LOCUS       NM_002047               2437 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens glycyl-tRNA synthetase 1 (GARS1), transcript variant
            1, mRNA.
ACCESSION   NM_002047
VERSION     NM_002047.4
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 2437)
  AUTHORS   Liu,W., Wei,C., He,Q., Chen,Z., Zhuang,W., Guo,Y. and Xue,X.
  TITLE     Multiple omics integrative analysis identifies GARS1 as a novel
            prognostic and immunological biomarker: from pan-cancer to bladder
            cancer
  JOURNAL   Sci Rep 14 (1), 19025 (2024)
   PUBMED   39152248
  REMARK    GeneRIF: Multiple omics integrative analysis identifies GARS1 as a
            novel prognostic and immunological biomarker: from pan-cancer to
            bladder cancer.
            Erratum:[Sci Rep. 2024 Oct 24;14(1):25244. doi:
            10.1038/s41598-024-76904-x.. PMID: 39448730]
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2437)
  AUTHORS   Zheng,Y.X., Chen,X.B., Xu,F., Cui,Y.Z., Wang,Z.Y., Zhou,Y.,
            Fu,N.C., Yang,X.Y., Chen,X.Y., Zheng,M. and Man,X.Y.
  TITLE     Glycyl-tRNA Synthetase Induces Psoriasis-Like Skin by Facilitating
            Skin Inflammation and Vascular Endothelial Cell Angiogenesis
  JOURNAL   J Invest Dermatol 144 (4), 774-785 (2024)
   PUBMED   37827278
  REMARK    GeneRIF: Glycyl-tRNA Synthetase Induces Psoriasis-Like Skin by
            Facilitating Skin Inflammation and Vascular Endothelial Cell
            Angiogenesis.
REFERENCE   3  (bases 1 to 2437)
  AUTHORS   Khosh Kish,E., Gamallat,Y., Choudhry,M., Ghosh,S., Seyedi,S. and
            Bismar,T.A.
  TITLE     Glycyl-tRNA Synthetase (GARS) Expression Is Associated with
            Prostate Cancer Progression and Its Inhibition Decreases Migration,
            and Invasion In Vitro
  JOURNAL   Int J Mol Sci 24 (5), 4260 (2023)
   PUBMED   36901698
  REMARK    GeneRIF: Glycyl-tRNA Synthetase (GARS) Expression Is Associated
            with Prostate Cancer Progression and Its Inhibition Decreases
            Migration, and Invasion In Vitro.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2437)
  AUTHORS   Alexandrova,J., Paulus,C., Rudinger-Thirion,J., Jossinet,F. and
            Frugier,M.
  TITLE     Elaborate uORF/IRES features control expression and localization of
            human glycyl-tRNA synthetase
  JOURNAL   RNA Biol 12 (12), 1301-1313 (2015)
   PUBMED   26327585
  REMARK    GeneRIF: one of the mRNAs isoforms tightly controls expression and
            localization of human GARS.
REFERENCE   5  (bases 1 to 2437)
  AUTHORS   Hipps,D., Shiba,K., Henderson,B. and Schimmel,P.
  TITLE     Operational RNA code for amino acids: species-specific
            aminoacylation of minihelices switched by a single nucleotide
  JOURNAL   Proc Natl Acad Sci U S A 92 (12), 5550-5552 (1995)
   PUBMED   7539919
REFERENCE   6  (bases 1 to 2437)
  AUTHORS   Williams,J., Osvath,S., Khong,T.F., Pearse,M. and Power,D.
  TITLE     Cloning, sequencing and bacterial expression of human glycine tRNA
            synthetase
  JOURNAL   Nucleic Acids Res 23 (8), 1307-1310 (1995)
   PUBMED   7753621
REFERENCE   7  (bases 1 to 2437)
  AUTHORS   Ge,Q., Trieu,E.P. and Targoff,I.N.
  TITLE     Primary structure and functional expression of human Glycyl-tRNA
            synthetase, an autoantigen in myositis
  JOURNAL   J Biol Chem 269 (46), 28790-28797 (1994)
   PUBMED   7961834
REFERENCE   8  (bases 1 to 2437)
  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 2437)
  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 2437)
  AUTHORS   Markovitz,R., Ghosh,R., Lotze,T. and Potocki,L.
  TITLE     GARS1-Associated Axonal Neuropathy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301420
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005154.1, DA386636.1,
            BC007755.2 and AA464978.1.
            
            On Nov 23, 2018 this sequence version replaced NM_002047.3.
            
            Summary: This gene encodes glycyl-tRNA synthetase, one of the
            aminoacyl-tRNA synthetases that charge tRNAs with their cognate
            amino acids. The encoded enzyme is an (alpha)2 dimer 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. Two transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Oct 2015].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            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 :: SRR3476690.394868.1, AK074524.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000389266.8/ ENSP00000373918.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-15                AC005154.1         137477-137491
            16-167              DA386636.1         213-364
            168-168             AC005154.1         137644-137644
            169-2315            BC007755.2         130-2276
            2316-2437           AA464978.1         11-132              c
FEATURES             Location/Qualifiers
     source          1..2437
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p14.3"
     gene            1..2437
                     /gene="GARS1"
                     /gene_synonym="CMT2D; DSMAV; GARS; GlyRS; HMN5; HMN5A;
                     HMND5; SMAD1; SMAJI"
                     /note="glycyl-tRNA synthetase 1"
                     /db_xref="GeneID:2617"
                     /db_xref="HGNC:HGNC:4162"
                     /db_xref="MIM:600287"
     exon            1..266
                     /gene="GARS1"
                     /gene_synonym="CMT2D; DSMAV; GARS; GlyRS; HMN5; HMN5A;
                     HMND5; SMAD1; SMAJI"
                     /inference="alignment:Splign:2.1.0"
     CDS             45..2264
                     /gene="GARS1"
                     /gene_synonym="CMT2D; DSMAV; GARS; GlyRS; HMN5; HMN5A;
                     HMND5; SMAD1; SMAJI"
                     /EC_number="6.1.1.14"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; Charcot-Marie-Tooth neuropathy, neuronal type,
                     D; Charcot-Marie-Tooth neuropathy 2D; AP-4-A synthetase;
                     diadenosine tetraphosphate synthetase; glycine--tRNA
                     ligase; ap4A synthetase"
                     /codon_start=1
                     /product="glycine--tRNA ligase isoform 1 precursor"
                     /protein_id="NP_002038.2"
                     /db_xref="CCDS:CCDS43564.1"
                     /db_xref="GeneID:2617"
                     /db_xref="HGNC:HGNC:4162"
                     /db_xref="MIM:600287"
                     /translation="MPSPRPVLLRGARAALLLLLPPRLLARPSLLLRRSLSAASCPPI
                     SLPAAASRSSMDGAGAEEVLAPLRLAVRQQGDLVRKLKEDKAPQVDVDKAVAELKARK
                     RVLEAKELALQPKDDIVDRAKMEDTLKRRFFYDQAFAIYGGVSGLYDFGPVGCALKNN
                     IIQTWRQHFIQEEQILEIDCTMLTPEPVLKTSGHVDKFADFMVKDVKNGECFRADHLL
                     KAHLQKLMSDKKCSVEKKSEMESVLAQLDNYGQQELADLFVNYNVKSPITGNDLSPPV
                     SFNLMFKTFIGPGGNMPGYLRPETAQGIFLNFKRLLEFNQGKLPFAAAQIGNSFRNEI
                     SPRSGLIRVREFTMAEIEHFVDPSEKDHPKFQNVADLHLYLYSAKAQVSGQSARKMRL
                     GDAVEQGVINNTVLGYFIGRIYLYLTKVGISPDKLRFRQHMENEMAHYACDCWDAESK
                     TSYGWIEIVGCADRSCYDLSCHARATKVPLVAEKPLKEPKTVNVVQFEPSKGAIGKAY
                     KKDAKLVMEYLAICDECYITEMEMLLNEKGEFTIETEGKTFQLTKDMINVKRFQKTLY
                     VEEVVPNVIEPSFGLGRIMYTVFEHTFHVREGDEQRTFFSFPAVVAPFKCSVLPLSQN
                     QEFMPFVKELSEALTRHGVSHKVDDSSGSIGRRYARTDEIGVAFGVTIDFDTVNKTPH
                     TATLRDRDSMRQIRAEISELPSIVQDLANGNITWADVEARYPLFEGQETGKKETIEE"
     exon            267..368
                     /gene="GARS1"
                     /gene_synonym="CMT2D; DSMAV; GARS; GlyRS; HMN5; HMN5A;
                     HMND5; SMAD1; SMAJI"
                     /inference="alignment:Splign:2.1.0"
     exon            369..471
                     /gene="GARS1"
                     /gene_synonym="CMT2D; DSMAV; GARS; GlyRS; HMN5; HMN5A;
                     HMND5; SMAD1; SMAJI"
                     /inference="alignment:Splign:2.1.0"
     exon            472..613
                     /gene="GARS1"
                     /gene_synonym="CMT2D; DSMAV; GARS; GlyRS; HMN5; HMN5A;
                     HMND5; SMAD1; SMAJI"
                     /inference="alignment:Splign:2.1.0"
     exon            614..702
                     /gene="GARS1"
                     /gene_synonym="CMT2D; DSMAV; GARS; GlyRS; HMN5; HMN5A;
                     HMND5; SMAD1; SMAJI"
                     /inference="alignment:Splign:2.1.0"
     exon            703..779
                     /gene="GARS1"
                     /gene_synonym="CMT2D; DSMAV; GARS; GlyRS; HMN5; HMN5A;
                     HMND5; SMAD1; SMAJI"
                     /inference="alignment:Splign:2.1.0"
     exon            780..925
                     /gene="GARS1"
                     /gene_synonym="CMT2D; DSMAV; GARS; GlyRS; HMN5; HMN5A;
                     HMND5; SMAD1; SMAJI"
                     /inference="alignment:Splign:2.1.0"
     exon            926..1075
                     /gene="GARS1"
                     /gene_synonym="CMT2D; DSMAV; GARS; GlyRS; HMN5; HMN5A;
                     HMND5; SMAD1; SMAJI"
                     /inference="alignment:Splign:2.1.0"
     exon            1076..1238
                     /gene="GARS1"
                     /gene_synonym="CMT2D; DSMAV; GARS; GlyRS; HMN5; HMN5A;
                     HMND5; SMAD1; SMAJI"
                     /inference="alignment:Splign:2.1.0"
     exon            1239..1403
                     /gene="GARS1"
                     /gene_synonym="CMT2D; DSMAV; GARS; GlyRS; HMN5; HMN5A;
                     HMND5; SMAD1; SMAJI"
                     /inference="alignment:Splign:2.1.0"
     exon            1404..1511
                     /gene="GARS1"
                     /gene_synonym="CMT2D; DSMAV; GARS; GlyRS; HMN5; HMN5A;
                     HMND5; SMAD1; SMAJI"
                     /inference="alignment:Splign:2.1.0"
     exon            1512..1657
                     /gene="GARS1"
                     /gene_synonym="CMT2D; DSMAV; GARS; GlyRS; HMN5; HMN5A;
                     HMND5; SMAD1; SMAJI"
                     /inference="alignment:Splign:2.1.0"
     exon            1658..1743
                     /gene="GARS1"
                     /gene_synonym="CMT2D; DSMAV; GARS; GlyRS; HMN5; HMN5A;
                     HMND5; SMAD1; SMAJI"
                     /inference="alignment:Splign:2.1.0"
     exon            1744..1853
                     /gene="GARS1"
                     /gene_synonym="CMT2D; DSMAV; GARS; GlyRS; HMN5; HMN5A;
                     HMND5; SMAD1; SMAJI"
                     /inference="alignment:Splign:2.1.0"
     exon            1854..1947
                     /gene="GARS1"
                     /gene_synonym="CMT2D; DSMAV; GARS; GlyRS; HMN5; HMN5A;
                     HMND5; SMAD1; SMAJI"
                     /inference="alignment:Splign:2.1.0"
     exon            1948..2138
                     /gene="GARS1"
                     /gene_synonym="CMT2D; DSMAV; GARS; GlyRS; HMN5; HMN5A;
                     HMND5; SMAD1; SMAJI"
                     /inference="alignment:Splign:2.1.0"
     exon            2139..2437
                     /gene="GARS1"
                     /gene_synonym="CMT2D; DSMAV; GARS; GlyRS; HMN5; HMN5A;
                     HMND5; SMAD1; SMAJI"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2411..2416
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GARS1"
                     /gene_synonym="CMT2D; DSMAV; GARS; GlyRS; HMN5; HMN5A;
                     HMND5; SMAD1; SMAJI"
                     /note="hexamer: ATTAAA"
     polyA_site      2437
                     /gene="GARS1"
                     /gene_synonym="CMT2D; DSMAV; GARS; GlyRS; HMN5; HMN5A;
                     HMND5; SMAD1; SMAJI"
                     /note="major polyA site"
ORIGIN      
        1 gcttccgtcg ccaccctctc tggacagccc agggccgcag gctcatgccc tctccgcgtc
       61 cagtgctgct tagaggtgct cgcgccgctc tgctgctgct gctgccgccc cggctcttag
      121 cccgaccctc gctcctgctc cgccggtccc tcagcgcggc ctcctgcccc ccgatctcct
      181 tgcccgccgc cgcctcccgg agcagcatgg acggcgcggg ggctgaggag gtgctggcac
      241 ctctgaggct agcagtgcgc cagcagggag atcttgtgcg aaaactcaaa gaagataaag
      301 caccccaagt agacgtagac aaagcagtgg ctgagctcaa agcccgcaag agggttctgg
      361 aagcaaagga gctggcgtta cagcccaaag atgatattgt agaccgagca aaaatggaag
      421 ataccctgaa gaggaggttt ttctatgatc aagcttttgc tatttatgga ggtgttagtg
      481 gtctgtatga ctttgggcca gttggctgtg ctttgaagaa caatattatt cagacctgga
      541 ggcagcactt tatccaagag gaacagatcc tggagatcga ttgcaccatg ctcacccctg
      601 agccagtttt aaagacctct ggccatgtag acaaatttgc tgacttcatg gtgaaagacg
      661 taaaaaatgg agaatgtttt cgtgctgacc atctattaaa agctcattta cagaaattga
      721 tgtctgataa gaagtgttct gtcgaaaaga aatcagaaat ggaaagtgtt ttggcccagc
      781 ttgataacta tggacagcaa gaacttgcgg atctttttgt gaactataat gtaaaatctc
      841 ccattactgg aaatgatcta tcccctccag tgtcttttaa cttaatgttc aagactttca
      901 ttgggcctgg aggaaacatg cctgggtact tgagaccaga aactgcacag gggattttct
      961 tgaatttcaa acgacttttg gagttcaacc aaggaaagtt gccttttgct gctgcccaga
     1021 ttggaaattc ttttagaaat gagatctccc ctcgatctgg actgatcaga gtcagagaat
     1081 tcacaatggc agaaattgag cactttgtag atcccagtga gaaagaccac cccaagttcc
     1141 agaatgtggc agaccttcac ctttatttgt attcagcaaa agcccaggtc agcggacagt
     1201 ccgctcggaa aatgcgcctg ggagatgctg ttgaacaggg tgtgattaat aacacagtat
     1261 taggctattt cattggccgc atctacctct acctcacgaa ggttggaata tctccagata
     1321 aactccgctt ccggcagcac atggagaatg agatggccca ttatgcctgt gactgttggg
     1381 atgcagaatc caaaacatcc tacggttgga ttgagattgt tggatgtgct gatcgttcct
     1441 gttatgacct ctcctgtcat gcacgagcca ccaaagtccc acttgtagct gagaaacctc
     1501 tgaaagaacc caaaacagtc aatgttgttc agtttgaacc cagtaaggga gcaattggta
     1561 aggcatataa gaaggatgca aaactggtga tggagtatct tgccatttgt gatgagtgct
     1621 acattacaga aatggagatg ctgctgaatg agaaagggga attcacaatt gaaactgaag
     1681 ggaaaacatt tcagttaaca aaagacatga tcaatgtgaa gagattccag aaaacactat
     1741 atgtggaaga agttgttccg aatgtaattg aaccttcctt cggcctgggt aggatcatgt
     1801 atacggtatt tgaacataca ttccatgtac gagaaggaga tgaacagaga acattcttca
     1861 gtttccctgc tgtagttgct ccattcaaat gttccgtcct cccactgagc caaaaccagg
     1921 agttcatgcc atttgtcaag gaattatcgg aagccctgac caggcatgga gtatctcaca
     1981 aagtagacga ttcctctggg tcaatcggaa ggcgctatgc caggactgat gagattggcg
     2041 tggcttttgg tgtcaccatt gactttgaca cagtgaacaa gaccccccac actgcaactc
     2101 tgagggaccg tgactcaatg cggcagataa gagcagagat ctctgagctg cccagcatag
     2161 tccaagacct agccaatggc aacatcacat gggctgatgt ggaggccagg tatcctctgt
     2221 ttgaagggca agagactggt aaaaaagaga caatcgagga atgaggacaa ttttgacaac
     2281 ttttgaccac ttgcgctaat aaaaaaaaaa aaaaactact cttatgtcca ctttacaaaa
     2341 gaaaacagca ttgtgattac tcccagggac cgtattttat cttcagtggc tgcctgattt
     2401 tacccccaca attaaagttg aaggaatcct gaacaaa
//
