LOCUS       NM_016035               1245 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens coenzyme Q4 (COQ4), transcript variant 1, mRNA;
            nuclear gene for mitochondrial product.
ACCESSION   NM_016035
VERSION     NM_016035.5
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 1245)
  AUTHORS   Pelosi,L., Morbiato,L., Burgardt,A., Tonello,F., Bartlett,A.K.,
            Guerra,R.M., Ferizhendi,K.K., Desbats,M.A., Rascalou,B., Marchi,M.,
            Vazquez-Fonseca,L., Agosto,C., Zanotti,G., Roger-Margueritat,M.,
            Alcazar-Fabra,M., Garcia-Corzo,L., Sanchez-Cuesta,A., Navas,P.,
            Brea-Calvo,G., Trevisson,E., Wendisch,V.F., Pagliarini,D.J.,
            Salviati,L. and Pierrel,F.
  TITLE     COQ4 is required for the oxidative decarboxylation of the C1 carbon
            of coenzyme Q in eukaryotic cells
  JOURNAL   Mol Cell 84 (5), 981-989 (2024)
   PUBMED   38295803
  REMARK    GeneRIF: COQ4 is required for the oxidative decarboxylation of the
            C1 carbon of coenzyme Q in eukaryotic cells.
REFERENCE   2  (bases 1 to 1245)
  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   3  (bases 1 to 1245)
  AUTHORS   Lin,X., Jiang,J.Y., Hong,D.J., Lin,K.J., Li,J.J., Chen,Y.J.,
            Qiu,Y.S., Wang,Z., Liao,Y.C., Yang,K., Shi,Y., Wang,M.W., Hsu,S.L.,
            Hong,S., Zeng,Y.H., Chen,X.C., Wang,N., Lee,Y.C. and Chen,W.J.
  TITLE     Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical
            and Molecular Characterization
  JOURNAL   Mov Disord 39 (1), 152-163 (2024)
   PUBMED   38014483
  REMARK    GeneRIF: Biallelic COQ4 Variants in Hereditary Spastic Paraplegia:
            Clinical and Molecular Characterization.
REFERENCE   4  (bases 1 to 1245)
  AUTHORS   Brea-Calvo,G., Haack,T.B., Karall,D., Ohtake,A., Invernizzi,F.,
            Carrozzo,R., Kremer,L., Dusi,S., Fauth,C., Scholl-Burgi,S.,
            Graf,E., Ahting,U., Resta,N., Laforgia,N., Verrigni,D., Okazaki,Y.,
            Kohda,M., Martinelli,D., Freisinger,P., Strom,T.M., Meitinger,T.,
            Lamperti,C., Lacson,A., Navas,P., Mayr,J.A., Bertini,E.,
            Murayama,K., Zeviani,M., Prokisch,H. and Ghezzi,D.
  TITLE     COQ4 mutations cause a broad spectrum of mitochondrial disorders
            associated with CoQ10 deficiency
  JOURNAL   Am J Hum Genet 96 (2), 309-317 (2015)
   PUBMED   25658047
  REMARK    GeneRIF: COQ4 mutations cause a broad spectrum of mitochondrial
            disorders associated with CoQ10 deficiency.
REFERENCE   5  (bases 1 to 1245)
  AUTHORS   Doimo,M., Desbats,M.A., Cerqua,C., Cassina,M., Trevisson,E. and
            Salviati,L.
  TITLE     Genetics of coenzyme q10 deficiency
  JOURNAL   Mol Syndromol 5 (3-4), 156-162 (2014)
   PUBMED   25126048
REFERENCE   6  (bases 1 to 1245)
  AUTHORS   Salviati,L., Trevisson,E., Rodriguez Hernandez,M.A., Casarin,A.,
            Pertegato,V., Doimo,M., Cassina,M., Agosto,C., Desbats,M.A.,
            Sartori,G., Sacconi,S., Memo,L., Zuffardi,O., Artuch,R.,
            Quinzii,C., Dimauro,S., Hirano,M., Santos-Ocana,C. and Navas,P.
  TITLE     Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency
  JOURNAL   J Med Genet 49 (3), 187-191 (2012)
   PUBMED   22368301
  REMARK    GeneRIF: Haploinsufficiency in COQ4 resulted in reduced COQ4
            expression, CoQ10 content and biosynthetic rate, and activities of
            respiratory chain complex II+III.
REFERENCE   7  (bases 1 to 1245)
  AUTHORS   Casarin,A., Jimenez-Ortega,J.C., Trevisson,E., Pertegato,V.,
            Doimo,M., Ferrero-Gomez,M.L., Abbadi,S., Artuch,R., Quinzii,C.,
            Hirano,M., Basso,G., Ocana,C.S., Navas,P. and Salviati,L.
  TITLE     Functional characterization of human COQ4, a gene required for
            Coenzyme Q10 biosynthesis
  JOURNAL   Biochem Biophys Res Commun 372 (1), 35-39 (2008)
   PUBMED   18474229
  REMARK    GeneRIF: Human ortholog of Saccharomyces cerevisiae COQ4 was cloned
            and characterized.
REFERENCE   8  (bases 1 to 1245)
  AUTHORS   Wang,A.G., Yoon,S.Y., Oh,J.H., Jeon,Y.J., Kim,M., Kim,J.M.,
            Byun,S.S., Yang,J.O., Kim,J.H., Kim,D.G., Yeom,Y.I., Yoo,H.S.,
            Kim,Y.S. and Kim,N.S.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   9  (bases 1 to 1245)
  AUTHORS   Belogrudov,G.I., Lee,P.T., Jonassen,T., Hsu,A.Y., Gin,P. and
            Clarke,C.F.
  TITLE     Yeast COQ4 encodes a mitochondrial protein required for coenzyme Q
            synthesis
  JOURNAL   Arch Biochem Biophys 392 (1), 48-58 (2001)
   PUBMED   11469793
  REMARK    GeneRIF: homologous to Coq4p in S.cerevisiae
REFERENCE   10 (bases 1 to 1245)
  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 AL359091.10.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_016035.4.
            
            Summary: This gene encodes a component of the coenzyme Q
            biosynthesis pathway. Coenzyme Q, an essential component of the
            electron transport chain, shuttles electrons between complexes I or
            II to complex III of the mitochondrial transport chain. This
            protein appears to play a structural role in stabilizing a complex
            that contains most of the coenzyme Q biosynthesis enzymes.
            Mutations in this gene are associated with mitochondrial disorders
            linked to coenzyme Q deficiency. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Apr 2015].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: BC011895.2, AK025376.1 [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                 :: ENST00000300452.8/
                                                  ENSP00000300452.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-90                AL359091.10        22035-22124
            91-222              AL359091.10        22212-22343
            223-319             AL359091.10        24339-24435
            320-422             AL359091.10        24975-25077
            423-552             AL359091.10        31349-31478
            553-646             AL359091.10        32046-32139
            647-1245            AL359091.10        32670-33268
FEATURES             Location/Qualifiers
     source          1..1245
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     gene            1..1245
                     /gene="COQ4"
                     /gene_synonym="CGI-92; COQ10D7; SPAX10"
                     /note="coenzyme Q4"
                     /db_xref="GeneID:51117"
                     /db_xref="HGNC:HGNC:19693"
                     /db_xref="MIM:612898"
     exon            1..90
                     /gene="COQ4"
                     /gene_synonym="CGI-92; COQ10D7; SPAX10"
                     /inference="alignment:Splign:2.1.0"
     CDS             21..818
                     /gene="COQ4"
                     /gene_synonym="CGI-92; COQ10D7; SPAX10"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; ubiquinone biosynthesis protein COQ4 homolog,
                     mitochondrial; coenzyme Q biosynthesis protein 4 homolog;
                     coenzyme Q4 homolog"
                     /codon_start=1
                     /product="ubiquinone biosynthesis protein COQ4 homolog,
                     mitochondrial isoform 1 precursor"
                     /protein_id="NP_057119.3"
                     /db_xref="CCDS:CCDS6898.1"
                     /db_xref="GeneID:51117"
                     /db_xref="HGNC:HGNC:19693"
                     /db_xref="MIM:612898"
                     /translation="MATLLRPVLRRLCGLPGLQRPAAEMPLRARSDGAGPLYSHHLPT
                     SPLQKGLLAAGSAAMALYNPYRHDMVAVLGETTGHRTLKVLRDQMRRDPEGAQILQER
                     PRISTSTLDLGKLQSLPEGSLGREYLRFLDVNRVSPDTRAPTRFVDDEELAYVIQRYR
                     EVHDMLHTLLGMPTNILGEIVVKWFEAVQTGLPMCILGAFFGPIRLGAQSLQVLVSEL
                     IPWAVQNGRRAPCVLNLYYERRWEQSLRALREELGITAPPMHVQGLA"
     exon            91..222
                     /gene="COQ4"
                     /gene_synonym="CGI-92; COQ10D7; SPAX10"
                     /inference="alignment:Splign:2.1.0"
     exon            223..319
                     /gene="COQ4"
                     /gene_synonym="CGI-92; COQ10D7; SPAX10"
                     /inference="alignment:Splign:2.1.0"
     exon            320..422
                     /gene="COQ4"
                     /gene_synonym="CGI-92; COQ10D7; SPAX10"
                     /inference="alignment:Splign:2.1.0"
     exon            423..552
                     /gene="COQ4"
                     /gene_synonym="CGI-92; COQ10D7; SPAX10"
                     /inference="alignment:Splign:2.1.0"
     exon            553..646
                     /gene="COQ4"
                     /gene_synonym="CGI-92; COQ10D7; SPAX10"
                     /inference="alignment:Splign:2.1.0"
     exon            647..1245
                     /gene="COQ4"
                     /gene_synonym="CGI-92; COQ10D7; SPAX10"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1223..1228
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COQ4"
                     /gene_synonym="CGI-92; COQ10D7; SPAX10"
                     /note="hexamer: AATAAA"
     polyA_site      1245
                     /gene="COQ4"
                     /gene_synonym="CGI-92; COQ10D7; SPAX10"
                     /note="major polyA site"
ORIGIN      
        1 ctccgcggac gcccgctgcc atggcgactc tgctgcgccc tgtcctccgt cggctctgcg
       61 ggctcccggg cctacagcgg cctgcggcag aaatgcccct ccgggctagg agcgacggcg
      121 ccggcccgct atactcgcac cacctcccca cctccccgct gcagaaaggg ctgttggccg
      181 ccggctccgc ggcgatggcg ctctataacc cctaccgcca cgacatggtc gcagttctag
      241 gggagaccac aggacaccgc accctgaagg tcctcaggga ccagatgagg agggatccag
      301 agggtgccca gatcctgcag gagcgtcccc ggatttcgac atccaccctc gacctgggca
      361 agctccagag cctgccggaa ggctccctcg gtcgcgagta tctccgtttc ctggatgtga
      421 acagggtctc cccagacacc cgagcaccca cccgcttcgt ggatgatgag gagctagcgt
      481 atgtgattca gcggtaccgg gaggtgcacg acatgcttca caccctgctg gggatgccca
      541 ccaacatcct gggggagatc gtggtgaaat ggtttgaggc tgtccagact ggcctgccca
      601 tgtgcatcct gggtgcattc tttggaccga tccgacttgg cgctcagagc ctgcaagtgc
      661 tggtctcgga gttgatccca tgggccgttc agaacgggcg cagagcccca tgtgtcctca
      721 acctgtacta tgagcggcgc tgggagcagt ccctgagggc tctgcgggag gagctgggca
      781 ttacagcacc acccatgcac gtccagggct tggcctgagc tcctgagcca gcggggcctg
      841 gcctacctcc cccatcccct gcttcccttg gaggcagagg gctcccttga ctacctttgt
      901 tcctcttctt tgaacactga cccttggaca acatttatca taatttgtca taaccactgc
      961 tgagtggcct tgaggacgaa ccccgcaggg agcaagcagt acagtggcat tcccaggggg
     1021 accagcagct acccaaggag aaccatgcat gaacagtatc agtcgtctgg gctcatgctg
     1081 ggatgtcgca gtgctcctgt tgcaactcct cccagccagc caggtttgct gggggccagg
     1141 ctgggtgtcc tcacaggagt gagggctaca cccaattcca aaagcctgag aagagagaag
     1201 tggaggggga ggcgagtgtg tgaataaagg ctcccatcag gtcaa
//
