LOCUS       NM_024876               2443 bp    mRNA    linear   PRI 06-DEC-2024
DEFINITION  Homo sapiens coenzyme Q8B (COQ8B), transcript variant 1, mRNA;
            nuclear gene for mitochondrial product.
ACCESSION   NM_024876
VERSION     NM_024876.4
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 2443)
  AUTHORS   Iglesias-Romero,A.B., Kaminska,K., Quinodoz,M., Folcher,M., Lin,S.,
            Arno,G., Calado,J., Webster,A.R., Moulin,A., Sousa,A.B.,
            Coutinho-Santos,L., Santos,C. and Rivolta,C.
  TITLE     Bi-allelic variants in COQ8B, a gene involved in the biosynthesis
            of coenzyme Q10, lead to non-syndromic retinitis pigmentosa
  JOURNAL   Am J Hum Genet 111 (10), 2299-2306 (2024)
   PUBMED   39226897
  REMARK    GeneRIF: Bi-allelic variants in COQ8B, a gene involved in the
            biosynthesis of coenzyme Q10, lead to non-syndromic retinitis
            pigmentosa.
REFERENCE   2  (bases 1 to 2443)
  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  (bases 1 to 2443)
  AUTHORS   Fareed,M., Makkar,V., Angral,R., Afzal,M. and Singh,G.
  TITLE     Whole-exome sequencing reveals a novel homozygous mutation in the
            COQ8B gene associated with nephrotic syndrome
  JOURNAL   Sci Rep 11 (1), 13337 (2021)
   PUBMED   34172776
  REMARK    GeneRIF: Whole-exome sequencing reveals a novel homozygous mutation
            in the COQ8B gene associated with nephrotic syndrome.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2443)
  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   5  (bases 1 to 2443)
  AUTHORS   AbuMaziad,A.S., Thaker,T.M., Tomasiak,T.M., Chong,C.C.,
            Galindo,M.K. and Hoyme,H.E.
  TITLE     The role of novel COQ8B mutations in glomerulopathy and related
            kidney defects
  JOURNAL   Am J Med Genet A 185 (1), 60-67 (2021)
   PUBMED   33084234
  REMARK    GeneRIF: The role of novel COQ8B mutations in glomerulopathy and
            related kidney defects.
REFERENCE   6  (bases 1 to 2443)
  AUTHORS   Ashraf,S., Gee,H.Y., Woerner,S., Xie,L.X., Vega-Warner,V.,
            Lovric,S., Fang,H., Song,X., Cattran,D.C., Avila-Casado,C.,
            Paterson,A.D., Nitschke,P., Bole-Feysot,C., Cochat,P.,
            Esteve-Rudd,J., Haberberger,B., Allen,S.J., Zhou,W., Airik,R.,
            Otto,E.A., Barua,M., Al-Hamed,M.H., Kari,J.A., Evans,J.,
            Bierzynska,A., Saleem,M.A., Bockenhauer,D., Kleta,R., El Desoky,S.,
            Hacihamdioglu,D.O., Gok,F., Washburn,J., Wiggins,R.C., Choi,M.,
            Lifton,R.P., Levy,S., Han,Z., Salviati,L., Prokisch,H.,
            Williams,D.S., Pollak,M., Clarke,C.F., Pei,Y., Antignac,C. and
            Hildebrandt,F.
  TITLE     ADCK4 mutations promote steroid-resistant nephrotic syndrome
            through CoQ10 biosynthesis disruption
  JOURNAL   J Clin Invest 123 (12), 5179-5189 (2013)
   PUBMED   24270420
  REMARK    GeneRIF: Mutations in ADCK4 resulted in reduced CoQ10 levels and
            reduced mitochondrial respiratory enzyme activity in cells isolated
            from individuals with steroid-resistant nephrotic syndrome &
            transformed lymphoblasts.
REFERENCE   7  (bases 1 to 2443)
  AUTHORS   Khor,C.C., Davila,S., Breunis,W.B., Lee,Y.C., Shimizu,C.,
            Wright,V.J., Yeung,R.S., Tan,D.E., Sim,K.S., Wang,J.J., Wong,T.Y.,
            Pang,J., Mitchell,P., Cimaz,R., Dahdah,N., Cheung,Y.F., Huang,G.Y.,
            Yang,W., Park,I.S., Lee,J.K., Wu,J.Y., Levin,M., Burns,J.C.,
            Burgner,D., Kuijpers,T.W. and Hibberd,M.L.
  CONSRTM   Hong Kong-Shanghai Kawasaki Disease Genetics Consortium; Korean
            Kawasaki Disease Genetics Consortium; Taiwan Kawasaki Disease
            Genetics Consortium; International Kawasaki Disease Genetics
            Consortium; US Kawasaki Disease Genetics Consortium; Blue Mountains
            Eye Study
  TITLE     Genome-wide association study identifies FCGR2A as a susceptibility
            locus for Kawasaki disease
  JOURNAL   Nat Genet 43 (12), 1241-1246 (2011)
   PUBMED   22081228
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 2443)
  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   9  (bases 1 to 2443)
  AUTHORS   Wistow,G., Bernstein,S.L., Wyatt,M.K., Fariss,R.N., Behal,A.,
            Touchman,J.W., Bouffard,G., Smith,D. and Peterson,K.
  TITLE     Expressed sequence tag analysis of human RPE/choroid for the
            NEIBank Project: over 6000 non-redundant transcripts, novel genes
            and splice variants
  JOURNAL   Mol Vis 8, 205-220 (2002)
   PUBMED   12107410
  REMARK    Publication Status: Online-Only
REFERENCE   10 (bases 1 to 2443)
  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 AC010412.9, AU121879.1,
            BC013114.1 and BC013884.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_024876.3.
            
            Summary: This gene encodes a protein with two copies of a domain
            found in protein kinases. The encoded protein has a complete
            protein kinase catalytic domain, and a truncated domain that
            contains only the active and binding sites of the protein kinase
            domain, however, it is not known whether the protein has any kinase
            activity. Multiple transcript variants encoding different isoforms
            have been found for this gene. [provided by RefSeq, Sep 2011].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and 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 :: SRR1803612.1340.1,
                                           SRR1660803.29598.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000324464.8/
                                                  ENSP00000315118.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 AC010412.9         137574-137574       c
            2-191               AU121879.1         1-190
            192-1667            BC013114.1         1-1476
            1668-2443           BC013884.1         809-1584
FEATURES             Location/Qualifiers
     source          1..2443
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..2443
                     /gene="COQ8B"
                     /gene_synonym="ADCK4; NPHS9"
                     /note="coenzyme Q8B"
                     /db_xref="GeneID:79934"
                     /db_xref="HGNC:HGNC:19041"
                     /db_xref="MIM:615567"
     exon            1..300
                     /gene="COQ8B"
                     /gene_synonym="ADCK4; NPHS9"
                     /inference="alignment:Splign:2.1.0"
     exon            301..405
                     /gene="COQ8B"
                     /gene_synonym="ADCK4; NPHS9"
                     /inference="alignment:Splign:2.1.0"
     CDS             304..1938
                     /gene="COQ8B"
                     /gene_synonym="ADCK4; NPHS9"
                     /note="isoform a is encoded by transcript variant 1; aarF
                     domain-containing protein kinase 4; aarF domain containing
                     kinase 4; coenzyme Q protein 8B; atypical kinase COQ8B,
                     mitochondrial"
                     /codon_start=1
                     /product="atypical kinase COQ8B, mitochondrial isoform a"
                     /protein_id="NP_079152.3"
                     /db_xref="CCDS:CCDS12562.1"
                     /db_xref="GeneID:79934"
                     /db_xref="HGNC:HGNC:19041"
                     /db_xref="MIM:615567"
                     /translation="MWLKVGGLLRGTGGQLGQTVGWPCGALGPGPHRWGPCGGSWAQK
                     FYQDGPGRGLGEEDIRRAREARPRKTPRPQLSDRSRERKVPASRISRLANFGGLAVGL
                     GLGVLAEMAKKSMPGGRLQSEGGSGLDSSPFLSEANAERIVQTLCTVRGAALKVGQML
                     SIQDNSFISPQLQHIFERVRQSADFMPRWQMLRVLEEELGRDWQAKVASLEEVPFAAA
                     SIGQVHQGLLRDGTEVAVKIQYPGIAQSIQSDVQNLLAVLKMSAALPAGLFAEQSLQA
                     LQQELAWECDYRREAACAQNFRQLLANDPFFRVPAVVKELCTTRVLGMELAGGVPLDQ
                     CQGLSQDLRNQICFQLLTLCLRELFEFRFMQTDPNWANFLYDASSHQVTLLDFGASRE
                     FGTEFTDHYIEVVKAAADGDRDCVLQKSRDLKFLTGFETKAFSDAHVEAVMILGEPFA
                     TQGPYDFGSGETARRIQDLIPVLLRHRLCPPPEETYALHRKLAGAFLACAHLRAHIAC
                     RDLFQDTYHRYWASRQPDAATAGSLPTKGDSWVDPS"
     exon            406..525
                     /gene="COQ8B"
                     /gene_synonym="ADCK4; NPHS9"
                     /inference="alignment:Splign:2.1.0"
     exon            526..592
                     /gene="COQ8B"
                     /gene_synonym="ADCK4; NPHS9"
                     /inference="alignment:Splign:2.1.0"
     exon            593..670
                     /gene="COQ8B"
                     /gene_synonym="ADCK4; NPHS9"
                     /inference="alignment:Splign:2.1.0"
     exon            671..793
                     /gene="COQ8B"
                     /gene_synonym="ADCK4; NPHS9"
                     /inference="alignment:Splign:2.1.0"
     exon            794..879
                     /gene="COQ8B"
                     /gene_synonym="ADCK4; NPHS9"
                     /inference="alignment:Splign:2.1.0"
     exon            880..1020
                     /gene="COQ8B"
                     /gene_synonym="ADCK4; NPHS9"
                     /inference="alignment:Splign:2.1.0"
     exon            1021..1102
                     /gene="COQ8B"
                     /gene_synonym="ADCK4; NPHS9"
                     /inference="alignment:Splign:2.1.0"
     exon            1103..1196
                     /gene="COQ8B"
                     /gene_synonym="ADCK4; NPHS9"
                     /inference="alignment:Splign:2.1.0"
     exon            1197..1338
                     /gene="COQ8B"
                     /gene_synonym="ADCK4; NPHS9"
                     /inference="alignment:Splign:2.1.0"
     exon            1339..1446
                     /gene="COQ8B"
                     /gene_synonym="ADCK4; NPHS9"
                     /inference="alignment:Splign:2.1.0"
     exon            1447..1512
                     /gene="COQ8B"
                     /gene_synonym="ADCK4; NPHS9"
                     /inference="alignment:Splign:2.1.0"
     exon            1513..1599
                     /gene="COQ8B"
                     /gene_synonym="ADCK4; NPHS9"
                     /inference="alignment:Splign:2.1.0"
     exon            1600..2443
                     /gene="COQ8B"
                     /gene_synonym="ADCK4; NPHS9"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2422..2427
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COQ8B"
                     /gene_synonym="ADCK4; NPHS9"
                     /note="hexamer: AATAAA"
     polyA_site      2443
                     /gene="COQ8B"
                     /gene_synonym="ADCK4; NPHS9"
                     /note="major polyA site"
ORIGIN      
        1 ctctgagcat ccgaagcgcg gccaggtatg catctagggc accggggtcc tggtggcgcg
       61 ccagtgggcc ccctccctcc acccctgtga ctaaaccacc ctccctacac ggttgaatga
      121 caagttcaac cttccctaaa acccccggtg acgagtccag ccgcgcgccc attcttcacg
      181 caggggcggg acggactttc aaagacttgg agttcccacg ggtgtgggtt cgagaccttc
      241 ctctgccagt tcccagctcc gctaccctga gcaaatgact tacgctccat tggattttcc
      301 gcaatgtggc tgaaggtggg gggcctactt cgggggaccg gtggacagct gggccagact
      361 gttggttggc cttgtggggc cctggggcct gggccccacc gctggggacc atgtggaggt
      421 tcttgggccc aaaagtttta ccaggatggg cctgggagag gcctgggtga ggaggacatt
      481 cgcagggcac gggaggcccg tcccaggaag acaccccggc cccagctgag tgaccgctct
      541 cgagaacgca aggtgcctgc ctcccgcatc agccgcttgg ccaactttgg gggactggct
      601 gtgggcttgg ggctaggagt actggccgag atggctaaga agtccatgcc aggaggtcgt
      661 ctgcagtcag agggtggttc tgggctggac tccagcccct tcctgtcgga ggccaatgcc
      721 gagcggattg tgcagacctt atgtacagtt cgaggggccg ccctcaaggt tggccagatg
      781 ctcagcatcc aggacaacag cttcatcagc cctcagctgc agcacatctt tgagcgggtc
      841 cgccagagcg ccgacttcat gccccgctgg cagatgctga gagttcttga agaggagctc
      901 ggcagggact ggcaggccaa ggtggcctcc ttggaggagg tgccctttgc cgctgcctca
      961 attgggcagg tgcaccaggg cctgctgagg gacgggacgg aggtggccgt gaagatccag
     1021 taccccggca tagcccagag cattcagagc gatgtccaga acctgctggc ggtactcaag
     1081 atgagcgcgg ccctgcccgc gggcctgttt gccgagcaga gcctgcaggc cttgcagcag
     1141 gagctggctt gggagtgtga ctaccgtcgt gaggcggctt gtgcccagaa tttcaggcag
     1201 ctgctggcaa atgacccctt cttccgggtc ccagccgtgg ttaaggagct gtgcacgaca
     1261 cgggtgctgg gcatggagct ggctggaggg gtccccctgg accagtgcca gggcctaagc
     1321 caggacctgc ggaaccagat ttgcttccag ctcctgacgc tgtgtctgcg ggagctgttt
     1381 gagttccgat tcatgcagac tgaccccaac tgggccaact tcctgtatga tgcctccagc
     1441 caccaggtga ccctgctgga ctttggtgca agccgggagt ttgggacaga gttcacagac
     1501 cattacatcg aggtggtgaa ggctgcagct gatggagaca gagactgtgt cctgcagaag
     1561 tccagggacc tcaaattcct cacaggcttt gaaaccaagg cattctccga cgcccacgtg
     1621 gaggcagtga tgatcctggg ggagcctttc gccacccagg gcccttatga ctttgggtcg
     1681 ggggaaacgg cccgccgcat acaggacctc atcccggtgc tgctgcggca ccggctgtgt
     1741 cccccacccg aggagaccta tgccctgcac cgcaagctgg caggggcttt cctggcctgt
     1801 gcccacctcc gagcccacat cgcctgcagg gacctcttcc aggacaccta ccaccgctac
     1861 tgggccagtc gccagccaga cgcagccact gccggcagcc tccccaccaa aggggactcc
     1921 tgggtggatc cctcatgaca gcctccatgg gggattcagt ccccagagca ggccgtaccc
     1981 tgctgtagtg cctcttatcc cttccccgtc tgccctgggt cagaggagcc cccttgggct
     2041 tcccagtctt gcctggctct cctccttggc ccaggagctc aggatccctg gggctgggga
     2101 actcccaact tcgtgcccta gatcctgcac ctccccactc gaaagtgggt atccgaaaac
     2161 taagccaggg aagcggttaa cttatctttg ccaacatttg agggagcctt gggccgctgc
     2221 atgtcgttat gcagatcaga ctcatcaggg ggagccctca cctctgcctc aagcctcccg
     2281 tggaaggcga gatggtcctg gaggcagtcc tcacctctgc ctccctcgct cctccaacag
     2341 ctgccttctc ccgggttcca gcctctcagt gtgttggaga ggtaggggtg cggggtgggg
     2401 gggagctgaa tcttcaatcg gaataaaagc agccctcccc ttc
//
