LOCUS       NM_001303               2898 bp    mRNA    linear   PRI 27-APR-2025
DEFINITION  Homo sapiens cytochrome c oxidase assembly factor heme
            A:farnesyltransferase COX10 (COX10), mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_001303
VERSION     NM_001303.4
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 2898)
  AUTHORS   Voges,T.S., Lim,E.B., MacKenzie,A., Mudler,K., DeSouza,R.,
            Onyejekwe,N.E. and Johnston,S.D.
  TITLE     Phenotypic assessment of Cox10 variants and their implications for
            Leigh Syndrome
  JOURNAL   BMC Res Notes 17 (1), 228 (2024)
   PUBMED   39152498
  REMARK    GeneRIF: Phenotypic assessment of Cox10 variants and their
            implications for Leigh Syndrome.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2898)
  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 2898)
  AUTHORS   Yang,Z., Zhang,Q., Yu,H., Li,L., He,Y., Zhu,S., Li,C., Zhang,S.,
            Luo,B. and Gao,Y.
  TITLE     A Novel COX10 Deletion Polymorphism as a Susceptibility Factor for
            Sudden Cardiac Death Risk in Chinese Populations
  JOURNAL   DNA Cell Biol 40 (1), 10-17 (2021)
   PUBMED   33180568
  REMARK    GeneRIF: A Novel COX10 Deletion Polymorphism as a Susceptibility
            Factor for Sudden Cardiac Death Risk in Chinese Populations.
REFERENCE   4  (bases 1 to 2898)
  AUTHORS   Schull,S., Gunther,S.D., Brodesser,S., Seeger,J.M., Tosetti,B.,
            Wiegmann,K., Pongratz,C., Diaz,F., Witt,A., Andree,M.,
            Brinkmann,K., Kronke,M., Wiesner,R.J. and Kashkar,H.
  TITLE     Cytochrome c oxidase deficiency accelerates mitochondrial apoptosis
            by activating ceramide synthase 6
  JOURNAL   Cell Death Dis 6 (3), e1691 (2015)
   PUBMED   25766330
  REMARK    GeneRIF: On the basis of its pivotal role in regulating cell death
            upon COX dysfunction, CerS6 might potentially represent a novel
            target for therapeutic intervention in mitochondrial diseases
            caused by COX dysfunction.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2898)
  AUTHORS   Service,S.K., Verweij,K.J., Lahti,J., Congdon,E., Ekelund,J.,
            Hintsanen,M., Raikkonen,K., Lehtimaki,T., Kahonen,M., Widen,E.,
            Taanila,A., Veijola,J., Heath,A.C., Madden,P.A., Montgomery,G.W.,
            Sabatti,C., Jarvelin,M.R., Palotie,A., Raitakari,O., Viikari,J.,
            Martin,N.G., Eriksson,J.G., Keltikangas-Jarvinen,L., Wray,N.R. and
            Freimer,N.B.
  TITLE     A genome-wide meta-analysis of association studies of Cloninger's
            Temperament Scales
  JOURNAL   Transl Psychiatry 2 (5), e116 (2012)
   PUBMED   22832960
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2898)
  AUTHORS   Kennerson,M.L., Nassif,N.T., Dawkins,J.L., DeKroon,R.M., Yang,J.G.
            and Nicholson,G.A.
  TITLE     The Charcot-Marie-Tooth binary repeat contains a gene transcribed
            from the opposite strand of a partially duplicated region of the
            COX10 gene
  JOURNAL   Genomics 46 (1), 61-69 (1997)
   PUBMED   9403059
REFERENCE   7  (bases 1 to 2898)
  AUTHORS   Reiter,L.T., Murakami,T., Koeuth,T., Gibbs,R.A. and Lupski,J.R.
  TITLE     The human COX10 gene is disrupted during homologous recombination
            between the 24 kb proximal and distal CMT1A-REPs
  JOURNAL   Hum Mol Genet 6 (9), 1595-1603 (1997)
   PUBMED   9285799
REFERENCE   8  (bases 1 to 2898)
  AUTHORS   Murakami,T., Reiter,L.T. and Lupski,J.R.
  TITLE     Genomic structure and expression of the human heme
            A:farnesyltransferase (COX10) gene
  JOURNAL   Genomics 42 (1), 161-164 (1997)
   PUBMED   9177788
REFERENCE   9  (bases 1 to 2898)
  AUTHORS   Glerum,D.M. and Tzagoloff,A.
  TITLE     Isolation of a human cDNA for heme A:farnesyltransferase by
            functional complementation of a yeast cox10 mutant
  JOURNAL   Proc Natl Acad Sci U S A 91 (18), 8452-8456 (1994)
   PUBMED   8078902
REFERENCE   10 (bases 1 to 2898)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005389.1, AK312718.1,
            BC000060.2, DA200545.1 and U09466.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001303.3.
            
            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 heme A:farnesyltransferase, which is not a structural
            subunit but required for the expression of functional COX and
            functions in the maturation of the heme A prosthetic group of COX.
            This protein is predicted to contain 7-9 transmembrane domains
            localized in the mitochondrial inner membrane. A gene mutation,
            which results in the substitution of a lysine for an asparagine
            (N204K), is identified to be responsible for cytochrome c oxidase
            deficiency. In addition, this gene is disrupted in patients with
            CMT1A (Charcot-Marie-Tooth type 1A) duplication and with HNPP
            (hereditary neuropathy with liability to pressure palsies)
            deletion. [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 :: SRR1660803.262075.1,
                                           SRR1803611.231070.1 [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                 :: ENST00000261643.8/
                                                  ENSP00000261643.3
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 AC005389.1         114143-114145       c
            4-25                AK312718.1         1-22
            26-577              BC000060.2         1-552
            578-1116            DA200545.1         27-565
            1117-1730           BC000060.2         1092-1705
            1731-1903           U09466.1           1670-1842
            1904-2511           BC000060.2         1879-2486
            2512-2554           U09466.1           2450-2492
            2555-2898           BC000060.2         2530-2873
FEATURES             Location/Qualifiers
     source          1..2898
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p12"
     gene            1..2898
                     /gene="COX10"
                     /gene_synonym="MC4DN3"
                     /note="cytochrome c oxidase assembly factor heme
                     A:farnesyltransferase COX10"
                     /db_xref="GeneID:1352"
                     /db_xref="HGNC:HGNC:2260"
                     /db_xref="MIM:602125"
     exon            1..145
                     /gene="COX10"
                     /gene_synonym="MC4DN3"
                     /inference="alignment:Splign:2.1.0"
     CDS             103..1434
                     /gene="COX10"
                     /gene_synonym="MC4DN3"
                     /EC_number="2.5.1.141"
                     /note="cytochrome c oxidase subunit X; heme A:
                     farnesyltransferase; cytochrome c oxidase assembly
                     protein; heme O synthase; COX10 homolog, cytochrome c
                     oxidase assembly protein, heme A: farnesyltransferase;
                     cytochrome c oxidase assembly homolog 10; COX10, heme
                     A:farnesyltransferase cytochrome c oxidase assembly
                     factor"
                     /codon_start=1
                     /product="protoheme IX farnesyltransferase, mitochondrial"
                     /protein_id="NP_001294.2"
                     /db_xref="CCDS:CCDS11166.1"
                     /db_xref="GeneID:1352"
                     /db_xref="HGNC:HGNC:2260"
                     /db_xref="MIM:602125"
                     /translation="MAASPHTLSSRLLTGCVGGSVWYLERRTIQDSPHKFLHLLRNVN
                     KQWITFQHFSFLKRMYVTQLNRSHNQQVRPKPEPVASPFLEKTSSGQAKAEIYEMRPL
                     SPPSLSLSRKPNEKELIELEPDSVIEDSIDVGKETKEEKRWKEMKLQVYDLPGILARL
                     SKIKLTALVVSTTAAGFALAPGPFDWPCFLLTSVGTGLASCAANSINQFFEVPFDSNM
                     NRTKNRPLVRGQISPLLAVSFATCCAVPGVAILTLGVNPLTGALGLFNIFLYTCCYTP
                     LKRISIANTWVGAVVGAIPPVMGWTAATGSLDAGAFLLGGILYSWQFPHFNALSWGLR
                     EDYSRGGYCMMSVTHPGLCRRVALRHCLALLVLSAAAPVLDITTWTFPIMALPINAYI
                     SYLGFRFYVDADRRSSRRLFFCSLWHLPLLLLLMLTCKRPSGGGDAGPPPS"
     exon            146..279
                     /gene="COX10"
                     /gene_synonym="MC4DN3"
                     /inference="alignment:Splign:2.1.0"
     exon            280..601
                     /gene="COX10"
                     /gene_synonym="MC4DN3"
                     /inference="alignment:Splign:2.1.0"
     exon            602..726
                     /gene="COX10"
                     /gene_synonym="MC4DN3"
                     /inference="alignment:Splign:2.1.0"
     exon            727..797
                     /gene="COX10"
                     /gene_synonym="MC4DN3"
                     /inference="alignment:Splign:2.1.0"
     exon            798..1030
                     /gene="COX10"
                     /gene_synonym="MC4DN3"
                     /inference="alignment:Splign:2.1.0"
     exon            1031..2898
                     /gene="COX10"
                     /gene_synonym="MC4DN3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2879..2884
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COX10"
                     /gene_synonym="MC4DN3"
                     /note="hexamer: AATAAA"
     polyA_site      2898
                     /gene="COX10"
                     /gene_synonym="MC4DN3"
                     /note="major polyA site"
ORIGIN      
        1 actactccca caggggggcg gggaaggaag atggcggcgc ccagcgtccc gtgaggagag
       61 aggacacagg gatcccgggg agcggcccca gactcgtaaa ttatggccgc atctccgcac
      121 actctctcct cacgcctcct gacaggttgc gtaggaggct ctgtctggta tcttgaaaga
      181 agaactatac aggactcccc tcacaagttc ttacatcttc tcaggaatgt caataagcag
      241 tggattacat ttcagcactt tagcttcctc aaacgcatgt atgtcacaca gctgaacaga
      301 agccacaacc agcaagtaag acccaagcca gaaccagtag catctccttt ccttgaaaaa
      361 acatcttcag gtcaagccaa agcagaaata tatgagatga gacctctctc accgcccagc
      421 ctatctttgt ccagaaagcc aaatgaaaag gaattgatag aactagagcc agactcagta
      481 attgaagact caatagatgt agggaaagag acaaaagagg aaaagcggtg gaaagagatg
      541 aagctgcaag tgtatgattt gccaggaatt ttggctcgac tatccaaaat caaactcaca
      601 gctctggttg taagtaccac tgcagctgga tttgcattgg ctccgggccc ttttgactgg
      661 ccctgtttcc tgcttacttc tgttgggaca ggccttgcat cctgtgctgc caactccatc
      721 aatcagtttt ttgaggtgcc atttgactca aacatgaata ggacaaagaa cagaccgctg
      781 gttcgtggac agatcagccc attgctagct gtgtcctttg ccacttgttg tgctgttccg
      841 ggagttgcca ttctgacctt gggggtgaat ccactcacag gagccctggg gctcttcaac
      901 attttcctgt atacctgctg ctacacacca ctgaaaagga tcagcattgc caacacatgg
      961 gtcggagctg tggttggggc catcccgcct gtcatgggct ggacagcggc cacgggcagc
     1021 ctcgatgctg gcgcatttct cctgggagga atcctctact cctggcagtt tcctcatttc
     1081 aacgccctga gctggggcct ccgtgaagac tactcccggg gcggctactg catgatgtcg
     1141 gtcacccacc cgggcctgtg ccggcgcgtg gcgctgcgcc actgcctggc cctgctcgtg
     1201 ctgtccgcag cagcccctgt gctggacatc accacatgga ccttccccat catggccctt
     1261 cccatcaatg cgtacatctc ctacctcggc ttccgcttct acgtggacgc agaccgcagg
     1321 agctcgcgga gactgttctt ctgcagcctg tggcacctgc cgctgctgct gctgctcatg
     1381 ctcacctgca agcggccgag cggaggcggg gacgcagggc cccctcccag ctgagagcac
     1441 tgggacgccc accgcccctt tccctccgct gccaggcgag catgttgtgg taattctgga
     1501 acacaagaag agaaattgct gggtttagaa caagattata aacgaattcg gtgctcagtg
     1561 atcacttgac agtttttttt ttttttaaat attacccaaa atgctcccca aataagaaat
     1621 gcatcagctc agtcagtgaa tacaaaaaag gaattatttt tccctttgag ggtctttata
     1681 catctctcct ccaaccccac cctctattct gtttcttcct cctcacatgg gggtacacat
     1741 acacagcttc ctcttttggt tccatcctta ccaccacacc acacgcacac tccacatgcc
     1801 cagcagagtg gcacttggtg gccagaaagt gtgagcctca tgatctgctg tctgtagttc
     1861 tgtgagctca ggtccctcaa aggcctcgga gcaccccctt cctggtgact gagccagggc
     1921 ctgcattttt ggttttcccc accccacaca ttctcaacca tagtccttct aacaatacca
     1981 atagctagga cccggctgct gtgcactggg actggggatt ccacatgttt gccttgggag
     2041 tctcaagctg gactgccagc ccctgtcctc ccttcacccc cattgcgtat gagcatttca
     2101 gaactccaag gagtcacagg catctttata gttcacgtta acatatagac actgttggaa
     2161 gcagttcctt ctaaaagggt agccctggac ttaataccag ccggatacct ctggccccca
     2221 ccccattact gtacctctgg agtcactact gtgggtcgcc actcctctgc tacacagcac
     2281 ggctttttca aggctgtatt gagaagggaa gttaggaaga agggtgtgct gggctaacca
     2341 gcccacagag ctcacattcc tgtcccttgg gtgaaaaata catgtccatc ctgatatctc
     2401 ctgaattcag aaattagcct ccacatgtgc aatggcttta agagccagaa gcagggttct
     2461 gggaattttg caagttatcc tgtggccagg tgtggtctcg gttaccaaat acggttacct
     2521 gcagcttttt agtcctttgt gctcccacgg gtctgcagag tcccatctgc ccaaaggtct
     2581 tgaagcttga caggatgttt tcattactca gtctcccagg gcactgctgg tccgtaggga
     2641 ttcattggtc ggggtgggag agttaaacaa catttaaaca gagttctctc aaaaatgtct
     2701 aaagggattg taggtagata acatccaatc actgtttgca cttatctgaa atcttccctc
     2761 ttggctgccc ccaggtattt actgtggaga acattgcata ggaatgtctg gaaaaagcct
     2821 ctacaacttg ttacagcctt cacatttgta caattcattg attctctttt ccttccacaa
     2881 taaaatggta tacaagaa
//
