agaggtgctc atcagcactg
      121 taggcccgga agattgtgtg gtcccgttcc tgacccggcc taaggtccct gtcttgcagc
      181 tggatagcgg caactacctc ttctccacta gtgcaatctg ccgatatttt tttttgttat
      241 ctggctggga gcaagatgac ctcactaacc agtggctgga atgggaagcg acagagctgc
      301 agccagcttt gtctgctgcc ctgtactatt tagtggtcca aggcaagaag ggggaagatg
      361 ttcttggttc agtgcggaga gccctgactc acattgacca cagcttgagt cgtcagaact
      421 gtcctttcct ggctggggag acagaatctc tagccgacat tgttttgtgg ggagccctat
      481 acccattact gcaagatccc gcctacctcc ctgaggagct gagtgccctg cacagctggt
      541 tccagacact gagtacccag gaaccatgtc agcgagctgc agagactgta ctgaaacagc
      601 aaggtgtcct ggctctccgg ccttacctcc aaaagcagcc ccagcccagc cccgctgagg
      661 gaagggctgt caccaatgag cctgaggagg aggagctggc taccctatct gaggaggaga
      721 ttgctatggc tgttactgct tgggagaagg gcctagaaag tttgcccccg ctgcggcccc
      781 agcagaatcc agtgttgcct gtggctggag aaaggaatgt gctcatcacc agtgccctcc
      841 cttacgtcaa caatgtcccc caccttggga acatcattgg ttgtgtgctc agtgccgatg
      901 tctttgccag gtactctcgc ctccgccagt ggaacaccct ctatctgtgt gggacagatg
      961 agtatggtac agcaacagag accaaggctc tggaggaggg actaaccccc caggagatct
     1021 gcgacaagta ccacatcatc catgctgaca tctaccgctg gtttaacatt tcgtttgata
     1081 tttttggtcg caccaccact ccacagcaga ccaaaatcac ccaggacatt ttccagcagt
     1141 tgctgaaacg aggttttgtg ctgcaagata ctgtggagca actgcgatgt gagcactgtg
     1201 ctcgcttcct ggctgaccgc ttcgtggagg gcgtgtgtcc cttctgtggc tatgaggagg
     1261 ctcggggtga ccagtgtgac aagtgtggca agctcatcaa tgctgtcgag cttaagaagc
     1321 ctcagtgtaa agtctgccga tcatgccctg tggtgcagtc gagccagcac ctgtttctgg
     1381 acctgcctaa gctggagaag cgactggagg agtggttggg gaggacattg cctggcagtg
     1441 actggacacc caatgcccag tttatcaccc gttcttggct tcgggatggc ctcaagccac
     1501 gctgcataac ccgagacctc aaatggggaa cccctgtacc cttagaaggt tttgaagaca
     1561 aggtattcta tgtctggttt gatgccacta ttggctatct gtccatcaca gccaactaca
     1621 cagaccagtg ggagagatgg tggaagaacc cagagcaagt ggacctgtat cagttcatgg
     1681 ccaaagacaa tgttcctttc catagcttag tctttccttg ctcagcccta ggagctgagg
     1741 ataactatac cttggtcagc cacctcattg ctacagagta cctgaactat gaggatggga
     1801 aattctctaa gagccgcggt gtgggagtgt ttggggacat ggcccaggac acggggatcc
     1861 ctgctgacat ctggcgcttc tatctgctgt acattcggcc tgagggccag gacagtgctt
     1921 tctcctggac ggacctgctg ctgaagaata attctgagct gcttaacaac ctgggcaact
     1981 tcatcaacag agctgggatg tttgtgtcta agttctttgg gggctatgtg cctgagatgg
     2041 tgctcacccc tgatgatcag cgcctgctgg cccatgtcac cctggagctc cagcactatc
     2101 accagctact tgagaaggtt cggatccggg atgccttgcg cagtatcctc accatatctc
     2161 gacatggcaa ccaatatatt caggtgaatg agccctggaa gcggattaaa ggcagtgagg
     2221 ctgacaggca acgggcagga acagtgactg gcttggcagt gaatatagct gccttgctct
     2281 ctgtcatgct tcagccttac atgcccacgg ttagtgccac aatccaggcc cagctgcagc
     2341 tcccacctcc agcctgcagt atcctgctga caaacttcct gtgtacctta ccagcaggac
     2401 accagattgg cacagtcagt cccttgttcc aaaaattgga aaatgaccag attgaaagtt
     2461 taaggcagcg ctttggaggg ggccaggcaa aaacgtcccc gaagccagca gttgtagaga
     2521 ctgttacaac agccaagcca cagcagatac aagcgctgat ggatgaagtg acaaaacaag
     2581 gaaacattgt ccgagaactg aaagcacaaa aggcagacaa gaacgaggtt gctgcggagg
     2641 tggcgaaact cttggatcta aagaaacagt tggctgtagc tgaggggaaa ccccctgaag
     2701 cccctaaagg caagaagaaa aagtaaaaga ccttggctca tagaaagtca ctttaataga
     2761 tagggacagt aataaataaa tgtacaatct ctatata
//
