LOCUS       NM_144576               1570 bp    mRNA    linear   PRI 03-OCT-2024
DEFINITION  Homo sapiens coenzyme Q10A (COQ10A), transcript variant 1, mRNA;
            nuclear gene for mitochondrial product.
ACCESSION   NM_144576
VERSION     NM_144576.4
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 1570)
  AUTHORS   Yen,H.C., Chen,B.S., Yang,S.L., Wu,S.Y., Chang,C.W., Wei,K.C.,
            Hsu,J.C., Hsu,Y.H., Yen,T.H. and Lin,C.L.
  TITLE     Levels of Coenzyme Q10 and Several COQ Proteins in Human
            Astrocytoma Tissues Are Inversely Correlated with Malignancy
  JOURNAL   Biomolecules 12 (2), 336 (2022)
   PUBMED   35204836
  REMARK    GeneRIF: Levels of Coenzyme Q10 and Several COQ Proteins in Human
            Astrocytoma Tissues Are Inversely Correlated with Malignancy.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1570)
  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 1570)
  AUTHORS   Navas,P., Cascajo,M.V., Alcazar-Fabra,M., Hernandez-Camacho,J.D.,
            Sanchez-Cuesta,A., Rodriguez,A.B.C., Ballesteros-Simarro,M.,
            Arroyo-Luque,A., Rodriguez-Aguilera,J.C., Fernandez-Ayala,D.J.M.,
            Brea-Calvo,G., Lopez-Lluch,G. and Santos-Ocana,C.
  TITLE     Secondary CoQ10 deficiency, bioenergetics unbalance in disease and
            aging
  JOURNAL   Biofactors 47 (4), 551-569 (2021)
   PUBMED   33878238
  REMARK    GeneRIF: Secondary CoQ10 deficiency, bioenergetics unbalance in
            disease and aging.
            Review article
REFERENCE   4  (bases 1 to 1570)
  AUTHORS   Naess,K., Bruhn,H., Stranneheim,H., Freyer,C., Wibom,R.,
            Mourier,A., Engvall,M., Nennesmo,I., Lesko,N., Wredenberg,A.,
            Wedell,A. and von Dobeln,U.
  TITLE     Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in
            55 Children with Combined Enzyme Deficiencies of the Mitochondrial
            Respiratory Chain
  JOURNAL   J Pediatr 228, 240-251 (2021)
   PUBMED   32827528
  REMARK    GeneRIF: Clinical Presentation, Genetic Etiology, and Coenzyme Q10
            Levels in 55 Children with Combined Enzyme Deficiencies of the
            Mitochondrial Respiratory Chain.
REFERENCE   5  (bases 1 to 1570)
  AUTHORS   El-Attar,E., Kamel,A., Karmouty,A., Wehida,N., Nassra,R., El
            Nemr,M. and Kandil,N.S.
  TITLE     Assessment of Serum CoQ10 Levels and other Antioxidant Markers in
            Breast Cancer
  JOURNAL   Asian Pac J Cancer Prev 21 (2), 465-471 (2020)
   PUBMED   32102525
  REMARK    GeneRIF: Assessment of Serum CoQ10 Levels and other Antioxidant
            Markers in Breast Cancer.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1570)
  AUTHORS   Young,J.M., Molyneux,S.L., Reinheimer,A.M., Florkowski,C.M.,
            Frampton,C.M., Scott,R.S. and George,P.M.
  TITLE     Relationship between plasma coenzyme Q10, asymmetric
            dimethylarginine and arterial stiffness in patients with phenotypic
            or genotypic familial hypercholesterolemia on long-term statin
            therapy
  JOURNAL   Atherosclerosis 218 (1), 188-193 (2011)
   PUBMED   21640350
  REMARK    GeneRIF: plasma coenzyme Q10, asymmetric dimethylarginine and
            arterial stiffness in patients have a role in phenotypic or
            genotypic familial hypercholesterolemia with long-term statin
            therapy
REFERENCE   7  (bases 1 to 1570)
  AUTHORS   Toyama,K., Sugiyama,S., Oka,H., Iwasaki,Y., Sumida,H., Tanaka,T.,
            Tayama,S., Jinnouchi,H., Matsui,K. and Ogawa,H.
  TITLE     Rosuvastatin combined with regular exercise preserves coenzyme Q10
            levels associated with a significant increase in high-density
            lipoprotein cholesterol in patients with coronary artery disease
  JOURNAL   Atherosclerosis 217 (1), 158-164 (2011)
   PUBMED   21458815
  REMARK    GeneRIF: Rosuvastatin combined with regular exercise preserves
            coenzyme Q10 levels associated with a significant increase in
            high-density lipoprotein cholesterol in patients with coronary
            artery disease
REFERENCE   8  (bases 1 to 1570)
  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   9  (bases 1 to 1570)
  AUTHORS   Kurban,S. and Mehmetoglu,I.
  TITLE     Effects of acetylsalicylic acid on serum paraoxonase activity,
            Ox-LDL, coenzyme Q10 and other oxidative stress markers in healthy
            volunteers
  JOURNAL   Clin Biochem 43 (3), 287-290 (2010)
   PUBMED   19891963
  REMARK    GeneRIF: Results show no significant differences in paraoxonase,
            oxLDL, or other oxidative stress markers after 2 months of
            acetylsalicylic acid treatment.
REFERENCE   10 (bases 1 to 1570)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB271789.1 and BC073923.1.
            
            On Jun 2, 2019 this sequence version replaced NM_144576.3.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            
            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 :: BC073923.1, AK057003.1 [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                 :: ENST00000308197.10/
                                                  ENSP00000312587.5
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-32                DB271789.1         85-116
            33-1570             BC073923.1         1-1538
FEATURES             Location/Qualifiers
     source          1..1570
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.3"
     gene            1..1570
                     /gene="COQ10A"
                     /note="coenzyme Q10A"
                     /db_xref="GeneID:93058"
                     /db_xref="HGNC:HGNC:26515"
                     /db_xref="MIM:620736"
     exon            1..311
                     /gene="COQ10A"
                     /inference="alignment:Splign:2.1.0"
     CDS             178..921
                     /gene="COQ10A"
                     /note="isoform a is encoded by transcript variant 1;
                     coenzyme Q-binding protein COQ10 homolog A, mitochondrial;
                     coenzyme Q10 homolog A"
                     /codon_start=1
                     /product="coenzyme Q-binding protein COQ10 homolog A,
                     mitochondrial isoform a"
                     /protein_id="NP_653177.3"
                     /db_xref="CCDS:CCDS41796.1"
                     /db_xref="GeneID:93058"
                     /db_xref="HGNC:HGNC:26515"
                     /db_xref="MIM:620736"
                     /translation="MAWAGSRRVPAGTRAAAERCCRLSLSPGAQPAPPPGPLPPPRPM
                     RFLTSCSLLLPRAAQILAAEAGLPSSRSFMGFAAPFTNKRKAYSERRIMGYSMQEMYE
                     VVSNVQEYREFVPWCKKSLVVSSRKGHLKAQLEVGFPPVMERYTSAVSMVKPHMVKAV
                     CTDGKLFNHLETIWRFSPGIPAYPRTCTVDFSISFEFRSLLHSQLATMFFDEVVKQNV
                     AAFERRAATKFGPETAIPRELMFHEVHQT"
     exon            312..458
                     /gene="COQ10A"
                     /inference="alignment:Splign:2.1.0"
     exon            459..651
                     /gene="COQ10A"
                     /inference="alignment:Splign:2.1.0"
     exon            652..753
                     /gene="COQ10A"
                     /inference="alignment:Splign:2.1.0"
     exon            754..1570
                     /gene="COQ10A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1550..1555
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COQ10A"
                     /note="hexamer: AATAAA"
     polyA_site      1570
                     /gene="COQ10A"
                     /note="major polyA site"
ORIGIN      
        1 agttctagcc tacccggcag cctggacggg agcaaggcga gaggtgctgc cgcctcccgt
       61 cgcccctgcg ctcagaggtc ccgaaccagc ccagccgctg cctcttgccg ctccgccttt
      121 ggagtgagga gggcgcagcc cgcgtcagaa cttagagggc caggcagggt cgcgcgcatg
      181 gcctgggcgg gctcgcggcg ggtcccagct gggacgcgcg cggcagccga gcgctgctgc
      241 cggctctcgc tcagcccggg cgcgcaaccg gccccgcccc caggccctct gccaccgccg
      301 cgaccaatga ggtttctgac ctcctgcagc ctcctcttgc ctcgggctgc ccagatcttg
      361 gcggctgagg ctggcttacc ttcgagccgt tccttcatgg gatttgctgc tcccttcacc
      421 aacaagcgaa aggcttactc ggagcgtaga atcatggggt actcaatgca ggagatgtat
      481 gaggtggtgt ccaacgtcca ggagtatcgt gagtttgtgc cctggtgtaa gaagtctctg
      541 gtggtatcca gccgtaaggg tcatttgaaa gcccagctgg aggttggctt tccacctgtc
      601 atggaacgtt acacctctgc agtttccatg gtcaaacctc acatggtcaa ggctgtttgt
      661 actgatggca agctcttcaa ccacttagag actatttggc gattcagccc tggtattcct
      721 gcctatcctc gaacctgcac tgtggacttt tcgatttcct ttgaatttcg ttctctgctg
      781 cactcccagc tggccaccat gttttttgat gaggttgtca aacagaatgt tgctgccttt
      841 gagcgtcggg cagccaccaa gtttggtcca gaaacagcca tcccccgtga actgatgttc
      901 catgaggtgc accagacttg aggcaaggga ttgctccctg acctcccttc taccccactt
      961 ccctacacaa ttctcttatt tatttggttt ggctcctgtt ccaatttgaa aggagtctgt
     1021 gttcataata ctgtttctcc tctcaatttc ccagaaattg ggttctatgc tggctggaaa
     1081 tgttggggga aagagaaggc aaaggatgtg gaaatgagat gtgcttagga aagggtcagg
     1141 cccatcgtag gagcaccata tgcctgcagc cttttcacta cgaattagaa taaggactat
     1201 gtggttgtct ctggacctta tcaagacacc ttagtgtctg accaggggac gatagtaact
     1261 tttctaagga ttgaataaat tgagcttttc ttctggcaca gaggtactga gtggtaagta
     1321 acttttaccc tgcctgagat tcctcaggag aaaaggcaac ctgcctccag cctgaaatac
     1381 ataaagcctc attttaagac tgtaagtcca tgctgcctgg ctactagaga gcaaggggct
     1441 ttcttaccac cagtgctgag gagaaaagta ctgaacggaa acggagttgt ctttgtactc
     1501 ttgagttgta ccttattctt ccacttggcc tgagttttta taaaatttca ataaattgtg
     1561 acagtgtgaa
//
