LOCUS       NM_001320820            2241 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens coenzyme Q10B (COQ10B), transcript variant 4, mRNA;
            nuclear gene for mitochondrial product.
ACCESSION   NM_001320820
VERSION     NM_001320820.2
KEYWORDS    RefSeq.
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 2241)
  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 2241)
  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 2241)
  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 2241)
  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 2241)
  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
            AK294093.1, BC022453.1, AA232326.1 and AC010746.8.
            
            On Aug 13, 2020 this sequence version replaced NM_001320820.1.
            
            Transcript Variant: This variant (4) differs in the 5' UTR and
            coding sequence compared to variant 1. The resulting isoform (4) is
            shorter at the N-terminus compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK294093.1, SRR14038197.1217719.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145313, SAMEA2162841
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1339              AK294093.1         242-1580
            1340-2058           BC022453.1         1257-1975
            2059-2240           AA232326.1         1-182               c
            2241-2241           AC010746.8         210926-210926
FEATURES             Location/Qualifiers
     source          1..2241
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33.1"
     gene            1..2241
                     /gene="COQ10B"
                     /note="coenzyme Q10B"
                     /db_xref="GeneID:80219"
                     /db_xref="HGNC:HGNC:25819"
                     /db_xref="MIM:620737"
     exon            1..242
                     /gene="COQ10B"
                     /inference="alignment:Splign:2.1.0"
     exon            243..392
                     /gene="COQ10B"
                     /inference="alignment:Splign:2.1.0"
     CDS             268..855
                     /gene="COQ10B"
                     /note="isoform 4 is encoded by transcript variant 4;
                     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 4"
                     /protein_id="NP_001307749.1"
                     /db_xref="GeneID:80219"
                     /db_xref="HGNC:HGNC:25819"
                     /db_xref="MIM:620737"
                     /translation="MSRTLPLHTSILPKEICARTFFKITAPLINKRKEYSERRILGYS
                     MQEMYDVVSGVEDYKHFVPWCKKSDVISKRSGYCKTRLEIGFPPVLERYTSVVTLVKP
                     HLVKASCTDGRLFNHLETIWRFSPGLPGYPRTCTLDFSISFEFRSLLHSQLATLFFDE
                     VVKQMVAAFERRACKLYGPETNIPRELMLHEVHHT"
     exon            393..585
                     /gene="COQ10B"
                     /inference="alignment:Splign:2.1.0"
     exon            586..687
                     /gene="COQ10B"
                     /inference="alignment:Splign:2.1.0"
     exon            688..2241
                     /gene="COQ10B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2033..2038
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COQ10B"
                     /note="hexamer: AATAAA"
     polyA_site      2060
                     /gene="COQ10B"
                     /note="major polyA site"
     regulatory      2120..2125
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COQ10B"
                     /note="hexamer: AGTAAA"
     polyA_site      2152
                     /gene="COQ10B"
     regulatory      2206..2211
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COQ10B"
                     /note="hexamer: AATATA"
     polyA_site      2241
                     /gene="COQ10B"
ORIGIN      
        1 agaagggttg ccggctgctg gctgtatggg agtttgtgtt tggcggtgag cccccttctc
       61 cggttccttc tacctgccag atggtcagat gcgttttccc aatttctgaa agagtgcttt
      121 gccctcgcca tttagtgttt acaaaactaa atacagccag cataagggac ttggattttt
      181 tcactctgct gtaacttaca ggtcctgtaa ccttgaagca tagtcagctt tcgattttcc
      241 tgatatttag cttcctgtgg tatactgatg agcagaactc ttccactaca tacctcaatt
      301 ttgcctaagg agatatgtgc acgaactttc ttcaaaatca ctgcaccatt aataaacaaa
      361 aggaaagaat attcagagag aagaatttta ggatattcaa tgcaggaaat gtatgatgta
      421 gtatcgggag tggaggatta caagcatttt gttccttggt gcaaaaaatc agatgttata
      481 tcaaagagat ctggatattg taaaacaaga ttagaaattg gatttccacc tgtgttggag
      541 cgatatacat cagtagtaac cttggtgaaa cctcatttag taaaggcatc ttgtactgat
      601 gggagacttt tcaatcattt ggagactatt tggcgtttta gcccaggtct tcctggctac
      661 ccaagaactt gtaccttgga tttttcaatt tcttttgaat ttcgatcact tctacattcc
      721 cagcttgcca cactcttttt tgatgaagtt gtgaagcaga tggtagctgc ctttgaaaga
      781 agagcatgta agctgtatgg tccagaaaca aatatacctc gggagttaat gcttcatgaa
      841 gtccatcaca cataaaggca aaaaagaact ggtgccacct gcttctgact ttagtttgtt
      901 cacttttagg aagtattttc atgacatgtt ttcagaagcc agaaagcatt tgttaaacgc
      961 agctttggtt ataaacctgc accattgaaa atttgcacat agaatataga ctcacttgta
     1021 catagaatta tttcttcaag tataattcaa aataatatgg acattatcat gttctgcatt
     1081 acaataatgg gatgtcatca ccattgctag aatactggca tgattcttct gagcagaagt
     1141 tgaaactgta aatttaaacc ttttaattat caccttacct gaaagaggtt agttaagata
     1201 ttcacacagt atgtattata ttaaccatat cacacttaag ttattaaatt cagactattt
     1261 gtaacttatt gttatagggc ctgccgtatg gcttaggata tttgagtaat catatattta
     1321 aagtaaaaac tttgggctgg gcacagtggc tcacacctgt aatcccagca cttggggaag
     1381 ctgaggtggg cagatcagtt gaggtcagga gttctagacc agcctggtca acatggcgaa
     1441 accccatctc tactaaaaat acaaaaatta gctgggcgtg gtggcacaca cctgtaatcc
     1501 cagttacttg ggaggctgag gcacaagaat cgcttgaacc cgggaggcgg aggttgcagt
     1561 tagccaagat cgccctgctg cactccagcc tgggcaacag agggagactc tgtctccaaa
     1621 aacaaaaaca aaaactgtta gtgaaggttc cctgggactt ttgatatttt aaaaattgtt
     1681 cttatgacta gtagataaat tcattgccat aatgaggcta gctcccagat aaacagtgta
     1741 ttttcttctt tttttttttt tttttggtga gtggtccaga gctttaagct acttttccag
     1801 tagtttgcca ctttctccga ggtagtttgg ctgctctttc agtaatgcta attgtgtgtc
     1861 aaattttgtc tacaacagta ggcaacagat gaagataagt tggttgaatg tctccagcac
     1921 tatgcatccc tattttctat ttattgtgta cactcacttt cagtaatgtg tttcaaactg
     1981 gtatttttta aaaaacaaat caatgtaagg actgaagttg aagtagcaat gtaataaagt
     2041 taatttgttt attttttgta cagttagttt ggttattgaa atcttcctat attgtttaaa
     2101 tgtgtatttg catagacata gtaaagtgtt acagcatttc atgtcttaaa aatatctatg
     2161 aagatatcta aaatatctat ttctatgaag aaacagactt taacaaatat aagcaaaatt
     2221 cagttttctt ttaaccagtc a
//
