LOCUS       NP_872282                468 aa            linear   PRI 05-MAY-2025
DEFINITION  ubiquinone biosynthesis monooxygenase COQ6, mitochondrial isoform a
            [Homo sapiens].
ACCESSION   NP_872282 NP_057024
VERSION     NP_872282.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 468)
  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  (residues 1 to 468)
  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  (residues 1 to 468)
  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   4  (residues 1 to 468)
  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   5  (residues 1 to 468)
  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  (residues 1 to 468)
  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  (residues 1 to 468)
  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  (residues 1 to 468)
  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  (residues 1 to 468)
  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 (residues 1 to 468)
  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 Aug 13, 2003 this sequence version replaced NP_057024.1.
            
            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).
            
            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 :: 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##
FEATURES             Location/Qualifiers
     source          1..468
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.3"
     Protein         1..468
                     /product="ubiquinone biosynthesis monooxygenase COQ6,
                     mitochondrial isoform a"
                     /EC_number="1.14.13.-"
                     /note="coenzyme Q10 monooxygenase 6; coenzyme Q6 homolog,
                     monooxygenase; ubiquinone biosynthesis monooxygenase COQ6,
                     mitochondrial; 2-methoxy-6-polyprenolphenol 4-hydroxylase"
                     /calculated_mol_wt=47810
     transit_peptide 1..28
                     /note="Mitochondrion. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (Q9Y2Z9.2)"
                     /calculated_mol_wt=3079
     mat_peptide     29..468
                     /product="Ubiquinone biosynthesis monooxygenase COQ6,
                     mitochondrial. /id=PRO_0000207583"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2Z9.2)"
                     /calculated_mol_wt=47810
     Region          48..463
                     /region_name="COQ6"
                     /note="ubiquinone biosynthesis monooxygenase COQ6;
                     TIGR01989"
                     /db_xref="CDD:273914"
     CDS             1..468
                     /gene="COQ6"
                     /gene_synonym="CGI-10; CGI10; COQ10D6"
                     /coded_by="NM_182476.3:32..1438"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS9823.1"
                     /db_xref="GeneID:51004"
                     /db_xref="HGNC:HGNC:20233"
                     /db_xref="MIM:614647"
ORIGIN      
        1 maarlvsrcg avraaphsgp lvswrrwsga stdtvydvvv sggglvgaam acalgydihf
       61 hdkkilllea gpkkvlekls etysnrvssi spgsatllss fgawdhicnm ryrafrrmqv
      121 wdacsealim fdkdnlddmg yivendvimh altkqleavs drvtvlyrsk airytwpcpf
      181 pmadsspwvh itlgdgstfq tklligadgh nsgvrqavgi qnvswnydqs avvatlhlse
      241 atennvawqr flpsgpiall plsdtlsslv wstshehaae lvsmdeekfv davnsafwsd
      301 adhtdfidta gamlqyavsl lkptkvsarq lppsvarvda ksrvlfplgl ghaaeyvrpr
      361 valigdaahr vhplagqgvn mgfgdissla hhlstaafng kdlgsvshlt gyeterqrhn
      421 tallaatdll krlystsasp lvllrtwglq atnavsplke qimafask
//
