LOCUS       NM_001349               3099 bp    mRNA    linear   PRI 27-APR-2025
DEFINITION  Homo sapiens aspartyl-tRNA synthetase 1 (DARS1), transcript variant
            1, mRNA.
ACCESSION   NM_001349
VERSION     NM_001349.4
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 3099)
  AUTHORS   Xiong,H., Liao,M., Zhang,H., Li,Y., Bai,J., Zhang,J., Li,L. and
            Zhang,L.
  TITLE     DARS expression in BCR/ABL1-negative myeloproliferative neoplasms
            and its association with the immune microenvironment
  JOURNAL   Sci Rep 14 (1), 16711 (2024)
   PUBMED   39030308
  REMARK    GeneRIF: DARS expression in BCR/ABL1-negative myeloproliferative
            neoplasms and its association with the immune microenvironment.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3099)
  AUTHORS   Liu,B., Katoh,H., Komura,D., Yamamoto,A., Ochi,M., Onoyama,T.,
            Abe,H., Ushiku,T., Seto,Y., Suo,J. and Ishikawa,S.
  TITLE     Functional genomics screening identifies aspartyl-tRNA synthetase
            as a novel prognostic marker and a therapeutic target for gastric
            cancers
  JOURNAL   J Pathol 258 (2), 106-120 (2022)
   PUBMED   35696251
  REMARK    GeneRIF: Functional genomics screening identifies aspartyl-tRNA
            synthetase as a novel prognostic marker and a therapeutic target
            for gastric cancers.
REFERENCE   3  (bases 1 to 3099)
  AUTHORS   Klugmann,M., Kalotay,E., Delerue,F., Ittner,L.M., Bongers,A.,
            Yu,J., Morris,M.J., Housley,G.D. and Frohlich,D.
  TITLE     Developmental delay and late onset HBSL pathology in hypomorphic
            Dars1M256L mice
  JOURNAL   Neurochem Res 47 (7), 1972-1984 (2022)
   PUBMED   35357600
  REMARK    GeneRIF: Developmental delay and late onset HBSL pathology in
            hypomorphic Dars1(M256L) mice.
            Erratum:[Neurochem Res. 2022 Jul;47(7):1985-1990. doi:
            10.1007/s11064-022-03602-3. PMID: 35449376]
REFERENCE   4  (bases 1 to 3099)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 3099)
  AUTHORS   Gonzalez-Serrano,L.E., Karim,L., Pierre,F., Schwenzer,H., Rotig,A.,
            Munnich,A. and Sissler,M.
  TITLE     Three human aminoacyl-tRNA synthetases have distinct
            sub-mitochondrial localizations that are unaffected by
            disease-associated mutations
  JOURNAL   J Biol Chem 293 (35), 13604-13615 (2018)
   PUBMED   30006346
  REMARK    GeneRIF: This study demonstrates that human mitochondrial AspRS,
            ArgRS, and LysRS, each have a specific sub-mitochondrial
            distribution, with ArgRS being exclusively localized in the
            membrane, LysRS exclusively in the soluble fraction, and AspRS
            being present in both.
REFERENCE   6  (bases 1 to 3099)
  AUTHORS   Rho,S.B., Kim,M.J., Lee,J.S., Seol,W., Motegi,H., Kim,S. and
            Shiba,K.
  TITLE     Genetic dissection of protein-protein interactions in multi-tRNA
            synthetase complex
  JOURNAL   Proc Natl Acad Sci U S A 96 (8), 4488-4493 (1999)
   PUBMED   10200289
REFERENCE   7  (bases 1 to 3099)
  AUTHORS   Quevillon,S., Robinson,J.C., Berthonneau,E., Siatecka,M. and
            Mirande,M.
  TITLE     Macromolecular assemblage of aminoacyl-tRNA synthetases:
            identification of protein-protein interactions and characterization
            of a core protein
  JOURNAL   J Mol Biol 285 (1), 183-195 (1999)
   PUBMED   9878398
REFERENCE   8  (bases 1 to 3099)
  AUTHORS   Reed,V.S., Wastney,M.E. and Yang,D.C.
  TITLE     Mechanisms of the transfer of aminoacyl-tRNA from aminoacyl-tRNA
            synthetase to the elongation factor 1 alpha
  JOURNAL   J Biol Chem 269 (52), 32932-32936 (1994)
   PUBMED   7806521
REFERENCE   9  (bases 1 to 3099)
  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 3099)
  AUTHORS   Jacobo-Molina,A., Peterson,R. and Yang,D.C.
  TITLE     cDNA sequence, predicted primary structure, and evolving
            amphiphilic helix of human aspartyl-tRNA synthetase
  JOURNAL   J Biol Chem 264 (28), 16608-16612 (1989)
   PUBMED   2674137
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA597505.1, BC000629.2,
            BU615302.1, AC011999.9 and BX101357.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001349.3.
            
            Summary: This gene encodes a member of a multienzyme complex that
            functions in mediating the attachment of amino acids to their
            cognate tRNAs. The encoded protein ligates L-aspartate to
            tRNA(Asp). Mutations in this gene have been found in patients
            showing hypomyelination with brainstem and spinal cord involvement
            and leg spasticity. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Jun 2014].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript 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 :: AK129521.1, SRR3476690.947879.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264161.9/ ENSP00000264161.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-109               DA597505.1         59-167
            110-1718            BC000629.2         1-1609
            1719-2296           BU615302.1         19-596              c
            2297-2799           AC011999.9         34299-34801         c
            2800-3099           BX101357.1         28-327
FEATURES             Location/Qualifiers
     source          1..3099
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q21.3"
     gene            1..3099
                     /gene="DARS1"
                     /gene_synonym="aspRS; DARS; HBSL"
                     /note="aspartyl-tRNA synthetase 1"
                     /db_xref="GeneID:1615"
                     /db_xref="HGNC:HGNC:2678"
                     /db_xref="MIM:603084"
     exon            1..224
                     /gene="DARS1"
                     /gene_synonym="aspRS; DARS; HBSL"
                     /inference="alignment:Splign:2.1.0"
     CDS             159..1664
                     /gene="DARS1"
                     /gene_synonym="aspRS; DARS; HBSL"
                     /EC_number="6.1.1.12"
                     /note="isoform 1 is encoded by transcript variant 1;
                     aspartate tRNA ligase 1, cytoplasmic; aspartyl-tRNA
                     synthetase, cytoplasmic; cell proliferation-inducing gene
                     40 protein; testicular tissue protein Li 192"
                     /codon_start=1
                     /product="aspartate--tRNA ligase, cytoplasmic isoform 1"
                     /protein_id="NP_001340.2"
                     /db_xref="CCDS:CCDS2180.1"
                     /db_xref="GeneID:1615"
                     /db_xref="HGNC:HGNC:2678"
                     /db_xref="MIM:603084"
                     /translation="MPSASASRKSQEKPREIMDAAEDYAKERYGISSMIQSQEKPDRV
                     LVRVRDLTIQKADEVVWVRARVHTSRAKGKQCFLVLRQQQFNVQALVAVGDHASKQMV
                     KFAANINKESIVDVEGVVRKVNQKIGSCTQQDVELHVQKIYVISLAEPRLPLQLDDAV
                     RPEAEGEEEGRATVNQDTRLDNRVIDLRTSTSQAVFRLQSGICHLFRETLINKGFVEI
                     QTPKIISAASEGGANVFTVSYFKNNAYLAQSPQLYKQMCICADFEKVFSIGPVFRAED
                     SNTHRHLTEFVGLDIEMAFNYHYHEVMEEIADTMVQIFKGLQERFQTEIQTVNKQFPC
                     EPFKFLEPTLRLEYCEALAMLREAGVEMGDEDDLSTPNEKLLGHLVKEKYDTDFYILD
                     KYPLAVRPFYTMPDPRNPKQSNSYDMFMRGEEILSGAQRIHDPQLLTERALHHGIDLE
                     KIKAYIDSFRFGAPPHAGGGIGLERVTMLFLGLHNVRQTSMFPRDPKRLTP"
     exon            225..282
                     /gene="DARS1"
                     /gene_synonym="aspRS; DARS; HBSL"
                     /inference="alignment:Splign:2.1.0"
     exon            283..375
                     /gene="DARS1"
                     /gene_synonym="aspRS; DARS; HBSL"
                     /inference="alignment:Splign:2.1.0"
     exon            376..478
                     /gene="DARS1"
                     /gene_synonym="aspRS; DARS; HBSL"
                     /inference="alignment:Splign:2.1.0"
     exon            479..581
                     /gene="DARS1"
                     /gene_synonym="aspRS; DARS; HBSL"
                     /inference="alignment:Splign:2.1.0"
     exon            582..662
                     /gene="DARS1"
                     /gene_synonym="aspRS; DARS; HBSL"
                     /inference="alignment:Splign:2.1.0"
     exon            663..722
                     /gene="DARS1"
                     /gene_synonym="aspRS; DARS; HBSL"
                     /inference="alignment:Splign:2.1.0"
     exon            723..834
                     /gene="DARS1"
                     /gene_synonym="aspRS; DARS; HBSL"
                     /inference="alignment:Splign:2.1.0"
     exon            835..969
                     /gene="DARS1"
                     /gene_synonym="aspRS; DARS; HBSL"
                     /inference="alignment:Splign:2.1.0"
     exon            970..1117
                     /gene="DARS1"
                     /gene_synonym="aspRS; DARS; HBSL"
                     /inference="alignment:Splign:2.1.0"
     exon            1118..1264
                     /gene="DARS1"
                     /gene_synonym="aspRS; DARS; HBSL"
                     /inference="alignment:Splign:2.1.0"
     exon            1265..1307
                     /gene="DARS1"
                     /gene_synonym="aspRS; DARS; HBSL"
                     /inference="alignment:Splign:2.1.0"
     exon            1308..1388
                     /gene="DARS1"
                     /gene_synonym="aspRS; DARS; HBSL"
                     /inference="alignment:Splign:2.1.0"
     exon            1389..1500
                     /gene="DARS1"
                     /gene_synonym="aspRS; DARS; HBSL"
                     /inference="alignment:Splign:2.1.0"
     exon            1501..1572
                     /gene="DARS1"
                     /gene_synonym="aspRS; DARS; HBSL"
                     /inference="alignment:Splign:2.1.0"
     exon            1573..3099
                     /gene="DARS1"
                     /gene_synonym="aspRS; DARS; HBSL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2280..2285
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DARS1"
                     /gene_synonym="aspRS; DARS; HBSL"
                     /note="hexamer: AATAAA"
     polyA_site      2298
                     /gene="DARS1"
                     /gene_synonym="aspRS; DARS; HBSL"
                     /note="major polyA site"
     regulatory      2396..2401
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DARS1"
                     /gene_synonym="aspRS; DARS; HBSL"
                     /note="hexamer: AATAAA"
     polyA_site      2418
                     /gene="DARS1"
                     /gene_synonym="aspRS; DARS; HBSL"
ORIGIN      
        1 atctttctgg agccgcacct ccacgcggag tccgagcgcg tgtgctgaga ccccagggtc
       61 gggagggcgg agactgggag ggagggagaa gcccctttgg cctgccttac ggaagcctgc
      121 gagggagggt ggtgtccact gcccagttcc gtgtcccgat gcccagcgcc agcgccagcc
      181 gcaagagtca ggagaagccg cgggagatca tggacgcggc ggaagattat gctaaagaga
      241 gatatggaat atcttcaatg atacaatcac aagaaaaacc agatcgagtt ttggttcggg
      301 ttagagactt gacaatacaa aaagctgatg aagttgtttg ggtacgtgca agagttcata
      361 caagcagagc taaagggaaa cagtgcttct tagtcctacg tcagcagcag tttaatgtcc
      421 aggctcttgt ggcggtggga gaccatgcaa gcaagcagat ggttaaattt gctgccaaca
      481 tcaacaaaga gagcattgtg gatgtagaag gtgttgtgag aaaagtgaat cagaaaattg
      541 gaagctgtac acagcaagac gttgagttac atgttcagaa gatttatgtg atcagtttgg
      601 ctgaaccccg tctgcccctg cagctggatg atgctgttcg gcctgaggca gaaggagaag
      661 aggaaggaag agctactgtt aaccaggata caagattaga caacagagtc attgatctta
      721 ggacatcaac tagtcaggca gtcttccgtc tccagtctgg catctgccat ctcttccgag
      781 aaactttaat taacaaaggt tttgtggaaa tccaaactcc taaaattatt tcagctgcca
      841 gtgaaggagg agccaatgtt tttactgtgt catattttaa aaataatgca tacctggctc
      901 agtccccaca gctatataag caaatgtgca tttgtgctga ttttgagaag gttttctcta
      961 ttggaccagt attcagagcg gaagactcta atacccatag acatctaact gagtttgttg
     1021 gtttggacat tgaaatggct tttaattacc attaccacga agttatggaa gaaattgctg
     1081 acaccatggt acaaatattc aaaggacttc aagaaaggtt tcagactgaa attcaaacag
     1141 tgaataaaca gttcccatgt gagccattca aatttttgga gccaactcta agactagaat
     1201 attgtgaagc attggctatg cttagggaag ctggagtcga aatgggagat gaagacgatc
     1261 tgagcacacc aaatgaaaag ctgttgggtc atttggtaaa ggaaaagtat gatacagatt
     1321 tttatattct tgataaatat ccattggctg taagaccttt ctataccatg cctgacccaa
     1381 gaaatcccaa acagtccaac tcttacgata tgttcatgag aggagaagaa atattgtcag
     1441 gagctcaaag aatacatgat cctcaactgc taacagagag agctttacat catggaattg
     1501 atttggagaa aattaaggct tacattgatt ccttccgctt tggagcccct cctcatgctg
     1561 gtggaggcat tggattggaa cgagttacta tgctgtttct gggattgcat aatgttcgtc
     1621 agacctccat gttccctcgt gatcccaaac gactcactcc ttaaattcac actttgccac
     1681 ttaactccag tgtggatgac agagcgagac cctgcctcaa aaaaaaaaaa aaaaaaagaa
     1741 agccacactt attcttttca gtaacctgct agtgcacagg ctgtacttta ggtacttaaa
     1801 atatgcacta gaataaattt gcaaggccct aaaatatcac tgttattttt ggagtaattc
     1861 agtataggtt cgtttaaaag agatttttat aacttcagac atgcatcagt aggaaataac
     1921 ttgagaaatt catatggtta tgttacaaat tcatattctg ttactacagt aaacgttaag
     1981 agttttaaac agttaagatt gtacaatttt tcttcttttc tatattacaa gggccccagt
     2041 gttaatgtct tagattttca gtatttgaac ttattttttt aaattctgtc attgagataa
     2101 gaataattca ggtagcatct gaaattttaa tgaatgtata attggcatat catggaaaat
     2161 taaccagaaa gtatcagttc ttaaaagtta tgcctagaaa ttatgtaaag ctaaactact
     2221 ggttagaaag tattcagtgt aatattgtat taatttgtta aattctaaac ttgaatttca
     2281 ataaaatttt aaagctaatt gtagtttttg tgtaactttg tggccaactg attttgtaag
     2341 tggtgctagg cattcataat ttggtaaaag aaaaaataca caactagttt atataaataa
     2401 agactaatat gttgtcaaca tgtattcatt tcaggatatt agtttagatg ggcgtaggga
     2461 tagagctctt aaagttgaca gcttgggtcg gttgacagag ttcatttcac atgggttaaa
     2521 atatattgca gaattttgtt tgatttttaa ctggaatggt actgatactt agtgaatgtc
     2581 agtaaaatcc agtcccatct tatccgtcaa aaagaaattt ttgtgtaaga attagttaga
     2641 aacactttcc ctctagatta ttacaaatgt tgatgctaat gttaatttta catgaccaca
     2701 aatattgggg aggaacaaaa cataacatat ttttgtacag gaagaaaaaa ttacatgcag
     2761 aaaaatatga gggtcaaaaa gttaggaagt tacccctgga ccacgaacat ctgcccatta
     2821 tgtttgaaag ttaaaggggg tgtttaccat ctatattgta cagtctttga aagtttagat
     2881 tcagttctta tttttttctt tcatatccta ccagaatacc ttaaatatag aaggcacccc
     2941 aaaagtattt cataatttaa tccacagcaa gaataaaata tccatcttct atagtgtgta
     3001 attgctagac cctaaaatag tacaataata ttggccctag agctgttctt aatttcatgt
     3061 aattatagct tgtttcaaaa taaagtttgt aaagtctta
//
