LOCUS       NM_005548               1991 bp    mRNA    linear   PRI 08-FEB-2025
DEFINITION  Homo sapiens lysyl-tRNA synthetase 1 (KARS1), transcript variant 2,
            mRNA.
ACCESSION   NM_005548
VERSION     NM_005548.3
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 1991)
  AUTHORS   Liu,Y., Luo,Z., Chen,X., Yang,X., Qi,Q., Alifu,M., Tao,C., Cui,W.,
            Liu,M. and Wang,W.
  TITLE     Determinants of the interaction between the 5'-leader of HIV-1
            genome and human lysyl-tRNA synthetase in reverse transcription
            primer release process
  JOURNAL   Biochem Biophys Res Commun 725, 150252 (2024)
   PUBMED   38878758
  REMARK    GeneRIF: Determinants of the interaction between the 5'-leader of
            HIV-1 genome and human lysyl-tRNA synthetase in reverse
            transcription primer release process.
REFERENCE   2  (bases 1 to 1991)
  AUTHORS   Tang,Y., Behrens,R.T., St Gelais,C., Wu,S., Vivekanandan,S.,
            Razin,E., Fang,P., Wu,L., Sherer,N. and Musier-Forsyth,K.
  TITLE     Human lysyl-tRNA synthetase phosphorylation promotes HIV-1 proviral
            DNA transcription
  JOURNAL   Nucleic Acids Res 51 (22), 12111-12123 (2023)
   PUBMED   37933844
  REMARK    GeneRIF: Human lysyl-tRNA synthetase phosphorylation promotes HIV-1
            proviral DNA transcription.
REFERENCE   3  (bases 1 to 1991)
  AUTHORS   Saettini,F., Guerra,F., Fazio,G., Bugarin,C., McMillan,H.J.,
            Ohtake,A., Ardissone,A., Itoh,M., Giglio,S., Cappuccio,G.,
            Giardino,G., Romano,R., Quadri,M., Gasperini,S., Moratto,D.,
            Chiarini,M., Akira,I., Fukuhara,Y., Hayakawa,I., Okazaki,Y.,
            Mauri,M., Piazza,R., Cazzaniga,G. and Biondi,A.
  TITLE     Antibody Deficiency in Patients with Biallelic KARS1 Mutations
  JOURNAL   J Clin Immunol 43 (8), 2115-2125 (2023)
   PUBMED   37770806
  REMARK    GeneRIF: Antibody Deficiency in Patients with Biallelic KARS1
            Mutations.
            Erratum:[J Clin Immunol. 2023 Nov;43(8):2126. doi:
            10.1007/s10875-023-01600-w.. PMID: 37921915]
REFERENCE   4  (bases 1 to 1991)
  AUTHORS   Lee,D.H., Paik,E.S., Cho,Y.J., Lee,Y.Y., Lee,B., Lee,E.J.,
            Choi,J.J., Choi,C.H., Lee,S., Choi,J.W. and Lee,J.W.
  TITLE     Changes in subcellular localization of Lysyl-tRNA synthetase and
            the 67-kDa laminin receptor in epithelial ovarian cancer metastases
  JOURNAL   Cancer Biomark 35 (1), 99-109 (2022)
   PUBMED   35912727
  REMARK    GeneRIF: Changes in subcellular localization of Lysyl-tRNA
            synthetase and the 67-kDa laminin receptor in epithelial ovarian
            cancer metastases.
REFERENCE   5  (bases 1 to 1991)
  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   6  (bases 1 to 1991)
  AUTHORS   Lamour,V., Quevillon,S., Diriong,S., N'Guyen,V.C., Lipinski,M. and
            Mirande,M.
  TITLE     Evolution of the Glx-tRNA synthetase family: the glutaminyl enzyme
            as a case of horizontal gene transfer
  JOURNAL   Proc Natl Acad Sci U S A 91 (18), 8670-8674 (1994)
   PUBMED   8078941
REFERENCE   7  (bases 1 to 1991)
  AUTHORS   Shiba,K., Suzuki,N., Shigesada,K., Namba,Y., Schimmel,P. and
            Noda,T.
  TITLE     Human cytoplasmic isoleucyl-tRNA synthetase: selective divergence
            of the anticodon-binding domain and acquisition of a new structural
            unit
  JOURNAL   Proc Natl Acad Sci U S A 91 (16), 7435-7439 (1994)
   PUBMED   8052601
REFERENCE   8  (bases 1 to 1991)
  AUTHORS   Kaiser,E., Hu,B., Becher,S., Eberhard,D., Schray,B., Baack,M.,
            Hameister,H. and Knippers,R.
  TITLE     The human EPRS locus (formerly the QARS locus): a gene encoding a
            class I and a class II aminoacyl-tRNA synthetase
  JOURNAL   Genomics 19 (2), 280-290 (1994)
   PUBMED   8188258
REFERENCE   9  (bases 1 to 1991)
  AUTHORS   Escalante,C. and Yang,D.C.
  TITLE     Expression of human aspartyl-tRNA synthetase in Escherichia coli.
            Functional analysis of the N-terminal putative amphiphilic helix
  JOURNAL   J Biol Chem 268 (8), 6014-6023 (1993)
   PUBMED   8449960
REFERENCE   10 (bases 1 to 1991)
  AUTHORS   Norcum,M.T.
  TITLE     Structural analysis of the high molecular mass aminoacyl-tRNA
            synthetase complex. Effects of neutral salts and detergents
  JOURNAL   J Biol Chem 266 (23), 15398-15405 (1991)
   PUBMED   1651330
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK315687.1, AF285758.1 and
            AA503390.1.
            
            On Jan 30, 2020 this sequence version replaced NM_005548.2.
            
            Summary: Aminoacyl-tRNA synthetases are a class of enzymes that
            charge tRNAs with their cognate amino acids. Lysyl-tRNA synthetase
            is a homodimer localized to the cytoplasm which belongs to the
            class II family of tRNA synthetases. It has been shown to be a
            target of autoantibodies in the human autoimmune diseases,
            polymyositis or dermatomyositis. Alternatively spliced transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Jul 2008].
            
            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 :: D32053.1, BC004132.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000302445.8/ ENSP00000303043.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-121               AK315687.1         24-144
            122-1809            AF285758.1         302-1989
            1810-1991           AA503390.1         5-186               c
FEATURES             Location/Qualifiers
     source          1..1991
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q23.1"
     gene            1..1991
                     /gene="KARS1"
                     /gene_synonym="CMTRIB; DEAPLE; DFNB89; KARS; KARS2; KRS;
                     LEPID"
                     /note="lysyl-tRNA synthetase 1"
                     /db_xref="GeneID:3735"
                     /db_xref="HGNC:HGNC:6215"
                     /db_xref="MIM:601421"
     exon            1..88
                     /gene="KARS1"
                     /gene_synonym="CMTRIB; DEAPLE; DFNB89; KARS; KARS2; KRS;
                     LEPID"
                     /inference="alignment:Splign:2.1.0"
     CDS             27..1820
                     /gene="KARS1"
                     /gene_synonym="CMTRIB; DEAPLE; DFNB89; KARS; KARS2; KRS;
                     LEPID"
                     /EC_number="6.1.1.6"
                     /note="isoform 2 is encoded by transcript variant 2;
                     lysine tRNA ligase; lysRS"
                     /codon_start=1
                     /product="lysine--tRNA ligase isoform 2"
                     /protein_id="NP_005539.1"
                     /db_xref="CCDS:CCDS10923.1"
                     /db_xref="GeneID:3735"
                     /db_xref="HGNC:HGNC:6215"
                     /db_xref="MIM:601421"
                     /translation="MAAVQAAEVKVDGSEPKLSKNELKRRLKAEKKVAEKEAKQKELS
                     EKQLSQATAAATNHTTDNGVGPEEESVDPNQYYKIRSQAIHQLKVNGEDPYPHKFHVD
                     ISLTDFIQKYSHLQPGDHLTDITLKVAGRIHAKRASGGKLIFYDLRGEGVKLQVMANS
                     RNYKSEEEFIHINNKLRRGDIIGVQGNPGKTKKGELSIIPYEITLLSPCLHMLPHLHF
                     GLKDKETRYRQRYLDLILNDFVRQKFIIRSKIITYIRSFLDELGFLEIETPMMNIIPG
                     GAVAKPFITYHNELDMNLYMRIAPELYHKMLVVGGIDRVYEIGRQFRNEGIDLTHNPE
                     FTTCEFYMAYADYHDLMEITEKMVSGMVKHITGSYKVTYHPDGPEGQAYDVDFTPPFR
                     RINMVEELEKALGMKLPETNLFETEETRKILDDICVAKAVECPPPRTTARLLDKLVGE
                     FLEVTCINPTFICDHPQIMSPLAKWHRSKEGLTERFELFVMKKEICNAYTELNDPMRQ
                     RQLFEEQAKAKAAGDDEAMFIDENFCTALEYGLPPTAGWGMGIDRVAMFLTDSNNIKE
                     VLLFPAMKPEDKKENVATTDTLESTTVGTSV"
     exon            89..248
                     /gene="KARS1"
                     /gene_synonym="CMTRIB; DEAPLE; DFNB89; KARS; KARS2; KRS;
                     LEPID"
                     /inference="alignment:Splign:2.1.0"
     exon            249..414
                     /gene="KARS1"
                     /gene_synonym="CMTRIB; DEAPLE; DFNB89; KARS; KARS2; KRS;
                     LEPID"
                     /inference="alignment:Splign:2.1.0"
     exon            415..508
                     /gene="KARS1"
                     /gene_synonym="CMTRIB; DEAPLE; DFNB89; KARS; KARS2; KRS;
                     LEPID"
                     /inference="alignment:Splign:2.1.0"
     exon            509..695
                     /gene="KARS1"
                     /gene_synonym="CMTRIB; DEAPLE; DFNB89; KARS; KARS2; KRS;
                     LEPID"
                     /inference="alignment:Splign:2.1.0"
     exon            696..821
                     /gene="KARS1"
                     /gene_synonym="CMTRIB; DEAPLE; DFNB89; KARS; KARS2; KRS;
                     LEPID"
                     /inference="alignment:Splign:2.1.0"
     exon            822..941
                     /gene="KARS1"
                     /gene_synonym="CMTRIB; DEAPLE; DFNB89; KARS; KARS2; KRS;
                     LEPID"
                     /inference="alignment:Splign:2.1.0"
     exon            942..1104
                     /gene="KARS1"
                     /gene_synonym="CMTRIB; DEAPLE; DFNB89; KARS; KARS2; KRS;
                     LEPID"
                     /inference="alignment:Splign:2.1.0"
     exon            1105..1278
                     /gene="KARS1"
                     /gene_synonym="CMTRIB; DEAPLE; DFNB89; KARS; KARS2; KRS;
                     LEPID"
                     /inference="alignment:Splign:2.1.0"
     exon            1279..1364
                     /gene="KARS1"
                     /gene_synonym="CMTRIB; DEAPLE; DFNB89; KARS; KARS2; KRS;
                     LEPID"
                     /inference="alignment:Splign:2.1.0"
     exon            1365..1450
                     /gene="KARS1"
                     /gene_synonym="CMTRIB; DEAPLE; DFNB89; KARS; KARS2; KRS;
                     LEPID"
                     /inference="alignment:Splign:2.1.0"
     exon            1451..1577
                     /gene="KARS1"
                     /gene_synonym="CMTRIB; DEAPLE; DFNB89; KARS; KARS2; KRS;
                     LEPID"
                     /inference="alignment:Splign:2.1.0"
     exon            1578..1721
                     /gene="KARS1"
                     /gene_synonym="CMTRIB; DEAPLE; DFNB89; KARS; KARS2; KRS;
                     LEPID"
                     /inference="alignment:Splign:2.1.0"
     exon            1722..1991
                     /gene="KARS1"
                     /gene_synonym="CMTRIB; DEAPLE; DFNB89; KARS; KARS2; KRS;
                     LEPID"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1957..1962
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KARS1"
                     /gene_synonym="CMTRIB; DEAPLE; DFNB89; KARS; KARS2; KRS;
                     LEPID"
                     /note="hexamer: ATTAAA"
     polyA_site      1991
                     /gene="KARS1"
                     /gene_synonym="CMTRIB; DEAPLE; DFNB89; KARS; KARS2; KRS;
                     LEPID"
                     /note="major polyA site"
ORIGIN      
        1 acttttgggt cgggccctcc gggaagatgg cggccgtgca ggcggccgag gtgaaagtgg
       61 atggcagcga gccgaaactg agcaagaatg agctgaagag acgcctgaaa gctgagaaga
      121 aagtagcaga gaaggaggcc aaacagaaag agctcagtga gaaacagcta agccaagcca
      181 ctgctgctgc caccaaccac accactgata atggtgtggg tcctgaggaa gagagcgtgg
      241 acccaaatca atactacaaa atccgcagtc aagcaattca tcagctgaag gtcaatgggg
      301 aagacccata cccacacaag ttccatgtag acatctcact cactgacttc atccaaaaat
      361 atagtcacct gcagcctggg gatcacctga ctgacatcac cttaaaggtg gcaggtagga
      421 tccatgccaa aagagcttct gggggaaagc tcatcttcta tgatcttcga ggagaggggg
      481 tgaagttgca agtcatggcc aattccagaa attataaatc agaagaagaa tttattcata
      541 ttaataacaa actgcgtcgg ggagacataa ttggagttca ggggaatcct ggtaaaacca
      601 agaagggtga gctgagcatc attccgtatg agatcacact gctgtctccc tgtttgcata
      661 tgttacctca tcttcacttt ggcctcaaag acaaggaaac aaggtatcgc cagagatact
      721 tggacttgat cctgaatgac tttgtgaggc agaaatttat catccgctct aagatcatca
      781 catatataag aagtttctta gatgagctgg gattcctaga gattgaaact cccatgatga
      841 acatcatccc agggggagcc gtggccaagc ctttcatcac ttatcacaac gagctggaca
      901 tgaacttata tatgagaatt gctccagaac tctatcataa gatgcttgtg gttggtggca
      961 tcgaccgggt ttatgaaatt ggacgccagt tccggaatga ggggattgat ttgacgcaca
     1021 atcctgagtt caccacctgt gagttctaca tggcctatgc agactatcac gatctcatgg
     1081 aaatcacgga gaagatggtt tcagggatgg tgaagcatat tacaggcagt tacaaggtca
     1141 cctaccaccc agatggccca gagggccaag cctacgatgt tgacttcacc ccacccttcc
     1201 ggcgaatcaa catggtagaa gagcttgaga aagccctggg gatgaagctg ccagaaacga
     1261 acctctttga aactgaagaa actcgcaaaa ttcttgatga tatctgtgtg gcaaaagctg
     1321 ttgaatgccc tccacctcgg accacagcca ggctccttga caagcttgtt ggggagttcc
     1381 tggaagtgac ttgcatcaat cctacattca tctgtgatca cccacagata atgagccctt
     1441 tggctaaatg gcaccgctct aaagagggtc tgactgagcg ctttgagctg tttgtcatga
     1501 agaaagagat atgcaatgcg tatactgagc tgaatgatcc catgcggcag cggcagcttt
     1561 ttgaagaaca ggccaaggcc aaggctgcag gtgatgatga ggccatgttc atagatgaaa
     1621 acttctgtac tgccctggaa tatgggctgc cccccacagc tggctggggc atgggcattg
     1681 atcgagtcgc catgtttctc acggactcca acaacatcaa ggaagtactt ctgtttcctg
     1741 ccatgaaacc cgaagacaag aaggagaatg tagcaaccac tgatacactg gaaagcacaa
     1801 cagttggcac ttctgtctag aaaataataa ttgcaagttg tataactcag gcgtctttgc
     1861 atttctgcga aagatcaagg tctgcaaggg aattcttgtg tgctgctttc catttgacac
     1921 cgcagttctg ttcagccatc agaagagaga caaggaatta aaaatttctt tttaatcctg
     1981 ttaccaaata a
//
