LOCUS       NM_016138               2642 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens coenzyme Q7, hydroxylase (COQ7), transcript variant 1,
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_016138
VERSION     NM_016138.5
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 2642)
  AUTHORS   Pettenuzzo,I., Carli,S., Sanchez-Cuesta,A., Isidori,F.,
            Montanari,F., Grippa,M., Lanzoni,G., Ambrosetti,I., Di Pisa,V.,
            Cordelli,D.M., Mondardini,M.C., Pippucci,T., Ragni,L., Cenacchi,G.,
            Costa,R., Lima,M., Capristo,M.A., Tropeano,C.V., Caporali,L.,
            Carelli,V., Brunelli,E., Maffei,M., Ahmed Sheikhmaye,H., Fetta,A.,
            Brea-Calvo,G. and Garone,C.
  TITLE     COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency
            with cardiomyopathy and gastrointestinal obstruction
  JOURNAL   Eur J Hum Genet 32 (8), 938-946 (2024)
   PUBMED   38702428
  REMARK    GeneRIF: COQ7 defect causes prenatal onset of mitochondrial CoQ10
            deficiency with cardiomyopathy and gastrointestinal obstruction.
REFERENCE   2  (bases 1 to 2642)
  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 2642)
  AUTHORS   Rebelo,A.P., Tomaselli,P.J., Medina,J., Wang,Y., Dohrn,M.F.,
            Nyvltova,E., Danzi,M.C., Garrett,M., Smith,S.E., Pestronk,A.,
            Li,C., Ruiz,A., Jacobs,E., Feely,S.M.E., Franca,M.C., Gomes,M.V.,
            Santos,D.F., Kumar,S., Lombard,D.B., Saporta,M., Hekimi,S.,
            Barrientos,A., Weihl,C., Shy,M.E., Marques,W. and Zuchner,S.
  TITLE     Biallelic variants in COQ7 cause distal hereditary motor neuropathy
            with upper motor neuron signs
  JOURNAL   Brain 146 (10), 4191-4199 (2023)
   PUBMED   37170631
  REMARK    GeneRIF: Biallelic variants in COQ7 cause distal hereditary motor
            neuropathy with upper motor neuron signs.
REFERENCE   4  (bases 1 to 2642)
  AUTHORS   Wongkittichote,P., Duque Lasio,M.L., Magistrati,M., Pathak,S.,
            Sample,B., Carvalho,D.R., Ortega,A.B., Castro,M.A.A., de
            Gusmao,C.M., Toler,T.L., Bellacchio,E., Dallabona,C. and Shinawi,M.
  TITLE     Phenotypic, molecular, and functional characterization of
            COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two
            distinct disease entities
  JOURNAL   Mol Genet Metab 139 (4), 107630 (2023)
   PUBMED   37392700
  REMARK    GeneRIF: Phenotypic, molecular, and functional characterization of
            COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two
            distinct disease entities.
REFERENCE   5  (bases 1 to 2642)
  AUTHORS   Sadr,Z., Zare-Abdollahi,D., Rohani,M. and Alavi,A.
  TITLE     A founder mutation in COQ7, p.(Leu111Pro), causes pure hereditary
            spastic paraplegia (HSP) in the Iranian population
  JOURNAL   Neurol Sci 44 (7), 2599-2602 (2023)
   PUBMED   36854932
  REMARK    GeneRIF: A founder mutation in COQ7, p.(Leu111Pro), causes pure
            hereditary spastic paraplegia (HSP) in the Iranian population.
REFERENCE   6  (bases 1 to 2642)
  AUTHORS   Asaumi,S., Kuroyanagi,H., Seki,N. and Shirasawa,T.
  TITLE     Orthologues of the Caenorhabditis elegans longevity gene clk-1 in
            mouse and human
  JOURNAL   Genomics 58 (3), 293-301 (1999)
   PUBMED   10373327
REFERENCE   7  (bases 1 to 2642)
  AUTHORS   Freije,J.M., Blay,P., Pendas,A.M., Cadinanos,J., Crespo,P. and
            Lopez-Otin,C.
  TITLE     Identification and chromosomal location of two human genes encoding
            enzymes potentially involved in proteolytic maturation of
            farnesylated proteins
  JOURNAL   Genomics 58 (3), 270-280 (1999)
   PUBMED   10373325
REFERENCE   8  (bases 1 to 2642)
  AUTHORS   Jonassen,T., Proft,M., Randez-Gil,F., Schultz,J.R., Marbois,B.N.,
            Entian,K.D. and Clarke,C.F.
  TITLE     Yeast Clk-1 homologue (Coq7/Cat5) is a mitochondrial protein in
            coenzyme Q synthesis
  JOURNAL   J Biol Chem 273 (6), 3351-3357 (1998)
   PUBMED   9452453
REFERENCE   9  (bases 1 to 2642)
  AUTHORS   Ewbank,J.J., Barnes,T.M., Lakowski,B., Lussier,M., Bussey,H. and
            Hekimi,S.
  TITLE     Structural and functional conservation of the Caenorhabditis
            elegans timing gene clk-1
  JOURNAL   Science 275 (5302), 980-983 (1997)
   PUBMED   9020081
REFERENCE   10 (bases 1 to 2642)
  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 AC099518.3, AK024291.1 and
            AI424412.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_016138.4.
            
            Summary: The protein encoded by this gene is similar to a
            mitochondrial di-iron containing hydroxylase in Saccharomyces
            cerevisiae that is involved with ubiquinone biosynthesis. Mutations
            in the yeast gene lead to slower development and longer life span.
            Alternatively spliced transcript variants have been found for this
            gene. [provided by RefSeq, Jul 2010].
            
            Transcript Variant: This variant (1) 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 :: SRR1660805.156756.1,
                                           SRR1803613.54981.1 [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                 :: ENST00000321998.10/
                                                  ENSP00000322316.5
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-124               AC099518.3         135779-135902
            125-303             AC099518.3         140093-140271
            304-418             AC099518.3         142086-142200
            419-558             AC099518.3         143886-144025
            559-627             AC099518.3         145471-145539
            628-1775            AC099518.3         146246-147393
            1776-2569           AK024291.1         1776-2569
            2570-2642           AI424412.1         7-79                c
FEATURES             Location/Qualifiers
     source          1..2642
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.3"
     gene            1..2642
                     /gene="COQ7"
                     /gene_synonym="CAT5; CLK-1; CLK1; COQ10D8; HMNR9"
                     /note="coenzyme Q7, hydroxylase"
                     /db_xref="GeneID:10229"
                     /db_xref="HGNC:HGNC:2244"
                     /db_xref="MIM:601683"
     exon            1..124
                     /gene="COQ7"
                     /gene_synonym="CAT5; CLK-1; CLK1; COQ10D8; HMNR9"
                     /inference="alignment:Splign:2.1.0"
     CDS             52..705
                     /gene="COQ7"
                     /gene_synonym="CAT5; CLK-1; CLK1; COQ10D8; HMNR9"
                     /EC_number="1.14.99.60"
                     /note="isoform 1 is encoded by transcript variant 1;
                     placental protein KG-20; ubiquinone biosynthesis protein
                     COQ7 homolog; timing protein clk-1 homolog; coenzyme Q7
                     homolog, ubiquinone; coenzyme Q biosynthesis protein 7
                     homolog; DMQ hydroxylase; ubiquinone biosynthesis
                     monooxygenase COQ7; 5-demethoxyubiquinone hydroxylase,
                     mitochondrial; COQ7 coenzyme Q, 7 homolog ubiquinone"
                     /codon_start=1
                     /product="5-demethoxyubiquinone hydroxylase, mitochondrial
                     isoform 1"
                     /protein_id="NP_057222.2"
                     /db_xref="CCDS:CCDS10574.1"
                     /db_xref="GeneID:10229"
                     /db_xref="HGNC:HGNC:2244"
                     /db_xref="MIM:601683"
                     /translation="MSCAGAAAAPRLWRLRPGARRSLSAYGRRTSVRFRSSGMTLDNI
                     SRAAVDRIIRVDHAGEYGANRIYAGQMAVLGRTSVGPVIQKMWDQEKDHLKKFNELMV
                     TFRVRPTVLMPLWNVLGFALGAGTALLGKEGAMACTVAVEESIAHHYNNQIRTLMEED
                     PEKYEELLQLIKKFRDEELEHHDIGLDHDAELAPAYAVLKSIIQAGCRVAIYLSERL"
     exon            125..303
                     /gene="COQ7"
                     /gene_synonym="CAT5; CLK-1; CLK1; COQ10D8; HMNR9"
                     /inference="alignment:Splign:2.1.0"
     exon            304..418
                     /gene="COQ7"
                     /gene_synonym="CAT5; CLK-1; CLK1; COQ10D8; HMNR9"
                     /inference="alignment:Splign:2.1.0"
     exon            419..558
                     /gene="COQ7"
                     /gene_synonym="CAT5; CLK-1; CLK1; COQ10D8; HMNR9"
                     /inference="alignment:Splign:2.1.0"
     exon            559..627
                     /gene="COQ7"
                     /gene_synonym="CAT5; CLK-1; CLK1; COQ10D8; HMNR9"
                     /inference="alignment:Splign:2.1.0"
     exon            628..2642
                     /gene="COQ7"
                     /gene_synonym="CAT5; CLK-1; CLK1; COQ10D8; HMNR9"
                     /inference="alignment:Splign:2.1.0"
     regulatory      823..828
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COQ7"
                     /gene_synonym="CAT5; CLK-1; CLK1; COQ10D8; HMNR9"
                     /note="hexamer: ATTATA"
     polyA_site      851
                     /gene="COQ7"
                     /gene_synonym="CAT5; CLK-1; CLK1; COQ10D8; HMNR9"
                     /note="major polyA site"
     regulatory      1784..1789
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COQ7"
                     /gene_synonym="CAT5; CLK-1; CLK1; COQ10D8; HMNR9"
                     /note="hexamer: AATAAA"
     polyA_site      1809
                     /gene="COQ7"
                     /gene_synonym="CAT5; CLK-1; CLK1; COQ10D8; HMNR9"
                     /note="major polyA site"
     regulatory      2541..2546
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COQ7"
                     /gene_synonym="CAT5; CLK-1; CLK1; COQ10D8; HMNR9"
                     /note="hexamer: AATAAA"
     polyA_site      2579
                     /gene="COQ7"
                     /gene_synonym="CAT5; CLK-1; CLK1; COQ10D8; HMNR9"
                     /note="major polyA site"
     regulatory      2616..2621
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COQ7"
                     /gene_synonym="CAT5; CLK-1; CLK1; COQ10D8; HMNR9"
                     /note="hexamer: AATAAA"
     polyA_site      2642
                     /gene="COQ7"
                     /gene_synonym="CAT5; CLK-1; CLK1; COQ10D8; HMNR9"
ORIGIN      
        1 actattggcc agttccgttc aacgaagtgg ttgctttttt tagttccggc aatgagttgc
       61 gccggggcgg cggcggctcc ccgcctttgg cggctgcgcc cgggggcccg gcggtccctc
      121 tcagcttatg gaagaagaac cagtgtcaga tttcgcagtt caggaatgac tttagacaat
      181 atcagtcggg cagctgtgga tcgaataatc cgggtggatc atgcaggcga atatggagca
      241 aaccgcatct atgccgggca gatggctgtc ctgggtcgga ccagcgtcgg gccagtcatt
      301 cagaaaatgt gggatcaaga aaaggaccat ttgaaaaagt tcaatgagtt gatggttacg
      361 ttcagggtcc ggccaacagt tctgatgccc ttgtggaacg tgctggggtt tgcactgggg
      421 gcggggaccg ccttgctcgg gaaggaaggt gccatggcct gcaccgtggc ggtggaagag
      481 agcatagcac atcactacaa caaccagatc aggacgctga tggaggagga ccctgaaaaa
      541 tacgaggaac ttcttcagct gataaagaaa tttcgggatg aagagcttga gcaccatgac
      601 ataggcctcg accatgatgc agaattggct ccagcctatg ccgtcctgaa gagcattatc
      661 caggccggat gcagagtggc gatatattta tcagaaagat tataaagtgt gtccagtttt
      721 gcctgtctat aaaagatgat agtaatttac caagtgacat ttgcagagaa acaggtgtac
      781 agttatcgtt gtacttttgt acaatgtgaa ttttgttaat aaattataag gtttgttttt
      841 ttttttttaa actctgcagt gttgattttt ctctgggttg ttttttctgc catgagacca
      901 acaggtcacc agccttgttc aagttacagc aaacgaagct gggccttgtt tggtctcata
      961 cttaattttc ttttatatac atgtttttct tttacatgca tatatatata ttttatttta
     1021 ttttatgttt tttggagaca gggcctcgct cttttgtcca ggccgggtca caactcactg
     1081 cagcctggac ctcctagcct caagcaatcc acccacctca gccttccaag tagctgggac
     1141 tacaggtgtg caccaccaca gctggctaat tctatttttt tatagaggcg aagtctcact
     1201 atgtcgccag gctggtctct aactcctggg ctcagtgatc ctcccgtttc gacttcccaa
     1261 agtgctggga ttacaggtgt gagccacttc accaggccca ttttctccta aaacttcaag
     1321 gacaaatcat taataatgta acaggaatct ttaggagaaa aaacaatttg gtttactgat
     1381 aacaaaagat aattggaaac atgagagtat ttgagattgg ccaagcagaa ctatgaagtc
     1441 catcaagtaa gtcaaagatc atcgtttctg ttttgaattg tgggtgataa tgggtgggag
     1501 agtgctacag tctgtatgtc tgtgtctccc tagaattcat acgatgaaat cttcactctc
     1561 aagttgatag aaggtggggc ccttgggaag tgtgaggtca tgagagtgga gccctcatga
     1621 atgggatcag tgccttatga aaggccctag agagatacct catcctctcc acagtgtgag
     1681 acttcaaggg gaagtatgag acttctctga ggaagcagac ccttcacaag caaaatcagc
     1741 cagcactttg atcacggact tcccagcctc taggactgtg agcaataaat gtttgatgtt
     1801 tataagccac ccagactgtg gtattttgtt atagcagcct gaacagacta agacgggggt
     1861 gttgcttcca tcaaaggatg tactaagttg tggattattt gtgaaattga attacaacct
     1921 tttccttaag gtcttttacc acctcccccc caaaaaaatc ccccaaaact gattcagatt
     1981 ttcatacttt aatgaaatat tttataattt gcaaattttt aagtaattta tgaaaaacct
     2041 agatcagtgg atctcctctc tggctgccca ttagaatgtc ctgtggagat taaacttttt
     2101 tttttcagtt tatggaccaa gagttttgat ttatttaggg tggagttcag gatcagaatg
     2161 gtttcagaag ctcccaggtg attccggagt gagttggagc tgcaagcccc tgagctagat
     2221 tataagatgc ttctgggaaa gaaccacatt ttaggaattt gcttcccacc cagtgccctg
     2281 catttaatca gcacctgatg acttggcagg acttgcccca ccagggtctg gctttgaagg
     2341 gtagtggaca ccaggatcct ttggattaat cctctgccac ctctctcttt tcctcaaccg
     2401 agagtgaatt tatgtaattg agtgaaagtc tacgaatcat aattgtaata aattaaggct
     2461 gggcatttgt ttgaaattag ataggataaa gccaaaggtt tgaacaagtt gtggatggtt
     2521 tgtaaaaatt aatcttacaa aataaatgct gtgtgtgaac acgttgatta aattcaaaag
     2581 ggtattattt ggtttttctg taaattgaac cttgaaataa aagcacaaca aggttttctt
     2641 aa
//
