LOCUS       NM_176818               4238 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens glutamyl-tRNA amidotransferase subunit C (GATC),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_176818 XM_495934
VERSION     NM_176818.3
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 4238)
  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 4238)
  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 4238)
  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 4238)
  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 4238)
  AUTHORS   Echevarria,L., Clemente,P., Hernandez-Sierra,R., Gallardo,M.E.,
            Fernandez-Moreno,M.A. and Garesse,R.
  TITLE     Glutamyl-tRNAGln amidotransferase is essential for mammalian
            mitochondrial translation in vivo
  JOURNAL   Biochem J 460 (1), 91-101 (2014)
   PUBMED   24579914
  REMARK    GeneRIF: The mitochondrial defective phenotype provoked by the
            absence of gatA in human cells is confirmed by means of a deficient
            ability to grow when galactose is used as a carbon source.
REFERENCE   6  (bases 1 to 4238)
  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   7  (bases 1 to 4238)
  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   8  (bases 1 to 4238)
  AUTHORS   Scherer,S.E., Muzny,D.M., Buhay,C.J., Chen,R., Cree,A., Ding,Y.,
            Dugan-Rocha,S., Gill,R., Gunaratne,P., Harris,R.A., Hawes,A.C.,
            Hernandez,J., Hodgson,A.V., Hume,J., Jackson,A., Khan,Z.M.,
            Kovar-Smith,C., Lewis,L.R., Lozado,R.J., Metzker,M.L.,
            Milosavljevic,A., Miner,G.R., Montgomery,K.T., Morgan,M.B.,
            Nazareth,L.V., Scott,G., Sodergren,E., Song,X.Z., Steffen,D.,
            Lovering,R.C., Wheeler,D.A., Worley,K.C., Yuan,Y., Zhang,Z.,
            Adams,C.Q., Ansari-Lari,M.A., Ayele,M., Brown,M.J., Chen,G.,
            Chen,Z., Clerc-Blankenburg,K.P., Davis,C., Delgado,O., Dinh,H.H.,
            Draper,H., Gonzalez-Garay,M.L., Havlak,P., Jackson,L.R.,
            Jacob,L.S., Kelly,S.H., Li,L., Li,Z., Liu,J., Liu,W., Lu,J.,
            Maheshwari,M., Nguyen,B.V., Okwuonu,G.O., Pasternak,S., Perez,L.M.,
            Plopper,F.J., Santibanez,J., Shen,H., Tabor,P.E., Verduzco,D.,
            Waldron,L., Wang,Q., Williams,G.A., Zhang,J., Zhou,J., Allen,C.C.,
            Amin,A.G., Anyalebechi,V., Bailey,M., Barbaria,J.A., Bimage,K.E.,
            Bryant,N.P., Burch,P.E., Burkett,C.E., Burrell,K.L., Calderon,E.,
            Cardenas,V., Carter,K., Casias,K., Cavazos,I., Cavazos,S.R.,
            Ceasar,H., Chacko,J., Chan,S.N., Chavez,D., Christopoulos,C.,
            Chu,J., Cockrell,R., Cox,C.D., Dang,M., Dathorne,S.R., David,R.,
            Davis,C.M., Davy-Carroll,L., Deshazo,D.R., Donlin,J.E., D'Souza,L.,
            Eaves,K.A., Simons,R., Emery-Cohen,A.J., Escotto,M., Flagg,N.,
            Forbes,L.D., Gabisi,A.M., Garza,M., Hamilton,C., Henderson,N.,
            Hernandez,O., Hines,S., Hogues,M.E., Huang,M., Idlebird,D.G.,
            Johnson,R., Jolivet,A., Jones,S., Kagan,R., King,L.M., Leal,B.,
            Lebow,H., Lee,S., LeVan,J.M., Lewis,L.C., London,P.,
            Lorensuhewa,L.M., Loulseged,H., Lovett,D.A., Lucier,A.,
            Lucier,R.L., Ma,J., Madu,R.C., Mapua,P., Martindale,A.D.,
            Martinez,E., Massey,E., Mawhiney,S., Meador,M.G., Mendez,S.,
            Mercado,C., Mercado,I.C., Merritt,C.E., Miner,Z.L., Minja,E.,
            Mitchell,T., Mohabbat,F., Mohabbat,K., Montgomery,B., Moore,N.,
            Morris,S., Munidasa,M., Ngo,R.N., Nguyen,N.B., Nickerson,E.,
            Nwaokelemeh,O.O., Nwokenkwo,S., Obregon,M., Oguh,M., Oragunye,N.,
            Oviedo,R.J., Parish,B.J., Parker,D.N., Parrish,J., Parks,K.L.,
            Paul,H.A., Payton,B.A., Perez,A., Perrin,W., Pickens,A.,
            Primus,E.L., Pu,L.L., Puazo,M., Quiles,M.M., Quiroz,J.B.,
            Rabata,D., Reeves,K., Ruiz,S.J., Shao,H., Sisson,I., Sonaike,T.,
            Sorelle,R.P., Sutton,A.E., Svatek,A.F., Svetz,L.A., Tamerisa,K.S.,
            Taylor,T.R., Teague,B., Thomas,N., Thorn,R.D., Trejos,Z.Y.,
            Trevino,B.K., Ukegbu,O.N., Urban,J.B., Vasquez,L.I., Vera,V.A.,
            Villasana,D.M., Wang,L., Ward-Moore,S., Warren,J.T., Wei,X.,
            White,F., Williamson,A.L., Wleczyk,R., Wooden,H.S., Wooden,S.H.,
            Yen,J., Yoon,L., Yoon,V., Zorrilla,S.E., Nelson,D.,
            Kucherlapati,R., Weinstock,G. and Gibbs,R.A.
  CONSRTM   Baylor College of Medicine Human Genome Sequencing Center Sequence
            Production Team
  TITLE     The finished DNA sequence of human chromosome 12
  JOURNAL   Nature 440 (7082), 346-351 (2006)
   PUBMED   16541075
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL021546.1 and BC107145.1.
            
            On Nov 22, 2018 this sequence version replaced NM_176818.2.
            
            Transcript Variant: This variant (1) represents the shorter
            transcript.
            
            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 :: AK094319.1, SRR1660809.103286.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000551765.6/ ENSP00000446872.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-37                AL021546.1         26238-26274
            38-448              BC107145.1         1-411
            449-4238            AL021546.1         39754-43543
FEATURES             Location/Qualifiers
     source          1..4238
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     gene            1..4238
                     /gene="GATC"
                     /gene_synonym="15E1.2; COXPD42"
                     /note="glutamyl-tRNA amidotransferase subunit C"
                     /db_xref="GeneID:283459"
                     /db_xref="HGNC:HGNC:25068"
                     /db_xref="MIM:617210"
     exon            1..118
                     /gene="GATC"
                     /gene_synonym="15E1.2; COXPD42"
                     /inference="alignment:Splign:2.1.0"
     CDS             38..448
                     /gene="GATC"
                     /gene_synonym="15E1.2; COXPD42"
                     /note="glu-AdT subunit C; glutamyl-tRNA(Gln)
                     amidotransferase, subunit C homolog"
                     /codon_start=1
                     /product="glutamyl-tRNA(Gln) amidotransferase subunit C,
                     mitochondrial"
                     /protein_id="NP_789788.1"
                     /db_xref="CCDS:CCDS31911.1"
                     /db_xref="GeneID:283459"
                     /db_xref="HGNC:HGNC:25068"
                     /db_xref="MIM:617210"
                     /translation="MWSRLVWLGLRAPLGGRQGFTSKADPQGSGRITAAVIEHLERLA
                     LVDFGSREAVARLEKAIAFADRLRAVDTDGVEPMESVLEDRCLYLRSDNVVEGNCADE
                     LLQNSHRVVEEYFVAPPGNISLPKLDEQEPFPHS"
     exon            119..291
                     /gene="GATC"
                     /gene_synonym="15E1.2; COXPD42"
                     /inference="alignment:Splign:2.1.0"
     exon            292..395
                     /gene="GATC"
                     /gene_synonym="15E1.2; COXPD42"
                     /inference="alignment:Splign:2.1.0"
     exon            396..4238
                     /gene="GATC"
                     /gene_synonym="15E1.2; COXPD42"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4216..4221
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GATC"
                     /gene_synonym="15E1.2; COXPD42"
                     /note="hexamer: AATAAA"
     polyA_site      4238
                     /gene="GATC"
                     /gene_synonym="15E1.2; COXPD42"
                     /note="major polyA site"
ORIGIN      
        1 acgcgcgggc gcactgcggg ggccaaggaa ggaagaaatg tggtcgcggt tggtgtggct
       61 gggccttcgg gcccctctgg gcgggcgcca gggcttcacc tccaaggcgg atcctcaggg
      121 cagtggccgg atcacggctg cggtgatcga gcacctggag cgtctagcgc ttgtggactt
      181 cggcagccgc gaggcagtgg cgcgactgga gaaagctatc gccttcgccg accggctacg
      241 cgccgtggac acagacgggg tggagcccat ggaatcggtc ctggaggaca gatgtctata
      301 cctgagatcc gacaatgtgg tagaaggcaa ctgtgctgat gaattactac aaaactccca
      361 tcgcgtcgtg gaggagtact ttgtggcccc cccaggtaat atctctttgc caaagctgga
      421 tgaacaagag ccattcccac acagctgagt agctcattct ggaaaggggg tactctgtga
      481 acatgtggaa gcataatgac agtatttttt tactgtgaat actaatgttc ctgctttttt
      541 cagtcccctg aaaaaatgga tgctcaagca tttcttaata acagattctt ctgaagacag
      601 aattgggaaa gatctggccc caacaaggca gtgagttcct gatgctaact gaggtgaaag
      661 aaaagcaaaa gtcagcttcc aaggaattca cttaacaggc ctgttcagta tggaagacat
      721 tatttatctg cctttaactc cccccaaagg accataccaa ctgcatgaaa gtgaactttt
      781 ctatctacgt aactggtaga cggagcatct tgatcactat gtgacaacct tggctgtcat
      841 ttttagttgc catttgcatt gatttgagca gccctatctt taccgaacat acctgaattt
      901 gttcctgggc tcccactttc ttcccagaag agggctaact tcctactaag gtctgaagag
      961 tgttgaaagt agactagagc ttgggaactc ctaacctaga actatctgcc atcccacaaa
     1021 gtgattatat gccaaaggga tactagtcat acctagtgtt tctctttctg aaaagagaac
     1081 ttatcctaaa attagccctg ggcctgggac aaaggagccc tctccgcccc caaaatgatt
     1141 attaaattga gatgagtcca ggataaaact cagataccaa ggataaatga aacttattta
     1201 gggataaaag tgggctgggc gcagtggctc actcctgtaa tcccagcact ttgggaggct
     1261 gagacgggcg gatcacaagg tcaggagatc aagaccatcc tggctaatgc ggtgaaacct
     1321 catctctact aaaaatacaa aaaattagct gggtgtgatg acaggtgcct gtagtcccag
     1381 ctactcggga ggctgaggca ggagaatggc gtgaacccgg gagacggagc ttgcagtaag
     1441 ccgagatcgc accactgcac tccagcctgg gcgacagagc aagtctcaaa aaaaaaaaaa
     1501 aagtgataga atcagagagt ttttcctcta accaaactgc caaagttggt tttggctaag
     1561 aatttcccaa taatatttat gctgctgctc atttttttag ttttctgaga caggggtctc
     1621 cctctgtcac ccaggctgga gtgcagtggt gacagatcac tgcagcctcc aactcctggg
     1681 ctcaagtgat cctcccacct cagcctccta agtaactggg actacatatg tgcatcacca
     1741 cgtccagtta attttttttt aagtagaggt gggggttttg ctatgttgcc tatctggtcg
     1801 tgaactcctg gcctcaaggg atcctctggc atgccttggc ctcccaaagg gctaggatca
     1861 caggcaaaag ccaccgtgtg tttatttttc ccattccctt cctttatctg caatgctttt
     1921 ttctttaagg cagcctaatt tacaagcttg gccttgaatt aaaagagaac ccagaacccg
     1981 ctcttggagt ttacgttctc aaaccaacat cagagcaact gtctatcccc atataaataa
     2041 agttatctac ccctgctcct aactgggtac aagttatgac tacaactcag tgatttttta
     2101 aattagtgtg cctatttggt gaaatctgtg aacttaatca aggacaacca cacatgtcaa
     2161 ttactaaaca tttaaaatat atttctaaac agaatgggcc gactcagtca cagtaactgt
     2221 tgatctccat agtagagcaa cccacaaaga cagaactgat ttttttccca taatcagggg
     2281 tgaaaaatat acaacttgtt tctgaaccaa aaccacaatt tctgcagttt aaaatgtttc
     2341 actgctaata tggccctggt agaaattatg tagttttttt tcttctttaa aaaaaaaaaa
     2401 ttaaaaaaat ttcctaagac actaaatcct caatctggaa tgtagattct gagcacaaag
     2461 cagctcagtt aacctaaaaa ataaagaaaa aattcccatc acctgtctca gtagggcctg
     2521 aaaggagaga agtagtgtgg ggaacccctg ctttggtatg gagagtcacg gccccttgac
     2581 ccagaccgag accgtgagta gccatagctg gtgcttctct caggataaac tcggatgtag
     2641 gaagtttcac cctgaaatgc aaacaaaaac aaaaagagta aaggggaaaa aaatcagagc
     2701 cagaagaata agcaaaccaa catctaacaa taatagttaa gtattgagca cttactgtgt
     2761 actctgtgcc tggcatgagg ctatctcatt aaaccttcat aacattatga ggtaggtact
     2821 cttactatcc catttcaaga atgaagaaaa ttaagactta agttatatca tttgcccaag
     2881 gtaacacaat aaatgccaat ttgacatgtt gatactcaat taactatgat aaacaatata
     2941 tctgaattac tgccattgac ccccctcaaa gctaagaact ggaaaggatc tcaggggtca
     3001 tatagtttaa tcccctgcca cctcatgtat gcatctttgg atgggcatct atggaaggag
     3061 ctagcctgta tttaatacct tccagatgtg aggacctgag ctagatgctt tagacgttat
     3121 cctcttgctc tagattcctg gcaagtcttg tgatggtgct attatgtgac cattttgccc
     3181 atgaaggaat cgaggtccca agagtagttc aggtaaggaa ttaataagca gcagaggagt
     3241 catgtccagg ctggcttgtc cccaggccct ctgccttcag ccaccattct cagaagatcc
     3301 aaagatgcca aggggaaaga agccggatgc tttttcacct taggtgaaag tcagtaattg
     3361 gagttaccct ttctgaggcc ctgctttgca gtataactga ggatcaggtg ctgttctgtt
     3421 tctgcttcaa attcaagtcc tagaggacag tctgaacaaa agcatcatta aaccagggaa
     3481 ggaccaacct ctaagccaaa aactaggcaa ttatatgaat cctcagaaaa agaaatgagc
     3541 ccagagacct gtgtccccaa acatccgtaa atctcatagt aaggcaggac aggataacca
     3601 gaaaaaaaca atgtccaact ggtctggttt ctggtctcaa tggtaccaaa gggatagtca
     3661 ccacctcaat caaactgaga tccaaaacag cagctgcttt cctacaagga aagacatcaa
     3721 gaactactga gtctgaaggg tgacataatc aaccacaaga aaatgttacg gtttagcctg
     3781 gcacagtggt gcatgcctgc agtcccaact actggagagg ctgaggtggg aggactgctt
     3841 gggcccagga gttcaaggtc agcctcggca atataatgag actgtctcta aaatcaaaaa
     3901 ttagagaaat ataaaaatta taaaattaaa aaagaaaatg tcatgatagc tcaggtttca
     3961 gagaggatgc tgcactactc tgggaaaaaa gtgaagtgac agctcagccc tgacagcagg
     4021 acctagaagg gctgagatga agaggctgac ctgtagagct cagcctggac ccacaggagg
     4081 ggtagttgag ttcacagagg gatactgcca tttaagctgg ttgtgaatgg ggtggtatga
     4141 agaccgactg cactagtatt ctctccaggt tacaaatacc atgaccaaac tgtgtaatgt
     4201 gatactaata tgcagaataa agcatattaa aaaacaaa
//
