LOCUS       NM_001605               3437 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens alanyl-tRNA synthetase 1 (AARS1), mRNA.
ACCESSION   NM_001605
VERSION     NM_001605.3
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 3437)
  AUTHORS   Li,H., Liu,C., Li,R., Zhou,L., Ran,Y., Yang,Q., Huang,H., Lu,H.,
            Song,H., Yang,B., Ru,H., Lin,S. and Zhang,L.
  TITLE     AARS1 and AARS2 sense L-lactate to regulate cGAS as global lysine
            lactyltransferases
  JOURNAL   Nature 634 (8036), 1229-1237 (2024)
   PUBMED   39322678
REFERENCE   2  (bases 1 to 3437)
  AUTHORS   Zong,Z., Xie,F., Wang,S., Wu,X., Zhang,Z., Yang,B. and Zhou,F.
  TITLE     Alanyl-tRNA synthetase, AARS1, is a lactate sensor and
            lactyltransferase that lactylates p53 and contributes to
            tumorigenesis
  JOURNAL   Cell 187 (10), 2375-2392 (2024)
   PUBMED   38653238
  REMARK    GeneRIF: Alanyl-tRNA synthetase, AARS1, is a lactate sensor and
            lactyltransferase that lactylates p53 and contributes to
            tumorigenesis.
REFERENCE   3  (bases 1 to 3437)
  AUTHORS   Ju,J., Zhang,H., Lin,M., Yan,Z., An,L., Cao,Z., Geng,D., Yue,J.,
            Tang,Y., Tian,L., Chen,F., Han,Y., Wang,W., Zhao,S., Jiao,S. and
            Zhou,Z.
  TITLE     The alanyl-tRNA synthetase AARS1 moonlights as a lactyltransferase
            to promote YAP signaling in gastric cancer
  JOURNAL   J Clin Invest 134 (10), e174587 (2024)
   PUBMED   38512451
  REMARK    GeneRIF: The alanyl-tRNA synthetase AARS1 moonlights as a
            lactyltransferase to promote YAP signaling in gastric cancer.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3437)
  AUTHORS   Meyer-Schuman,R., Marte,S., Smith,T.J., Feely,S.M.E., Kennerson,M.,
            Nicholson,G., Shy,M.E., Koutmou,K.S. and Antonellis,A.
  TITLE     A humanized yeast model reveals dominant-negative properties of
            neuropathy-associated alanyl-tRNA synthetase mutations
  JOURNAL   Hum Mol Genet 32 (13), 2177-2191 (2023)
   PUBMED   37010095
  REMARK    GeneRIF: A humanized yeast model reveals dominant-negative
            properties of neuropathy-associated alanyl-tRNA synthetase
            mutations.
REFERENCE   5  (bases 1 to 3437)
  AUTHORS   Shiba,K., Ripmaster,T., Suzuki,N., Nichols,R., Plotz,P., Noda,T.
            and Schimmel,P.
  TITLE     Human alanyl-tRNA synthetase: conservation in evolution of
            catalytic core and microhelix recognition
  JOURNAL   Biochemistry 34 (33), 10340-10349 (1995)
   PUBMED   7654687
REFERENCE   6  (bases 1 to 3437)
  AUTHORS   Ripmaster,T.L., Shiba,K. and Schimmel,P.
  TITLE     Wide cross-species aminoacyl-tRNA synthetase replacement in vivo:
            yeast cytoplasmic alanine enzyme replaced by human polymyositis
            serum antigen
  JOURNAL   Proc Natl Acad Sci U S A 92 (11), 4932-4936 (1995)
   PUBMED   7761427
REFERENCE   7  (bases 1 to 3437)
  AUTHORS   Matoba,R., Okubo,K., Hori,N., Fukushima,A. and Matsubara,K.
  TITLE     The addition of 5'-coding information to a 3'-directed cDNA library
            improves analysis of gene expression
  JOURNAL   Gene 146 (2), 199-207 (1994)
   PUBMED   8076819
REFERENCE   8  (bases 1 to 3437)
  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 3437)
  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 3437)
  AUTHORS   Francklyn,C. and Schimmel,P.
  TITLE     Aminoacylation of RNA minihelices with alanine
  JOURNAL   Nature 337 (6206), 478-481 (1989)
   PUBMED   2915692
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from D32050.1, BC011451.1,
            BG764123.1, BU178772.1 and AC009060.7.
            
            On Nov 21, 2019 this sequence version replaced NM_001605.2.
            
            Summary: The human alanyl-tRNA synthetase (AARS) belongs to a
            family of tRNA synthases, of the class II enzymes.  Class II tRNA
            synthases evolved early in evolution and are highly conserved.
            This is reflected by the fact that 498 of the 968-residue
            polypeptide human AARS shares 41% identity witht the E.coli
            protein.  tRNA synthases are the enzymes that interpret the RNA
            code and attach specific aminoacids to the tRNAs that contain the
            cognate trinucleotide anticodons.  They consist of a catalytic
            domain which interacts with the amino acid acceptor-T psi C helix
            of the tRNA, and a second domain which interacts with the rest of
            the tRNA structure. [provided by RefSeq, Jul 2008].
            
            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 :: AK222824.1, D32050.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000261772.13/ ENSP00000261772.8
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-352               D32050.1           4-355
            353-1009            BC011451.1         288-944
            1010-1578           BG764123.1         9-577
            1579-2821           BC011451.1         1514-2756
            2822-3341           BU178772.1         234-753
            3342-3437           AC009060.7         153575-153670       c
FEATURES             Location/Qualifiers
     source          1..3437
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.1"
     gene            1..3437
                     /gene="AARS1"
                     /gene_synonym="AARS; CMT2N; DEE29; EIEE29; HDLS2; TTD8"
                     /note="alanyl-tRNA synthetase 1"
                     /db_xref="GeneID:16"
                     /db_xref="HGNC:HGNC:20"
                     /db_xref="MIM:601065"
     exon            1..86
                     /gene="AARS1"
                     /gene_synonym="AARS; CMT2N; DEE29; EIEE29; HDLS2; TTD8"
                     /inference="alignment:Splign:2.1.0"
     exon            87..251
                     /gene="AARS1"
                     /gene_synonym="AARS; CMT2N; DEE29; EIEE29; HDLS2; TTD8"
                     /inference="alignment:Splign:2.1.0"
     CDS             108..3014
                     /gene="AARS1"
                     /gene_synonym="AARS; CMT2N; DEE29; EIEE29; HDLS2; TTD8"
                     /EC_number="6.1.1.7"
                     /note="alanine tRNA ligase 1, cytoplasmic; protein
                     lactyltransferase AARS1; alanyl-tRNA synthetase,
                     cytoplasmic; alaRS; renal carcinoma antigen NY-REN-42"
                     /codon_start=1
                     /product="alanine--tRNA ligase, cytoplasmic"
                     /protein_id="NP_001596.2"
                     /db_xref="CCDS:CCDS32474.1"
                     /db_xref="GeneID:16"
                     /db_xref="HGNC:HGNC:20"
                     /db_xref="MIM:601065"
                     /translation="MDSTLTASEIRQRFIDFFKRNEHTYVHSSATIPLDDPTLLFANA
                     GMNQFKPIFLNTIDPSHPMAKLSRAANTQKCIRAGGKHNDLDDVGKDVYHHTFFEMLG
                     SWSFGDYFKELACKMALELLTQEFGIPIERLYVTYFGGDEAAGLEADLECKQIWQNLG
                     LDDTKILPGNMKDNFWEMGDTGPCGPCSEIHYDRIGGRDAAHLVNQDDPNVLEIWNLV
                     FIQYNREADGILKPLPKKSIDTGMGLERLVSVLQNKMSNYDTDLFVPYFEAIQKGTGA
                     RPYTGKVGAEDADGIDMAYRVLADHARTITVALADGGRPDNTGRGYVLRRILRRAVRY
                     AHEKLNASRGFFATLVDVVVQSLGDAFPELKKDPDMVKDIINEEEVQFLKTLSRGRRI
                     LDRKIQSLGDSKTIPGDTAWLLYDTYGFPVDLTGLIAEEKGLVVDMDGFEEERKLAQL
                     KSQGKGAGGEDLIMLDIYAIEELRARGLEVTDDSPKYNYHLDSSGSYVFENTVATVMA
                     LRREKMFVEEVSTGQECGVVLDKTCFYAEQGGQIYDEGYLVKVDDSSEDKTEFTVKNA
                     QVRGGYVLHIGTIYGDLKVGDQVWLFIDEPRRRPIMSNHTATHILNFALRSVLGEADQ
                     KGSLVAPDRLRFDFTAKGAMSTQQIKKAEEIANEMIEAAKAVYTQDCPLAAAKAIQGL
                     RAVFDETYPDPVRVVSIGVPVSELLDDPSGPAGSLTSVEFCGGTHLRNSSHAGAFVIV
                     TEEAIAKGIRRIVAVTGAEAQKALRKAESLKKCLSVMEAKVKAQTAPNKDVQREIADL
                     GEALATAVIPQWQKDELRETLKSLKKVMDDLDRASKADVQKRVLEKTKQFIDSNPNQP
                     LVILEMESGASAKALNEALKLFKMHSPQTSAMLFTVDNEAGKITCLCQVPQNAANRGL
                     KASEWVQQVSGLMDGKGGGKDVSAQATGKNVGCLQEALQLATSFAQLRLGDVKN"
     exon            252..440
                     /gene="AARS1"
                     /gene_synonym="AARS; CMT2N; DEE29; EIEE29; HDLS2; TTD8"
                     /inference="alignment:Splign:2.1.0"
     exon            441..586
                     /gene="AARS1"
                     /gene_synonym="AARS; CMT2N; DEE29; EIEE29; HDLS2; TTD8"
                     /inference="alignment:Splign:2.1.0"
     exon            587..778
                     /gene="AARS1"
                     /gene_synonym="AARS; CMT2N; DEE29; EIEE29; HDLS2; TTD8"
                     /inference="alignment:Splign:2.1.0"
     exon            779..923
                     /gene="AARS1"
                     /gene_synonym="AARS; CMT2N; DEE29; EIEE29; HDLS2; TTD8"
                     /inference="alignment:Splign:2.1.0"
     exon            924..1069
                     /gene="AARS1"
                     /gene_synonym="AARS; CMT2N; DEE29; EIEE29; HDLS2; TTD8"
                     /inference="alignment:Splign:2.1.0"
     exon            1070..1178
                     /gene="AARS1"
                     /gene_synonym="AARS; CMT2N; DEE29; EIEE29; HDLS2; TTD8"
                     /inference="alignment:Splign:2.1.0"
     exon            1179..1329
                     /gene="AARS1"
                     /gene_synonym="AARS; CMT2N; DEE29; EIEE29; HDLS2; TTD8"
                     /inference="alignment:Splign:2.1.0"
     exon            1330..1454
                     /gene="AARS1"
                     /gene_synonym="AARS; CMT2N; DEE29; EIEE29; HDLS2; TTD8"
                     /inference="alignment:Splign:2.1.0"
     exon            1455..1599
                     /gene="AARS1"
                     /gene_synonym="AARS; CMT2N; DEE29; EIEE29; HDLS2; TTD8"
                     /inference="alignment:Splign:2.1.0"
     exon            1600..1778
                     /gene="AARS1"
                     /gene_synonym="AARS; CMT2N; DEE29; EIEE29; HDLS2; TTD8"
                     /inference="alignment:Splign:2.1.0"
     exon            1779..1892
                     /gene="AARS1"
                     /gene_synonym="AARS; CMT2N; DEE29; EIEE29; HDLS2; TTD8"
                     /inference="alignment:Splign:2.1.0"
     exon            1893..2099
                     /gene="AARS1"
                     /gene_synonym="AARS; CMT2N; DEE29; EIEE29; HDLS2; TTD8"
                     /inference="alignment:Splign:2.1.0"
     exon            2100..2284
                     /gene="AARS1"
                     /gene_synonym="AARS; CMT2N; DEE29; EIEE29; HDLS2; TTD8"
                     /inference="alignment:Splign:2.1.0"
     exon            2285..2393
                     /gene="AARS1"
                     /gene_synonym="AARS; CMT2N; DEE29; EIEE29; HDLS2; TTD8"
                     /inference="alignment:Splign:2.1.0"
     exon            2394..2507
                     /gene="AARS1"
                     /gene_synonym="AARS; CMT2N; DEE29; EIEE29; HDLS2; TTD8"
                     /inference="alignment:Splign:2.1.0"
     exon            2508..2627
                     /gene="AARS1"
                     /gene_synonym="AARS; CMT2N; DEE29; EIEE29; HDLS2; TTD8"
                     /inference="alignment:Splign:2.1.0"
     exon            2628..2714
                     /gene="AARS1"
                     /gene_synonym="AARS; CMT2N; DEE29; EIEE29; HDLS2; TTD8"
                     /inference="alignment:Splign:2.1.0"
     exon            2715..2828
                     /gene="AARS1"
                     /gene_synonym="AARS; CMT2N; DEE29; EIEE29; HDLS2; TTD8"
                     /inference="alignment:Splign:2.1.0"
     exon            2829..3437
                     /gene="AARS1"
                     /gene_synonym="AARS; CMT2N; DEE29; EIEE29; HDLS2; TTD8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3324..3329
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AARS1"
                     /gene_synonym="AARS; CMT2N; DEE29; EIEE29; HDLS2; TTD8"
                     /note="hexamer: AATAAA"
     polyA_site      3350
                     /gene="AARS1"
                     /gene_synonym="AARS; CMT2N; DEE29; EIEE29; HDLS2; TTD8"
                     /note="major polyA site"
     regulatory      3418..3423
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AARS1"
                     /gene_synonym="AARS; CMT2N; DEE29; EIEE29; HDLS2; TTD8"
                     /note="hexamer: AATAAA"
     polyA_site      3437
                     /gene="AARS1"
                     /gene_synonym="AARS; CMT2N; DEE29; EIEE29; HDLS2; TTD8"
ORIGIN      
        1 acagctgcgc gtctgcggga ataggtgcag cgggcccttg gcgggggact ctgagggagg
       61 agctggggac ggcgacccta ggagagttct ttggggtgac tttcaagatg gactctactc
      121 taacagcaag tgaaatccgg cagcgattta tagatttctt caagaggaac gagcatacgt
      181 atgttcactc gtctgccacc atcccattgg atgaccccac tttgctcttt gccaatgcag
      241 gcatgaacca gtttaaaccc attttcctga acacaattga cccatctcac cccatggcaa
      301 agctgagcag agctgccaat acccagaagt gcatccgggc tgggggcaaa cataatgacc
      361 tggacgatgt gggcaaggat gtctatcatc acaccttctt cgagatgctg ggctcttggt
      421 cttttggaga ttactttaag gaattggcat gtaagatggc tctggaactc ctcacccaag
      481 agtttggcat tcccattgaa agactttatg ttacttactt tggcggggat gaagcagctg
      541 gcttagaagc agatctggaa tgcaaacaga tctggcaaaa tttggggctg gatgacacca
      601 aaatcctccc aggcaacatg aaggataact tctgggagat gggtgacacg ggcccctgtg
      661 gtccttgcag tgagatccac tacgaccgga ttggtggtcg ggacgccgca catcttgtca
      721 accaggacga ccctaatgtg ctggagatct ggaaccttgt gttcatccag tataacaggg
      781 aagctgatgg cattctgaaa cctcttccca agaaaagcat tgacacaggg atgggcctgg
      841 aacgactggt atctgtgctg cagaataaga tgtccaacta tgacactgac ctttttgtcc
      901 cttactttga agccattcag aagggcacag gtgcccgacc atacactggg aaagttggtg
      961 ctgaggatgc cgatgggatt gacatggcct accgggtgct ggctgaccac gctcggacca
     1021 tcactgtggc actggctgat ggtggccggc ctgacaacac agggcgtgga tatgtgttga
     1081 gacggattct ccgccgagct gtccgatacg cccatgaaaa gctcaatgcc agcaggggct
     1141 tctttgctac gttagtggat gttgtcgtcc agtccctggg agatgcattt cctgagctga
     1201 agaaggaccc agacatggtg aaggacatca ttaatgaaga agaggtgcag tttctcaaga
     1261 ctctcagcag agggcgtcgc atcctggaca ggaaaattca gagcctggga gacagcaaga
     1321 ccattcccgg agacactgct tggctcctct atgacaccta tgggtttcca gtggatctga
     1381 ctggactgat tgctgaagag aagggcctgg tggtagacat ggatggcttt gaagaggaga
     1441 ggaaactggc ccagctgaaa tcacagggca agggagctgg tggggaagac ctcattatgc
     1501 tggacattta cgctatcgaa gagctccggg cacggggtct ggaggtcaca gatgattccc
     1561 caaagtacaa ttaccatttg gactccagtg gtagctatgt atttgagaac acagtggcta
     1621 cggtgatggc tctgcgcagg gagaagatgt tcgtggaaga ggtgtccaca ggccaggagt
     1681 gtggagtggt gctggacaag acctgtttct atgctgagca aggaggccag atctatgacg
     1741 aaggctacct ggtgaaggtg gatgacagca gtgaagataa aacagagttt acagtgaaga
     1801 atgctcaggt ccgaggaggg tatgtgctac acattggaac catctacggt gacctgaaag
     1861 tgggggatca ggtctggctg tttattgatg agccccgacg aagacccatc atgagcaacc
     1921 acacagctac gcacattctg aacttcgccc tgcgctcagt gcttggggaa gctgaccaga
     1981 aaggctcatt ggttgctcct gaccgcctca gatttgactt tactgccaag ggagccatgt
     2041 ccacccaaca gatcaagaag gctgaagaga ttgctaatga gatgattgag gcagccaagg
     2101 ccgtctatac ccaggattgc cccctggcag cagcgaaagc catccagggc ctacgggctg
     2161 tgtttgatga gacctatcct gaccctgtgc gagtcgtctc cattggggtc ccggtgtccg
     2221 agttgctgga tgacccctct gggcctgctg gctccctgac ttctgttgag ttctgtgggg
     2281 gaacgcacct gcggaactcg agtcatgcag gagcttttgt gatcgtgacg gaagaagcca
     2341 ttgccaaggg tatccggagg attgtggctg tcacaggtgc cgaggcccag aaggccctca
     2401 ggaaagcaga gagcttgaag aaatgtctct ctgtcatgga agccaaagtg aaggctcaga
     2461 ctgctccaaa caaggatgtg cagagggaga tcgctgacct tggagaggcc ctggccactg
     2521 cagtcatccc ccagtggcag aaggatgaat tgcgggagac tctcaaatcc ctaaagaagg
     2581 tcatggatga cttggaccga gccagcaaag ccgatgtcca gaaacgagtg ttagagaaga
     2641 cgaagcagtt catcgacagc aaccccaacc agcctcttgt catcctggag atggagagcg
     2701 gcgcctcagc caaggccctg aatgaagcct tgaagctctt caagatgcac tcccctcaga
     2761 cttctgccat gctcttcacg gtggacaatg aggctggcaa gatcacgtgc ctgtgtcaag
     2821 ttccccagaa tgcagccaat cggggcttaa aagccagcga gtgggtgcag caggtgtcag
     2881 gcttgatgga cggtaaaggt ggtggcaagg atgtgtctgc acaggccaca ggcaagaacg
     2941 ttggctgcct gcaggaggcg ctgcagctgg ccacttcctt cgcccagctg cgcctcgggg
     3001 atgtaaagaa ctgagtgggg aaggaggagg ctcccactgg atccatccgt ccagccaaga
     3061 gctcttcatc tgctacaaga acatttgaat cttgggacct ttaaagagcc cctcctaacc
     3121 cagcagtaac tggaacacac ttgggagcag tcctatgtct cagtgcccct taaatttctg
     3181 ccctgagccc tccacgtcag tgccatcggt ctagaaccac taaccccgca ttgctgttga
     3241 tcgtcacgct cgcatctata gataacggct ctccagacct gagctttccg cgtcagcaag
     3301 taggaatcgt ttttgctgca gagaataaaa ggaccacgtg caatacttaa tgccgcatga
     3361 tctctatccc tcttcccaat aggggctggc tcttttgaca gcctttggcg tctgtagaat
     3421 aaatgctgtg gctcctg
//
