LOCUS       NM_020312               1630 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens coenzyme Q9 (COQ9), mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_020312 XM_166276
VERSION     NM_020312.4
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 1630)
  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 1630)
  AUTHORS   Manicki,M., Aydin,H., Abriata,L.A., Overmyer,K.A., Guerra,R.M.,
            Coon,J.J., Dal Peraro,M., Frost,A. and Pagliarini,D.J.
  TITLE     Structure and functionality of a multimeric human COQ7:COQ9 complex
  JOURNAL   Mol Cell 82 (22), 4307-4323 (2022)
   PUBMED   36306796
  REMARK    GeneRIF: Structure and functionality of a multimeric human
            COQ7:COQ9 complex.
REFERENCE   3  (bases 1 to 1630)
  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 1630)
  AUTHORS   Li,M., Thorne,R.F., Shi,R., Zhang,X.D., Li,J., Li,J., Zhang,Q.,
            Wu,M. and Liu,L.
  TITLE     DDIT3 Directs a Dual Mechanism to Balance Glycolysis and Oxidative
            Phosphorylation during Glutamine Deprivation
  JOURNAL   Adv Sci (Weinh) 8 (11), e2003732 (2021)
   PUBMED   34105294
  REMARK    GeneRIF: DDIT3 Directs a Dual Mechanism to Balance Glycolysis and
            Oxidative Phosphorylation during Glutamine Deprivation.
REFERENCE   5  (bases 1 to 1630)
  AUTHORS   Zhao,X., Leon,I.R., Bak,S., Mogensen,M., Wrzesinski,K., Hojlund,K.
            and Jensen,O.N.
  TITLE     Phosphoproteome analysis of functional mitochondria isolated from
            resting human muscle reveals extensive phosphorylation of inner
            membrane protein complexes and enzymes
  JOURNAL   Mol Cell Proteomics 10 (1), M110.000299 (2011)
   PUBMED   20833797
REFERENCE   6  (bases 1 to 1630)
  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   7  (bases 1 to 1630)
  AUTHORS   Duncan,A.J., Bitner-Glindzicz,M., Meunier,B., Costello,H.,
            Hargreaves,I.P., Lopez,L.C., Hirano,M., Quinzii,C.M.,
            Sadowski,M.I., Hardy,J., Singleton,A., Clayton,P.T. and Rahman,S.
  TITLE     A nonsense mutation in COQ9 causes autosomal-recessive
            neonatal-onset primary coenzyme Q10 deficiency: a potentially
            treatable form of mitochondrial disease
  JOURNAL   Am J Hum Genet 84 (5), 558-566 (2009)
   PUBMED   19375058
  REMARK    GeneRIF: There is a homozygous stop mutation affecting a highly
            conserved residue of COQ9, leading to the truncation of 75 amino
            acids.
REFERENCE   8  (bases 1 to 1630)
  AUTHORS   Loftus,B.J., Kim,U.J., Sneddon,V.P., Kalush,F., Brandon,R.,
            Fuhrmann,J., Mason,T., Crosby,M.L., Barnstead,M., Cronin,L.,
            Deslattes Mays,A., Cao,Y., Xu,R.X., Kang,H.L., Mitchell,S.,
            Eichler,E.E., Harris,P.C., Venter,J.C. and Adams,M.D.
  TITLE     Genome duplications and other features in 12 Mb of DNA sequence
            from human chromosome 16p and 16q
  JOURNAL   Genomics 60 (3), 295-308 (1999)
   PUBMED   10493829
REFERENCE   9  (bases 1 to 1630)
  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
REFERENCE   10 (bases 1 to 1630)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK075438.1, BC064946.1,
            DB513313.1 and BM680448.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_020312.3.
            
            Summary: This locus represents a mitochondrial ubiquinone
            biosynthesis gene. The encoded protein is likely necessary for
            biosynthesis of coenzyme Q10, as mutations at this locus have been
            associated with autosomal-recessive neonatal-onset primary coenzyme
            Q10 deficiency.[provided by RefSeq, Sep 2010].
            
            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 :: SRR3476690.227886.1,
                                           SRR5189655.7713.1 [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                 :: ENST00000262507.11/
                                                  ENSP00000262507.5
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                AK075438.1         56-66
            12-1473             BC064946.1         1-1462
            1474-1474           DB513313.1         281-281
            1475-1630           BM680448.1         23-178              c
FEATURES             Location/Qualifiers
     source          1..1630
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q21"
     gene            1..1630
                     /gene="COQ9"
                     /gene_synonym="C16orf49; COQ10D5"
                     /note="coenzyme Q9"
                     /db_xref="GeneID:57017"
                     /db_xref="HGNC:HGNC:25302"
                     /db_xref="MIM:612837"
     exon            1..100
                     /gene="COQ9"
                     /gene_synonym="C16orf49; COQ10D5"
                     /inference="alignment:Splign:2.1.0"
     CDS             28..984
                     /gene="COQ9"
                     /gene_synonym="C16orf49; COQ10D5"
                     /note="ubiquinone biosynthesis protein COQ9,
                     mitochondrial; coenzyme Q9 homolog"
                     /codon_start=1
                     /product="ubiquinone biosynthesis protein COQ9,
                     mitochondrial precursor"
                     /protein_id="NP_064708.1"
                     /db_xref="CCDS:CCDS32459.1"
                     /db_xref="GeneID:57017"
                     /db_xref="HGNC:HGNC:25302"
                     /db_xref="MIM:612837"
                     /translation="MAAAAVSGALGRAGWRLLQLRCLPVARCRQALVPRAFHASAVGL
                     RSSDEQKQQPPNSFSQQHSETQGAEKPDPESSHSPPRYTDQGGEEEEDYESEEQLQHR
                     ILTAALEFVPAHGWTAEAIAEGAQSLGLSSAAASMFGKDGSELILHFVTQCNTRLTRV
                     LEEEQKLVQLGQAEKRKTDQFLRDAVETRLRMLIPYIEHWPRALSILMLPHNIPSSLS
                     LLTSMVDDMWHYAGDQSTDFNWYTRRAMLAAIYNTTELVMMQDSSPDFEDTWRFLENR
                     VNDAMNMGHTAKQVKSTGEALVQGLMGAAVTLKNLTGLNQRR"
     exon            101..269
                     /gene="COQ9"
                     /gene_synonym="C16orf49; COQ10D5"
                     /inference="alignment:Splign:2.1.0"
     exon            270..405
                     /gene="COQ9"
                     /gene_synonym="C16orf49; COQ10D5"
                     /inference="alignment:Splign:2.1.0"
     exon            406..548
                     /gene="COQ9"
                     /gene_synonym="C16orf49; COQ10D5"
                     /inference="alignment:Splign:2.1.0"
     exon            549..633
                     /gene="COQ9"
                     /gene_synonym="C16orf49; COQ10D5"
                     /inference="alignment:Splign:2.1.0"
     exon            634..738
                     /gene="COQ9"
                     /gene_synonym="C16orf49; COQ10D5"
                     /inference="alignment:Splign:2.1.0"
     exon            739..894
                     /gene="COQ9"
                     /gene_synonym="C16orf49; COQ10D5"
                     /inference="alignment:Splign:2.1.0"
     exon            895..948
                     /gene="COQ9"
                     /gene_synonym="C16orf49; COQ10D5"
                     /inference="alignment:Splign:2.1.0"
     exon            949..1630
                     /gene="COQ9"
                     /gene_synonym="C16orf49; COQ10D5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1609..1614
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COQ9"
                     /gene_synonym="C16orf49; COQ10D5"
                     /note="hexamer: AATAAA"
     polyA_site      1630
                     /gene="COQ9"
                     /gene_synonym="C16orf49; COQ10D5"
                     /note="major polyA site"
ORIGIN      
        1 gccgtgggcg acgtgcccgc ttccaaaatg gcggcggcgg cggtatctgg tgcgcttggc
       61 cgggcgggct ggaggctcct gcagctgcga tgcctgcccg tggcccgttg ccgacaagcc
      121 ctggtgccgc gtgccttcca tgcttcagct gtggggctaa ggtcttcaga tgagcagaag
      181 cagcagcctc ccaactcatt ttctcagcag cattctgaga cacagggggc agaaaaacct
      241 gatccagagt cttctcattc accccccagg tatacagacc agggcggcga ggaggaggag
      301 gactatgaaa gtgaggagca gttgcagcac cgcatcctga cggcagccct tgagtttgtg
      361 cccgcccacg ggtggacagc agaggcgatt gcagaaggag cccagtctct gggtctctcc
      421 agtgcagcag ccagcatgtt cgggaaggat ggcagtgagc taatactgca ttttgtgacc
      481 cagtgcaata cccggctcac acgtgtgcta gaagaggagc agaagctggt acagttgggc
      541 caggcggaga agaggaagac agaccagttc ctgagggatg cagtggaaac cagactgaga
      601 atgctgatcc catacattga gcactggccc cgggccctca gcatcctcat gctccctcac
      661 aacatcccgt ccagcctgag cctgctcacc agcatggtgg atgacatgtg gcattacgct
      721 ggggaccagt ccactgattt taactggtac acccgccgag ccatgctggc tgccatctac
      781 aacacaacag agctggtgat gatgcaggac tcctctccag actttgagga cacttggcgc
      841 ttcctggaaa accgggttaa tgatgcaatg aacatgggcc acactgccaa gcaggtaaag
      901 tccacaggag aggcactggt gcaaggactc atgggtgcag cagtgacgct caagaacttg
      961 acaggtctaa accagcgtcg gtgagaggaa ggggtataag ctacaatgcc tagaagagaa
     1021 tgagcggaca gattgaaaga gctttgaaaa gtataaggtg ccatccacat aacctggtgt
     1081 tcacgagaac acactaaagg actcctgagt cactaccaca gccacctgga aaccacaagg
     1141 catttgatgc taccgttctg gtcagggatt gggctgcttc ttcagttcct aataccagac
     1201 caagcctcct gatgcctttc tgcactgcaa ctgtgtgatt gaaaaatgag atgttcatcc
     1261 aagcagtcaa gccacagaaa cccagcatgt ccctgtcaca atctcatggg caccttgatc
     1321 atgtcttaac cttcccttaa ccttggggct cccaagccag agtcaaggtc tgacgccacc
     1381 tcaaggtgac agctcatctc cagcacagca caggcgtgtg cacacagagg tgttccttgc
     1441 agccccctcc ctctcaggtg tcctgagatg ctgttcctgg gagccccctc agaaaactgc
     1501 ctcacctgag acaagtgcct gctggacaga ggtgtgattc caggcctggt gtcacatgac
     1561 accagcatgc attgcaggat tattagtgta ttttgagtct gtaaaaataa taaatatgtt
     1621 tgaagtagtt
//
