LOCUS       NM_182476               2109 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens coenzyme Q6, monooxygenase (COQ6), transcript variant
            1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_182476 NM_015940
VERSION     NM_182476.3
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 2109)
  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 2109)
  AUTHORS   Yuruk Yildirim,Z., Toksoy,G., Uyguner,O., Nayir,A., Yavuz,S.,
            Altunoglu,U., Turkkan,O.N., Sevinc,B., Gokcay,G., Kurkcu Gunes,D.,
            Kiyak,A. and Yilmaz,A.
  TITLE     Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with
            variable expressivity of the renal phenotype
  JOURNAL   Eur J Med Genet 63 (1), 103621 (2020)
   PUBMED   30682496
  REMARK    GeneRIF: Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings
            with variable expressivity of the renal phenotype.
REFERENCE   3  (bases 1 to 2109)
  AUTHORS   Stefely,J.A. and Pagliarini,D.J.
  TITLE     Biochemistry of Mitochondrial Coenzyme Q Biosynthesis
  JOURNAL   Trends Biochem Sci 42 (10), 824-843 (2017)
   PUBMED   28927698
  REMARK    Review article
REFERENCE   4  (bases 1 to 2109)
  AUTHORS   Gigante,M., Diella,S., Santangelo,L., Trevisson,E., Acosta,M.J.,
            Amatruda,M., Finzi,G., Caridi,G., Murer,L., Accetturo,M.,
            Ranieri,E., Ghiggeri,G.M., Giordano,M., Grandaliano,G., Salviati,L.
            and Gesualdo,L.
  TITLE     Further phenotypic heterogeneity of CoQ10 deficiency associated
            with steroid resistant nephrotic syndrome and novel COQ2 and COQ6
            variants
  JOURNAL   Clin Genet 92 (2), 224-226 (2017)
   PUBMED   28044327
  REMARK    GeneRIF: CoQ10 deficiency associated with steroid resistant
            nephrotic syndrome and novel homozygous missense change in COQ6
            gene: p.Pro261Leu.
REFERENCE   5  (bases 1 to 2109)
  AUTHORS   Park,E., Ahn,Y.H., Kang,H.G., Yoo,K.H., Won,N.H., Lee,K.B.,
            Moon,K.C., Seong,M.W., Gwon,T.R., Park,S.S. and Cheong,H.I.
  TITLE     COQ6 Mutations in Children With Steroid-Resistant Focal Segmental
            Glomerulosclerosis and Sensorineural Hearing Loss
  JOURNAL   Am J Kidney Dis 70 (1), 139-144 (2017)
   PUBMED   28117207
  REMARK    GeneRIF: Primary CoQ10 deficiency due to COQ6 mutations should be
            considered in children presenting with both Steroid-Resistant Focal
            Segmental Glomerulosclerosis and sensorineural hearing loss. An
            early diagnosis of COQ6 mutations is essential because the
            condition is treatable when CoQ10 supplementation is started at the
            early stage.
REFERENCE   6  (bases 1 to 2109)
  AUTHORS   Floyd,B.J., Wilkerson,E.M., Veling,M.T., Minogue,C.E., Xia,C.,
            Beebe,E.T., Wrobel,R.L., Cho,H., Kremer,L.S., Alston,C.L.,
            Gromek,K.A., Dolan,B.K., Ulbrich,A., Stefely,J.A., Bohl,S.L.,
            Werner,K.M., Jochem,A., Westphall,M.S., Rensvold,J.W., Taylor,R.W.,
            Prokisch,H., Kim,J.P., Coon,J.J. and Pagliarini,D.J.
  TITLE     Mitochondrial Protein Interaction Mapping Identifies Regulators of
            Respiratory Chain Function
  JOURNAL   Mol Cell 63 (4), 621-632 (2016)
   PUBMED   27499296
REFERENCE   7  (bases 1 to 2109)
  AUTHORS   Zhang,K., Lin,J.W., Wang,J., Wu,X., Gao,H., Hsieh,Y.C., Hwu,P.,
            Liu,Y.R., Su,L., Chiou,H.Y., Wang,D., Yuan,Y.C., Whang-Peng,J.,
            Chiu,W.T. and Yen,Y.
  TITLE     A germline missense mutation in COQ6 is associated with
            susceptibility to familial schwannomatosis
  JOURNAL   Genet Med 16 (10), 787-792 (2014)
   PUBMED   24763291
  REMARK    GeneRIF: Data indicate a heterozygous loss-of-function coenzyme Q10
            (CoQ10) biosynthesis monooxygenase 6 gene (COQ6)missense mutation
            in familial schwannomatosis.
REFERENCE   8  (bases 1 to 2109)
  AUTHORS   Heeringa,S.F., Chernin,G., Chaki,M., Zhou,W., Sloan,A.J., Ji,Z.,
            Xie,L.X., Salviati,L., Hurd,T.W., Vega-Warner,V., Killen,P.D.,
            Raphael,Y., Ashraf,S., Ovunc,B., Schoeb,D.S., McLaughlin,H.M.,
            Airik,R., Vlangos,C.N., Gbadegesin,R., Hinkes,B., Saisawat,P.,
            Trevisson,E., Doimo,M., Casarin,A., Pertegato,V., Giorgi,G.,
            Prokisch,H., Rotig,A., Nurnberg,G., Becker,C., Wang,S., Ozaltin,F.,
            Topaloglu,R., Bakkaloglu,A., Bakkaloglu,S.A., Muller,D.,
            Beissert,A., Mir,S., Berdeli,A., Varpizen,S., Zenker,M.,
            Matejas,V., Santos-Ocana,C., Navas,P., Kusakabe,T., Kispert,A.,
            Akman,S., Soliman,N.A., Krick,S., Mundel,P., Reiser,J.,
            Nurnberg,P., Clarke,C.F., Wiggins,R.C., Faul,C. and Hildebrandt,F.
  TITLE     COQ6 mutations in human patients produce nephrotic syndrome with
            sensorineural deafness
  JOURNAL   J Clin Invest 121 (5), 2013-2024 (2011)
   PUBMED   21540551
  REMARK    GeneRIF: COQ6 mutations in human patients produce nephrotic
            syndrome with sensorineural deafness
REFERENCE   9  (bases 1 to 2109)
  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   10 (bases 1 to 2109)
  AUTHORS   Salviati,L., Trevisson,E., Agosto,C., Doimo,M. and Navas,P.
  TITLE     Primary Coenzyme Q10 Deficiency Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   28125198
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX342249.2, BC014181.2 and
            AC005480.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_182476.2.
            
            Summary: The protein encoded by this gene belongs to the ubiH/COQ6
            family. It is an evolutionarily conserved monooxygenase required
            for the biosynthesis of coenzyme Q10 (or ubiquinone), which is an
            essential component of the mitochondrial electron transport chain,
            and one of the most potent lipophilic antioxidants implicated in
            the protection of cell damage by reactive oxygen species. Knockdown
            of this gene in mouse and zebrafish results in decreased growth due
            to increased apoptosis. Mutations in this gene are associated with
            autosomal recessive coenzyme Q10 deficiency-6 (COQ10D6), which
            manifests as nephrotic syndrome with sensorineural deafness.
            Alternatively spliced transcript variants encoding different
            isoforms have been described for this gene. [provided by RefSeq,
            Jun 2012].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.132677.1,
                                           SRR1660803.117917.1 [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                 :: ENST00000334571.7/
                                                  ENSP00000333946.2
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 BX342249.2         52-52
            2-1551              BC014181.2         1-1550
            1552-2109           AC005480.3         45677-46234         c
FEATURES             Location/Qualifiers
     source          1..2109
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.3"
     gene            1..2109
                     /gene="COQ6"
                     /gene_synonym="CGI-10; CGI10; COQ10D6"
                     /note="coenzyme Q6, monooxygenase"
                     /db_xref="GeneID:51004"
                     /db_xref="HGNC:HGNC:20233"
                     /db_xref="MIM:614647"
     exon            1..194
                     /gene="COQ6"
                     /gene_synonym="CGI-10; CGI10; COQ10D6"
                     /inference="alignment:Splign:2.1.0"
     CDS             32..1438
                     /gene="COQ6"
                     /gene_synonym="CGI-10; CGI10; COQ10D6"
                     /EC_number="1.14.13.-"
                     /note="isoform a is encoded by transcript variant 1;
                     coenzyme Q10 monooxygenase 6; coenzyme Q6 homolog,
                     monooxygenase; ubiquinone biosynthesis monooxygenase COQ6,
                     mitochondrial"
                     /codon_start=1
                     /product="ubiquinone biosynthesis monooxygenase COQ6,
                     mitochondrial isoform a"
                     /protein_id="NP_872282.1"
                     /db_xref="CCDS:CCDS9823.1"
                     /db_xref="GeneID:51004"
                     /db_xref="HGNC:HGNC:20233"
                     /db_xref="MIM:614647"
                     /translation="MAARLVSRCGAVRAAPHSGPLVSWRRWSGASTDTVYDVVVSGGG
                     LVGAAMACALGYDIHFHDKKILLLEAGPKKVLEKLSETYSNRVSSISPGSATLLSSFG
                     AWDHICNMRYRAFRRMQVWDACSEALIMFDKDNLDDMGYIVENDVIMHALTKQLEAVS
                     DRVTVLYRSKAIRYTWPCPFPMADSSPWVHITLGDGSTFQTKLLIGADGHNSGVRQAV
                     GIQNVSWNYDQSAVVATLHLSEATENNVAWQRFLPSGPIALLPLSDTLSSLVWSTSHE
                     HAAELVSMDEEKFVDAVNSAFWSDADHTDFIDTAGAMLQYAVSLLKPTKVSARQLPPS
                     VARVDAKSRVLFPLGLGHAAEYVRPRVALIGDAAHRVHPLAGQGVNMGFGDISSLAHH
                     LSTAAFNGKDLGSVSHLTGYETERQRHNTALLAATDLLKRLYSTSASPLVLLRTWGLQ
                     ATNAVSPLKEQIMAFASK"
     exon            195..329
                     /gene="COQ6"
                     /gene_synonym="CGI-10; CGI10; COQ10D6"
                     /inference="alignment:Splign:2.1.0"
     exon            330..388
                     /gene="COQ6"
                     /gene_synonym="CGI-10; CGI10; COQ10D6"
                     /inference="alignment:Splign:2.1.0"
     exon            389..512
                     /gene="COQ6"
                     /gene_synonym="CGI-10; CGI10; COQ10D6"
                     /inference="alignment:Splign:2.1.0"
     exon            513..643
                     /gene="COQ6"
                     /gene_synonym="CGI-10; CGI10; COQ10D6"
                     /inference="alignment:Splign:2.1.0"
     exon            644..751
                     /gene="COQ6"
                     /gene_synonym="CGI-10; CGI10; COQ10D6"
                     /inference="alignment:Splign:2.1.0"
     exon            752..814
                     /gene="COQ6"
                     /gene_synonym="CGI-10; CGI10; COQ10D6"
                     /inference="alignment:Splign:2.1.0"
     exon            815..922
                     /gene="COQ6"
                     /gene_synonym="CGI-10; CGI10; COQ10D6"
                     /inference="alignment:Splign:2.1.0"
     exon            923..1125
                     /gene="COQ6"
                     /gene_synonym="CGI-10; CGI10; COQ10D6"
                     /inference="alignment:Splign:2.1.0"
     exon            1126..1241
                     /gene="COQ6"
                     /gene_synonym="CGI-10; CGI10; COQ10D6"
                     /inference="alignment:Splign:2.1.0"
     exon            1242..1408
                     /gene="COQ6"
                     /gene_synonym="CGI-10; CGI10; COQ10D6"
                     /inference="alignment:Splign:2.1.0"
     exon            1409..2109
                     /gene="COQ6"
                     /gene_synonym="CGI-10; CGI10; COQ10D6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1529..1534
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COQ6"
                     /gene_synonym="CGI-10; CGI10; COQ10D6"
                     /note="hexamer: AATAAA"
     polyA_site      1551
                     /gene="COQ6"
                     /gene_synonym="CGI-10; CGI10; COQ10D6"
                     /note="major polyA site"
     regulatory      1883..1888
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COQ6"
                     /gene_synonym="CGI-10; CGI10; COQ10D6"
                     /note="hexamer: AATATA"
     regulatory      1885..1890
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COQ6"
                     /gene_synonym="CGI-10; CGI10; COQ10D6"
                     /note="hexamer: TATAAA"
     polyA_site      1899
                     /gene="COQ6"
                     /gene_synonym="CGI-10; CGI10; COQ10D6"
     polyA_site      1904
                     /gene="COQ6"
                     /gene_synonym="CGI-10; CGI10; COQ10D6"
     regulatory      2036..2041
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COQ6"
                     /gene_synonym="CGI-10; CGI10; COQ10D6"
                     /note="hexamer: AATAAA"
     polyA_site      2055
                     /gene="COQ6"
                     /gene_synonym="CGI-10; CGI10; COQ10D6"
ORIGIN      
        1 agttctgagt gcgacggcgc aggtctgcac catggcggcc cggcttgtca gccgatgcgg
       61 ggctgtgcgt gcagctcccc acagcggccc gctggtgtcc tggcgcaggt ggtccggcgc
      121 ctcaacagac accgtgtatg acgtggtggt gtcgggtgga ggcctggtgg gcgctgccat
      181 ggcctgtgcc ttgggatatg atattcactt tcatgacaag aaaatcctgt tgctcgaagc
      241 aggtccaaag aaagtactgg agaaattgtc agaaacttac agcaacaggg tcagctccat
      301 ttcccctggc tctgcaacgc ttctcagtag ttttggtgcc tgggaccata tctgcaacat
      361 gagatacaga gcctttcggc gaatgcaggt gtgggacgcc tgctcagagg ccctgataat
      421 gtttgataag gataatttag atgacatggg ctatatcgtg gagaatgatg tcatcatgca
      481 tgctctcact aagcagttgg aggctgtgtc tgaccgagtg acggttctct acaggagcaa
      541 agccattcgc tatacctggc cttgtccatt tcctatggcc gactccagcc cttgggttca
      601 tattacccta ggtgatggca gcaccttcca gaccaaattg ttgataggtg cagatggtca
      661 caactccgga gtacggcagg ctgttggaat ccagaatgtg agctggaact atgaccagtc
      721 tgctgttgtg gctactctgc atttatcaga ggccacagaa aacaacgtag cctggcagag
      781 atttcttccc tctgggccta ttgctctgct cccgctctca gacaccttga gttccttggt
      841 ttggtccacg tcccatgaac atgcagcaga gctagttagc atggatgagg aaaaatttgt
      901 ggatgccgtt aactctgcct tttggagtga tgctgaccac acggacttca tcgacacagc
      961 tggtgccatg ctgcagtatg ctgtcagcct tctgaagccc actaaggtct cggctcgcca
     1021 gctgccccca agcgtagcca gggtggatgc caaaagccga gttctgtttc ctcttgggtt
     1081 gggacatgct gctgagtacg tcaggcctcg ggtggcgctc attggggatg cagcccacag
     1141 agtccatccg cttgcaggac agggtgtcaa catgggcttt ggggatatct ccagcttggc
     1201 ccatcacctc agtacggcag ccttcaatgg gaaggactta ggttccgtga gccacctcac
     1261 aggttatgaa acagaaagac agcgtcacaa cactgctctt ctggctgcta cagacttact
     1321 aaaaaggctc tattctacca gtgcctcccc gcttgtgttg ctcaggacgt ggggcttgca
     1381 ggccacaaat gcagtgtctc cactcaaaga acagattatg gcctttgcaa gcaaatgagt
     1441 actcctctcc taaagaaaga ttacgttgat gaaaaagaac atcctgccca ggacccatca
     1501 tacatatttt caagatctta tttaatttaa taaacttact ttacattaaa attctctttt
     1561 tcttctttgc ttaatgggcc tgtggcaccc aaataatgaa tgataatttg ctgtgaggag
     1621 cgtatattag ccagaccaaa ggaaaaaact tcgaaggaag acttacaatt tggttgaaaa
     1681 gagcttttta ttactaaaaa acccacaagg tgctgtctca ctcatttcca gttaatcatt
     1741 tctaaagaga aaatttacat tttgtttttg ttttaatgtt ggtcataaat ttatacagtt
     1801 gttttttgat agaggtaaga attagactcg atgcattttt gttagaattg ctgtttaaat
     1861 gttaacatca gaatgcaaat taaatataaa ttgctttaac ctttgttaca ggtatactgg
     1921 actttctgaa aggaaaacca ggtctcatta atgctagtta ttactttatc acagcaccag
     1981 atttccattt tatttatggt tcctctctgg gacaccactg tcggtttaat aaaacaataa
     2041 ataattcatt gcacagatcc gaagacctca ggaaccagat cacaagggaa accgattagc
     2101 agcagaatt
//
