LOCUS       NM_032314               1506 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens coenzyme Q5, methyltransferase (COQ5), mRNA; nuclear
            gene for mitochondrial product.
ACCESSION   NM_032314 XM_495935
VERSION     NM_032314.4
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 1506)
  AUTHORS   Nicoll,C.R., Alvigini,L., Gottinger,A., Cecchini,D., Mannucci,B.,
            Corana,F., Mascotti,M.L. and Mattevi,A.
  TITLE     In vitro construction of the COQ metabolon unveils the molecular
            determinants of coenzyme Q biosynthesis
  JOURNAL   Nat Catal 7 (2), 148-160 (2024)
   PUBMED   38425362
REFERENCE   2  (bases 1 to 1506)
  AUTHORS   Rensvold,J.W., Shishkova,E., Sverchkov,Y., Miller,I.J.,
            Cetinkaya,A., Pyle,A., Manicki,M., Brademan,D.R., Alanay,Y.,
            Raiman,J., Jochem,A., Hutchins,P.D., Peters,S.R., Linke,V.,
            Overmyer,K.A., Salome,A.Z., Hebert,A.S., Vincent,C.E.,
            Kwiecien,N.W., Rush,M.J.P., Westphall,M.S., Craven,M., Akarsu,N.A.,
            Taylor,R.W., Coon,J.J. and Pagliarini,D.J.
  TITLE     Defining mitochondrial protein functions through deep multiomic
            profiling
  JOURNAL   Nature 606 (7913), 382-388 (2022)
   PUBMED   35614220
REFERENCE   3  (bases 1 to 1506)
  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   4  (bases 1 to 1506)
  AUTHORS   Malicdan,M.C.V., Vilboux,T., Ben-Zeev,B., Guo,J., Eliyahu,A.,
            Pode-Shakked,B., Dori,A., Kakani,S., Chandrasekharappa,S.C.,
            Ferreira,C.R., Shelestovich,N., Marek-Yagel,D., Pri-Chen,H.,
            Blatt,I., Niederhuber,J.E., He,L., Toro,C., Taylor,R.W., Deeken,J.,
            Yardeni,T., Wallace,D.C., Gahl,W.A. and Anikster,Y.
  TITLE     A novel inborn error of the coenzyme Q10 biosynthesis pathway:
            cerebellar ataxia and static encephalomyopathy due to COQ5
            C-methyltransferase deficiency
  JOURNAL   Hum Mutat 39 (1), 69-79 (2018)
   PUBMED   29044765
  REMARK    GeneRIF: This is the first report of primary CoQ10 deficiency
            caused by loss of function of COQ5, with delineation of the
            clinical, laboratory, histological, and molecular features, and
            insights regarding targeted treatment with CoQ10 supplementation.
REFERENCE   5  (bases 1 to 1506)
  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   6  (bases 1 to 1506)
  AUTHORS   Nguyen,T.P., Casarin,A., Desbats,M.A., Doimo,M., Trevisson,E.,
            Santos-Ocana,C., Navas,P., Clarke,C.F. and Salviati,L.
  TITLE     Molecular characterization of the human COQ5 C-methyltransferase in
            coenzyme Q10 biosynthesis
  JOURNAL   Biochim Biophys Acta 1841 (11), 1628-1638 (2014)
   PUBMED   25152161
REFERENCE   7  (bases 1 to 1506)
  AUTHORS   Chen,S.W., Liu,C.C. and Yen,H.C.
  TITLE     Detection of suppressed maturation of the human COQ5 protein in the
            mitochondria following mitochondrial uncoupling by an antibody
            recognizing both precursor and mature forms of COQ5
  JOURNAL   Mitochondrion 13 (2), 143-152 (2013)
   PUBMED   23354120
  REMARK    GeneRIF: The results that knockdown of the COQ5 gene reduced CoQ10
            levels further indicated the critical role of COQ5 in the
            biosynthesis of CoQ10.
REFERENCE   8  (bases 1 to 1506)
  AUTHORS   Sandholm,N., Salem,R.M., McKnight,A.J., Brennan,E.P., Forsblom,C.,
            Isakova,T., McKay,G.J., Williams,W.W., Sadlier,D.M., Makinen,V.P.,
            Swan,E.J., Palmer,C., Boright,A.P., Ahlqvist,E., Deshmukh,H.A.,
            Keller,B.J., Huang,H., Ahola,A.J., Fagerholm,E., Gordin,D.,
            Harjutsalo,V., He,B., Heikkila,O., Hietala,K., Kyto,J., Lahermo,P.,
            Lehto,M., Lithovius,R., Osterholm,A.M., Parkkonen,M.,
            Pitkaniemi,J., Rosengard-Barlund,M., Saraheimo,M., Sarti,C.,
            Soderlund,J., Soro-Paavonen,A., Syreeni,A., Thorn,L.M.,
            Tikkanen,H., Tolonen,N., Tryggvason,K., Tuomilehto,J., Waden,J.,
            Gill,G.V., Prior,S., Guiducci,C., Mirel,D.B., Taylor,A.,
            Hosseini,S.M., Parving,H.H., Rossing,P., Tarnow,L., Ladenvall,C.,
            Alhenc-Gelas,F., Lefebvre,P., Rigalleau,V., Roussel,R.,
            Tregouet,D.A., Maestroni,A., Maestroni,S., Falhammar,H., Gu,T.,
            Mollsten,A., Cimponeriu,D., Ioana,M., Mota,M., Mota,E.,
            Serafinceanu,C., Stavarachi,M., Hanson,R.L., Nelson,R.G.,
            Kretzler,M., Colhoun,H.M., Panduru,N.M., Gu,H.F., Brismar,K.,
            Zerbini,G., Hadjadj,S., Marre,M., Groop,L., Lajer,M., Bull,S.B.,
            Waggott,D., Paterson,A.D., Savage,D.A., Bain,S.C., Martin,F.,
            Hirschhorn,J.N., Godson,C., Florez,J.C., Groop,P.H. and
            Maxwell,A.P.
  CONSRTM   DCCT/EDIC Research Group
  TITLE     New susceptibility loci associated with kidney disease in type 1
            diabetes
  JOURNAL   PLoS Genet 8 (9), e1002921 (2012)
   PUBMED   23028342
REFERENCE   9  (bases 1 to 1506)
  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 1506)
  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     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BP307378.1, BC107874.1 and AK222610.1.
            
            On Nov 22, 2018 this sequence version replaced NM_032314.3.
            
            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 :: SRR3476690.811544.1, AK293656.1
                                           [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                 :: ENST00000288532.11/
                                                  ENSP00000288532.6
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-41                BP307378.1         4-44
            42-1074             BC107874.1         39-1071
            1075-1506           AK222610.1         1068-1499
FEATURES             Location/Qualifiers
     source          1..1506
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     gene            1..1506
                     /gene="COQ5"
                     /gene_synonym="COQ10D9"
                     /note="coenzyme Q5, methyltransferase"
                     /db_xref="GeneID:84274"
                     /db_xref="HGNC:HGNC:28722"
                     /db_xref="MIM:616359"
     exon            1..219
                     /gene="COQ5"
                     /gene_synonym="COQ10D9"
                     /inference="alignment:Splign:2.1.0"
     CDS             18..1001
                     /gene="COQ5"
                     /gene_synonym="COQ10D9"
                     /EC_number="2.1.1.201"
                     /note="ubiquinone biosynthesis methyltransferase COQ5,
                     mitochondrial; coenzyme Q5 homolog, methyltransferase;
                     2-methoxy-6-polyprenyl-1,4-benzoquinol methylase,
                     mitochondrial"
                     /codon_start=1
                     /product="2-methoxy-6-polyprenyl-1,4-benzoquinol
                     methylase, mitochondrial precursor"
                     /protein_id="NP_115690.3"
                     /db_xref="CCDS:CCDS31912.1"
                     /db_xref="GeneID:84274"
                     /db_xref="HGNC:HGNC:28722"
                     /db_xref="MIM:616359"
                     /translation="MAAPGSCALWSYCGRGWSRAMRGCQLLGLRSSWPGDLLSARLLS
                     QEKRAAETHFGFETVSEEEKGGKVYQVFESVAKKYDVMNDMMSLGIHRVWKDLLLWKM
                     HPLPGTQLLDVAGGTGDIAFRFLNYVQSQHQRKQKRQLRAQQNLSWEEIAKEYQNEED
                     SLGGSRVVVCDINKEMLKVGKQKALAQGYRAGLAWVLGDAEELPFDDDKFDIYTIAFG
                     IRNVTHIDQALQEAHRVLKPGGRFLCLEFSQVNNPLISRLYDLYSFQVIPVLGEVIAG
                     DWKSYQYLVESIRRFPSQEEFKDMIEDAGFHKVTYESLTSGIVAIHSGFKL"
     exon            220..369
                     /gene="COQ5"
                     /gene_synonym="COQ10D9"
                     /inference="alignment:Splign:2.1.0"
     exon            370..591
                     /gene="COQ5"
                     /gene_synonym="COQ10D9"
                     /inference="alignment:Splign:2.1.0"
     exon            592..698
                     /gene="COQ5"
                     /gene_synonym="COQ10D9"
                     /inference="alignment:Splign:2.1.0"
     exon            699..787
                     /gene="COQ5"
                     /gene_synonym="COQ10D9"
                     /inference="alignment:Splign:2.1.0"
     exon            788..899
                     /gene="COQ5"
                     /gene_synonym="COQ10D9"
                     /inference="alignment:Splign:2.1.0"
     exon            900..1506
                     /gene="COQ5"
                     /gene_synonym="COQ10D9"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1485..1490
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COQ5"
                     /gene_synonym="COQ10D9"
                     /note="hexamer: AGTAAA"
     polyA_site      1506
                     /gene="COQ5"
                     /gene_synonym="COQ10D9"
                     /note="major polyA site"
ORIGIN      
        1 gtcactcgac taccaagatg gcggcccccg ggagctgtgc tctatggagc tattgcggcc
       61 gtgggtggtc gcgggcgatg cggggctgcc agctcctcgg gcttcgtagc tcttggcccg
      121 gggacctact aagtgctcgg ctcttgtccc aagagaagcg ggcagcggaa acgcactttg
      181 ggtttgagac tgtgtcggaa gaggagaagg ggggcaaagt ctatcaggtg tttgaaagtg
      241 tggctaagaa gtatgatgtg atgaatgata tgatgagtct tggtatccat cgtgtttgga
      301 aggatttgct gctctggaag atgcacccgc ttcctgggac ccagctgctt gatgttgctg
      361 gaggcacagg tgacattgca ttccggttcc ttaattatgt tcagtcccag catcagagaa
      421 aacagaagag gcagttaagg gcccaacaaa atttatcctg ggaagaaatt gccaaagagt
      481 accagaatga agaagattcc ttgggcgggt ctcgtgtcgt ggtgtgtgac atcaacaagg
      541 agatgctaaa ggttggaaag cagaaagcct tggctcaagg atacagagct ggacttgcat
      601 gggtattagg agatgctgaa gaactgccct ttgatgatga caagtttgat atttacacca
      661 ttgcctttgg gatccggaat gtcacacaca ttgatcaggc actccaggaa gctcatcggg
      721 tgctgaaacc aggaggacgg tttctctgtc tggaatttag ccaagtgaac aatcccctca
      781 tatccaggct ttatgatcta tatagcttcc aggtcatccc tgtcctggga gaggtcatcg
      841 ctggagactg gaagtcctat cagtaccttg tagagagtat ccgaaggttt ccgtctcagg
      901 aagagttcaa ggacatgata gaagatgcag gctttcacaa ggtgacttac gaaagtctaa
      961 catcaggcat tgtggccatt cattctggct tcaaacttta attcctttcc tatcatggag
     1021 catgaaccag tcatatcctg ttgaaagcct ggaactgaag gataatctgg caaatgagac
     1081 agcagcagag catctcctct taaggatacg tgccttggac tcatgtttga atcgaacagt
     1141 ctcaaagtgg aagaacaaat tcttgtcact tttttacagc tttctttgga gctgcttcag
     1201 tccatctccc agaggcattt ggtctgtatc tttgctcaac tgctaatttc tcttggctgt
     1261 agggtgtgtg gttaaggtac aaccacccct aaagctcagt tttgaagtga gtgtatttat
     1321 agcttctctg ctggtgctgc cttctagagg gatgatagat catttgaacc caatgacaat
     1381 ttttaaccag aaaatttaat tgtacctgaa tcaacctttc agcctaggac gaagtctagg
     1441 cccaagtcag agtattaatg atcatgagaa ttgtgtgctg aaccagtaaa cgagtttacc
     1501 ttttga
//
