LOCUS       NM_005051               2449 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens glutaminyl-tRNA synthetase 1 (QARS1), transcript
            variant 1, mRNA.
ACCESSION   NM_005051
VERSION     NM_005051.3
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 2449)
  AUTHORS   Shen,Y.W., Weng,Z.F., He,W., Chen,Y.H., Wang,Q.H., Zou,L.P.,
            Liu,L.Y. and Shang-Guan,H.K.
  TITLE     [QARS1 gene related glutaminyl-tRNA synthetase deficiency syndrome:
            report of three cases and a review of literature]
  JOURNAL   Zhonghua Er Ke Za Zhi 58 (12), 1006-1012 (2020)
   PUBMED   33256324
  REMARK    GeneRIF: [QARS1 gene related glutaminyl-tRNA synthetase deficiency
            syndrome: report of three cases and a review of literature].
            Review article
REFERENCE   2  (bases 1 to 2449)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 2449)
  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 2449)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2449)
  AUTHORS   Leshinsky-Silver,E., Ling,J., Wu,J., Vinkler,C., Yosovich,K.,
            Bahar,S., Yanoov-Sharav,M., Lerman-Sagie,T. and Lev,D.
  TITLE     Severe growth deficiency, microcephaly, intellectual disability,
            and characteristic facial features are due to a homozygous QARS
            mutation
  JOURNAL   Neurogenetics 18 (3), 141-146 (2017)
   PUBMED   28620870
  REMARK    GeneRIF: patient's fibroblasts demonstrated markedly reduced QARS
            amino acylation activity in vitro
REFERENCE   6  (bases 1 to 2449)
  AUTHORS   Bienvenut,W.V., Sumpton,D., Martinez,A., Lilla,S., Espagne,C.,
            Meinnel,T. and Giglione,C.
  TITLE     Comparative large scale characterization of plant versus mammal
            proteins reveals similar and idiosyncratic N-alpha-acetylation
            features
  JOURNAL   Mol Cell Proteomics 11 (6), M111.015131 (2012)
   PUBMED   22223895
REFERENCE   7  (bases 1 to 2449)
  AUTHORS   Lamour,V., Quevillon,S., Diriong,S., N'Guyen,V.C., Lipinski,M. and
            Mirande,M.
  TITLE     Evolution of the Glx-tRNA synthetase family: the glutaminyl enzyme
            as a case of horizontal gene transfer
  JOURNAL   Proc Natl Acad Sci U S A 91 (18), 8670-8674 (1994)
   PUBMED   8078941
REFERENCE   8  (bases 1 to 2449)
  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   9  (bases 1 to 2449)
  AUTHORS   Kaiser,E., Hu,B., Becher,S., Eberhard,D., Schray,B., Baack,M.,
            Hameister,H. and Knippers,R.
  TITLE     The human EPRS locus (formerly the QARS locus): a gene encoding a
            class I and a class II aminoacyl-tRNA synthetase
  JOURNAL   Genomics 19 (2), 280-290 (1994)
   PUBMED   8188258
REFERENCE   10 (bases 1 to 2449)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM560535.1 and BC000394.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_005051.2.
            
            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. In metazoans, 9 aminoacyl-tRNA
            synthetases specific for glutamine (gln), glutamic acid (glu), and
            7 other amino acids are associated within a multienzyme complex.
            Although present in eukaryotes, glutaminyl-tRNA synthetase (QARS)
            is absent from many prokaryotes, mitochondria, and chloroplasts, in
            which Gln-tRNA(Gln) is formed by transamidation of the misacylated
            Glu-tRNA(Gln). Glutaminyl-tRNA synthetase belongs to the class-I
            aminoacyl-tRNA synthetase family. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Jan 2013].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            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 :: AK290523.1, SRR3476690.769775.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: experimental evidence
                                                (PMID:22223895)
            MANE Ensembl match               :: ENST00000306125.12/
                                                ENSP00000307567.6
            RefSeq Select criteria           :: based on conservation,
                                                expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-19                BM560535.1         391-409
            20-2449             BC000394.2         1-2430
FEATURES             Location/Qualifiers
     source          1..2449
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..2449
                     /gene="QARS1"
                     /gene_synonym="GLNRS; MSCCA; PRO2195; QARS"
                     /note="glutaminyl-tRNA synthetase 1"
                     /db_xref="GeneID:5859"
                     /db_xref="HGNC:HGNC:9751"
                     /db_xref="MIM:603727"
     exon            1..141
                     /gene="QARS1"
                     /gene_synonym="GLNRS; MSCCA; PRO2195; QARS"
                     /inference="alignment:Splign:2.1.0"
     CDS             25..2352
                     /gene="QARS1"
                     /gene_synonym="GLNRS; MSCCA; PRO2195; QARS"
                     /EC_number="6.1.1.18"
                     /note="isoform a is encoded by transcript variant 1;
                     glutamine-tRNA synthetase; glutamine--tRNA ligase"
                     /codon_start=1
                     /product="glutamine--tRNA ligase isoform a"
                     /protein_id="NP_005042.1"
                     /db_xref="CCDS:CCDS2788.1"
                     /db_xref="GeneID:5859"
                     /db_xref="HGNC:HGNC:9751"
                     /db_xref="MIM:603727"
                     /translation="MAALDSLSLFTSLGLSEQKARETLKNSALSAQLREAATQAQQTL
                     GSTIDKATGILLYGLASRLRDTRRLSFLVSYIASKKIHTEPQLSAALEYVRSHPLDPI
                     DTVDFERECGVGVIVTPEQIEEAVEAAINRHRPQLLVERYHFNMGLLMGEARAVLKWA
                     DGKMIKNEVDMQVLHLLGPKLEADLEKKFKVAKARLEETDRRTAKDVVENGETADQTL
                     SLMEQLRGEALKFHKPGENYKTPGYVVTPHTMNLLKQHLEITGGQVRTRFPPEPNGIL
                     HIGHAKAINFNFGYAKANNGICFLRFDDTNPEKEEAKFFTAICDMVAWLGYTPYKVTY
                     ASDYFDQLYAWAVELIRRGLAYVCHQRGEELKGHNTLPSPWRDRPMEESLLLFEAMRK
                     GKFSEGEATLRMKLVMEDGKMDPVAYRVKYTPHHRTGDKWCIYPTYDYTHCLCDSIEH
                     ITHSLCTKEFQARRSSYFWLCNALDVYCPVQWEYGRLNLHYAVVSKRKILQLVATGAV
                     RDWDDPRLFTLTALRRRGFPPEAINNFCARVGVTVAQTTMEPHLLEACVRDVLNDTAP
                     RAMAVLESLRVIITNFPAAKSLDIQVPNFPADETKGFHQVPFAPIVFIERTDFKEEPE
                     PGFKRLAWGQPVGLRHTGYVIELQHVVKGPSGCVESLEVTCRRADAGEKPKAFIHWVS
                     QPLMCEVRLYERLFQHKNPEDPTEVPGGFLSDLNLASLHVVDAALVDCSVALAKPFDK
                     FQFERLGYFSVDPDSHQGKLVFNRTVTLKEDPGKV"
     exon            142..289
                     /gene="QARS1"
                     /gene_synonym="GLNRS; MSCCA; PRO2195; QARS"
                     /inference="alignment:Splign:2.1.0"
     exon            290..399
                     /gene="QARS1"
                     /gene_synonym="GLNRS; MSCCA; PRO2195; QARS"
                     /inference="alignment:Splign:2.1.0"
     exon            400..475
                     /gene="QARS1"
                     /gene_synonym="GLNRS; MSCCA; PRO2195; QARS"
                     /inference="alignment:Splign:2.1.0"
     exon            476..540
                     /gene="QARS1"
                     /gene_synonym="GLNRS; MSCCA; PRO2195; QARS"
                     /inference="alignment:Splign:2.1.0"
     exon            541..594
                     /gene="QARS1"
                     /gene_synonym="GLNRS; MSCCA; PRO2195; QARS"
                     /inference="alignment:Splign:2.1.0"
     exon            595..655
                     /gene="QARS1"
                     /gene_synonym="GLNRS; MSCCA; PRO2195; QARS"
                     /inference="alignment:Splign:2.1.0"
     exon            656..727
                     /gene="QARS1"
                     /gene_synonym="GLNRS; MSCCA; PRO2195; QARS"
                     /inference="alignment:Splign:2.1.0"
     exon            728..813
                     /gene="QARS1"
                     /gene_synonym="GLNRS; MSCCA; PRO2195; QARS"
                     /inference="alignment:Splign:2.1.0"
     exon            814..900
                     /gene="QARS1"
                     /gene_synonym="GLNRS; MSCCA; PRO2195; QARS"
                     /inference="alignment:Splign:2.1.0"
     exon            901..1000
                     /gene="QARS1"
                     /gene_synonym="GLNRS; MSCCA; PRO2195; QARS"
                     /inference="alignment:Splign:2.1.0"
     exon            1001..1079
                     /gene="QARS1"
                     /gene_synonym="GLNRS; MSCCA; PRO2195; QARS"
                     /inference="alignment:Splign:2.1.0"
     exon            1080..1188
                     /gene="QARS1"
                     /gene_synonym="GLNRS; MSCCA; PRO2195; QARS"
                     /inference="alignment:Splign:2.1.0"
     exon            1189..1319
                     /gene="QARS1"
                     /gene_synonym="GLNRS; MSCCA; PRO2195; QARS"
                     /inference="alignment:Splign:2.1.0"
     exon            1320..1412
                     /gene="QARS1"
                     /gene_synonym="GLNRS; MSCCA; PRO2195; QARS"
                     /inference="alignment:Splign:2.1.0"
     exon            1413..1550
                     /gene="QARS1"
                     /gene_synonym="GLNRS; MSCCA; PRO2195; QARS"
                     /inference="alignment:Splign:2.1.0"
     exon            1551..1638
                     /gene="QARS1"
                     /gene_synonym="GLNRS; MSCCA; PRO2195; QARS"
                     /inference="alignment:Splign:2.1.0"
     exon            1639..1782
                     /gene="QARS1"
                     /gene_synonym="GLNRS; MSCCA; PRO2195; QARS"
                     /inference="alignment:Splign:2.1.0"
     exon            1783..1887
                     /gene="QARS1"
                     /gene_synonym="GLNRS; MSCCA; PRO2195; QARS"
                     /inference="alignment:Splign:2.1.0"
     exon            1888..1980
                     /gene="QARS1"
                     /gene_synonym="GLNRS; MSCCA; PRO2195; QARS"
                     /inference="alignment:Splign:2.1.0"
     exon            1981..2108
                     /gene="QARS1"
                     /gene_synonym="GLNRS; MSCCA; PRO2195; QARS"
                     /inference="alignment:Splign:2.1.0"
     exon            2109..2175
                     /gene="QARS1"
                     /gene_synonym="GLNRS; MSCCA; PRO2195; QARS"
                     /inference="alignment:Splign:2.1.0"
     exon            2176..2301
                     /gene="QARS1"
                     /gene_synonym="GLNRS; MSCCA; PRO2195; QARS"
                     /inference="alignment:Splign:2.1.0"
     exon            2302..2449
                     /gene="QARS1"
                     /gene_synonym="GLNRS; MSCCA; PRO2195; QARS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2423..2428
                     /regulatory_class="polyA_signal_sequence"
                     /gene="QARS1"
                     /gene_synonym="GLNRS; MSCCA; PRO2195; QARS"
                     /note="hexamer: AATAAA"
     polyA_site      2449
                     /gene="QARS1"
                     /gene_synonym="GLNRS; MSCCA; PRO2195; QARS"
                     /note="major polyA site"
ORIGIN      
        1 cttttagttt ccggtgtctc tgcaatggcg gctctagact ccctgtcgct cttcactagc
       61 ctcggcctga gcgagcagaa ggcccgcgag acgctcaaga actcggctct gagcgcgcag
      121 ctgcgcgagg ccgctactca ggctcagcag accctgggtt ccaccattga caaagctacc
      181 gggatcctgt tatatggctt ggcctcccga ctcagggata cccggcgtct ctccttcctt
      241 gtaagctaca tagccagtaa gaagatccac actgagcccc agctaagcgc tgcccttgag
      301 tatgtgcgga gtcacccctt ggaccccatc gacactgtgg acttcgagcg ggaatgtggc
      361 gtgggtgtca ttgtgacccc agagcagatt gaggaggctg tggaggctgc tattaacagg
      421 caccggcccc agctcctggt ggaacgttac catttcaaca tggggctgct gatgggagag
      481 gctcgggctg tgctgaagtg ggcagatggc aaaatgatca agaatgaagt ggacatgcag
      541 gtcctccacc ttctgggccc caagttggag gctgatctgg agaagaagtt caaggtggca
      601 aaagctcggc tagaagaaac agaccggagg acggcaaagg atgtggtgga gaatggcgag
      661 actgctgacc agaccctgtc tctgatggag cagctccggg gggaggccct taagttccac
      721 aagcctggtg agaactacaa gaccccaggc tatgtggtca ctccacacac catgaatcta
      781 ctaaagcagc acctggagat tactggtggg caggtacgta cccggttccc gccagaaccc
      841 aatggaatcc tgcatattgg acatgccaaa gccatcaatt tcaactttgg ctatgccaag
      901 gccaacaatg gcatctgttt tctgcgtttt gatgacacca accctgagaa ggaggaagca
      961 aagttcttca cggccatctg tgacatggta gcctggctag gctacacacc ttacaaagtc
     1021 acatatgcgt ctgactattt tgaccagcta tatgcgtggg ctgtggagct catccgcagg
     1081 ggtctggctt atgtgtgcca ccagcgagga gaggagctca aaggccataa tactctgcct
     1141 tcaccctgga gagaccgtcc catggaggag tcactgctgc tctttgaggc aatgcgcaag
     1201 ggcaagtttt cagagggcga ggccacacta cggatgaagc tggtgatgga ggatggcaag
     1261 atggaccctg tagcctatcg agtcaagtat acaccacacc accgcacagg ggacaaatgg
     1321 tgcatctatc ccacctacga ctacacacac tgcctctgtg actccatcga gcacatcact
     1381 cactcactct gcaccaagga attccaggcc cgacgctctt cctacttctg gctttgcaat
     1441 gcactggacg tctattgccc tgtgcagtgg gagtatggcc gcctcaacct gcactatgct
     1501 gttgtctcta agaggaagat cctccagctt gtagcaactg gtgctgtgcg ggactgggat
     1561 gacccacggc tctttacact cacggccctg cgacggcggg gcttcccacc tgaggccatc
     1621 aacaacttct gtgcccgggt gggagtgact gtggcacaaa ccacaatgga gccacatctt
     1681 ctagaagcct gtgtgcgtga tgtgctgaat gacacagccc cacgagccat ggctgtgctg
     1741 gagtcactac gggtcatcat caccaacttt cctgctgcca agtccttgga catccaggtg
     1801 cccaacttcc cagctgatga gaccaaaggc ttccatcagg ttccctttgc acccattgtc
     1861 ttcattgaga ggactgactt caaggaggag ccagagccag gatttaagcg cctggcttgg
     1921 ggccagcctg tgggcctgag gcatacaggc tacgtcattg agctgcagca tgttgtcaag
     1981 ggccccagtg gttgtgtaga gagtctggag gtgacctgca gacgggcaga tgctggagag
     2041 aagccaaagg cctttattca ctgggtgtca cagcctttga tgtgtgaggt tcgcctctat
     2101 gagcgactat tccagcacaa gaaccctgaa gatcctactg aggtgcctgg tggattttta
     2161 agtgacctga acctggcatc actacacgtg gtggatgcag cattagtgga ctgctctgtg
     2221 gccctggcaa aacccttcga caagttccag tttgagcgtc ttggatattt ctccgtggat
     2281 ccagacagcc atcagggaaa gcttgtcttt aaccgaactg tcacactgaa ggaagaccca
     2341 ggaaaggtgt gagctggaag cactgaacct acctcatcct cctggagggt gtggctaccc
     2401 tcgccacccc aaattccatg tcaataaaga acagctaaat tctcctaga
//
