LOCUS       NM_001330669            2005 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens seryl-tRNA synthetase 1 (SARS1), transcript variant 3,
            mRNA.
ACCESSION   NM_001330669 XM_006710813
VERSION     NM_001330669.1
KEYWORDS    RefSeq.
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 2005)
  AUTHORS   Liu,Z., Wang,J., Shi,Y., Yee,B.A., Terrey,M., Zhang,Q., Lee,J.C.,
            Lin,K.I., Wang,A.H., Ackerman,S.L., Yeo,G.W., Cui,H. and Yang,X.L.
  TITLE     Seryl-tRNA synthetase promotes translational readthrough by mRNA
            binding and involvement of the selenocysteine incorporation
            machinery
  JOURNAL   Nucleic Acids Res 51 (19), 10768-10781 (2023)
   PUBMED   37739431
  REMARK    GeneRIF: Seryl-tRNA synthetase promotes translational readthrough
            by mRNA binding and involvement of the selenocysteine incorporation
            machinery.
REFERENCE   2  (bases 1 to 2005)
  AUTHORS   Verdura,E., Senger,B., Raspall-Chaure,M., Schluter,A., Launay,N.,
            Ruiz,M., Casasnovas,C., Rodriguez-Palmero,A., Macaya,A.,
            Becker,H.D. and Pujol,A.
  TITLE     Loss of seryl-tRNA synthetase (SARS1) causes complex spastic
            paraplegia and cellular senescence
  JOURNAL   J Med Genet 59 (12), 1227-1233 (2022)
   PUBMED   36041817
REFERENCE   3  (bases 1 to 2005)
  AUTHORS   Bogershausen,N., Krawczyk,H.E., Jamra,R.A., Lin,S.J., Yigit,G.,
            Huning,I., Polo,A.M., Vona,B., Huang,K., Schmidt,J., Altmuller,J.,
            Luppe,J., Platzer,K., Dorgeloh,B.B., Busche,A., Biskup,S.,
            Mendes,M.I., Smith,D.E.C., Salomons,G.S., Zibat,A., Bultmann,E.,
            Nurnberg,P., Spielmann,M., Lemke,J.R., Li,Y., Zenker,M.,
            Varshney,G.K., Hillen,H.S., Kratz,C.P. and Wollnik,B.
  TITLE     WARS1 and SARS1: Two tRNA synthetases implicated in autosomal
            recessive microcephaly
  JOURNAL   Hum Mutat 43 (10), 1454-1471 (2022)
   PUBMED   35790048
  REMARK    GeneRIF: WARS1 and SARS1: Two tRNA synthetases implicated in
            autosomal recessive microcephaly.
REFERENCE   4  (bases 1 to 2005)
  AUTHORS   Ravel,J.M., Dreumont,N., Mosca,P., Smith,D.E.C., Mendes,M.I.,
            Wiedemann,A., Coelho,D., Schmitt,E., Riviere,J.B., Tran
            Mau-Them,F., Thevenon,J., Kuentz,P., Polivka,M., Fuchs,S.A.,
            Kok,G., Thauvin-Robinet,C., Gueant,J.L., Salomons,G.S., Faivre,L.
            and Feillet,F.
  TITLE     A bi-allelic loss-of-function SARS1 variant in children with
            neurodevelopmental delay, deafness, cardiomyopathy, and
            decompensation during fever
  JOURNAL   Hum Mutat 42 (12), 1576-1583 (2021)
   PUBMED   34570399
REFERENCE   5  (bases 1 to 2005)
  AUTHORS   Zhao,J., Bai,H., Li,X., Yan,J., Zou,G., Wang,L., Li,X., Liu,Z.,
            Xiang,R., Yang,X.L. and Shi,Y.
  TITLE     Glucose-sensitive acetylation of Seryl tRNA synthetase regulates
            lipid synthesis in breast cancer
  JOURNAL   Signal Transduct Target Ther 6 (1), 303 (2021)
   PUBMED   34400610
  REMARK    GeneRIF: Glucose-sensitive acetylation of Seryl tRNA synthetase
            regulates lipid synthesis in breast cancer.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2005)
  AUTHORS   Shimada,N., Suzuki,T. and Watanabe,K.
  TITLE     Dual mode recognition of two isoacceptor tRNAs by mammalian
            mitochondrial seryl-tRNA synthetase
  JOURNAL   J Biol Chem 276 (50), 46770-46778 (2001)
   PUBMED   11577083
REFERENCE   7  (bases 1 to 2005)
  AUTHORS   Shah,Z.H., Toompuu,M., Hakkinen,T., Rovio,A.T., van Ravenswaay,C.,
            De Leenheer,E.M., Smith,R.J., Cremers,F.P., Cremers,C.W. and
            Jacobs,H.T.
  TITLE     Novel coding-region polymorphisms in mitochondrial seryl-tRNA
            synthetase (SARSM) and mitoribosomal protein S12 (RPMS12) genes in
            DFNA4 autosomal dominant deafness families
  JOURNAL   Hum Mutat 17 (5), 433-434 (2001)
   PUBMED   11317363
REFERENCE   8  (bases 1 to 2005)
  AUTHORS   Heckl,M., Busch,K. and Gross,H.J.
  TITLE     Minimal tRNA(Ser) and tRNA(Sec) substrates for human seryl-tRNA
            synthetase: contribution of tRNA domains to serylation and tertiary
            structure
  JOURNAL   FEBS Lett 427 (3), 315-319 (1998)
   PUBMED   9637248
REFERENCE   9  (bases 1 to 2005)
  AUTHORS   Vincent,C., Tarbouriech,N. and Hartlein,M.
  TITLE     Genomic organization, cDNA sequence, bacterial expression, and
            purification of human seryl-tRNA synthase
  JOURNAL   Eur J Biochem 250 (1), 77-84 (1997)
   PUBMED   9431993
REFERENCE   10 (bases 1 to 2005)
  AUTHORS   Hartlein,M. and Cusack,S.
  TITLE     Structure, function and evolution of seryl-tRNA synthetases:
            implications for the evolution of aminoacyl-tRNA synthetases and
            the genetic code
  JOURNAL   J Mol Evol 40 (5), 519-530 (1995)
   PUBMED   7540217
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL356389.20.
            
            On Sep 1, 2016 this sequence version replaced XM_006710813.2.
            
            Summary: This gene belongs to the class II amino-acyl tRNA family.
            The encoded enzyme catalyzes the transfer of L-serine to tRNA (Ser)
            and is related to bacterial and yeast counterparts. Multiple
            alternatively spliced transcript variants have been described but
            the biological validity of all variants is unknown. [provided by
            RefSeq, Jul 2010].
            
            Transcript Variant: This variant (3) encodes the longer isoform
            (b).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: SRR1660805.244787.1,
                                           SRR1803612.255120.1 [ECO:0000332]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-236               AL356389.20        62257-62492
            237-307             AL356389.20        72342-72412
            308-388             AL356389.20        76716-76796
            389-547             AL356389.20        77778-77936
            548-691             AL356389.20        79242-79385
            692-847             AL356389.20        79995-80150
            848-1069            AL356389.20        83574-83795
            1070-1199           AL356389.20        84341-84470
            1200-1357           AL356389.20        84755-84912
            1358-1423           AL356389.20        85169-85234
            1424-1553           AL356389.20        85608-85737
            1554-2005           AL356389.20        86095-86546
FEATURES             Location/Qualifiers
     source          1..2005
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.3"
     gene            1..2005
                     /gene="SARS1"
                     /gene_synonym="NEDMAS; SARS; SERRS; SERS"
                     /note="seryl-tRNA synthetase 1"
                     /db_xref="GeneID:6301"
                     /db_xref="HGNC:HGNC:10537"
                     /db_xref="MIM:607529"
     exon            1..236
                     /gene="SARS1"
                     /gene_synonym="NEDMAS; SARS; SERRS; SERS"
                     /inference="alignment:Splign:2.1.0"
     CDS             101..1711
                     /gene="SARS1"
                     /gene_synonym="NEDMAS; SARS; SERRS; SERS"
                     /EC_number="6.1.1.11"
                     /note="isoform b is encoded by transcript variant 3;
                     serine tRNA ligase 1, cytoplasmic; seryl-tRNA synthetase,
                     cytoplasmic; seryl-tRNA(Ser/Sec) synthetase; serine--tRNA
                     ligase, cytoplasmic"
                     /codon_start=1
                     /product="serine--tRNA ligase, cytoplasmic isoform b"
                     /protein_id="NP_001317598.1"
                     /db_xref="CCDS:CCDS81356.1"
                     /db_xref="GeneID:6301"
                     /db_xref="HGNC:HGNC:10537"
                     /db_xref="MIM:607529"
                     /translation="MVLDLDLFRVDKGGDPALIRETQEKRFKDPGLVDQLVKADSEWR
                     RCRFRADNLNKLKNLCSKTIGEKMKKKEPVGDDESVPENVLSFDDLTADALANLKVSQ
                     IKKVRLLIDEAILKCDAERIKLEAERFENLREIGNLLHPSVPISNDEDVDNKVERIWG
                     DCTVRKKYSHVDLVVMVDGFEGEKGAVVAGSRGYFLKGVLVFLEQALIQYALRTLGSR
                     GYIPIYTPFFMRKEVMQEVAQLSQFDEELYKVIGKGSEKSDDNSYDEKYLIATSEQPI
                     AALHRDEWLRPEDLPIKYAGLSTCFRQEVGSHGRDTRGIFRVHQFEKIEQFVYSSPHD
                     NKSWEMFEEMITTAEEFYQSLGIPYHIVNIVSGSLNHAASKKLDLEAWFPGSGAFREL
                     VSCSNCTDYQARRLRIRYGQTKKMMDKRKNNLHLSTQNKLEASLFSPKKVEFVHMLNA
                     TMCATTRTICAILENYQTEKGITVPEKLKEFMPPGLQELIPFVKPAPIEQEPSKKQKK
                     QHEGSKKKAAARDVTLENRLQNMEVTDA"
     exon            237..307
                     /gene="SARS1"
                     /gene_synonym="NEDMAS; SARS; SERRS; SERS"
                     /inference="alignment:Splign:2.1.0"
     exon            308..388
                     /gene="SARS1"
                     /gene_synonym="NEDMAS; SARS; SERRS; SERS"
                     /inference="alignment:Splign:2.1.0"
     exon            389..547
                     /gene="SARS1"
                     /gene_synonym="NEDMAS; SARS; SERRS; SERS"
                     /inference="alignment:Splign:2.1.0"
     exon            548..691
                     /gene="SARS1"
                     /gene_synonym="NEDMAS; SARS; SERRS; SERS"
                     /inference="alignment:Splign:2.1.0"
     exon            692..847
                     /gene="SARS1"
                     /gene_synonym="NEDMAS; SARS; SERRS; SERS"
                     /inference="alignment:Splign:2.1.0"
     exon            848..1069
                     /gene="SARS1"
                     /gene_synonym="NEDMAS; SARS; SERRS; SERS"
                     /inference="alignment:Splign:2.1.0"
     exon            1070..1199
                     /gene="SARS1"
                     /gene_synonym="NEDMAS; SARS; SERRS; SERS"
                     /inference="alignment:Splign:2.1.0"
     exon            1200..1357
                     /gene="SARS1"
                     /gene_synonym="NEDMAS; SARS; SERRS; SERS"
                     /inference="alignment:Splign:2.1.0"
     exon            1358..1423
                     /gene="SARS1"
                     /gene_synonym="NEDMAS; SARS; SERRS; SERS"
                     /inference="alignment:Splign:2.1.0"
     exon            1424..1553
                     /gene="SARS1"
                     /gene_synonym="NEDMAS; SARS; SERRS; SERS"
                     /inference="alignment:Splign:2.1.0"
     exon            1554..2005
                     /gene="SARS1"
                     /gene_synonym="NEDMAS; SARS; SERRS; SERS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1922..1927
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SARS1"
                     /gene_synonym="NEDMAS; SARS; SERRS; SERS"
                     /note="hexamer: AATAAA"
     polyA_site      1943
                     /gene="SARS1"
                     /gene_synonym="NEDMAS; SARS; SERRS; SERS"
                     /note="major polyA site"
     polyA_site      1981
                     /gene="SARS1"
                     /gene_synonym="NEDMAS; SARS; SERRS; SERS"
     polyA_site      2005
                     /gene="SARS1"
                     /gene_synonym="NEDMAS; SARS; SERRS; SERS"
ORIGIN      
        1 aggaagggcg ggtcagcgcg ccggcgcagt gcggcggtca caggctgagt gctgcggcgc
       61 gatccttgct tccctgagcg ttggcccggg aggaaagaag atggtgctgg atctggattt
      121 gtttcgggtg gataaaggag gggacccagc cctcatccga gagacgcagg agaagcgctt
      181 caaggacccg ggactagtgg accagctggt gaaggcagac agcgagtggc gacgatgtag
      241 atttcgggca gacaacttga acaagctgaa gaacctatgc agcaagacaa tcggagagaa
      301 aatgaagaaa aaagagccag tgggagatga tgagtctgtc ccagagaatg tgctgagttt
      361 cgatgacctt actgcagacg ctttagctaa cctgaaagtc tcacaaatca aaaaagtccg
      421 actcctcatt gatgaagcca tcctgaagtg tgacgcggag cggataaagt tggaagcaga
      481 gcggtttgag aacctccgag agattgggaa ccttctgcac ccttctgtac ccatcagtaa
      541 cgatgaggat gtggacaaca aagtagagag gatttggggt gattgtacag tcaggaagaa
      601 gtactctcat gtggacctgg tggtgatggt agatggcttt gaaggcgaaa agggggccgt
      661 ggtggctggg agtcgagggt acttcttgaa gggggtcctg gtgttcctgg aacaggctct
      721 catccagtat gcccttcgca ccttgggaag tcggggctac attcccattt ataccccctt
      781 tttcatgagg aaggaggtca tgcaggaggt ggcacagctc agccagtttg atgaagaact
      841 ttataaggtg attggcaaag gcagtgaaaa gtctgatgac aactcctatg atgagaagta
      901 cctgattgcc acctcagagc agcccattgc tgccctgcac cgggatgagt ggctccggcc
      961 ggaggacctg cccatcaagt atgctggcct gtctacctgc ttccgtcagg aggtgggctc
     1021 ccatggccgt gacacccgtg gcatcttccg agtccatcag tttgagaaga ttgaacagtt
     1081 tgtgtactca tcaccccatg acaacaagtc atgggagatg tttgaagaga tgattaccac
     1141 cgcagaggag ttctaccagt ccctggggat tccttaccac attgtgaata ttgtctcagg
     1201 ttctttgaat catgctgcca gtaagaagct tgacctggag gcctggtttc cgggctcagg
     1261 agccttccgt gagttggtct cctgttctaa ttgcacggat taccaggctc gccggcttcg
     1321 aatccgatat gggcaaacca agaagatgat ggacaagaga aagaataatc tccatttatc
     1381 tacacagaac aagttggagg cttccctctt ctcacccaag aaggtggagt ttgtccatat
     1441 gctcaatgct accatgtgcg ccactacccg taccatctgc gccatcctgg agaactacca
     1501 gacagagaag ggcatcactg tgcctgagaa attgaaggag ttcatgccgc caggactgca
     1561 agaactgatc ccctttgtga agcctgcgcc cattgagcag gagccatcaa agaagcagaa
     1621 gaagcaacat gagggcagca aaaagaaagc agcagcaaga gacgtcaccc tagaaaacag
     1681 gctgcagaac atggaggtca ccgatgcttg aacattcctg cctccctatt tgccaggctt
     1741 tcatttctgt ctgctgagat ctcagagcct gcccaacagc agggaagcca agcacccatt
     1801 catccccctg cccccatctg actgcgtagc tgagagggga acagtgccat gtaccacaca
     1861 gatgttcctg tctcctcgca tgggcatagg gacccatcat tgatgactga tgaaaccatg
     1921 taataaagca tctctgggga gggcttagga ctcttcctca gtcttcttcc ccgggcttga
     1981 accccgcctc tgaggttctc cctga
//
