LOCUS       NM_006513               1914 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens seryl-tRNA synthetase 1 (SARS1), transcript variant 1,
            mRNA.
ACCESSION   NM_006513
VERSION     NM_006513.4
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 1914)
  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 1914)
  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 1914)
  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 1914)
  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 1914)
  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 1914)
  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 1914)
  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 1914)
  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 1914)
  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 1914)
  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 BC111398.1, BC009390.2 and
            BM666450.1.
            
            On Nov 23, 2018 this sequence version replaced NM_006513.3.
            
            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 (1) lacks an alternate in-frame
            exon compared to variant 3. The resulting isoform (a) has the same
            N- and C-termini but is shorter compared to isoform b.
            
            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 :: SRR1803611.274910.1,
                                           SRR5189658.83431.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000234677.7/ ENSP00000234677.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1442              BC111398.1         5-1446
            1443-1895           BC009390.2         1415-1867
            1896-1914           BM666450.1         18-36               c
FEATURES             Location/Qualifiers
     source          1..1914
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.3"
     gene            1..1914
                     /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..211
                     /gene="SARS1"
                     /gene_synonym="NEDMAS; SARS; SERRS; SERS"
                     /inference="alignment:Splign:2.1.0"
     CDS             76..1620
                     /gene="SARS1"
                     /gene_synonym="NEDMAS; SARS; SERRS; SERS"
                     /EC_number="6.1.1.11"
                     /note="isoform a is encoded by transcript variant 1;
                     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 a"
                     /protein_id="NP_006504.2"
                     /db_xref="CCDS:CCDS795.1"
                     /db_xref="GeneID:6301"
                     /db_xref="HGNC:HGNC:10537"
                     /db_xref="MIM:607529"
                     /translation="MVLDLDLFRVDKGGDPALIRETQEKRFKDPGLVDQLVKADSEWR
                     RCRFRADNLNKLKNLCSKTIGEKMKKKEPVGDDESVPENVLSFDDLTADALANLKVSQ
                     IKKVRLLIDEAILKCDAERIKLEAERFENLREIGNLLHPSVPISNDEDVDNKVERIWG
                     DCTVRKKYSHVDLVVMVDGFEGEKGAVVAGSRGYFLKGVLVFLEQALIQYALRTLGSR
                     GYIPIYTPFFMRKEVMQEVAQLSQFDEELYKVIGKGSEKSDDNSYDEKYLIATSEQPI
                     AALHRDEWLRPEDLPIKYAGLSTCFRQEVGSHGRDTRGIFRVHQFEKIEQFVYSSPHD
                     NKSWEMFEEMITTAEEFYQSLGIPYHIVNIVSGSLNHAASKKLDLEAWFPGSGAFREL
                     VSCSNCTDYQARRLRIRYGQTKKMMDKVEFVHMLNATMCATTRTICAILENYQTEKGI
                     TVPEKLKEFMPPGLQELIPFVKPAPIEQEPSKKQKKQHEGSKKKAAARDVTLENRLQN
                     MEVTDA"
     exon            212..282
                     /gene="SARS1"
                     /gene_synonym="NEDMAS; SARS; SERRS; SERS"
                     /inference="alignment:Splign:2.1.0"
     exon            283..363
                     /gene="SARS1"
                     /gene_synonym="NEDMAS; SARS; SERRS; SERS"
                     /inference="alignment:Splign:2.1.0"
     exon            364..522
                     /gene="SARS1"
                     /gene_synonym="NEDMAS; SARS; SERRS; SERS"
                     /inference="alignment:Splign:2.1.0"
     exon            523..666
                     /gene="SARS1"
                     /gene_synonym="NEDMAS; SARS; SERRS; SERS"
                     /inference="alignment:Splign:2.1.0"
     exon            667..822
                     /gene="SARS1"
                     /gene_synonym="NEDMAS; SARS; SERRS; SERS"
                     /inference="alignment:Splign:2.1.0"
     exon            823..1044
                     /gene="SARS1"
                     /gene_synonym="NEDMAS; SARS; SERRS; SERS"
                     /inference="alignment:Splign:2.1.0"
     exon            1045..1174
                     /gene="SARS1"
                     /gene_synonym="NEDMAS; SARS; SERRS; SERS"
                     /inference="alignment:Splign:2.1.0"
     exon            1175..1332
                     /gene="SARS1"
                     /gene_synonym="NEDMAS; SARS; SERRS; SERS"
                     /inference="alignment:Splign:2.1.0"
     exon            1333..1462
                     /gene="SARS1"
                     /gene_synonym="NEDMAS; SARS; SERRS; SERS"
                     /inference="alignment:Splign:2.1.0"
     exon            1463..1914
                     /gene="SARS1"
                     /gene_synonym="NEDMAS; SARS; SERRS; SERS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1831..1836
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SARS1"
                     /gene_synonym="NEDMAS; SARS; SERRS; SERS"
                     /note="hexamer: AATAAA"
     polyA_site      1852
                     /gene="SARS1"
                     /gene_synonym="NEDMAS; SARS; SERRS; SERS"
                     /note="major polyA site"
     polyA_site      1890
                     /gene="SARS1"
                     /gene_synonym="NEDMAS; SARS; SERRS; SERS"
     polyA_site      1914
                     /gene="SARS1"
                     /gene_synonym="NEDMAS; SARS; SERRS; SERS"
ORIGIN      
        1 gcagtgcggc ggtcacaggc tgagtgctgc ggcgcgatcc ttgcttccct gagcgttggc
       61 ccgggaggaa agaagatggt gctggatctg gatttgtttc gggtggataa aggaggggac
      121 ccagccctca tccgagagac gcaggagaag cgcttcaagg acccgggact agtggaccag
      181 ctggtgaagg cagacagcga gtggcgacga tgtagatttc gggcagacaa cttgaacaag
      241 ctgaagaacc tatgcagcaa gacaatcgga gagaaaatga agaaaaaaga gccagtggga
      301 gatgatgagt ctgtcccaga gaatgtgctg agtttcgatg accttactgc agacgcttta
      361 gctaacctga aagtctcaca aatcaaaaaa gtccgactcc tcattgatga agccatcctg
      421 aagtgtgacg cggagcggat aaagttggaa gcagagcggt ttgagaacct ccgagagatt
      481 gggaaccttc tgcacccttc tgtacccatc agtaacgatg aggatgtgga caacaaagta
      541 gagaggattt ggggtgattg tacagtcagg aagaagtact ctcatgtgga cctggtggtg
      601 atggtagatg gctttgaagg cgaaaagggg gccgtggtgg ctgggagtcg agggtacttc
      661 ttgaaggggg tcctggtgtt cctggaacag gctctcatcc agtatgccct tcgcaccttg
      721 ggaagtcggg gctacattcc catttatacc ccctttttca tgaggaagga ggtcatgcag
      781 gaggtggcac agctcagcca gtttgatgaa gaactttata aggtgattgg caaaggcagt
      841 gaaaagtctg atgacaactc ctatgatgag aagtacctga ttgccacctc agagcagccc
      901 attgctgccc tgcaccggga tgagtggctc cggccggagg acctgcccat caagtatgct
      961 ggcctgtcta cctgcttccg tcaggaggtg ggctcccatg gccgtgacac ccgtggcatc
     1021 ttccgagtcc atcagtttga gaagattgaa cagtttgtgt actcatcacc ccatgacaac
     1081 aagtcatggg agatgtttga agagatgatt accaccgcag aggagttcta ccagtccctg
     1141 gggattcctt accacattgt gaatattgtc tcaggttctt tgaatcatgc tgccagtaag
     1201 aagcttgacc tggaggcctg gtttccgggc tcaggagcct tccgtgagtt ggtctcctgt
     1261 tctaattgca cggattacca ggctcgccgg cttcgaatcc gatatgggca aaccaagaag
     1321 atgatggaca aggtggagtt tgtccatatg ctcaatgcta ccatgtgcgc cactacccgt
     1381 accatctgcg ccatcctgga gaactaccag acagagaagg gcatcactgt gcctgagaaa
     1441 ttgaaggagt tcatgccgcc aggactgcaa gaactgatcc cctttgtgaa gcctgcgccc
     1501 attgagcagg agccatcaaa gaagcagaag aagcaacatg agggcagcaa aaagaaagca
     1561 gcagcaagag acgtcaccct agaaaacagg ctgcagaaca tggaggtcac cgatgcttga
     1621 acattcctgc ctccctattt gccaggcttt catttctgtc tgctgagatc tcagagcctg
     1681 cccaacagca gggaagccaa gcacccattc atccccctgc ccccatctga ctgcgtagct
     1741 gagaggggaa cagtgccatg taccacacag atgttcctgt ctcctcgcat gggcataggg
     1801 acccatcatt gatgactgat gaaaccatgt aataaagcat ctctggggag ggcttaggac
     1861 tcttcctcag tcttcttccc cgggcttgaa ccccgcctct gaggttctcc ctga
//
