LOCUS       NM_025147               2112 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens coenzyme Q10B (COQ10B), transcript variant 1, mRNA;
            nuclear gene for mitochondrial product.
ACCESSION   NM_025147
VERSION     NM_025147.5
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 2112)
  AUTHORS   Yen,H.C., Chen,B.S., Yang,S.L., Wu,S.Y., Chang,C.W., Wei,K.C.,
            Hsu,J.C., Hsu,Y.H., Yen,T.H. and Lin,C.L.
  TITLE     Levels of Coenzyme Q10 and Several COQ Proteins in Human
            Astrocytoma Tissues Are Inversely Correlated with Malignancy
  JOURNAL   Biomolecules 12 (2), 336 (2022)
   PUBMED   35204836
  REMARK    GeneRIF: Levels of Coenzyme Q10 and Several COQ Proteins in Human
            Astrocytoma Tissues Are Inversely Correlated with Malignancy.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2112)
  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 2112)
  AUTHORS   Naess,K., Bruhn,H., Stranneheim,H., Freyer,C., Wibom,R.,
            Mourier,A., Engvall,M., Nennesmo,I., Lesko,N., Wredenberg,A.,
            Wedell,A. and von Dobeln,U.
  TITLE     Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in
            55 Children with Combined Enzyme Deficiencies of the Mitochondrial
            Respiratory Chain
  JOURNAL   J Pediatr 228, 240-251 (2021)
   PUBMED   32827528
  REMARK    GeneRIF: Clinical Presentation, Genetic Etiology, and Coenzyme Q10
            Levels in 55 Children with Combined Enzyme Deficiencies of the
            Mitochondrial Respiratory Chain.
REFERENCE   4  (bases 1 to 2112)
  AUTHORS   El-Attar,E., Kamel,A., Karmouty,A., Wehida,N., Nassra,R., El
            Nemr,M. and Kandil,N.S.
  TITLE     Assessment of Serum CoQ10 Levels and other Antioxidant Markers in
            Breast Cancer
  JOURNAL   Asian Pac J Cancer Prev 21 (2), 465-471 (2020)
   PUBMED   32102525
  REMARK    GeneRIF: Assessment of Serum CoQ10 Levels and other Antioxidant
            Markers in Breast Cancer.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2112)
  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
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC010746.8.
            
            On Feb 5, 2021 this sequence version replaced NM_025147.4.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC022453.1, AK023510.1 [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                 :: ENST00000263960.7/
                                                  ENSP00000263960.2
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression,
                                                  longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-113               AC010746.8         189168-189280
            114-263             AC010746.8         195548-195697
            264-456             AC010746.8         198155-198347
            457-558             AC010746.8         205686-205787
            559-2112            AC010746.8         209373-210926
FEATURES             Location/Qualifiers
     source          1..2112
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33.1"
     gene            1..2112
                     /gene="COQ10B"
                     /note="coenzyme Q10B"
                     /db_xref="GeneID:80219"
                     /db_xref="HGNC:HGNC:25819"
                     /db_xref="MIM:620737"
     exon            1..113
                     /gene="COQ10B"
                     /inference="alignment:Splign:2.1.0"
     CDS             10..726
                     /gene="COQ10B"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; coenzyme Q-binding protein COQ10 homolog B,
                     mitochondrial; coenzyme Q10 homolog B"
                     /codon_start=1
                     /product="coenzyme Q-binding protein COQ10 homolog B,
                     mitochondrial isoform 1 precursor"
                     /protein_id="NP_079423.1"
                     /db_xref="CCDS:CCDS2319.1"
                     /db_xref="GeneID:80219"
                     /db_xref="HGNC:HGNC:25819"
                     /db_xref="MIM:620737"
                     /translation="MAARTGHTALRRVVSGCRPKSATAAGAQAPVRNGRYLASCGILM
                     SRTLPLHTSILPKEICARTFFKITAPLINKRKEYSERRILGYSMQEMYDVVSGVEDYK
                     HFVPWCKKSDVISKRSGYCKTRLEIGFPPVLERYTSVVTLVKPHLVKASCTDGRLFNH
                     LETIWRFSPGLPGYPRTCTLDFSISFEFRSLLHSQLATLFFDEVVKQMVAAFERRACK
                     LYGPETNIPRELMLHEVHHT"
     exon            114..263
                     /gene="COQ10B"
                     /inference="alignment:Splign:2.1.0"
     exon            264..456
                     /gene="COQ10B"
                     /inference="alignment:Splign:2.1.0"
     exon            457..558
                     /gene="COQ10B"
                     /inference="alignment:Splign:2.1.0"
     exon            559..2112
                     /gene="COQ10B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1904..1909
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COQ10B"
                     /note="hexamer: AATAAA"
     polyA_site      1931
                     /gene="COQ10B"
                     /note="major polyA site"
     regulatory      1991..1996
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COQ10B"
                     /note="hexamer: AGTAAA"
     polyA_site      2023
                     /gene="COQ10B"
     regulatory      2077..2082
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COQ10B"
                     /note="hexamer: AATATA"
     polyA_site      2112
                     /gene="COQ10B"
ORIGIN      
        1 gagtctatca tggcagctcg gactggtcat acggccttga gaagggtagt ctcgggatgc
       61 cgtccgaagt cggcgacagc ggccggggcg caggcgcccg tgcggaatgg cagatattta
      121 gcttcctgtg gtatactgat gagcagaact cttccactac atacctcaat tttgcctaag
      181 gagatatgtg cacgaacttt cttcaaaatc actgcaccat taataaacaa aaggaaagaa
      241 tattcagaga gaagaatttt aggatattca atgcaggaaa tgtatgatgt agtatcggga
      301 gtggaggatt acaagcattt tgttccttgg tgcaaaaaat cagatgttat atcaaagaga
      361 tctggatatt gtaaaacaag attagaaatt ggatttccac ctgtgttgga gcgatataca
      421 tcagtagtaa ccttggtgaa acctcattta gtaaaggcat cttgtactga tgggagactt
      481 ttcaatcatt tggagactat ttggcgtttt agcccaggtc ttcctggcta cccaagaact
      541 tgtaccttgg atttttcaat ttcttttgaa tttcgatcac ttctacattc ccagcttgcc
      601 acactctttt ttgatgaagt tgtgaagcag atggtagctg cctttgaaag aagagcatgt
      661 aagctgtatg gtccagaaac aaatatacct cgggagttaa tgcttcatga agtccatcac
      721 acataaaggc aaaaaagaac tggtgccacc tgcttctgac tttagtttgt tcacttttag
      781 gaagtatttt catgacatgt tttcagaagc cagaaagcat ttgttaaacg cagctttggt
      841 tataaacctg caccattgaa aatttgcaca tagaatatag actcacttgt acatagaatt
      901 atttcttcaa gtataattca aaataatatg gacattatca tgttctgcat tacaataatg
      961 ggatgtcatc accattgcta gaatactggc atgattcttc tgagcagaag ttgaaactgt
     1021 aaatttaaac cttttaatta tcaccttacc tgaaagaggt tagttaagat attcacacag
     1081 tatgtattat attaaccata tcacacttaa gttattaaat tcagactatt tgtaacttat
     1141 tgttataggg cctgccgtat ggcttaggat atttgagtaa tcatatattt aaagtaaaaa
     1201 ctttgggctg ggcacagtgg ctcacacctg taatcccagc acttggggaa gctgaggtgg
     1261 gcagatcagt tgaggtcagg agttctagac cagcctggtc aacatggcga aaccccatct
     1321 ctactaaaaa tacaaaaatt agctgggcgt ggtggcacac acctgtaatc ccagttactt
     1381 gggaggctga ggcacaagaa tcgcttgaac ccgggaggcg gaggttgcag ttagccaaga
     1441 tcgccctgct gcactccagc ctgggcaaca gagggagact ctgtctccaa aaacaaaaac
     1501 aaaaactgtt agtgaaggtt ccctgggact tttgatattt taaaaattgt tcttatgact
     1561 agtagataaa ttcattgcca taatgaggct agctcccaga taaacagtgt attttcttct
     1621 tttttttttt ttttttggtg agtggtccag agctttaagc tacttttcca gtagtttgcc
     1681 actttctccg aggtagtttg gctgctcttt cagtaatgct aattgtgtgt caaattttgt
     1741 ctacaacagt aggcaacaga tgaagataag ttggttgaat gtctccagca ctatgcatcc
     1801 ctattttcta tttattgtgt acactcactt tcagtaatgt gtttcaaact ggtatttttt
     1861 aaaaaacaaa tcaatgtaag gactgaagtt gaagtagcaa tgtaataaag ttaatttgtt
     1921 tattttttgt acagttagtt tggttattga aatcttccta tattgtttaa atgtgtattt
     1981 gcatagacat agtaaagtgt tacagcattt catgtcttaa aaatatctat gaagatatct
     2041 aaaatatcta tttctatgaa gaaacagact ttaacaaata taagcaaaat tcagttttct
     2101 tttaaccagt ca
//
