LOCUS       NM_020247               2866 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens coenzyme Q8A (COQ8A), mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_020247 XR_110845
VERSION     NM_020247.5
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 2866)
  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   2  (bases 1 to 2866)
  AUTHORS   Zhang,H., Cao,X., Tang,M., Zhong,G., Si,Y., Li,H., Zhu,F., Liao,Q.,
            Li,L., Zhao,J., Feng,J., Li,S., Wang,C., Kaulich,M., Wang,F.,
            Chen,L., Li,L., Xia,Z., Liang,T., Lu,H., Feng,X.H. and Zhao,B.
  TITLE     A subcellular map of the human kinome
  JOURNAL   Elife 10, e64943 (2021)
   PUBMED   33988507
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2866)
  AUTHORS   Uccella,S., Pisciotta,L., Severino,M., Bertini,E., Giacomini,T.,
            Zanni,G., Prato,G., De Grandis,E., Nobili,L. and Mancardi,M.M.
  TITLE     Photoparoxysmal response in ADCK3 autosomal recessive ataxia: a
            case report and literature review
  JOURNAL   Epileptic Disord 23 (1), 153-160 (2021)
   PUBMED   33622667
  REMARK    GeneRIF: Photoparoxysmal response in ADCK3 autosomal recessive
            ataxia: a case report and literature review.
            Review article
REFERENCE   4  (bases 1 to 2866)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 2866)
  AUTHORS   Lagier-Tourenne,C., Tazir,M., Lopez,L.C., Quinzii,C.M., Assoum,M.,
            Drouot,N., Busso,C., Makri,S., Ali-Pacha,L., Benhassine,T.,
            Anheim,M., Lynch,D.R., Thibault,C., Plewniak,F., Bianchetti,L.,
            Tranchant,C., Poch,O., DiMauro,S., Mandel,J.L., Barros,M.H.,
            Hirano,M. and Koenig,M.
  TITLE     ADCK3, an ancestral kinase, is mutated in a form of recessive
            ataxia associated with coenzyme Q10 deficiency
  JOURNAL   Am J Hum Genet 82 (3), 661-672 (2008)
   PUBMED   18319074
  REMARK    GeneRIF: Five additional mutations in ADCK3 were found in three
            patients with sporadic ataxia, including one known to have CoQ10
            deficiency in muscle.
REFERENCE   6  (bases 1 to 2866)
  AUTHORS   Mollet,J., Delahodde,A., Serre,V., Chretien,D., Schlemmer,D.,
            Lombes,A., Boddaert,N., Desguerre,I., de Lonlay,P., de Baulny,H.O.,
            Munnich,A. and Rotig,A.
  TITLE     CABC1 gene mutations cause ubiquinone deficiency with cerebellar
            ataxia and seizures
  JOURNAL   Am J Hum Genet 82 (3), 623-630 (2008)
   PUBMED   18319072
  REMARK    GeneRIF: CABC1 gene mutations in four ubiquinone-deficient patients
            in three distinct families were reported.
REFERENCE   7  (bases 1 to 2866)
  AUTHORS   Wan,D., Gong,Y., Qin,W., Zhang,P., Li,J., Wei,L., Zhou,X., Li,H.,
            Qiu,X., Zhong,F., He,L., Yu,J., Yao,G., Jiang,H., Qian,L., Yu,Y.,
            Shu,H., Chen,X., Xu,H., Guo,M., Pan,Z., Chen,Y., Ge,C., Yang,S. and
            Gu,J.
  TITLE     Large-scale cDNA transfection screening for genes related to cancer
            development and progression
  JOURNAL   Proc Natl Acad Sci U S A 101 (44), 15724-15729 (2004)
   PUBMED   15498874
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 Dec 14:101(50):17565]
REFERENCE   8  (bases 1 to 2866)
  AUTHORS   Iiizumi,M., Arakawa,H., Mori,T., Ando,A. and Nakamura,Y.
  TITLE     Isolation of a novel gene, CABC1, encoding a mitochondrial protein
            that is highly homologous to yeast activity of bc1 complex
  JOURNAL   Cancer Res 62 (5), 1246-1250 (2002)
   PUBMED   11888884
  REMARK    GeneRIF: play an important role in mediating p53-inducible
            apoptosis through the mitochondrial pathway.
REFERENCE   9  (bases 1 to 2866)
  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 2866)
  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 BC005171.2, AK074693.1,
            AL353689.26 and AI888739.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_020247.4.
            
            Summary: This gene encodes a mitochondrial protein similar to yeast
            ABC1, which functions in an electron-transferring membrane protein
            complex in the respiratory chain. It is not related to the family
            of ABC transporter proteins. Expression of this gene is induced by
            the tumor suppressor p53 and in response to DNA damage, and
            inhibiting its expression partially suppresses p53-induced
            apoptosis. Alternatively spliced transcript variants have been
            found; however, their full-length nature has not been determined.
            [provided by RefSeq, Jul 2008].
            
            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 :: SRR3476690.902489.1, BC005171.2
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000366777.4/
                                                  ENSP00000355739.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1299              BC005171.2         7-1305
            1300-2522           AK074693.1         1300-2522
            2523-2826           AL353689.26        49387-49690
            2827-2866           AI888739.1         10-49               c
FEATURES             Location/Qualifiers
     source          1..2866
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42.13"
     gene            1..2866
                     /gene="COQ8A"
                     /gene_synonym="ADCK3; ARCA2; CABC1; COQ10D4; COQ8; SCAR9"
                     /note="coenzyme Q8A"
                     /db_xref="GeneID:56997"
                     /db_xref="HGNC:HGNC:16812"
                     /db_xref="MIM:606980"
     exon            1..106
                     /gene="COQ8A"
                     /gene_synonym="ADCK3; ARCA2; CABC1; COQ10D4; COQ8; SCAR9"
                     /inference="alignment:Splign:2.1.0"
     exon            107..292
                     /gene="COQ8A"
                     /gene_synonym="ADCK3; ARCA2; CABC1; COQ10D4; COQ8; SCAR9"
                     /inference="alignment:Splign:2.1.0"
     CDS             116..2059
                     /gene="COQ8A"
                     /gene_synonym="ADCK3; ARCA2; CABC1; COQ10D4; COQ8; SCAR9"
                     /note="coenzyme Q8 homolog; chaperone activity of bc1
                     complex-like, mitochondrial; aarF domain-containing
                     protein kinase 3; chaperone, ABC1 activity of bc1 complex
                     homolog; coenzyme Q protein 8A; atypical kinase ADCK3,
                     mitochondrial"
                     /codon_start=1
                     /product="atypical kinase COQ8A, mitochondrial"
                     /protein_id="NP_064632.2"
                     /db_xref="CCDS:CCDS1557.1"
                     /db_xref="GeneID:56997"
                     /db_xref="HGNC:HGNC:16812"
                     /db_xref="MIM:606980"
                     /translation="MAAILGDTIMVAKGLVKLTQAAVETHLQHLGIGGELIMAARALQ
                     STAVEQIGMFLGKVQGQDKHEEYFAENFGGPEGEFHFSVPHAAGASTDFSSASAPDQS
                     APPSLGHAHSEGPAPAYVASGPFREAGFPGQASSPLGRANGRLFANPRDSFSAMGFQR
                     RFFHQDQSPVGGLTAEDIEKARQAKARPENKQHKQTLSEHARERKVPVTRIGRLANFG
                     GLAVGLGFGALAEVAKKSLRSEDPSGKKAVLGSSPFLSEANAERIVRTLCKVRGAALK
                     LGQMLSIQDDAFINPHLAKIFERVRQSADFMPLKQMMKTLNNDLGPNWRDKLEYFEER
                     PFAAASIGQVHLARMKGGREVAMKIQYPGVAQSINSDVNNLMAVLNMSNMLPEGLFPE
                     HLIDVLRRELALECDYQREAACARKFRDLLKGHPFFYVPEIVDELCSPHVLTTELVSG
                     FPLDQAEGLSQEIRNEICYNILVLCLRELFEFHFMQTDPNWSNFFYDPQQHKVALLDF
                     GATREYDRSFTDLYIQIIRAAADRDRETVRAKSIEMKFLTGYEVKVMEDAHLDAILIL
                     GEAFASDEPFDFGTQSTTEKIHNLIPVMLRHRLVPPPEETYSLHRKMGGSFLICSKLK
                     ARFPCKAMFEEAYSNYCKRQAQQ"
     exon            293..703
                     /gene="COQ8A"
                     /gene_synonym="ADCK3; ARCA2; CABC1; COQ10D4; COQ8; SCAR9"
                     /inference="alignment:Splign:2.1.0"
     exon            704..770
                     /gene="COQ8A"
                     /gene_synonym="ADCK3; ARCA2; CABC1; COQ10D4; COQ8; SCAR9"
                     /inference="alignment:Splign:2.1.0"
     exon            771..845
                     /gene="COQ8A"
                     /gene_synonym="ADCK3; ARCA2; CABC1; COQ10D4; COQ8; SCAR9"
                     /inference="alignment:Splign:2.1.0"
     exon            846..968
                     /gene="COQ8A"
                     /gene_synonym="ADCK3; ARCA2; CABC1; COQ10D4; COQ8; SCAR9"
                     /inference="alignment:Splign:2.1.0"
     exon            969..1054
                     /gene="COQ8A"
                     /gene_synonym="ADCK3; ARCA2; CABC1; COQ10D4; COQ8; SCAR9"
                     /inference="alignment:Splign:2.1.0"
     exon            1055..1195
                     /gene="COQ8A"
                     /gene_synonym="ADCK3; ARCA2; CABC1; COQ10D4; COQ8; SCAR9"
                     /inference="alignment:Splign:2.1.0"
     exon            1196..1277
                     /gene="COQ8A"
                     /gene_synonym="ADCK3; ARCA2; CABC1; COQ10D4; COQ8; SCAR9"
                     /inference="alignment:Splign:2.1.0"
     exon            1278..1371
                     /gene="COQ8A"
                     /gene_synonym="ADCK3; ARCA2; CABC1; COQ10D4; COQ8; SCAR9"
                     /inference="alignment:Splign:2.1.0"
     exon            1372..1513
                     /gene="COQ8A"
                     /gene_synonym="ADCK3; ARCA2; CABC1; COQ10D4; COQ8; SCAR9"
                     /inference="alignment:Splign:2.1.0"
     exon            1514..1621
                     /gene="COQ8A"
                     /gene_synonym="ADCK3; ARCA2; CABC1; COQ10D4; COQ8; SCAR9"
                     /inference="alignment:Splign:2.1.0"
     exon            1622..1687
                     /gene="COQ8A"
                     /gene_synonym="ADCK3; ARCA2; CABC1; COQ10D4; COQ8; SCAR9"
                     /inference="alignment:Splign:2.1.0"
     exon            1688..1774
                     /gene="COQ8A"
                     /gene_synonym="ADCK3; ARCA2; CABC1; COQ10D4; COQ8; SCAR9"
                     /inference="alignment:Splign:2.1.0"
     exon            1775..2866
                     /gene="COQ8A"
                     /gene_synonym="ADCK3; ARCA2; CABC1; COQ10D4; COQ8; SCAR9"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2843..2848
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COQ8A"
                     /gene_synonym="ADCK3; ARCA2; CABC1; COQ10D4; COQ8; SCAR9"
                     /note="hexamer: AATAAA"
     polyA_site      2866
                     /gene="COQ8A"
                     /gene_synonym="ADCK3; ARCA2; CABC1; COQ10D4; COQ8; SCAR9"
                     /note="major polyA site"
ORIGIN      
        1 aaacagatcc ggagcgcgtg gcgggcgtca gcgcggtggc cagcgcgcag aggcgggcgc
       61 ggaggcggct agaaggtgac cgcggatccc agcttcctgc agccagccct gaaggatggc
      121 tgccatattg ggagacacca tcatggtggc taaaggcctt gtcaagctga cccaggcggc
      181 cgtggaaacc cacctgcagc acttgggcat cggaggggag ctgatcatgg cggccagggc
      241 cctgcagtcc acggctgtgg agcagattgg catgttcttg gggaaggtgc agggtcagga
      301 taaacatgaa gaatattttg ctgagaactt cggcggccca gaaggggagt tccacttctc
      361 agtcccgcat gcagccggag cctccacaga cttctcttca gcctccgctc ccgaccagtc
      421 agcgccccca tccctgggtc atgcccacag cgagggccca gctcctgcct acgtggccag
      481 tggacccttt agagaagccg ggttccccgg ccaggcctcc tcccctctgg gcagggccaa
      541 cgggaggctc tttgcaaacc ccagagactc attctctgcc atgggctttc agcgaaggtt
      601 cttccaccag gaccaatccc ctgttggggg cctcacagcc gaggacattg agaaggcccg
      661 gcaggctaag gctcgccccg agaacaagca gcacaaacag acgctcagcg agcatgcccg
      721 ggagcggaag gtgcctgtga cgaggattgg ccggctggcc aacttcggag gtctggccgt
      781 gggcctgggc ttcggggcac tggcagaggt cgccaagaag agcctgcgct ccgaggaccc
      841 ctcagggaag aaggccgtgc tgggttccag tcctttcctg tccgaggcca atgcagagcg
      901 gatcgtgcgc acgctctgca aggtgcgtgg tgcggcactc aagctgggcc agatgctgag
      961 catccaggat gatgccttta tcaaccccca cctggctaag atcttcgagc gggtgcggca
     1021 gagcgcggac ttcatgccac tgaagcagat gatgaaaact ctcaacaacg acctgggccc
     1081 caactggcgg gacaagttgg aatacttcga ggagcggccc ttcgccgccg catccattgg
     1141 gcaggtgcac ttggcccgaa tgaagggcgg ccgcgaggtg gccatgaaga tccagtaccc
     1201 tggcgtggcc cagagcatca acagtgatgt caacaacctc atggccgtgt tgaacatgag
     1261 caacatgctt ccagaaggcc tgttccccga gcacctgatc gacgtgctga ggcgggagct
     1321 ggccctggag tgtgactacc agcgagaggc cgcctgtgcc cgcaagttca gggacctgct
     1381 gaagggccac cccttcttct atgtgcctga gattgtggat gagctctgca gcccacatgt
     1441 gctgaccaca gagctggtgt ctggcttccc cctggaccag gccgaagggc tcagccagga
     1501 gattcggaac gagatctgct acaacatcct ggttctgtgc ctgagggagc tgttcgagtt
     1561 ccacttcatg caaacagacc ccaactggtc caacttcttc tatgaccccc agcagcacaa
     1621 ggtggctctt ttggattttg gggcaacgcg ggaatatgac agatccttca ccgacctcta
     1681 cattcagatc atcagggctg ctgccgacag ggacagggag actgtgcggg cgaaatccat
     1741 agagatgaag ttcctcaccg gctacgaggt caaggtcatg gaagacgccc acttggatgc
     1801 catcctcatc ctgggggagg ccttcgcctc tgatgagcct tttgattttg gcactcagag
     1861 caccaccgag aagatccaca acctgattcc cgtcatgctg aggcaccgtc tcgtcccccc
     1921 acccgaggaa acctactccc tgcacaggaa gatggggggc tccttcctca tctgctccaa
     1981 gctgaaggcc cgcttcccct gcaaggccat gttcgaggag gcctacagca actactgcaa
     2041 gaggcaggcc cagcagtagg gctgcgggcc acgcccaggc cggctccgcg ggaactctct
     2101 ccctcagaca ggccaaaaac cagtagcgag gtcgtggtga tgctcttttt aactcctttg
     2161 cccaataagg ggggtggctg cctggagccc cgtagccagc gctttccacg gtttctgttg
     2221 ctaaatggtt gtagggtgag aagtgcaaga atgaagatga agccccactg ctcggtcagt
     2281 ctgcctccgt gtgtcctctg aaataagcag atgaagatga aagggcaact ttgttttctt
     2341 ctttttcctg atgtgaatgt taagcagaag ggagagagtc cttactccct tccaatctct
     2401 gttcagtgca aaacccagaa acatgaacag atacgattgt gggattttat catctgtgta
     2461 gtaggtgtgt gtatgtgttt ctagagtgag atttgtgttt tctgcccttt tcctctccag
     2521 ccgatgggct ggagctggga gaggtgctga gctaacagtg ccaacaagtg ctccttaagc
     2581 ctgcgaggcc caggcctgtg gggctggttc tcacctttga cagctgaatg ttcctaaaga
     2641 actgctgccc cacagtgagg gtgggagcag cggaacaggg aatgccagac acaggctcgc
     2701 tgctgctgga aggcggggtg ggacttcctt cctctgtccg gagaggcaca ggtgtcacca
     2761 gttccagcca aaggctcctc acaggcgctg tgaatttttg tacaagtctt gtaattatcg
     2821 aatcaacaac ttgtttcaat ttaataaaaa tgctcatggg aagtgc
//
