LOCUS       NM_002887               2122 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens arginyl-tRNA synthetase 1 (RARS1), mRNA.
ACCESSION   NM_002887 NM_032629
VERSION     NM_002887.4
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 2122)
  AUTHORS   Li,G., Eriani,G., Wang,E.D. and Zhou,X.L.
  TITLE     Distinct pathogenic mechanisms of various RARS1 mutations in
            Pelizaeus-Merzbacher-like disease
  JOURNAL   Sci China Life Sci 64 (10), 1645-1660 (2021)
   PUBMED   33515434
  REMARK    GeneRIF: Distinct pathogenic mechanisms of various RARS1 mutations
            in Pelizaeus-Merzbacher-like disease.
REFERENCE   2  (bases 1 to 2122)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 2122)
  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   4  (bases 1 to 2122)
  AUTHORS   Mendes,M.I., Green,L.M.C., Bertini,E., Tonduti,D., Aiello,C.,
            Smith,D., Salsano,E., Beerepoot,S., Hertecant,J., von Spiczak,S.,
            Livingston,J.H., Emrick,L., Fraser,J., Russell,L., Bernard,G.,
            Magri,S., Di Bella,D., Taroni,F., Koenig,M.K., Moroni,I.,
            Cappuccio,G., Brunetti-Pierri,N., Rhee,J., Mendelsohn,B.A.,
            Helbig,I., Helbig,K., Muhle,H., Ismayl,O., Vanderver,A.L.,
            Salomons,G.S., van der Knaap,M.S. and Wolf,N.I.
  TITLE     RARS1-related hypomyelinating leukodystrophy: Expanding the
            spectrum
  JOURNAL   Ann Clin Transl Neurol 7 (1), 83-93 (2020)
   PUBMED   31814314
  REMARK    GeneRIF: RARS1-related hypomyelinating leukodystrophy: Expanding
            the spectrum.
REFERENCE   5  (bases 1 to 2122)
  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 2122)
  AUTHORS   Girjes,A.A., Hobson,K., Chen,P. and Lavin,M.F.
  TITLE     Cloning and characterization of cDNA encoding a human arginyl-tRNA
            synthetase
  JOURNAL   Gene 164 (2), 347-350 (1995)
   PUBMED   7590355
REFERENCE   7  (bases 1 to 2122)
  AUTHORS   Shiba,K., Suzuki,N., Shigesada,K., Namba,Y., Schimmel,P. and
            Noda,T.
  TITLE     Human cytoplasmic isoleucyl-tRNA synthetase: selective divergence
            of the anticodon-binding domain and acquisition of a new structural
            unit
  JOURNAL   Proc Natl Acad Sci U S A 91 (16), 7435-7439 (1994)
   PUBMED   8052601
REFERENCE   8  (bases 1 to 2122)
  AUTHORS   Norcum,M.T.
  TITLE     Structural analysis of the high molecular mass aminoacyl-tRNA
            synthetase complex. Effects of neutral salts and detergents
  JOURNAL   J Biol Chem 266 (23), 15398-15405 (1991)
   PUBMED   1651330
REFERENCE   9  (bases 1 to 2122)
  AUTHORS   Wang,H.Y. and Pan,F.
  TITLE     Kinetic mechanism of arginyl-tRNA synthetase from human placenta
  JOURNAL   Int J Biochem 16 (12), 1379-1385 (1984)
   PUBMED   6530022
REFERENCE   10 (bases 1 to 2122)
  AUTHORS   McCune,S.A., Yu,P.L. and Nance,W.E.
  TITLE     A genetic study of erythrocyte arginine-tRNA synthetase activity in
            man
  JOURNAL   Acta Genet Med Gemellol (Roma) 26 (1), 21-27 (1977)
   PUBMED   562050
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AU125370.1, BT007394.1,
            BM984528.1 and CA439316.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_002887.3.
            
            Summary: Aminoacyl-tRNA synthetases catalyze the aminoacylation of
            tRNA by their cognate amino acid. Because of their central role in
            linking amino acids with nucleotide triplets contained in tRNAs,
            aminoacyl-tRNA synthetases are thought to be among the first
            proteins that appeared in evolution. Arginyl-tRNA synthetase
            belongs to the class-I aminoacyl-tRNA synthetase family. [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 :: SRR3476690.1146952.1,
                                           SRR1803616.190698.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000231572.8/ ENSP00000231572.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-34                AU125370.1         15-48
            35-1524             BT007394.1         7-1496
            1525-2120           BM984528.1         18-613              c
            2121-2122           CA439316.1         20-21               c
FEATURES             Location/Qualifiers
     source          1..2122
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q34"
     gene            1..2122
                     /gene="RARS1"
                     /gene_synonym="ArgRS; DALRD1; HLD9; RARS"
                     /note="arginyl-tRNA synthetase 1"
                     /db_xref="GeneID:5917"
                     /db_xref="HGNC:HGNC:9870"
                     /db_xref="MIM:107820"
     exon            1..73
                     /gene="RARS1"
                     /gene_synonym="ArgRS; DALRD1; HLD9; RARS"
                     /inference="alignment:Splign:2.1.0"
     CDS             29..2011
                     /gene="RARS1"
                     /gene_synonym="ArgRS; DALRD1; HLD9; RARS"
                     /EC_number="6.1.1.19"
                     /note="arginine tRNA ligase 1, cytoplasmic; arginyl-tRNA
                     synthetase, cytoplasmic"
                     /codon_start=1
                     /product="arginine--tRNA ligase, cytoplasmic"
                     /protein_id="NP_002878.2"
                     /db_xref="CCDS:CCDS4367.1"
                     /db_xref="GeneID:5917"
                     /db_xref="HGNC:HGNC:9870"
                     /db_xref="MIM:107820"
                     /translation="MDVLVSECSARLLQQEEEIKSLTAEIDRLKNCGCLGASPNLEQL
                     QEENLKLKYRLNILRKSLQAERNKPTKNMINIISRLQEVFGHAIKAAYPDLENPPLLV
                     TPSQQAKFGDYQCNSAMGISQMLKTKEQKVNPREIAENITKHLPDNECIEKVEIAGPG
                     FINVHLRKDFVSEQLTSLLVNGVQLPALGENKKVIVDFSSPNIAKEMHVGHLRSTIIG
                     ESISRLFEFAGYDVLRLNHVGDWGTQFGMLIAHLQDKFPDYLTVSPPIGDLQVFYKES
                     KKRFDTEEEFKKRAYQCVVLLQGKNPDITKAWKLICDVSRQELNKIYDALDVSLIERG
                     ESFYQDRMNDIVKEFEDRGFVQVDDGRKIVFVPGCSIPLTIVKSDGGYTYDTSDLAAI
                     KQRLFEEKADMIIYVVDNGQSVHFQTIFAAAQMIGWYDPKVTRVFHAGFGVVLGEDKK
                     KFKTRSGETVRLMDLLGEGLKRSMDKLKEKERDKVLTAEELNAAQTSVAYGCIKYADL
                     SHNRLNDYIFSFDKMLDDRGNTAAYLLYAFTRIRSIARLANIDEEMLQKAARETKILL
                     DHEKEWKLGRCILRFPEILQKILDDLFLHTLCDYIYELATAFTEFYDSCYCVEKDRQT
                     GKILKVNMWRMLLCEAVAAVMAKGFDILGIKPVQRM"
     exon            74..208
                     /gene="RARS1"
                     /gene_synonym="ArgRS; DALRD1; HLD9; RARS"
                     /inference="alignment:Splign:2.1.0"
     exon            209..397
                     /gene="RARS1"
                     /gene_synonym="ArgRS; DALRD1; HLD9; RARS"
                     /inference="alignment:Splign:2.1.0"
     exon            398..506
                     /gene="RARS1"
                     /gene_synonym="ArgRS; DALRD1; HLD9; RARS"
                     /inference="alignment:Splign:2.1.0"
     exon            507..607
                     /gene="RARS1"
                     /gene_synonym="ArgRS; DALRD1; HLD9; RARS"
                     /inference="alignment:Splign:2.1.0"
     exon            608..729
                     /gene="RARS1"
                     /gene_synonym="ArgRS; DALRD1; HLD9; RARS"
                     /inference="alignment:Splign:2.1.0"
     exon            730..850
                     /gene="RARS1"
                     /gene_synonym="ArgRS; DALRD1; HLD9; RARS"
                     /inference="alignment:Splign:2.1.0"
     exon            851..980
                     /gene="RARS1"
                     /gene_synonym="ArgRS; DALRD1; HLD9; RARS"
                     /inference="alignment:Splign:2.1.0"
     exon            981..1085
                     /gene="RARS1"
                     /gene_synonym="ArgRS; DALRD1; HLD9; RARS"
                     /inference="alignment:Splign:2.1.0"
     exon            1086..1264
                     /gene="RARS1"
                     /gene_synonym="ArgRS; DALRD1; HLD9; RARS"
                     /inference="alignment:Splign:2.1.0"
     exon            1265..1374
                     /gene="RARS1"
                     /gene_synonym="ArgRS; DALRD1; HLD9; RARS"
                     /inference="alignment:Splign:2.1.0"
     exon            1375..1480
                     /gene="RARS1"
                     /gene_synonym="ArgRS; DALRD1; HLD9; RARS"
                     /inference="alignment:Splign:2.1.0"
     exon            1481..1653
                     /gene="RARS1"
                     /gene_synonym="ArgRS; DALRD1; HLD9; RARS"
                     /inference="alignment:Splign:2.1.0"
     exon            1654..1901
                     /gene="RARS1"
                     /gene_synonym="ArgRS; DALRD1; HLD9; RARS"
                     /inference="alignment:Splign:2.1.0"
     exon            1902..2122
                     /gene="RARS1"
                     /gene_synonym="ArgRS; DALRD1; HLD9; RARS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1987..1992
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RARS1"
                     /gene_synonym="ArgRS; DALRD1; HLD9; RARS"
                     /note="hexamer: AATAAA"
     polyA_site      2016
                     /gene="RARS1"
                     /gene_synonym="ArgRS; DALRD1; HLD9; RARS"
     regulatory      2099..2104
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RARS1"
                     /gene_synonym="ArgRS; DALRD1; HLD9; RARS"
                     /note="hexamer: AGTAAA"
     polyA_site      2122
                     /gene="RARS1"
                     /gene_synonym="ArgRS; DALRD1; HLD9; RARS"
                     /note="major polyA site"
ORIGIN      
        1 acttggcgag tgagacgctg atgggaggat ggacgtactg gtgtctgagt gctccgcgcg
       61 gctgctgcag caggaagaag agattaaatc tctgactgct gaaattgacc ggttgaaaaa
      121 ctgtggctgt ttaggagctt ctccaaattt ggagcagtta caagaagaaa atttaaaatt
      181 aaagtatcga ctgaatattc ttcgaaagag tcttcaggca gaaaggaaca aaccaactaa
      241 aaatatgatt aacattatta gccgcctaca agaggtcttt ggtcatgcaa ttaaggctgc
      301 atatccagat ttggaaaatc ctcctctgct agtgacacca agtcagcagg ccaagtttgg
      361 ggactatcag tgtaatagtg ctatgggtat ttctcagatg ctcaaaacca aggaacagaa
      421 agttaatcca agagaaattg ctgaaaacat taccaaacac ctcccagaca atgaatgtat
      481 tgaaaaagtt gaaattgctg gtcctggttt tattaatgtc cacttaagaa aggattttgt
      541 atcagaacaa ttgaccagtc ttctagtgaa tggagttcaa ctacctgctc tgggagagaa
      601 taaaaaggtt atagttgact tttcctcccc taatatagct aaagagatgc atgtaggcca
      661 cctgaggtca actatcatag gagagagtat aagccgcctc tttgaatttg cagggtatga
      721 cgtgctcagg ttaaatcatg taggagactg ggggacccag tttggcatgc tcatcgctca
      781 cctgcaagac aaatttccag attatctaac agtttcacct cctattgggg atcttcaggt
      841 cttttataag gaatctaaga agaggtttga tactgaggag gaatttaaga agcgagcata
      901 tcagtgtgta gttctgctcc agggtaaaaa cccagatatt acaaaagctt ggaagcttat
      961 ctgtgatgtc tcccgccaag agttaaataa aatctatgat gcattggacg tctctttaat
     1021 agagagaggg gaatccttct atcaagatag gatgaatgat attgtaaagg aatttgaaga
     1081 tagaggattt gtgcaggtgg atgatggcag aaagattgta tttgtcccag ggtgttccat
     1141 accattaacc atagtaaaat cagatggagg ttatacctat gatacatctg acctggctgc
     1201 tattaaacaa agactatttg aggaaaaagc agatatgatt atctatgttg tggacaatgg
     1261 acaatctgtg cacttccaga caatatttgc tgctgctcaa atgattggtt ggtatgaccc
     1321 taaagtaact cgagtcttcc atgctggatt tggtgtggtg ctaggggaag acaagaaaaa
     1381 gtttaaaaca cgttcgggtg aaacagtgcg cctcatggat cttctgggag aaggactaaa
     1441 acgatccatg gacaagttga aggaaaaaga aagagacaag gtcttaactg cagaggaatt
     1501 gaatgctgct cagacatccg ttgcgtatgg ctgcatcaaa tatgctgacc tttcccataa
     1561 ccggttgaat gactacatct tctcctttga caaaatgcta gatgacagag gaaatacagc
     1621 tgcttacttg ttgtatgcct tcactagaat caggtctatt gcacgtctgg ccaatattga
     1681 tgaagaaatg ctccaaaaag ctgctcgaga aaccaagatt cttttggatc atgagaagga
     1741 atggaaacta ggccggtgca ttttacggtt ccctgagatt ctgcaaaaga ttttagatga
     1801 cttatttctc cacactctct gtgattatat atatgagctg gcaactgctt tcacagagtt
     1861 ctatgatagc tgctactgtg tggagaaaga tagacagact ggaaaaatat tgaaggtgaa
     1921 catgtggcgt atgctgctat gtgaagcagt agctgctgtc atggccaagg ggtttgatat
     1981 cctgggaata aaacctgtcc aaaggatgta atccttcata ggtttgaaca ctgtgtgttt
     2041 ttaccaaagt ggccattggc actgtttgct tttttacaat catgtggaca caagcataag
     2101 taaagaaaat ttgtcaacca gg
//
