LOCUS       NM_018292               4106 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens glutaminyl-tRNA amidotransferase subunit QRSL1
            (QRSL1), mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_018292
VERSION     NM_018292.5
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 4106)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   2  (bases 1 to 4106)
  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 4106)
  AUTHORS   Kamps,R., Szklarczyk,R., Theunissen,T.E., Hellebrekers,D.M.E.I.,
            Sallevelt,S.C.E.H., Boesten,I.B., de Koning,B., van den Bosch,B.J.,
            Salomons,G.S., Simas-Mendes,M., Verdijk,R., Schoonderwoerd,K., de
            Coo,I.F.M., Vanoevelen,J.M. and Smeets,H.J.M.
  TITLE     Genetic defects in mtDNA-encoded protein translation cause
            pediatric, mitochondrial cardiomyopathy with early-onset brain
            disease
  JOURNAL   Eur J Hum Genet 26 (4), 537-551 (2018)
   PUBMED   29440775
  REMARK    GeneRIF: Homozygous intronic variant (c.850-3A > G) in the QRSL1
            was identified in a child with cardiomyopathy with early-onset
            brain disease.
REFERENCE   4  (bases 1 to 4106)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (bases 1 to 4106)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4106)
  AUTHORS   Nagao,A., Suzuki,T., Katoh,T., Sakaguchi,Y. and Suzuki,T.
  TITLE     Biogenesis of glutaminyl-mt tRNAGln in human mitochondria
  JOURNAL   Proc Natl Acad Sci U S A 106 (38), 16209-16214 (2009)
   PUBMED   19805282
  REMARK    GeneRIF: Studies showed in vitro Gln-tRNA(Gln) formation catalyzed
            by the recombinant mtGluRS and hGatCAB.
REFERENCE   7  (bases 1 to 4106)
  AUTHORS   Vieira,A.R., McHenry,T.G., Daack-Hirsch,S., Murray,J.C. and
            Marazita,M.L.
  TITLE     Candidate gene/loci studies in cleft lip/palate and dental
            anomalies finds novel susceptibility genes for clefts
  JOURNAL   Genet Med 10 (9), 668-674 (2008)
   PUBMED   18978678
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA819470.1, BC014389.2 and AL390074.17.
            
            On Nov 23, 2018 this sequence version replaced NM_018292.4.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL136679.1, SRR1803613.278831.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000369046.8/
                                                  ENSP00000358042.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 DA819470.1         13-15
            4-2043              BC014389.2         1-2040
            2044-4106           AL390074.17        26961-29023         c
FEATURES             Location/Qualifiers
     source          1..4106
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q21"
     gene            1..4106
                     /gene="QRSL1"
                     /gene_synonym="COXPD40; GatA"
                     /note="glutaminyl-tRNA amidotransferase subunit QRSL1"
                     /db_xref="GeneID:55278"
                     /db_xref="HGNC:HGNC:21020"
                     /db_xref="MIM:617209"
     exon            1..128
                     /gene="QRSL1"
                     /gene_synonym="COXPD40; GatA"
                     /inference="alignment:Splign:2.1.0"
     CDS             105..1691
                     /gene="QRSL1"
                     /gene_synonym="COXPD40; GatA"
                     /EC_number="6.3.5.7"
                     /note="glutamyl-tRNA(Gln) amidotransferase subunit A
                     homolog; glutaminyl-tRNA synthase-like protein 1; glu-AdT
                     subunit A; glutamyl-tRNA(Gln) amidotransferase, subunit A;
                     QRSL1, glutaminyl-tRNA amidotransferase subunit A;
                     glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1"
                     /codon_start=1
                     /product="glutamyl-tRNA(Gln) amidotransferase subunit A,
                     mitochondrial"
                     /protein_id="NP_060762.3"
                     /db_xref="CCDS:CCDS5057.1"
                     /db_xref="GeneID:55278"
                     /db_xref="HGNC:HGNC:21020"
                     /db_xref="MIM:617209"
                     /translation="MLGRSLREVSAALKQGQITPTELCQKCLSLIKKTKFLNAYITVS
                     EEVALKQAEESEKRYKNGQSLGDLDGIPIAVKDNFSTSGIETTCASNMLKGYIPPYNA
                     TVVQKLLDQGALLMGKTNLDEFAMGSGSTDGVFGPVKNPWSYSKQYREKRKQNPHSEN
                     EDSDWLITGGSSGGSAAAVSAFTCYAALGSDTGGSTRNPAAHCGLVGFKPSYGLVSRH
                     GLIPLVNSMDVPGILTRCVDDAAIVLGALAGPDPRDSTTVHEPINKPFMLPSLADVSK
                     LCIGIPKEYLVPELSSEVQSLWSKAADLFESEGAKVIEVSLPHTSYSIVCYHVLCTSE
                     VASNMARFDGLQYGHRCDIDVSTEAMYAATRREGFNDVVRGRILSGNFFLLKENYENY
                     FVKAQKVRRLIANDFVNAFNSGVDVLLTPTTLSEAVPYLEFIKEDNRTRSAQDDIFTQ
                     AVNMAGLPAVSIPVALSNQGLPIGLQFIGRAFCDQQLLTVAKWFEKQVQFPVIQLQEL
                     MDDCSAVLENEKLASVSLKQ"
     exon            129..288
                     /gene="QRSL1"
                     /gene_synonym="COXPD40; GatA"
                     /inference="alignment:Splign:2.1.0"
     exon            289..387
                     /gene="QRSL1"
                     /gene_synonym="COXPD40; GatA"
                     /inference="alignment:Splign:2.1.0"
     exon            388..484
                     /gene="QRSL1"
                     /gene_synonym="COXPD40; GatA"
                     /inference="alignment:Splign:2.1.0"
     exon            485..661
                     /gene="QRSL1"
                     /gene_synonym="COXPD40; GatA"
                     /inference="alignment:Splign:2.1.0"
     exon            662..837
                     /gene="QRSL1"
                     /gene_synonym="COXPD40; GatA"
                     /inference="alignment:Splign:2.1.0"
     exon            838..953
                     /gene="QRSL1"
                     /gene_synonym="COXPD40; GatA"
                     /inference="alignment:Splign:2.1.0"
     exon            954..1146
                     /gene="QRSL1"
                     /gene_synonym="COXPD40; GatA"
                     /inference="alignment:Splign:2.1.0"
     exon            1147..1264
                     /gene="QRSL1"
                     /gene_synonym="COXPD40; GatA"
                     /inference="alignment:Splign:2.1.0"
     exon            1265..1470
                     /gene="QRSL1"
                     /gene_synonym="COXPD40; GatA"
                     /inference="alignment:Splign:2.1.0"
     exon            1471..4106
                     /gene="QRSL1"
                     /gene_synonym="COXPD40; GatA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2026..2031
                     /regulatory_class="polyA_signal_sequence"
                     /gene="QRSL1"
                     /gene_synonym="COXPD40; GatA"
                     /note="hexamer: AATAAA"
     polyA_site      2050
                     /gene="QRSL1"
                     /gene_synonym="COXPD40; GatA"
                     /note="major polyA site"
     regulatory      2153..2158
                     /regulatory_class="polyA_signal_sequence"
                     /gene="QRSL1"
                     /gene_synonym="COXPD40; GatA"
                     /note="hexamer: AATAAA"
     polyA_site      2175
                     /gene="QRSL1"
                     /gene_synonym="COXPD40; GatA"
     regulatory      3908..3913
                     /regulatory_class="polyA_signal_sequence"
                     /gene="QRSL1"
                     /gene_synonym="COXPD40; GatA"
                     /note="hexamer: ATTAAA"
     polyA_site      3925
                     /gene="QRSL1"
                     /gene_synonym="COXPD40; GatA"
     regulatory      4078..4083
                     /regulatory_class="polyA_signal_sequence"
                     /gene="QRSL1"
                     /gene_synonym="COXPD40; GatA"
                     /note="hexamer: ATTAAA"
     polyA_site      4106
                     /gene="QRSL1"
                     /gene_synonym="COXPD40; GatA"
ORIGIN      
        1 agtgacaatt aaagatggct gcgcccatgt aacatcacta gcgaccggtg acctcttttt
       61 cccccttgcc tggctcctgt ggtggcaggc tgggcacgag gaccatgctg ggccggagcc
      121 tccgagaagt ttctgcggca ctgaaacaag gccaaattac accaacagag ctctgtcaaa
      181 aatgtctctc tcttatcaag aagaccaagt ttctaaatgc ctacattact gtgtcagaag
      241 aggtggcctt aaaacaagct gaagaatcag aaaagagata taagaatgga cagtcacttg
      301 gggatttaga tggaattcct attgcagtaa aagacaattt cagcacttct ggcattgaga
      361 caacatgtgc atcaaatatg ctgaaaggtt atataccacc ttataatgct acagtagttc
      421 agaagttgtt ggatcaggga gctctactaa tgggaaaaac aaatttagat gagtttgcta
      481 tgggatctgg gagcacagat ggtgtatttg gaccagttaa aaacccctgg agttattcaa
      541 aacaatatag agaaaagagg aagcagaatc cccacagcga gaatgaagat tcagactggc
      601 tgataactgg aggaagctca ggtgggagtg cagctgctgt atcggcgttc acatgctacg
      661 cggctttagg atcagataca ggaggatcga ccagaaatcc tgctgcccac tgtgggcttg
      721 ttggtttcaa accaagctat ggcttagttt cccgtcatgg tctcattccc ctggtgaatt
      781 cgatggatgt gccaggaatc ttaaccagat gtgtggatga tgcagcaatt gtgttgggtg
      841 cactggccgg acctgacccc agggactcta ccacagtaca tgaacctatt aataaaccat
      901 tcatgcttcc cagtttggca gatgtgagca aactatgtat aggaattcca aaggaatatc
      961 ttgtaccgga attatcaagt gaagtacagt ctctttggtc caaagctgct gacctctttg
     1021 agtctgaggg ggccaaagta attgaagtat cccttcctca caccagttat tcaattgtct
     1081 gctaccatgt attgtgcaca tcagaagtgg catcgaatat ggcaagattt gatgggctac
     1141 aatatggtca cagatgtgac attgatgtgt ccactgaagc catgtatgct gcaaccagac
     1201 gagaagggtt taatgatgtg gtgagaggaa gaattctctc aggaaacttt ttcttattaa
     1261 aagaaaacta tgaaaattat tttgtcaaag cacagaaagt gagacgcctc attgctaatg
     1321 actttgtaaa tgcttttaac tctggagtag atgtcttgct aactcccacc accttgagtg
     1381 aggcagtacc atacttggag ttcatcaaag aggacaacag aacccgaagt gcccaggatg
     1441 atatttttac acaagctgta aatatggcag gattgccagc agtgagtatc cctgttgcac
     1501 tctcaaacca agggttgcca ataggactgc agtttattgg acgtgcgttt tgtgaccagc
     1561 agcttcttac agtagccaaa tggtttgaaa aacaagtaca gtttcctgtt attcaacttc
     1621 aagaactcat ggatgattgt tcagcagtcc ttgaaaatga aaagttagcc tctgtctctc
     1681 taaaacagta aacatatctt acaaattaaa atgactttta ggctgggtgc agtggctcac
     1741 acctgtaatc ccagcacttt gggaggccaa ggcgagcgga tcatgaggtc agaagatcta
     1801 gaacagcctg gtcaacatgg tgaaaccccg tctctactaa aaatacaaaa attagccagg
     1861 cttagtggcg ggcatctgta gtcccagcta ctcaggaggc tgaggcagga gaatcacttg
     1921 aaccctggag gtggaggttg cagtgagccg agatcatgcc actgcactgc actccagcct
     1981 gggtgacaaa gcaagactgt gtctcaaaat aaataaataa aataaaataa aatgacgtac
     2041 agagattcta tattctagag agtcaaatgg tcttgctcaa ttcttgtaat taggttcttg
     2101 ttaatacagt cattccatgg aattactttt taaaattcct gtgacaatta ataataaata
     2161 acgtgtcagc atttagtaag catccactaa gtgtacaata cttctacaat aacacaagat
     2221 acctgttcct caaagacaat gcattctgcc ataatgttca ttaaagagtt tacagtaaaa
     2281 ataagattag ggataaactt ctcaaaaatt gtacatctgt gtaactaaag cactaacaaa
     2341 aacatgaata gtccttctag aggtaacttg gatagcctag gcaggcaact tatcatgtgg
     2401 tgaaggccgc ctcaggggtt gttaaaaatg cacagaaaca attgagtgcg attattggct
     2461 tctgagcgct gagcagagca ggtggaagag gaactttgag cacaggagga aatgcaacca
     2521 gtcagggccc agaatcatgc aaatctcagg ggtatgcctc tctggggagg agctccactt
     2581 gcagggactc cttttatttc cctaagaaag agctgaaatg actgagaact ttcctttcct
     2641 ccttagagtt acaattttac ttctgctatt ccggagccca tgcctagaag ccagaacaac
     2701 tccatgttac actgagttca tgctcctatt tactgatcac aaatgagctc attaatgtca
     2761 tcgaaacatt tattgtaacc taacagacca tcacagattg gaaacttggt agatagcaga
     2821 gcatggtatt agtgaaaaag gttcaaaata cacaagtaac atacactctg aaaaacatgc
     2881 agataatttg ctgatgaagc agaagagggg atgcgcatgg caagaacttg ccttacccca
     2941 gattctctat atctcatggt ttccttttcc tcttgactgt ctttacgagt gttttttatt
     3001 tgggaccctc gagcccagag atattaatgg atatctgtat tcaatatttg acaaaatcta
     3061 atggaaacca tccatttact catgataagg cttcatcact ggatttctgt gtcttcacta
     3121 gaacaccatt gtcatctcat attgatcagg tattttaatc tagcacttac atattgttga
     3181 taaatgaaag ctgaattgtt acttaataaa ttcactttgt ttagtaaaaa aaaattgttt
     3241 tctaaatatg acgttcatga agagaaaata atgagtcaga atcatctgca gaaccactgg
     3301 aatgtttcat cgtcacctgt tagttttcat aaacagtttt ctgtcctctc tgagatcctc
     3361 ccgctcccaa atactcaacc tgattaactt cacataaaag tcttatgtgc caggcttagt
     3421 aatattccta tagattttga ctctgaatcc ctgaaagagg aagaaatcca tgagagaaaa
     3481 ttgcattact ttatagcaag aggaaaccgt tttaagtttt ttaattgctc agacaccaca
     3541 acatcctaga tggaggaaac cattttagtt gaaggagcaa atatgatgtc aaaagcaagt
     3601 aaataaacaa accgttgccc caatctgttt ttatgtaatg aatttaaaaa aaaagagaga
     3661 gagagagaga tgggctctcc ctgtgttgcc caggctagtc tcaaactcct gggctcaagt
     3721 gatctgcctc cctcagcctc ccaaagtgct gagattaaag acgtgagcca ccacacctgg
     3781 ccgaaataat aatattcaat attatatatt caatgatatt attcagtatt caatattatt
     3841 tcaaataata ttaaatctct tgttcctgta tctctacatg agctgcacta ataatttgaa
     3901 tctggaaatt aaaaagtgaa acatttaccg ttctcatata ctgataccca actaccatga
     3961 aatgatacct aatttgtttt tcttttctct tcatttttac tcttaatcta gtaggtctca
     4021 ttttgccaag tcactgtctg ggaatttaag tggcaaatac tttctttgtc tcagctaatt
     4081 aaactctaaa attattagca acagaa
//
