LOCUS       NM_078470               5030 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens cytochrome c oxidase assembly homolog COX15 (COX15),
            transcript variant 1, mRNA.
ACCESSION   NM_078470
VERSION     NM_078470.6
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 5030)
  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 5030)
  AUTHORS   Zhang,C., Li,N., Liu,Y.Y., Yuan,T., Yang,S. and Wang,X.P.
  TITLE     Cox15 is a novel oncogene that required for lung cancer cell
            proliferation
  JOURNAL   Biochem Biophys Res Commun 578, 70-76 (2021)
   PUBMED   34547626
  REMARK    GeneRIF: Cox15 is a novel oncogene that required for lung cancer
            cell proliferation.
REFERENCE   3  (bases 1 to 5030)
  AUTHORS   Halperin,D., Drabkin,M., Wormser,O., Yogev,Y., Dolgin,V.,
            Shorer,Z., Gradstein,L., Shelef,I., Flusser,H. and Birk,O.S.
  TITLE     Phenotypic variability and mutation hotspot in COX15-related Leigh
            syndrome
  JOURNAL   Am J Med Genet A 182 (6), 1506-1512 (2020)
   PUBMED   32232962
  REMARK    GeneRIF: Phenotypic variability and mutation hotspot in
            COX15-related Leigh syndrome.
REFERENCE   4  (bases 1 to 5030)
  AUTHORS   Malty,R.H., Aoki,H., Kumar,A., Phanse,S., Amin,S., Zhang,Q.,
            Minic,Z., Goebels,F., Musso,G., Wu,Z., Abou-Tok,H., Meyer,M.,
            Deineko,V., Kassir,S., Sidhu,V., Jessulat,M., Scott,N.E., Xiong,X.,
            Vlasblom,J., Prasad,B., Foster,L.J., Alberio,T., Garavaglia,B.,
            Yu,H., Bader,G.D., Nakamura,K., Parkinson,J. and Babu,M.
  TITLE     A Map of Human Mitochondrial Protein Interactions Linked to
            Neurodegeneration Reveals New Mechanisms of Redox Homeostasis and
            NF-kappaB Signaling
  JOURNAL   Cell Syst 5 (6), 564-577 (2017)
   PUBMED   29128334
REFERENCE   5  (bases 1 to 5030)
  AUTHORS   Swenson,S., Cannon,A., Harris,N.J., Taylor,N.G., Fox,J.L. and
            Khalimonchuk,O.
  TITLE     Analysis of Oligomerization Properties of Heme a Synthase Provides
            Insights into Its Function in Eukaryotes
  JOURNAL   J Biol Chem 291 (19), 10411-10425 (2016)
   PUBMED   26940873
  REMARK    GeneRIF: Mutations of COX15 causing single amino acid conversions
            are associated with fatal infantile hypertrophic cardiomyopathy and
            the neurological disorder Leigh syndrome.
REFERENCE   6  (bases 1 to 5030)
  AUTHORS   Antonicka,H., Mattman,A., Carlson,C.G., Glerum,D.M., Hoffbuhr,K.C.,
            Leary,S.C., Kennaway,N.G. and Shoubridge,E.A.
  TITLE     Mutations in COX15 produce a defect in the mitochondrial heme
            biosynthetic pathway, causing early-onset fatal hypertrophic
            cardiomyopathy
  JOURNAL   Am J Hum Genet 72 (1), 101-114 (2003)
   PUBMED   12474143
  REMARK    GeneRIF: Mutations in COX15 produce a defect in the mitochondrial
            heme biosynthetic pathway, causing early-onset fatal hypertrophic
            cardiomyopathy
REFERENCE   7  (bases 1 to 5030)
  AUTHORS   Barros,M.H., Carlson,C.G., Glerum,D.M. and Tzagoloff,A.
  TITLE     Involvement of mitochondrial ferredoxin and Cox15p in hydroxylation
            of heme O
  JOURNAL   FEBS Lett 492 (1-2), 133-138 (2001)
   PUBMED   11248251
REFERENCE   8  (bases 1 to 5030)
  AUTHORS   Petruzzella,V., Tiranti,V., Fernandez,P., Ianna,P., Carrozzo,R. and
            Zeviani,M.
  TITLE     Identification and characterization of human cDNAs specific to
            BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the
            formation and function of the mitochondrial respiratory chain
  JOURNAL   Genomics 54 (3), 494-504 (1998)
   PUBMED   9878253
REFERENCE   9  (bases 1 to 5030)
  AUTHORS   Rahman,S. and Thorburn,D.
  TITLE     Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   26425749
REFERENCE   10 (bases 1 to 5030)
  AUTHORS   Kennaway,N.G., Carrero-Valenzuela,R.D., Ewart,G., Balan,V.K.,
            Lightowlers,R., Zhang,Y.Z., Powell,B.R., Capaldi,R.A. and
            Buist,N.R.
  TITLE     Isoforms of mammalian cytochrome c oxidase: correlation with human
            cytochrome c oxidase deficiency
  JOURNAL   Pediatr Res 28 (5), 529-535 (1990)
   PUBMED   2175025
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL133353.6.
            
            On Aug 2, 2019 this sequence version replaced NM_078470.5.
            
            Summary: Cytochrome c oxidase (COX), the terminal component of the
            mitochondrial respiratory chain, catalyzes the electron transfer
            from reduced cytochrome c to oxygen. This component 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
            electron transfer, and the nuclear-encoded subunits may function in
            the regulation and assembly of the complex. This nuclear gene
            encodes a protein which is not a structural subunit, but may be
            essential for the biogenesis of COX formation and may function in
            the hydroxylation of heme O, according to the yeast mutant studies.
            This protein is predicted to contain 5 transmembrane domains
            localized in the mitochondrial inner membrane. Alternative splicing
            of this gene generates two transcript variants diverging in the 3'
            region. [provided by RefSeq, Jul 2008].
            
            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 :: BC078161.1, BX537557.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000016171.6/
                                                  ENSP00000016171.6
            RefSeq Select criteria             :: based on expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-168               AL133353.6         80522-80689         c
            169-350             AL133353.6         78115-78296         c
            351-473             AL133353.6         76003-76125         c
            474-660             AL133353.6         75530-75716         c
            661-828             AL133353.6         72518-72685         c
            829-910             AL133353.6         69549-69630         c
            911-1065            AL133353.6         66908-67062         c
            1066-1179           AL133353.6         64910-65023         c
            1180-5030           AL133353.6         59430-63280         c
FEATURES             Location/Qualifiers
     source          1..5030
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.2"
     gene            1..5030
                     /gene="COX15"
                     /gene_synonym="CEMCOX2; HAS; MC4DN6"
                     /note="cytochrome c oxidase assembly homolog COX15"
                     /db_xref="GeneID:1355"
                     /db_xref="HGNC:HGNC:2263"
                     /db_xref="MIM:603646"
     exon            1..168
                     /gene="COX15"
                     /gene_synonym="CEMCOX2; HAS; MC4DN6"
                     /inference="alignment:Splign:2.1.0"
     CDS             79..1311
                     /gene="COX15"
                     /gene_synonym="CEMCOX2; HAS; MC4DN6"
                     /EC_number="1.17.99.9"
                     /note="isoform 1 is encoded by transcript variant 1;
                     cytochrome c oxidase subunit 15; cytochrome c oxidase
                     assembly protein COX15 homolog; cytochrome c oxidase
                     assembly homolog 15; COX15 homolog, cytochrome c oxidase
                     assembly protein; COX15, cytochrome c oxidase assembly
                     homolog; heme A synthase COX15"
                     /codon_start=1
                     /product="heme A synthase COX15 isoform 1"
                     /protein_id="NP_510870.1"
                     /db_xref="CCDS:CCDS7482.1"
                     /db_xref="GeneID:1355"
                     /db_xref="HGNC:HGNC:2263"
                     /db_xref="MIM:603646"
                     /translation="MQRLLFPPLRALKGRQYLPLLAPRAAPRAQCDCIRRPLRPGQYS
                     TISEVALQSGRGTVSLPSKAAERVVGRWLLVCSGTVAGAVILGGVTRLTESGLSMVDW
                     HLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVG
                     LVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDSHDIPRV
                     SQYRLAAHLGSALVLYCASLWTSLSLLLPPHKLPETHQLLQLRRFAHGTAGLVFLTAL
                     SGAFVAGLDAGLVYNSFPKMGESWIPEDLFTFSPILRNVFENPTMVQFDHRILGITSV
                     TAITVLYFLSRRIPLPRRTKMAAVTLLALAYTQVGLGISTLLMYVPTPLAATHQSGSL
                     ALLTGALWLMNELRRVPK"
     exon            169..350
                     /gene="COX15"
                     /gene_synonym="CEMCOX2; HAS; MC4DN6"
                     /inference="alignment:Splign:2.1.0"
     exon            351..473
                     /gene="COX15"
                     /gene_synonym="CEMCOX2; HAS; MC4DN6"
                     /inference="alignment:Splign:2.1.0"
     exon            474..660
                     /gene="COX15"
                     /gene_synonym="CEMCOX2; HAS; MC4DN6"
                     /inference="alignment:Splign:2.1.0"
     exon            661..828
                     /gene="COX15"
                     /gene_synonym="CEMCOX2; HAS; MC4DN6"
                     /inference="alignment:Splign:2.1.0"
     exon            829..910
                     /gene="COX15"
                     /gene_synonym="CEMCOX2; HAS; MC4DN6"
                     /inference="alignment:Splign:2.1.0"
     exon            911..1065
                     /gene="COX15"
                     /gene_synonym="CEMCOX2; HAS; MC4DN6"
                     /inference="alignment:Splign:2.1.0"
     exon            1066..1179
                     /gene="COX15"
                     /gene_synonym="CEMCOX2; HAS; MC4DN6"
                     /inference="alignment:Splign:2.1.0"
     exon            1180..5030
                     /gene="COX15"
                     /gene_synonym="CEMCOX2; HAS; MC4DN6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4030..4035
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COX15"
                     /gene_synonym="CEMCOX2; HAS; MC4DN6"
                     /note="hexamer: AATAAA"
     polyA_site      4054
                     /gene="COX15"
                     /gene_synonym="CEMCOX2; HAS; MC4DN6"
                     /note="major polyA site"
     regulatory      5008..5013
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COX15"
                     /gene_synonym="CEMCOX2; HAS; MC4DN6"
                     /note="hexamer: ATTAAA"
     polyA_site      5030
                     /gene="COX15"
                     /gene_synonym="CEMCOX2; HAS; MC4DN6"
ORIGIN      
        1 gcttctcttt tccttggcgg aggagggaga ccacagagcc ctgggttgtg gaagaggtgg
       61 ctgttccctg tcatcagtat gcagcgattg ctctttccgc cgttgagggc cttgaagggg
      121 aggcagtatc tgccgctcct ggctcctagg gcagcgccta gagcacagtg tgattgcatc
      181 aggcgccctt tgaggccagg gcaatacagc accatctctg aagtagcttt gcaatctgga
      241 aggggtacag tgtcccttcc ctcaaaggct gctgagcggg tggtgggccg atggctcctg
      301 gtctgcagtg gaacagtggc tggagcagtt attcttggtg gagtaactag gttgacagag
      361 tctggcctct cgatggtaga ttggcattta ataaaggaga tgaagccacc tacaagccaa
      421 gaggaatggg aagcagaatt ccaaagatac cagcaatttc cagaatttaa aatcttgaat
      481 catgatatga cactgacaga attcaagttc atctggtaca tggagtactc acaccgaatg
      541 tggggtcgcc ttgtaggcct tgtgtacatc ctgcctgctg cctacttttg gagaaagggc
      601 tggctcagcc gtggcatgaa aggacgtgtt cttgccctct gtggcctcgt ctgcttccag
      661 ggtctgttgg gatggtatat ggtgaaaagt ggactagaag aaaaatcaga ctcccatgac
      721 atccctcggg tcagtcagta ccgccttgct gcccacctgg gatcagccct ggttctttat
      781 tgtgccagct tgtggacctc actgtcactg ctactccctc cgcacaagtt gcctgaaacc
      841 caccaactcc tacagttgag acgatttgct catggaacag caggtctggt gttccttacg
      901 gccctctcag gggcttttgt ggcagggcta gatgctgggc ttgtttataa ctcctttccc
      961 aaaatgggag aatcctggat cccggaggac ctctttacct tctcccccat cctgaggaat
     1021 gtttttgaga atcccaccat ggtgcagttt gatcaccgga ttctgggaat cacttcagtc
     1081 actgccatta cagtgctcta cttcctctct cggagaattc cccttcctag aaggaccaag
     1141 atggcagcag tgactctgct ggctttggcg tatacacagg tgggcttggg catcagcacg
     1201 ctgctgatgt atgtcccaac tcctctggcc gccactcacc agtcaggctc cttggctttg
     1261 ctcactggtg ctctttggct gatgaatgaa ctccgaagag tcccaaaatg attcttagag
     1321 gaccagcctc ctgggactgt gactgctttt gagagctctt cagagatcat aagaacttgg
     1381 gcttttctac gagatgacct tgacatacca agtggtttcc aaatggtcaa cttacttaaa
     1441 aatcttttcc tgttttgaga tagtcactgg atcaagaatg cattaagtgt ggttacccta
     1501 aatgttccct tttaaatctg cttttcatgt tgaaaatcag ttttaatgta gagaaagaaa
     1561 tgtctgccat ttgctgctta acaggctttg tgtcaggttt ttcagtgttg gcaagctctt
     1621 ggttctacgt ggatgatttc tacgtggatg ttctcctgag tccttaattc tgcctaaata
     1681 gaatttcttt atgatcttaa cttcacttcc attaggtgaa gattgaaagg ataggattga
     1741 catacccaaa gtagccagct ggtcttcagc aaaaaaaaaa aagctaatgt cttctaatat
     1801 cctgattttc agaaatgggg aaattgcaga ttttgacaag cttaatgtgt atatgtagca
     1861 aaatggtttt taagtacttg gaaaaggagg taatcgccaa atagttccat tttttttttt
     1921 ttttttgaga cagagtttca ctcttgttgc ccaggctgga gtacaatggc gtgatctcag
     1981 ctcactctgc aacctccact tcccaggttc aagcgattct catgcctcag cctcccgagt
     2041 agctgggact acaggcacaa gtcaccatgc ctggctaatt ttgtattttt agtagagaag
     2101 gggtttcacc acattggccg ggctggtctt gaactcctga cctcaggtaa tccgcccatc
     2161 tcggcttccc aaagtgctga gattacaggc atgggccacc acgcccagct agttcctctt
     2221 ttgataaggc tgttaacatt acaaggtcag agagaggaat ggaatcgaca gtataaattg
     2281 gttcctgaga gggtttccta acagctttgt aataagaaaa atatggcctt gatggtgtag
     2341 tgcatggaca tctacccaga taaacaaatt gttgactgct gaattaatgt gattttggtc
     2401 tctattgata tttcataggg ccctgtctta ttcaacttta cttttaaaat cagtgatttg
     2461 gatgaaggca tcagaaacat ctgatttgag gatggagcaa cccaatattg ctaatataat
     2521 agatgacagt ggcaactgaa aacagtccca gaatgacccc atcgagatga aattaaacag
     2581 attagaaatg taacatactc atttaaatta aataagttgt ataagtttgg gctgaagaaa
     2641 cctggcctta tatcatttca tataaaaaag acgggatttt agttgtcctc aggttcaata
     2701 tgaaccaagt agtattcatg ttgttattat atgataacag aaaaattagt ggtacttcag
     2761 gttttatcag tagaagtgtc acagccatag tcaaaatacc cctaacatac tgcatttcac
     2821 tctgggtacc aaatttaagc aagatattga tggccactaa gtgtgtatcc agaagaagag
     2881 atcagaatga tgagtccaga acccctgtca cacagggaat aggtgaagga actagggata
     2941 tttaactgga gcagagaaca tctggagaga gagcaagatt cctgtccttg agaagttgaa
     3001 gccgtctcat gcagaagagg gaatgagctt ccattatgct gcagagctgg cagcaatgga
     3061 tgaaagttgc aggaagttag ttttagttct gtagaaggca agagtagggt agaccaaatc
     3121 aaatgctcac tggggtcagg ctgatggaga cagtaacact ggcgagcagg tgccccagct
     3181 cggactatac tgctgagttc tggtctgttg ctgccactct acaggtccag ggttgttaga
     3241 tcttctgggt ttttgttttg ctttttgaaa taaggaaaat aagcttatct taagtttatt
     3301 tttccttgga tatacctaga ttccatacag tgacaataca aatacaaagg aagaacatct
     3361 ggatttcatc cttgacctca tttacaaagc aaaaagagat gctggattca gatataaatg
     3421 tttaattttg cagtgtttaa gtcagcaaat cttctgtttt ttaaaaataa gccacatatc
     3481 tagatttttc tgtgaaagct ctcaattaag tgttgggaac taatttcaag attttaaaaa
     3541 atgttatgca ggcttaacgt gtctgagagc cataaatgac ctaacgtttc ccgttagtct
     3601 ctgaactagg tgatctcagt tctctttcaa ctccagtact ctgtaagttt ctgtgacctg
     3661 tagtgtacca ttctcaggtg gtgatatggt ttggatgttt tgtcccctcc aaatctcatg
     3721 ttcaaagtgt gacattcagt gttagaggtg ggcctagtag gaggtatttg ggtcatgggg
     3781 gcggatccct tatgtatgac tttgtgccat ccccatagta atgagtgagt tctcactctg
     3841 gttgtttatg caagagctgg ttgtttaaaa gagcctggaa cttcctcctc tctcgcttgc
     3901 tctctctcac catgtgacac actggctccc cttcaccttc tgccatgatt gtaagcttcg
     3961 tgaggccctc accagaagca gatgccagcg ccatgcttcc tatacagttc tatgcagaac
     4021 agtgagccaa ataaacctct tttctttcta aaaattgtca gtatttcctt atagcaatgc
     4081 aagccgacta acacaggtga ttcttagcaa aacagtttgt caatttttca taaatgctgg
     4141 accctggctg ggcttatgct attgcctaga agagattccc aacttctctc ttatttgaat
     4201 cttagaaaaa tcccaaagcc caagcctcat ctaagaccaa ttaagtcaca atccctggag
     4261 gaagtaaaag gcatattttt aaagttcccc aggtgattcc aatgtgcaga caagtctagg
     4321 gaccactggc ttaggtccta atagcctagt taccttagaa agttctgact agcttattcc
     4381 cattcccttc taatttccac cccaccttat catttgatct gctatgttgc tcctattagt
     4441 atgttagtag gatatggtct cttctggata gaatccttca aagaaaggga actgtagttc
     4501 ctgaggcagg ttcccacacc atcctctcct gatcctcaaa cccaggttgt ccttagttag
     4561 taactgagtc agcagagggc agtatgaccc aacccaaaga accatatatt aatgcttcta
     4621 cagttgcctc caaggaagta gcaactcatg agtaagttaa ggtttcagat gttttacttc
     4681 atttttcttt tattacagat gatgagtaca tttggaaaaa caactggttg catttagcta
     4741 tataactgta ttatatctat gagcttctgg tgaatgatta tcttagggtt ttttttgtat
     4801 ttatgttatt cccagcactc ccagacacat atcaaatatt gaattagtga atgcatgaat
     4861 ggaaaatgga taattacaga ttgatgttcc aaataccttt ttccaaaaaa acaagtcatc
     4921 acatacctat aggattaaat agatttccct taatattttc aaaggtctct ctgcacttac
     4981 gtccattgtt tttaaaacat gaaggaaatt aaaacacatg gctttcttaa
//
