LOCUS       NM_180678               2390 bp    mRNA    linear   ROD 13-AUG-2024
DEFINITION  Mus musculus glycyl-tRNA synthetase 1 (Gars1), mRNA.
ACCESSION   NM_180678
VERSION     NM_180678.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 2390)
  AUTHORS   Tadenev,A.L.D., Hatton,C.L. and Burgess,R.W.
  TITLE     Lack of effect from genetic deletion of Hdac6 in a humanized mouse
            model of CMT2D
  JOURNAL   J Peripher Nerv Syst 29 (2), 213-220 (2024)
   PUBMED   38551018
REFERENCE   2  (bases 1 to 2390)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   3  (bases 1 to 2390)
  AUTHORS   Cui,Q., Bi,H., Lv,Z., Wu,Q., Hua,J., Gu,B., Huo,C., Tang,M.,
            Chen,Y., Chen,C., Chen,S., Zhang,X., Wu,Z., Lao,Z., Sheng,N.,
            Shen,C., Zhang,Y., Wu,Z.Y., Jin,Z., Yang,P., Liu,H., Li,J. and
            Bai,G.
  TITLE     Diverse CMT2 neuropathies are linked to aberrant G3BP interactions
            in stress granules
  JOURNAL   Cell 186 (4), 803-820 (2023)
   PUBMED   36738734
REFERENCE   4  (bases 1 to 2390)
  AUTHORS   Jennings,M.J., Kagiava,A., Vendredy,L., Spaulding,E.L., Stavrou,M.,
            Hathazi,D., Gruneboom,A., De Winter,V., Gess,B., Schara,U.,
            Pogoryelova,O., Lochmuller,H., Borchers,C.H., Roos,A.,
            Burgess,R.W., Timmerman,V., Kleopa,K.A. and Horvath,R.
  TITLE     NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in
            patients and mice
  JOURNAL   Brain 145 (11), 3999-4015 (2022)
   PUBMED   35148379
REFERENCE   5  (bases 1 to 2390)
  AUTHORS   Spaulding,E.L., Hines,T.J., Bais,P., Tadenev,A.L.D., Schneider,R.,
            Jewett,D., Pattavina,B., Pratt,S.L., Morelli,K.H., Stum,M.G.,
            Hill,D.P., Gobet,C., Pipis,M., Reilly,M.M., Jennings,M.J.,
            Horvath,R., Bai,Y., Shy,M.E., Alvarez-Castelao,B., Schuman,E.M.,
            Bogdanik,L.P., Storkebaum,E. and Burgess,R.W.
  TITLE     The integrated stress response contributes to tRNA
            synthetase-associated peripheral neuropathy
  JOURNAL   Science 373 (6559), 1156-1161 (2021)
   PUBMED   34516839
REFERENCE   6  (bases 1 to 2390)
  AUTHORS   Xie,W., Nangle,L.A., Zhang,W., Schimmel,P. and Yang,X.L.
  TITLE     Long-range structural effects of a Charcot-Marie-Tooth
            disease-causing mutation in human glycyl-tRNA synthetase
  JOURNAL   Proc Natl Acad Sci U S A 104 (24), 9976-9981 (2007)
   PUBMED   17545306
REFERENCE   7  (bases 1 to 2390)
  AUTHORS   Seburn,K.L., Nangle,L.A., Cox,G.A., Schimmel,P. and Burgess,R.W.
  TITLE     An active dominant mutation of glycyl-tRNA synthetase causes
            neuropathy in a Charcot-Marie-Tooth 2D mouse model
  JOURNAL   Neuron 51 (6), 715-726 (2006)
   PUBMED   16982418
  REMARK    GeneRIF: Results indicate that Charcot-Marie-Tooth peripheral
            neuropathies, type 2D (CMT2D) phenotype is caused by novel
            pathogenic roles for the mutant GARS that specifically affect
            peripheral neurons.
REFERENCE   8  (bases 1 to 2390)
  AUTHORS   Li,X.Y., Cui,X.S. and Kim,N.H.
  TITLE     Transcription profile during maternal to zygotic transition in the
            mouse embryo
  JOURNAL   Reprod Fertil Dev 18 (6), 635-645 (2006)
   PUBMED   16930510
REFERENCE   9  (bases 1 to 2390)
  AUTHORS   Stryke,D., Kawamoto,M., Huang,C.C., Johns,S.J., King,L.A.,
            Harper,C.A., Meng,E.C., Lee,R.E., Yee,A., L'Italien,L.,
            Chuang,P.T., Young,S.G., Skarnes,W.C., Babbitt,P.C. and Ferrin,T.E.
  TITLE     BayGenomics: a resource of insertional mutations in mouse embryonic
            stem cells
  JOURNAL   Nucleic Acids Res 31 (1), 278-281 (2003)
   PUBMED   12520002
REFERENCE   10 (bases 1 to 2390)
  AUTHORS   Lang,I.M., Chuang,T.L., Barbas,C.F. 3rd and Schleef,R.R.
  TITLE     Purification of storage granule protein-23. A novel protein
            identified by phage display technology and interaction with type I
            plasminogen activator inhibitor
  JOURNAL   J Biol Chem 271 (47), 30126-30135 (1996)
   PUBMED   8939962
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BY309346.1, AK012758.2 and AV236862.1.
            
            On Apr 21, 2006 this sequence version replaced NM_180678.2.
            
            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 :: BC021747.1, AK146238.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-6                 BY309346.1         1-6
            7-2276              AK012758.2         2-2271
            2277-2390           AV236862.1         124-237
FEATURES             Location/Qualifiers
     source          1..2390
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="6"
                     /map="6 27.29 cM"
     gene            1..2390
                     /gene="Gars1"
                     /gene_synonym="Gars; Gena201; GENA202; Nmf249; Sgrp23"
                     /note="glycyl-tRNA synthetase 1"
                     /db_xref="GeneID:353172"
                     /db_xref="MGI:MGI:2449057"
     exon            1..233
                     /gene="Gars1"
                     /gene_synonym="Gars; Gena201; GENA202; Nmf249; Sgrp23"
                     /inference="alignment:Splign:2.1.0"
     CDS             42..2231
                     /gene="Gars1"
                     /gene_synonym="Gars; Gena201; GENA202; Nmf249; Sgrp23"
                     /EC_number="6.1.1.14"
                     /note="storage granule protein 23; glyRS; AP-4-A
                     synthetase; diadenosine tetraphosphate synthetase; ap4A
                     synthetase"
                     /codon_start=1
                     /product="glycine--tRNA ligase"
                     /protein_id="NP_851009.2"
                     /db_xref="CCDS:CCDS39492.1"
                     /db_xref="GeneID:353172"
                     /db_xref="MGI:MGI:2449057"
                     /translation="MPCLLPSLLRATRAALPLLSPPRVVAASASQRLLSAPAQPAASR
                     SSMDSAEELLAPLRLAVRQQGDFVRKLKEDKAPQVDVDRAVAELKARKRVLEAKELAL
                     QPKDDIVDRAKMEDTLKRRFFYDQAFAIYGGVSGLYDFGPVGCALKNNIIQAWRQHFI
                     QEEQILEIDCTMLTPEPVLKTSGHVDKFADFMVKDVKNGECFRADHLLKAHLQKLMSD
                     KKCSAEKKSEMESVLAQLDNYGQQELADLFVNYNVKSPTTGNDLSPPVPFNLMFQTFI
                     GPGGNMPGYLRPETAQGIFLNFKRLLEFNQGKLPFAAAQIGNSFRNEISPRSGLIRVR
                     EFTMAEIEHFVDPTEKDHPKFQSVADLCLYLYSAKAQVTGQSARKMRLGDAVEQGVIN
                     NSVLGYFIGRIYLYLTKVGISPDKLRFRQHMENEMAHYACDCWDAESKTSYGWIEIVG
                     CADRSCYDLSCHARATKVPLVAEKPLKEPKTVNVVQFEPNKGAVGKAYKKDAKLVLEY
                     LSACDECYISEMELLLSEKGEFTIETEGKTFQLTKDMVSVKRFQKTLHVEEVVPSVIE
                     PSFGLGRIMYTILEHTFHVREGDEQRTFFSFPAVVAPFKCSVLPLSQNQEFMPFVKEL
                     SEALTRNGVSHKVDDSSGSIGRRYARTDEIGVAFGITIDFDTVNKTPHTATLRDRDSM
                     RQIRAEVSELPNVVRDLANGNITWADVEARYPLFEGQETGKKETVEE"
     exon            234..335
                     /gene="Gars1"
                     /gene_synonym="Gars; Gena201; GENA202; Nmf249; Sgrp23"
                     /inference="alignment:Splign:2.1.0"
     exon            336..438
                     /gene="Gars1"
                     /gene_synonym="Gars; Gena201; GENA202; Nmf249; Sgrp23"
                     /inference="alignment:Splign:2.1.0"
     exon            439..580
                     /gene="Gars1"
                     /gene_synonym="Gars; Gena201; GENA202; Nmf249; Sgrp23"
                     /inference="alignment:Splign:2.1.0"
     exon            581..669
                     /gene="Gars1"
                     /gene_synonym="Gars; Gena201; GENA202; Nmf249; Sgrp23"
                     /inference="alignment:Splign:2.1.0"
     exon            670..746
                     /gene="Gars1"
                     /gene_synonym="Gars; Gena201; GENA202; Nmf249; Sgrp23"
                     /inference="alignment:Splign:2.1.0"
     exon            747..892
                     /gene="Gars1"
                     /gene_synonym="Gars; Gena201; GENA202; Nmf249; Sgrp23"
                     /inference="alignment:Splign:2.1.0"
     exon            893..1042
                     /gene="Gars1"
                     /gene_synonym="Gars; Gena201; GENA202; Nmf249; Sgrp23"
                     /inference="alignment:Splign:2.1.0"
     exon            1043..1205
                     /gene="Gars1"
                     /gene_synonym="Gars; Gena201; GENA202; Nmf249; Sgrp23"
                     /inference="alignment:Splign:2.1.0"
     exon            1206..1370
                     /gene="Gars1"
                     /gene_synonym="Gars; Gena201; GENA202; Nmf249; Sgrp23"
                     /inference="alignment:Splign:2.1.0"
     exon            1371..1478
                     /gene="Gars1"
                     /gene_synonym="Gars; Gena201; GENA202; Nmf249; Sgrp23"
                     /inference="alignment:Splign:2.1.0"
     exon            1479..1624
                     /gene="Gars1"
                     /gene_synonym="Gars; Gena201; GENA202; Nmf249; Sgrp23"
                     /inference="alignment:Splign:2.1.0"
     exon            1625..1710
                     /gene="Gars1"
                     /gene_synonym="Gars; Gena201; GENA202; Nmf249; Sgrp23"
                     /inference="alignment:Splign:2.1.0"
     exon            1711..1820
                     /gene="Gars1"
                     /gene_synonym="Gars; Gena201; GENA202; Nmf249; Sgrp23"
                     /inference="alignment:Splign:2.1.0"
     exon            1821..1914
                     /gene="Gars1"
                     /gene_synonym="Gars; Gena201; GENA202; Nmf249; Sgrp23"
                     /inference="alignment:Splign:2.1.0"
     exon            1915..2105
                     /gene="Gars1"
                     /gene_synonym="Gars; Gena201; GENA202; Nmf249; Sgrp23"
                     /inference="alignment:Splign:2.1.0"
     exon            2106..2390
                     /gene="Gars1"
                     /gene_synonym="Gars; Gena201; GENA202; Nmf249; Sgrp23"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2353..2358
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Gars1"
                     /gene_synonym="Gars; Gena201; GENA202; Nmf249; Sgrp23"
                     /note="hexamer: ATTAAA"
     polyA_site      2379
                     /gene="Gars1"
                     /gene_synonym="Gars; Gena201; GENA202; Nmf249; Sgrp23"
                     /note="major polyA site"
ORIGIN      
        1 gcttccgtag ccgccctgcg caccgcctag gcggcgtgct catgccctgt ctgctcccct
       61 cgctgctcag agccacccgc gccgcgctgc cgctcctgtc gccgccccga gtggtcgcag
      121 cgtccgcgtc tcagcggctc ctcagcgctc ccgcgcagcc cgccgcctcc cggagcagca
      181 tggacagcgc ggaggagctg ctggccccac tgcggctagc cgtgcgccag cagggagact
      241 ttgtacggaa gttaaaagaa gataaagccc cacaagtgga tgtggacaga gcagtagctg
      301 agctcaaggc ccggaagagg gttctggaag caaaggagct ggcattgcag cccaaagatg
      361 acatcgtaga tagagcaaaa atggaagata cgttgaagag gaggtttttc tacgatcagg
      421 cttttgctat ttatggaggt gtcagtggat tgtatgactt cgggccggta ggatgtgctt
      481 tgaagaacaa tatcatccag gcctggaggc agcactttat ccaagaggag cagatcctgg
      541 agattgactg caccatgctc acccctgagc cagttttaaa gacctctggc cacgtagaca
      601 aatttgctga cttcatggtg aaggacgtga agaacggaga gtgcttccga gcagaccacc
      661 tgttgaaagc tcatttacag aaactgatgt cagataagaa gtgctctgct gagaagaagt
      721 cagagatgga aagtgtcttg gcccagcttg ataactatgg acaacaagaa cttgcggatc
      781 tttttgtgaa ctataatgta aaatctccca ccactggcaa tgacctgtcc cctccggtac
      841 cttttaactt aatgttccag accttcattg ggcctggagg aaatatgcct ggatatctga
      901 gaccagaaac tgcacaggga attttcctga atttcaaacg acttttggaa ttcaaccaag
      961 ggaaattgcc ttttgctgct gcccagattg gaaactcctt cagaaatgag atctcacctc
     1021 ggtctggact gatccgagtc agggagttta caatggcaga gattgagcac tttgtagatc
     1081 ccactgagaa agaccatccc aagttccaaa gtgtggccga cctctgcctt tatttgtact
     1141 cagcaaaagc ccaggtcact ggacagtctg ctcggaagat gcgtctggga gatgctgttg
     1201 aacagggtgt gattaacaac tcagtattag gctattttat tggccgcatc tacctctacc
     1261 tcacgaaggt tggaatatct cctgataaac tccgcttccg gcagcatatg gagaatgaga
     1321 tggcccatta tgcctgcgac tgctgggatg ccgagtccaa aacgtcctat ggctggattg
     1381 agattgttgg atgtgctgac cgttcctgct acgacctctc ctgtcatgct cgagccacca
     1441 aagttccact agtagctgag aaacctctga aagaacccaa aacagttaac gttgtacagt
     1501 ttgagcccaa caagggcgcc gtgggcaagg cgtacaagaa ggatgcaaag ctagtgctgg
     1561 agtatctcag cgcctgtgat gagtgctaca tttcagagat ggagctgctg ctgagtgaga
     1621 aaggggaatt cactattgaa actgaaggaa aaacatttca gttaacgaaa gacatggtca
     1681 gtgtgaagag attccagaaa acactgcatg tggaagaagt tgttccgagt gtaattgagc
     1741 cctcctttgg cttgggcagg atcatgtata ccatattgga acatacattc catgtccgag
     1801 agggagatga acagagaacg ttcttcagtt tccctgctgt ggttgctcca ttcaaatgtt
     1861 ctgtccttcc actgagccag aaccaagagt ttatgccatt tgtcaaggaa ttatccgaag
     1921 ctctgaccag gaacggcgtg tctcataaag tcgatgactc ctctgggtct attggaaggc
     1981 gctatgcaag aactgatgag attggcgtgg ctttcggcat cactattgac tttgatacag
     2041 tgaacaagac gccccacact gcaactctga gggaccgaga ctccatgaga cagataaggg
     2101 cagaggtctc tgagctgccc aatgtggtcc gcgatctggc caacggcaac attacctggg
     2161 ctgatgtgga ggccaggtac ccactctttg aagggcaaga gactggcaag aaggagacag
     2221 tagaggaatg agaacagctg gcagcttatg accatcgtgc taataaataa ctcatcatgt
     2281 ccactacaca gagcattgtg actgcatcca gggacggttt ttcctcagtg gctgcttggt
     2341 tttactccca caattaaagt tgaaggaatt ctgaacacat ttataatcca
//
