LOCUS       NM_004649               1584 bp    mRNA    linear   PRI 05-DEC-2024
DEFINITION  Homo sapiens glutamine amidotransferase class 1 domain containing 3
            (GATD3), transcript variant 1, mRNA; nuclear gene for mitochondrial
            product.
ACCESSION   NM_004649
VERSION     NM_004649.8
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 1584)
  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 1584)
  AUTHORS   Masuda,T., Wada,Y. and Kawamura,S.
  TITLE     ES1 is a mitochondrial enlarging factor contributing to form
            mega-mitochondria in zebrafish cones
  JOURNAL   Sci Rep 6, 22360 (2016)
   PUBMED   26926452
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1584)
  AUTHORS   Jostins,L., Ripke,S., Weersma,R.K., Duerr,R.H., McGovern,D.P.,
            Hui,K.Y., Lee,J.C., Schumm,L.P., Sharma,Y., Anderson,C.A.,
            Essers,J., Mitrovic,M., Ning,K., Cleynen,I., Theatre,E.,
            Spain,S.L., Raychaudhuri,S., Goyette,P., Wei,Z., Abraham,C.,
            Achkar,J.P., Ahmad,T., Amininejad,L., Ananthakrishnan,A.N.,
            Andersen,V., Andrews,J.M., Baidoo,L., Balschun,T., Bampton,P.A.,
            Bitton,A., Boucher,G., Brand,S., Buning,C., Cohain,A., Cichon,S.,
            D'Amato,M., De Jong,D., Devaney,K.L., Dubinsky,M., Edwards,C.,
            Ellinghaus,D., Ferguson,L.R., Franchimont,D., Fransen,K.,
            Gearry,R., Georges,M., Gieger,C., Glas,J., Haritunians,T., Hart,A.,
            Hawkey,C., Hedl,M., Hu,X., Karlsen,T.H., Kupcinskas,L.,
            Kugathasan,S., Latiano,A., Laukens,D., Lawrance,I.C., Lees,C.W.,
            Louis,E., Mahy,G., Mansfield,J., Morgan,A.R., Mowat,C., Newman,W.,
            Palmieri,O., Ponsioen,C.Y., Potocnik,U., Prescott,N.J.,
            Regueiro,M., Rotter,J.I., Russell,R.K., Sanderson,J.D., Sans,M.,
            Satsangi,J., Schreiber,S., Simms,L.A., Sventoraityte,J.,
            Targan,S.R., Taylor,K.D., Tremelling,M., Verspaget,H.W., De Vos,M.,
            Wijmenga,C., Wilson,D.C., Winkelmann,J., Xavier,R.J., Zeissig,S.,
            Zhang,B., Zhang,C.K., Zhao,H., Silverberg,M.S., Annese,V.,
            Hakonarson,H., Brant,S.R., Radford-Smith,G., Mathew,C.G.,
            Rioux,J.D., Schadt,E.E., Daly,M.J., Franke,A., Parkes,M.,
            Vermeire,S., Barrett,J.C. and Cho,J.H.
  CONSRTM   International IBD Genetics Consortium (IIBDGC)
  TITLE     Host-microbe interactions have shaped the genetic architecture of
            inflammatory bowel disease
  JOURNAL   Nature 491 (7422), 119-124 (2012)
   PUBMED   23128233
REFERENCE   4  (bases 1 to 1584)
  AUTHORS   Anderson,C.A., Boucher,G., Lees,C.W., Franke,A., D'Amato,M.,
            Taylor,K.D., Lee,J.C., Goyette,P., Imielinski,M., Latiano,A.,
            Lagace,C., Scott,R., Amininejad,L., Bumpstead,S., Baidoo,L.,
            Baldassano,R.N., Barclay,M., Bayless,T.M., Brand,S., Buning,C.,
            Colombel,J.F., Denson,L.A., De Vos,M., Dubinsky,M., Edwards,C.,
            Ellinghaus,D., Fehrmann,R.S., Floyd,J.A., Florin,T.,
            Franchimont,D., Franke,L., Georges,M., Glas,J., Glazer,N.L.,
            Guthery,S.L., Haritunians,T., Hayward,N.K., Hugot,J.P., Jobin,G.,
            Laukens,D., Lawrance,I., Lemann,M., Levine,A., Libioulle,C.,
            Louis,E., McGovern,D.P., Milla,M., Montgomery,G.W., Morley,K.I.,
            Mowat,C., Ng,A., Newman,W., Ophoff,R.A., Papi,L., Palmieri,O.,
            Peyrin-Biroulet,L., Panes,J., Phillips,A., Prescott,N.J.,
            Proctor,D.D., Roberts,R., Russell,R., Rutgeerts,P., Sanderson,J.,
            Sans,M., Schumm,P., Seibold,F., Sharma,Y., Simms,L.A.,
            Seielstad,M., Steinhart,A.H., Targan,S.R., van den Berg,L.H.,
            Vatn,M., Verspaget,H., Walters,T., Wijmenga,C., Wilson,D.C.,
            Westra,H.J., Xavier,R.J., Zhao,Z.Z., Ponsioen,C.Y., Andersen,V.,
            Torkvist,L., Gazouli,M., Anagnou,N.P., Karlsen,T.H., Kupcinskas,L.,
            Sventoraityte,J., Mansfield,J.C., Kugathasan,S., Silverberg,M.S.,
            Halfvarson,J., Rotter,J.I., Mathew,C.G., Griffiths,A.M., Gearry,R.,
            Ahmad,T., Brant,S.R., Chamaillard,M., Satsangi,J., Cho,J.H.,
            Schreiber,S., Daly,M.J., Barrett,J.C., Parkes,M., Annese,V.,
            Hakonarson,H., Radford-Smith,G., Duerr,R.H., Vermeire,S.,
            Weersma,R.K. and Rioux,J.D.
  TITLE     Meta-analysis identifies 29 additional ulcerative colitis risk
            loci, increasing the number of confirmed associations to 47
  JOURNAL   Nat Genet 43 (3), 246-252 (2011)
   PUBMED   21297633
  REMARK    Erratum:[Nat Genet. 2011 Sep;43(9):919]
REFERENCE   5  (bases 1 to 1584)
  AUTHORS   Ponamarev,M.V., She,Y.M., Zhang,L. and Robinson,B.H.
  TITLE     Proteomics of bovine mitochondrial RNA-binding proteins: HES1/KNP-I
            is a new mitochondrial resident protein
  JOURNAL   J Proteome Res 4 (1), 43-52 (2005)
   PUBMED   15707356
REFERENCE   6  (bases 1 to 1584)
  AUTHORS   Shin,J.H., Weitzdoerfer,R., Fountoulakis,M. and Lubec,G.
  TITLE     Expression of cystathionine beta-synthase, pyridoxal kinase, and
            ES1 protein homolog (mitochondrial precursor) in fetal Down
            syndrome brain
  JOURNAL   Neurochem Int 45 (1), 73-79 (2004)
   PUBMED   15082224
  REMARK    GeneRIF: ES1 protein expression was two-fold elevated (P < 0.01) in
            fetal Down syndrome brain compared to controls and may be a
            candidate protein involved in the pathogenesis of the brain deficit
            in DS.
REFERENCE   7  (bases 1 to 1584)
  AUTHORS   Scott,H.S., Chen,H., Rossier,C., Lalioti,M.D. and Antonarakis,S.E.
  TITLE     Isolation of a human gene (HES1) with homology to an Escherichia
            coli and a zebrafish protein that maps to chromosome 21q22.3
  JOURNAL   Hum Genet 99 (5), 616-623 (1997)
   PUBMED   9150728
REFERENCE   8  (bases 1 to 1584)
  AUTHORS   Lafreniere,R.G., Rochefort,D.L., Kibar,Z., Fon,E.A., Han,F.,
            Cochius,J., Kang,X., Baird,S., Korneluk,R.G., Andermann,E.,
            Rommens,J.M. and Rouleau,G.A.
  TITLE     Isolation and characterization of GT335, a novel human gene
            conserved in Escherichia coli and mapping to 21q22.3
  JOURNAL   Genomics 38 (3), 264-272 (1996)
   PUBMED   8975701
REFERENCE   9  (bases 1 to 1584)
  AUTHORS   Nagamine,K., Kudoh,J., Minoshima,S., Kawasaki,K., Asakawa,S.,
            Ito,F. and Shimizu,N.
  TITLE     Isolation of cDNA for a novel human protein KNP-I that is
            homologous to the E. coli SCRP-27A protein from the autoimmune
            polyglandular disease type I (APECED) region of chromosome 21q22.3
  JOURNAL   Biochem Biophys Res Commun 225 (2), 608-616 (1996)
   PUBMED   8753807
REFERENCE   10 (bases 1 to 1584)
  AUTHORS   Bardakjian,T., Weiss,A. and Schneider,A.
  TITLE     Microphthalmia/Anophthalmia/Coloboma Spectrum - RETIRED CHAPTER,
            FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301552
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB001517.1 and AP001055.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 30, 2018 this sequence version replaced NM_004649.7.
            
            Summary: This gene encodes a potential mitochondrial protein that
            is a member of the DJ-1/PfpI gene family. This protein is
            overexpressed in fetal Down syndrome brain. Alternate splicing
            results in multiple transcript variants. [provided by RefSeq, May
            2010].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: SRR1163658.434042.1, HM005650.1
                                           [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                 :: ENST00000291577.11/
                                                  ENSP00000291577.6
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-156               AB001517.1         32729-32884
            157-209             AB001517.1         33148-33200
            210-323             AB001517.1         35106-35219
            324-443             AB001517.1         36223-36342
            444-536             AP001055.1         2242-2334
            537-693             AP001055.1         5197-5353
            694-1584            AP001055.1         6813-7703
FEATURES             Location/Qualifiers
     source          1..1584
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     gene            1..1584
                     /gene="GATD3"
                     /gene_synonym="C21orf33; ES1; GATD3A; GATD3B; GT335; HES1;
                     KNPH; KNPI"
                     /note="glutamine amidotransferase class 1 domain
                     containing 3"
                     /db_xref="GeneID:8209"
                     /db_xref="HGNC:HGNC:1273"
                     /db_xref="MIM:601659"
     exon            1..156
                     /gene="GATD3"
                     /gene_synonym="C21orf33; ES1; GATD3A; GATD3B; GT335; HES1;
                     KNPH; KNPI"
                     /inference="alignment:Splign:2.1.0"
     CDS             16..822
                     /gene="GATD3"
                     /gene_synonym="C21orf33; ES1; GATD3A; GATD3B; GT335; HES1;
                     KNPH; KNPI"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; Keio novel protein I; human HES1 protein,
                     homolog to E.coli and zebrafish ES1 protein; ES1 protein
                     homolog, mitochondrial; Putative glutamine
                     amidotransferase-like class 1 domain-containing protein
                     3B, mitochondrial; Protein GT335; Protein HES1; glutamine
                     amidotransferase class 1 domain containing 3A; glutamine
                     amidotransferase like class 1 domain containing 3A; testis
                     secretory sperm-binding protein Li 237E; glutamine
                     amidotransferase-like class 1 domain-containing protein
                     3A, mitochondrial; glutamine amidotransferase-like class 1
                     domain-containing protein 3, mitochondrial"
                     /codon_start=1
                     /product="glutamine amidotransferase-like class 1
                     domain-containing protein 3, mitochondrial isoform 1
                     precursor"
                     /protein_id="NP_004640.4"
                     /db_xref="CCDS:CCDS33580.1"
                     /db_xref="GeneID:8209"
                     /db_xref="HGNC:HGNC:1273"
                     /db_xref="MIM:601659"
                     /translation="MAAVRVLVASRLAAASAFTSLSPGGRTPSQRAALHLSVPRPAAR
                     VALVLSGCGVYDGTEIHEASAILVHLSRGGAEVQIFAPDVPQMHVIDHTKGQPSEGES
                     RNVLTESARIARGKITDLANLSAANHDAAIFPGGFGAAKNLSTFAVDGKDCKVNKEVE
                     RVLKEFHQAGKPIGLCCIAPVLAAKVLRGVEVTVGHEQEEGGKWPYAGTAEAIKALGA
                     KHCVKEVVEAHVDQKNKVVTTPAFMCETALHYIHDGIGAMVRKVLELTGK"
     exon            157..209
                     /gene="GATD3"
                     /gene_synonym="C21orf33; ES1; GATD3A; GATD3B; GT335; HES1;
                     KNPH; KNPI"
                     /inference="alignment:Splign:2.1.0"
     exon            210..323
                     /gene="GATD3"
                     /gene_synonym="C21orf33; ES1; GATD3A; GATD3B; GT335; HES1;
                     KNPH; KNPI"
                     /inference="alignment:Splign:2.1.0"
     exon            324..443
                     /gene="GATD3"
                     /gene_synonym="C21orf33; ES1; GATD3A; GATD3B; GT335; HES1;
                     KNPH; KNPI"
                     /inference="alignment:Splign:2.1.0"
     exon            444..536
                     /gene="GATD3"
                     /gene_synonym="C21orf33; ES1; GATD3A; GATD3B; GT335; HES1;
                     KNPH; KNPI"
                     /inference="alignment:Splign:2.1.0"
     exon            537..693
                     /gene="GATD3"
                     /gene_synonym="C21orf33; ES1; GATD3A; GATD3B; GT335; HES1;
                     KNPH; KNPI"
                     /inference="alignment:Splign:2.1.0"
     exon            694..1584
                     /gene="GATD3"
                     /gene_synonym="C21orf33; ES1; GATD3A; GATD3B; GT335; HES1;
                     KNPH; KNPI"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1563..1568
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GATD3"
                     /gene_synonym="C21orf33; ES1; GATD3A; GATD3B; GT335; HES1;
                     KNPH; KNPI"
                     /note="hexamer: AATAAA"
     polyA_site      1584
                     /gene="GATD3"
                     /gene_synonym="C21orf33; ES1; GATD3A; GATD3B; GT335; HES1;
                     KNPH; KNPI"
                     /note="major polyA site"
ORIGIN      
        1 gctgtcctca ccgcaatggc ggctgtgagg gtcctggtgg cctcgaggct cgctgcggca
       61 tctgcattca cgtccctgtc ccccggcggt cggacgcctt cccagcgcgc agcccttcac
      121 ctctccgtgc cgcgccccgc ggccagggtc gcgctggtgc tgtctggatg cggagtctac
      181 gatgggaccg agatccacga ggcctcggcg atcctggtgc acctgagccg tggaggggct
      241 gaagtccaga tctttgctcc tgacgtccct cagatgcacg tgattgacca caccaagggg
      301 cagccgtccg aaggcgagag caggaatgtt ttgaccgagt ctgcgaggat cgcccgtggc
      361 aaaatcacag acctggccaa cctcagtgca gccaaccatg atgctgccat ctttccagga
      421 ggctttggag cggctaaaaa cctgagcacg tttgccgtgg acgggaaaga ttgcaaggtg
      481 aataaagaag tggagcgtgt cctgaaggag ttccaccagg ccgggaagcc catcggcttg
      541 tgctgcattg cacctgtcct cgcggccaag gtgctcagag gcgtcgaggt gactgtgggc
      601 cacgagcagg aggaaggtgg caagtggcct tatgccggga ccgcagaggc catcaaggcc
      661 ctgggtgcca agcactgcgt gaaggaagtg gtcgaagctc acgtggacca gaaaaacaag
      721 gtggtcacga ccccagcctt catgtgcgag acggcactcc actacatcca tgatgggatc
      781 ggagccatgg tgaggaaggt gctggaactc actggaaagt gacgcgcatg gacggggccc
      841 agctaggcgc caggacttgg cctcaccctc tggctgagga gctgtcggct gctttccatc
      901 cagctgggag tctggcaggc cctttttttt ttttctttgc cgaaacctgc aggcgttctc
      961 tctctaagga ggatgtgctg cagtgcatgg gggatgtttc ttcctgggtg tggctgggct
     1021 gctctcacat acagaggccg aggggccaat tcgttctctg ccacagggac ttgcctcact
     1081 gtgtcccaaa aacaaatcgc agccagcttt tccagaaata gaaaattctg ccgtctgagg
     1141 ttttatactt caggttagtt agtttttgga aggaagaaca tttttaggtt tgcaagcctc
     1201 ctgatcagga aaccagaaat accacattta tggaccatga aaggttggtt cttgactctg
     1261 aagggacttt tgagttaatc agcgtaaggg gatttctaaa gcaggcaatc cctgtagccg
     1321 cagagaataa acgccttccc aaaatggcaa cttcccacag ccacatttca gacctgctga
     1381 gactgctgag tgaggaatgg cagtgaggtt tcttcaatta gtctcagttc tcttaatttt
     1441 caggaagaaa gggaaattgc agcccctcag cccccaggat tgacctctgg ggagtgatgg
     1501 tagcgttggt gccaggccgt gggttcaggt gtggcagaag cttgcagatg cgtccgaagg
     1561 gaaataaagt gtgttggcgt taga
//
