LOCUS       NM_004373                537 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens cytochrome c oxidase subunit 6A1 (COX6A1), mRNA;
            nuclear gene for mitochondrial product.
ACCESSION   NM_004373
VERSION     NM_004373.4
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 537)
  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 537)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 537)
  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 537)
  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 537)
  AUTHORS   Boczonadi,V., Giunta,M., Lane,M., Tulinius,M., Schara,U. and
            Horvath,R.
  TITLE     Investigating the role of the physiological isoform switch of
            cytochrome c oxidase subunits in reversible mitochondrial disease
  JOURNAL   Int J Biochem Cell Biol 63, 32-40 (2015)
   PUBMED   25666558
  REMARK    GeneRIF: We demonstrate a developmental isoform switch of COX6A and
            COX7A subunits in human and mouse skeletal muscle
REFERENCE   6  (bases 1 to 537)
  AUTHORS   Schmidt,T.R., Jaradat,S.A., Goodman,M., Lomax,M.I. and
            Grossman,L.I.
  TITLE     Molecular evolution of cytochrome c oxidase: rate variation among
            subunit VIa isoforms
  JOURNAL   Mol Biol Evol 14 (6), 595-601 (1997)
   PUBMED   9190060
REFERENCE   7  (bases 1 to 537)
  AUTHORS   Taanman,J.W., Hall,R.E., Tang,C., Marusich,M.F., Kennaway,N.G. and
            Capaldi,R.A.
  TITLE     Tissue distribution of cytochrome c oxidase isoforms in mammals.
            Characterization with monoclonal and polyclonal antibodies
  JOURNAL   Biochim Biophys Acta 1225 (1), 95-100 (1993)
   PUBMED   8241294
REFERENCE   8  (bases 1 to 537)
  AUTHORS   Hochstrasser,D.F., Frutiger,S., Paquet,N., Bairoch,A., Ravier,F.,
            Pasquali,C., Sanchez,J.C., Tissot,J.D., Bjellqvist,B., Vargas,R. et
            al.
  TITLE     Human liver protein map: a reference database established by
            microsequencing and gel comparison
  JOURNAL   Electrophoresis 13 (12), 992-1001 (1992)
   PUBMED   1286669
REFERENCE   9  (bases 1 to 537)
  AUTHORS   Fabrizi,G.M., Sadlock,J., Hirano,M., Mita,S., Koga,Y., Rizzuto,R.,
            Zeviani,M. and Schon,E.A.
  TITLE     Differential expression of genes specifying two isoforms of subunit
            VIa of human cytochrome c oxidase
  JOURNAL   Gene 119 (2), 307-312 (1992)
   PUBMED   1327966
REFERENCE   10 (bases 1 to 537)
  AUTHORS   Fabrizi,G.M., Rizzuto,R., Nakase,H., Mita,S., Kadenbach,B. and
            Schon,E.A.
  TITLE     Sequence of a cDNA specifying subunit VIa of human cytochrome c
            oxidase
  JOURNAL   Nucleic Acids Res 17 (15), 6409 (1989)
   PUBMED   2549515
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK312009.1 and BC107861.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_004373.3.
            
            Summary: Cytochrome c oxidase (COX), the terminal enzyme of the
            mitochondrial respiratory chain, catalyzes the electron transfer
            from reduced cytochrome c to oxygen. It is a heteromeric complex
            consisting of 3 catalytic subunits encoded by mitochondrial genes
            and multiple structural subunits encoded by nuclear genes. The
            mitochondrially-encoded subunits function in the electron transfer
            and the nuclear-encoded subunits may function in the regulation and
            assembly of the complex. This nuclear gene encodes polypeptide 1
            (liver isoform) of subunit VIa, and polypeptide 1 is found in all
            non-muscle tissues. Polypeptide 2 (heart/muscle isoform) of subunit
            VIa is encoded by a different gene, and is present only in striated
            muscles. These two polypeptides share 66% amino acid sequence
            identity. It has been reported that there may be several
            pseudogenes on chromosomes 1, 6, 7q21, 7q31-32 and 12. However,
            only one pseudogene (COX6A1P) on chromosome 1p31.1 has been
            documented. [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 :: AV716665.1, SRR1163657.341458.1
                                           [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                 :: ENST00000229379.3/
                                                  ENSP00000229379.2
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-344               AK312009.1         24-367
            345-537             BC107861.1         349-541
FEATURES             Location/Qualifiers
     source          1..537
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     gene            1..537
                     /gene="COX6A1"
                     /gene_synonym="CMTRID; COX6A; COX6AL"
                     /note="cytochrome c oxidase subunit 6A1"
                     /db_xref="GeneID:1337"
                     /db_xref="HGNC:HGNC:2277"
                     /db_xref="MIM:602072"
     exon            1..117
                     /gene="COX6A1"
                     /gene_synonym="CMTRID; COX6A; COX6AL"
                     /inference="alignment:Splign:2.1.0"
     CDS             15..344
                     /gene="COX6A1"
                     /gene_synonym="CMTRID; COX6A; COX6AL"
                     /EC_number="7.1.1.9"
                     /note="cytochrome C oxidase subunit VIa homolog; COX
                     VIa-L; cytochrome c oxidase subunit VIA-liver; cytochrome
                     c oxidase polypeptide VIa-liver; cytochrome c oxidase
                     subunit VIa polypeptide 1; cytochrome c oxidase subunit
                     VIa liver isoform"
                     /codon_start=1
                     /product="cytochrome c oxidase subunit 6A1, mitochondrial"
                     /protein_id="NP_004364.2"
                     /db_xref="CCDS:CCDS9197.1"
                     /db_xref="GeneID:1337"
                     /db_xref="HGNC:HGNC:2277"
                     /db_xref="MIM:602072"
                     /translation="MAVVGVSSVSRLLGRSRPQLGRPMSSGAHGEEGSARMWKTLTFF
                     VALPGVAVSMLNVYLKSHHGEHERPEFIAYPHLRIRTKPFPWGDGNHTLFHNPHVNPL
                     PTGYEDE"
     exon            118..260
                     /gene="COX6A1"
                     /gene_synonym="CMTRID; COX6A; COX6AL"
                     /inference="alignment:Splign:2.1.0"
     exon            261..537
                     /gene="COX6A1"
                     /gene_synonym="CMTRID; COX6A; COX6AL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      519..524
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COX6A1"
                     /gene_synonym="CMTRID; COX6A; COX6AL"
                     /note="hexamer: AATAAA"
     polyA_site      537
                     /gene="COX6A1"
                     /gene_synonym="CMTRID; COX6A; COX6AL"
                     /note="major polyA site"
ORIGIN      
        1 agtccagatc aaaaatggcg gtagttggtg tgtcctcggt ttctcggctg ctgggtcggt
       61 cccgcccaca gctggggcgg cctatgtcga gtggcgccca tggcgaagag ggctcagctc
      121 gcatgtggaa gactctcacc ttcttcgtcg cgctccccgg ggtggcagtc agcatgctga
      181 atgtgtacct gaagtcgcac cacggagagc acgagagacc cgagttcatc gcctaccccc
      241 atctccgcat caggaccaag ccgtttccct ggggagatgg taaccatact ctattccata
      301 accctcatgt gaatccactt ccaactggct acgaagatga ataaagagaa tctggaccac
      361 tacccgggca ccagggacca cagcactggt ttggaccgtt actctgcaca tggaccagaa
      421 aaagtatatg ggaccttaag ctcaccttct ttacttgtat caaatgatga ctggtatact
      481 ggtctcccat ccctttgctt gtggcaggag atggcttaaa taaataactt aaattta
//
