LOCUS       NM_004074                494 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens cytochrome c oxidase subunit 8A (COX8A), mRNA; nuclear
            gene for mitochondrial product.
ACCESSION   NM_004074
VERSION     NM_004074.3
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 494)
  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 494)
  AUTHORS   Rotko,D., Kudin,A.P., Zsurka,G., Kulawiak,B., Szewczyk,A. and
            Kunz,W.S.
  TITLE     Molecular and Functional Effects of Loss of Cytochrome c Oxidase
            Subunit 8A
  JOURNAL   Biochemistry (Mosc) 86 (1), 33-43 (2021)
   PUBMED   33705280
  REMARK    GeneRIF: Molecular and Functional Effects of Loss of Cytochrome c
            Oxidase Subunit 8A.
REFERENCE   3  (bases 1 to 494)
  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 494)
  AUTHORS   Zong,S., Wu,M., Gu,J., Liu,T., Guo,R. and Yang,M.
  TITLE     Structure of the intact 14-subunit human cytochrome c oxidase
  JOURNAL   Cell Res 28 (10), 1026-1034 (2018)
   PUBMED   30030519
REFERENCE   5  (bases 1 to 494)
  AUTHORS   Hallmann,K., Kudin,A.P., Zsurka,G., Kornblum,C., Reimann,J.,
            Stuve,B., Waltz,S., Hattingen,E., Thiele,H., Nurnberg,P., Rub,C.,
            Voos,W., Kopatz,J., Neumann,H. and Kunz,W.S.
  TITLE     Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes
            Leigh-like syndrome and epilepsy
  JOURNAL   Brain 139 (Pt 2), 338-345 (2016)
   PUBMED   26685157
  REMARK    GeneRIF: COX8A is indispensable for function of human complex IV
            and its mutation causes Leigh-like syndrome and epilepsy.
REFERENCE   6  (bases 1 to 494)
  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 494)
  AUTHORS   Huttemann,M., Schmidt,T.R. and Grossman,L.I.
  TITLE     A third isoform of cytochrome c oxidase subunit VIII is present in
            mammals
  JOURNAL   Gene 312, 95-102 (2003)
   PUBMED   12909344
REFERENCE   8  (bases 1 to 494)
  AUTHORS   Chinnery,P.F., Taylor,R.W., Diekert,K., Lill,R., Turnbull,D.M. and
            Lightowlers,R.N.
  TITLE     Peptide nucleic acid delivery to human mitochondria
  JOURNAL   Gene Ther 6 (12), 1919-1928 (1999)
   PUBMED   10637443
  REMARK    Erratum:[Gene Ther 2000 May;7(9):813]
REFERENCE   9  (bases 1 to 494)
  AUTHORS   Rizzuto,R., Nakase,H., Darras,B., Francke,U., Fabrizi,G.M.,
            Mengel,T., Walsh,F., Kadenbach,B., DiMauro,S. and Schon,E.A.
  TITLE     A gene specifying subunit VIII of human cytochrome c oxidase is
            localized to chromosome 11 and is expressed in both muscle and
            non-muscle tissues
  JOURNAL   J Biol Chem 264 (18), 10595-10600 (1989)
   PUBMED   2543673
REFERENCE   10 (bases 1 to 494)
  AUTHORS   Van Kuilenburg,A.B., Muijsers,A.O., Demol,H., Dekker,H.L. and Van
            Beeumen,J.J.
  TITLE     Human heart cytochrome c oxidase subunit VIII. Purification and
            determination of the complete amino acid sequence
  JOURNAL   FEBS Lett 240 (1-2), 127-132 (1988)
   PUBMED   2847943
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC063025.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_004074.2.
            
            Summary: The protein encoded by this gene is the terminal enzyme of
            the respiratory chain, coupling the transfer of electrons from
            cytochrome c to molecular oxygen, with the concomitant production
            of a proton electrochemical gradient across the inner mitochondrial
            membrane. In addition to 3 mitochondrially encoded subunits, which
            perform the catalytic function, the eukaryotic enzyme contains
            nuclear-encoded smaller subunits, ranging in number from 4 in some
            organisms to 10 in mammals. It has been proposed that
            nuclear-encoded subunits may be involved in the modulation of the
            catalytic function. This gene encodes one of the nuclear-encoded
            subunits. [provided by RefSeq, Jul 2008].
            
            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 :: BP271537.1, BP271677.1 [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                 :: ENST00000314133.4/
                                                  ENSP00000321260.3
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-494               BC063025.1         14-507
FEATURES             Location/Qualifiers
     source          1..494
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     gene            1..494
                     /gene="COX8A"
                     /gene_synonym="COX; COX8; COX8-2; COX8L; MC4DN15; VIII;
                     VIII-L"
                     /note="cytochrome c oxidase subunit 8A"
                     /db_xref="GeneID:1351"
                     /db_xref="HGNC:HGNC:2294"
                     /db_xref="MIM:123870"
     exon            1..175
                     /gene="COX8A"
                     /gene_synonym="COX; COX8; COX8-2; COX8L; MC4DN15; VIII;
                     VIII-L"
                     /inference="alignment:Splign:2.1.0"
     CDS             62..271
                     /gene="COX8A"
                     /gene_synonym="COX; COX8; COX8-2; COX8L; MC4DN15; VIII;
                     VIII-L"
                     /EC_number="7.1.1.9"
                     /note="cytochrome c oxidase subunit VIII; cytochrome c
                     oxidase subunit 8A (ubiquitous); cytochrome c oxidase
                     subunit 8-2; cytochrome c oxidase polypeptide
                     VIII-liver/heart; cytochrome c oxidase subunit VIIIA
                     (ubiquitous)"
                     /codon_start=1
                     /product="cytochrome c oxidase subunit 8A, mitochondrial"
                     /protein_id="NP_004065.1"
                     /db_xref="CCDS:CCDS8054.1"
                     /db_xref="GeneID:1351"
                     /db_xref="HGNC:HGNC:2294"
                     /db_xref="MIM:123870"
                     /translation="MSVLTPLLLRGLTGSARRLPVPRAKIHSLPPEGKLGIMELAVGL
                     TSCFVTFLLPAGWILSHLETYRRPE"
     exon            176..494
                     /gene="COX8A"
                     /gene_synonym="COX; COX8; COX8-2; COX8L; MC4DN15; VIII;
                     VIII-L"
                     /inference="alignment:Splign:2.1.0"
     regulatory      473..478
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COX8A"
                     /gene_synonym="COX; COX8; COX8-2; COX8L; MC4DN15; VIII;
                     VIII-L"
                     /note="hexamer: AATAAA"
     polyA_site      494
                     /gene="COX8A"
                     /gene_synonym="COX; COX8; COX8-2; COX8L; MC4DN15; VIII;
                     VIII-L"
                     /note="major polyA site"
ORIGIN      
        1 attttggctt cctgaccttg ggctacggct gaccgttttt tgtggtgtac tccgtgccat
       61 catgtccgtc ctgacgccgc tgctgctgcg gggcttgaca ggctcggccc ggcggctccc
      121 agtgccgcgc gccaagatcc attcgttgcc gccggagggg aagcttggga tcatggaatt
      181 ggccgttggg cttacctcct gcttcgtgac cttcctcctg ccagcgggct ggatcctgtc
      241 acacctggag acctacagga ggccagagtg aaggggtccg ttctgtccct cacactgtga
      301 cctgaccagc cccaccggcc catcctggtc atgttactgc atttgtggcc ggcctcccct
      361 ggatcatgtc attcaattcc agtcacctct tctgcaatca tgacctcttg atgtctccat
      421 ggtgacctcc ttgggggtca ctgaccctgc ttggtggggt cccccttgta acaataaaat
      481 ctatttaaac ttta
//
