LOCUS       NM_004564               2369 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens glutamyl-tRNA amidotransferase subunit B (GATB),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_004564
VERSION     NM_004564.3
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 2369)
  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 2369)
  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 2369)
  AUTHORS   Friederich,M.W., Timal,S., Powell,C.A., Dallabona,C., Kurolap,A.,
            Palacios-Zambrano,S., Bratkovic,D., Derks,T.G.J., Bick,D.,
            Bouman,K., Chatfield,K.C., Damouny-Naoum,N., Dishop,M.K.,
            Falik-Zaccai,T.C., Fares,F., Fedida,A., Ferrero,I., Gallagher,R.C.,
            Garesse,R., Gilberti,M., Gonzalez,C., Gowan,K., Habib,C.,
            Halligan,R.K., Kalfon,L., Knight,K., Lefeber,D., Mamblona,L.,
            Mandel,H., Mory,A., Ottoson,J., Paperna,T., Pruijn,G.J.M.,
            Rebelo-Guiomar,P.F., Saada,A., Sainz,B. Jr., Salvemini,H.,
            Schoots,M.H., Smeitink,J.A., Szukszto,M.J., Ter Horst,H.J., van den
            Brandt,F., van Spronsen,F.J., Veltman,J.A., Wartchow,E.,
            Wintjes,L.T., Zohar,Y., Fernandez-Moreno,M.A., Baris,H.N.,
            Donnini,C., Minczuk,M., Rodenburg,R.J. and Van Hove,J.L.K.
  TITLE     Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits
            cause a lethal mitochondrial cardiomyopathy disorder
  JOURNAL   Nat Commun 9 (1), 4065 (2018)
   PUBMED   30283131
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2369)
  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 2369)
  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 2369)
  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 2369)
  AUTHORS   Petruzzella,V., Tiranti,V., Fernandez,P., Ianna,P., Carrozzo,R. and
            Zeviani,M.
  TITLE     Identification and characterization of human cDNAs specific to
            BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the
            formation and function of the mitochondrial respiratory chain
  JOURNAL   Genomics 54 (3), 494-504 (1998)
   PUBMED   9878253
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC130348.1 and AC092611.3.
            
            On Nov 23, 2018 this sequence version replaced NM_004564.2.
            
            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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC067838.1, SRR1803614.40659.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000263985.11/
                                                  ENSP00000263985.6
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1788              BC130348.1         27-1814
            1789-2369           AC092611.3         44264-44844         c
FEATURES             Location/Qualifiers
     source          1..2369
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q31.3"
     gene            1..2369
                     /gene="GATB"
                     /gene_synonym="COXPD41; HSPC199; PET112; PET112L"
                     /note="glutamyl-tRNA amidotransferase subunit B"
                     /db_xref="GeneID:5188"
                     /db_xref="HGNC:HGNC:8849"
                     /db_xref="MIM:603645"
     exon            1..201
                     /gene="GATB"
                     /gene_synonym="COXPD41; HSPC199; PET112; PET112L"
                     /inference="alignment:Splign:2.1.0"
     CDS             26..1699
                     /gene="GATB"
                     /gene_synonym="COXPD41; HSPC199; PET112; PET112L"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; cytochrome oxidase assembly factor PET112
                     homolog; cytochrome c oxidase assembly factor PET112
                     homolog; glutamyl-tRNA(Gln) amidotransferase, subunit B"
                     /codon_start=1
                     /product="glutamyl-tRNA(Gln) amidotransferase subunit B,
                     mitochondrial isoform 1 precursor"
                     /protein_id="NP_004555.1"
                     /db_xref="CCDS:CCDS3776.1"
                     /db_xref="GeneID:5188"
                     /db_xref="HGNC:HGNC:8849"
                     /db_xref="MIM:603645"
                     /translation="MAAPMLRWGCRGRRWAFARVDGGSCHRRGAPTGSTSNQIRGESS
                     VAQQPLHTAQKTRKGEHKWAAVVGLEIHAQISSNSKLFSGSQVRFSAPPNSLVSFFDA
                     SLPGTLPVLNRRCVEAAVMTGLALNCHINKKSLFDRKHYFYADLPAGYQITQQRLPIA
                     VNGSLIYGVCAGKKQSQVIPKTVRIKQIQLEQDSGKSLHDNLRSQTLIDLNRAGVGLL
                     EVVLEPDMSCGEEAATAVRELQLILQALGTSQANMAEGQLRVDANISVHHPGEPLGVR
                     TEVKNLNSIRFLAKAIDYEIQRQINELENGGEILNETRSFHHKLGCTMSMRDKEGKQD
                     YRFMPEPNLPPLVLYDATSLPAGADPQQVINIDQIRETLPELPSVTREKLVQQYGMLL
                     EHSFTLLNEVGLLEFFQNVIKETRAEPKKVTSWVLNTFLGYLKQQNLAVSESPVTPSA
                     LAELLDLLDSRTISSSAAKQVFEELWKREGKTPGQIVSEKQLELMQDQGALEQLCHSV
                     MEAHPQVVMDVKNRNPRAINKLIGLVRKATQSRADPVMIKEILEKKLSL"
     exon            202..352
                     /gene="GATB"
                     /gene_synonym="COXPD41; HSPC199; PET112; PET112L"
                     /inference="alignment:Splign:2.1.0"
     exon            353..466
                     /gene="GATB"
                     /gene_synonym="COXPD41; HSPC199; PET112; PET112L"
                     /inference="alignment:Splign:2.1.0"
     exon            467..665
                     /gene="GATB"
                     /gene_synonym="COXPD41; HSPC199; PET112; PET112L"
                     /inference="alignment:Splign:2.1.0"
     exon            666..788
                     /gene="GATB"
                     /gene_synonym="COXPD41; HSPC199; PET112; PET112L"
                     /inference="alignment:Splign:2.1.0"
     exon            789..902
                     /gene="GATB"
                     /gene_synonym="COXPD41; HSPC199; PET112; PET112L"
                     /inference="alignment:Splign:2.1.0"
     exon            903..987
                     /gene="GATB"
                     /gene_synonym="COXPD41; HSPC199; PET112; PET112L"
                     /inference="alignment:Splign:2.1.0"
     exon            988..1032
                     /gene="GATB"
                     /gene_synonym="COXPD41; HSPC199; PET112; PET112L"
                     /inference="alignment:Splign:2.1.0"
     exon            1033..1222
                     /gene="GATB"
                     /gene_synonym="COXPD41; HSPC199; PET112; PET112L"
                     /inference="alignment:Splign:2.1.0"
     exon            1223..1356
                     /gene="GATB"
                     /gene_synonym="COXPD41; HSPC199; PET112; PET112L"
                     /inference="alignment:Splign:2.1.0"
     exon            1357..1435
                     /gene="GATB"
                     /gene_synonym="COXPD41; HSPC199; PET112; PET112L"
                     /inference="alignment:Splign:2.1.0"
     exon            1436..1570
                     /gene="GATB"
                     /gene_synonym="COXPD41; HSPC199; PET112; PET112L"
                     /inference="alignment:Splign:2.1.0"
     exon            1571..2369
                     /gene="GATB"
                     /gene_synonym="COXPD41; HSPC199; PET112; PET112L"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1997..2002
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GATB"
                     /gene_synonym="COXPD41; HSPC199; PET112; PET112L"
                     /note="hexamer: AATAAA"
     polyA_site      2024
                     /gene="GATB"
                     /gene_synonym="COXPD41; HSPC199; PET112; PET112L"
                     /note="major polyA site"
     regulatory      2197..2202
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GATB"
                     /gene_synonym="COXPD41; HSPC199; PET112; PET112L"
                     /note="hexamer: AATAAA"
     polyA_site      2221
                     /gene="GATB"
                     /gene_synonym="COXPD41; HSPC199; PET112; PET112L"
     regulatory      2351..2356
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GATB"
                     /gene_synonym="COXPD41; HSPC199; PET112; PET112L"
                     /note="hexamer: AATAAA"
     polyA_site      2369
                     /gene="GATB"
                     /gene_synonym="COXPD41; HSPC199; PET112; PET112L"
ORIGIN      
        1 acctgaccaa gaccctggag ttacaatggc ggcgcccatg ctgcgctggg gctgccgtgg
       61 aagacgttgg gctttcgccc gggttgacgg tggttcttgc caccgaagag gggctccgac
      121 tgggtccaca tccaaccaga ttaggggaga gagctcagtg gctcagcagc ccctccacac
      181 ggcccagaag acgaggaaag gtgaacacaa atgggctgct gtggtaggtt tggaaattca
      241 tgcccagatt tcctccaact ctaaactctt ctctggatct caagttcgct tttcagcacc
      301 tccaaattct ttggtttctt tttttgatgc atctctacct ggaactttgc cggttctcaa
      361 caggaggtgt gtagaagcgg cggtgatgac aggcctggct ctgaactgcc acataaacaa
      421 gaagtccttg tttgacagga agcactactt ctatgcagac ctccctgcag gctaccaaat
      481 tacccagcag aggctcccaa ttgctgtgaa tgggagcttg atatatggcg tctgtgcagg
      541 gaagaagcag agtcaggtga tccccaagac ggtgaggatc aagcagatcc agttggagca
      601 agacagtggc aaaagcctcc acgacaacct gaggtctcag acgctcattg atttgaacag
      661 ggcaggagtg ggccttctgg aggtggtcct ggagcccgac atgtcctgtg gagaagaggc
      721 ggcaacagct gtcagggagc tgcagctgat ccttcaagcc ctggggacca gccaggcgaa
      781 catggcagag ggccagttga gagtggatgc caatatatcc gtgcatcacc ctggggagcc
      841 tttgggcgtt cgaacggaag tgaagaatct caacagcatc aggttcctgg ccaaagccat
      901 agactatgaa attcagaggc aaatcaatga acttgagaat ggaggtgaaa ttctgaacga
      961 aacacgctca tttcatcaca agctggggtg caccatgtca atgagagaca aagaaggaaa
     1021 acaggactac aggttcatgc cagaacccaa cctgcctccc ctggtgctct acgacgccac
     1081 atctctgccc gcaggtgcag acccacagca agtgatcaat attgaccaga ttcgggagac
     1141 actcccggag ctccccagtg tgacccgaga gaagcttgtc caacagtatg ggatgctgct
     1201 ggaacacagc ttcactttgc tgaacgaagt cggcctactg gagttcttcc aaaatgtgat
     1261 aaaagaaact agggcagagc caaaaaaggt gactagttgg gtcctcaaca cttttctggg
     1321 ctatttaaag caacagaacc tcgctgtcag tgagagtcct gtcacaccct ctgcactcgc
     1381 tgagcttctt gacctgctgg acagcagaac aatttcttca tcagcagcta aacaggtgtt
     1441 tgaggaactg tggaagaggg aaggcaagac tccagggcag attgtttcag aaaagcagct
     1501 tgaactgatg caggaccagg gggcactgga gcagctctgc cactctgtga tggaggccca
     1561 tcctcaagtg gtaatggatg tgaagaacag aaaccccaga gctataaata aactgattgg
     1621 gttggtccgg aaagcgactc aaagccgagc agatccagtc atgataaagg agatcctgga
     1681 gaagaagctg tcattgtgag atgtttggga tccccttgcc caagggacaa caacaaacag
     1741 tgcagcctga ctgggaacag gatcctgtga aagctgatgc ccatgtgccc tgagagctgc
     1801 ctctcaatcc ctgtcccaag ccacagctat ggcattaatg tcaccagtgt tctcaccctc
     1861 taggccctgt gcctggaggt gcctccacag ccgaccagca gccaccccgc ctgcttcatc
     1921 cacatcagga gggtccggtg aggctgcagc agtggttaag gagtaacacc ttcttgtatt
     1981 aaggaatttt aaactaaata aaatgtatgt tggagatact gttacccatt ctaagaaaac
     2041 ttttcattct gcagttcctt caacaaatat ttttgagcaa ctcctaaggg ccagccattg
     2101 taggtgatgg gcattagcag tggtcaagag agactgtaat ttggatgtat tgttttcaga
     2161 cctaaacaca ggttaacaaa gatgaaaata caaccaaata aactggcaca gtataaacac
     2221 atttgtttgt ttaaggaggt ctcaagaggg tggggaagga ggatattatt agaattaatc
     2281 aacctatcga ctgagtagaa gtgatattgc ctgttaaact ccctccccat cccagaaggc
     2341 acagtctgag aataaatgaa ttaaaaaaa
//
