LOCUS       NM_004542                945 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens NADH:ubiquinone oxidoreductase subunit A3 (NDUFA3),
            mRNA.
ACCESSION   NM_004542
VERSION     NM_004542.4
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 945)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   2  (bases 1 to 945)
  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   3  (bases 1 to 945)
  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 945)
  AUTHORS   Signes,A. and Fernandez-Vizarra,E.
  TITLE     Assembly of mammalian oxidative phosphorylation complexes I-V and
            supercomplexes
  JOURNAL   Essays Biochem 62 (3), 255-270 (2018)
   PUBMED   30030361
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 945)
  AUTHORS   Guo,R., Zong,S., Wu,M., Gu,J. and Yang,M.
  TITLE     Architecture of Human Mitochondrial Respiratory Megacomplex
            I2III2IV2
  JOURNAL   Cell 170 (6), 1247-1257 (2017)
   PUBMED   28844695
REFERENCE   6  (bases 1 to 945)
  AUTHORS   Saito,A., Kawamoto,M. and Kamatani,N.
  TITLE     Association study between single-nucleotide polymorphisms in 199
            drug-related genes and commonly measured quantitative traits of 752
            healthy Japanese subjects
  JOURNAL   J Hum Genet 54 (6), 317-323 (2009)
   PUBMED   19343046
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 945)
  AUTHORS   Starr,J.M., Shiels,P.G., Harris,S.E., Pattie,A., Pearce,M.S.,
            Relton,C.L. and Deary,I.J.
  TITLE     Oxidative stress, telomere length and biomarkers of physical aging
            in a cohort aged 79 years from the 1932 Scottish Mental Survey
  JOURNAL   Mech Ageing Dev 129 (12), 745-751 (2008)
   PUBMED   18977241
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 945)
  AUTHORS   Harris,S.E., Fox,H., Wright,A.F., Hayward,C., Starr,J.M.,
            Whalley,L.J. and Deary,I.J.
  TITLE     A genetic association analysis of cognitive ability and cognitive
            ageing using 325 markers for 109 genes associated with oxidative
            stress or cognition
  JOURNAL   BMC Genet 8, 43 (2007)
   PUBMED   17601350
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   9  (bases 1 to 945)
  AUTHORS   Murray,J., Zhang,B., Taylor,S.W., Oglesbee,D., Fahy,E.,
            Marusich,M.F., Ghosh,S.S. and Capaldi,R.A.
  TITLE     The subunit composition of the human NADH dehydrogenase obtained by
            rapid one-step immunopurification
  JOURNAL   J Biol Chem 278 (16), 13619-13622 (2003)
   PUBMED   12611891
REFERENCE   10 (bases 1 to 945)
  AUTHORS   Loeffen,J.L., Triepels,R.H., van den Heuvel,L.P., Schuelke,M.,
            Buskens,C.A., Smeets,R.J., Trijbels,J.M. and Smeitink,J.A.
  TITLE     cDNA of eight nuclear encoded subunits of NADH:ubiquinone
            oxidoreductase: human complex I cDNA characterization completed
  JOURNAL   Biochem Biophys Res Commun 253 (2), 415-422 (1998)
   PUBMED   9878551
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC061644.1 and AC245052.3.
            
            On May 17, 2019 this sequence version replaced NM_004542.3.
            
            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 :: SRR1660809.315261.1, EL582436.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000485876.6/ ENSP00000418438.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-351               BC061644.1         4-354
            352-945             AC245052.3         35515-36108
FEATURES             Location/Qualifiers
     source          1..945
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     gene            1..945
                     /gene="NDUFA3"
                     /gene_synonym="B9; CI-B9"
                     /note="NADH:ubiquinone oxidoreductase subunit A3"
                     /db_xref="GeneID:4696"
                     /db_xref="HGNC:HGNC:7686"
                     /db_xref="MIM:603832"
     exon            1..34
                     /gene="NDUFA3"
                     /gene_synonym="B9; CI-B9"
                     /inference="alignment:Splign:2.1.0"
     CDS             25..279
                     /gene="NDUFA3"
                     /gene_synonym="B9; CI-B9"
                     /note="complex I B9 subunit; complex I-B9; NADH-ubiquinone
                     oxidoreductase B9 subunit; NADH dehydrogenase (ubiquinone)
                     1 alpha subcomplex, 3, 9kDa"
                     /codon_start=1
                     /product="NADH dehydrogenase [ubiquinone] 1 alpha
                     subcomplex subunit 3"
                     /protein_id="NP_004533.1"
                     /db_xref="CCDS:CCDS12877.1"
                     /db_xref="GeneID:4696"
                     /db_xref="HGNC:HGNC:7686"
                     /db_xref="MIM:603832"
                     /translation="MAARVGAFLKNAWDKEPVLVVSFVVGGLAVILPPLSPYFKYSVM
                     INKATPYNYPVPVRDDGNMPDVPSHPQDPQGPSLEWLKKL"
     exon            35..109
                     /gene="NDUFA3"
                     /gene_synonym="B9; CI-B9"
                     /inference="alignment:Splign:2.1.0"
     exon            110..187
                     /gene="NDUFA3"
                     /gene_synonym="B9; CI-B9"
                     /inference="alignment:Splign:2.1.0"
     exon            188..945
                     /gene="NDUFA3"
                     /gene_synonym="B9; CI-B9"
                     /inference="alignment:Splign:2.1.0"
     regulatory      319..324
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFA3"
                     /gene_synonym="B9; CI-B9"
                     /note="hexamer: AATAAA"
     polyA_site      338
                     /gene="NDUFA3"
                     /gene_synonym="B9; CI-B9"
                     /note="major polyA site"
ORIGIN      
        1 gctgtcgccg ccgcggagac aaagatggct gcgagagtcg gcgccttcct caagaatgcc
       61 tgggacaagg agccagtgct ggtcgtgtcc ttcgtcgtcg ggggcctcgc tgtaattctg
      121 cccccattga gcccctactt caagtactcc gtcatgatca acaaggccac gccctacaac
      181 tacccagtgc ccgtccgtga tgatgggaac atgcccgacg tgcccagcca cccccaggac
      241 cctcagggcc ccagcctgga gtggctgaag aaactgtgag cacctccact gacagaggcg
      301 gcccctccca cggctcccaa taaaaatgtg aaaaccaacc cccgaacgtg agcatgtgtg
      361 tgatcagagg tgggaacaag tagacggtgg ccggggtgag tgtggggtca gtttattggg
      421 catgcgtcag tcagaggctg ggctggccag ggtcgggtag ggcagcagtt tgtctggacc
      481 ccgagaaacc caactggaat ccagggcctc atctgcttca aagccaaagt cttcctcaac
      541 cttaatctgc aggagataag gaacaaggtg ttaacaggcc tgggaatcta gaaaatccca
      601 tcagcttcac catttttgtt ttcattttgt tttgcttttt aaagagacag ggtctcactc
      661 tgttgcccag gctggagtgc agtggtgcca tcatagttca ctgcagcctc tgcctcccag
      721 gctcaagtga tcctcccacc tcagcttccc aagtagctgg gactacaggc acttgccaac
      781 caagcctaac atgttttttc tttttggtag agatggggtc tcagtatgtt gctcaggcag
      841 gtctcagact cctggcctca agtgatcctc ccacctaggc ctcccaaagt gccgggatta
      901 caggcatgag ccactgcacc tggccagcct cacagttctt gtctg
//
