LOCUS       NM_002493               1361 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens NADH:ubiquinone oxidoreductase subunit B6 (NDUFB6),
            transcript variant 1, mRNA.
ACCESSION   NM_002493
VERSION     NM_002493.5
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 1361)
  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 1361)
  AUTHORS   Pesta,D., Jelenik,T., Zaharia,O.P., Bobrov,P., Gorgens,S.,
            Bodis,K., Karusheva,Y., Krako Jakovljevic,N., Lalic,N.M.,
            Markgraf,D.F., Burkart,V., Mussig,K., Knebel,B., Kotzka,J.,
            Eckel,J., Strassburger,K., Szendroedi,J. and Roden,M.
  TITLE     NDUFB6 Polymorphism Is Associated With Physical Activity-Mediated
            Metabolic Changes in Type 2 Diabetes
  JOURNAL   Front Endocrinol (Lausanne) 12, 693683 (2021)
   PUBMED   34659107
  REMARK    GeneRIF: NDUFB6 Polymorphism Is Associated With Physical
            Activity-Mediated Metabolic Changes in Type 2 Diabetes.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1361)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 1361)
  AUTHORS   Signes,A. and Fernandez-Vizarra,E.
  TITLE     Assembly of mammalian oxidative phosphorylation complexes I-V and
            supercomplexes
  JOURNAL   Essays Biochem 62 (3), 255-270 (2018)
   PUBMED   30030361
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1361)
  AUTHORS   Guo,R., Zong,S., Wu,M., Gu,J. and Yang,M.
  TITLE     Architecture of Human Mitochondrial Respiratory Megacomplex
            I2III2IV2
  JOURNAL   Cell 170 (6), 1247-1257 (2017)
   PUBMED   28844695
REFERENCE   6  (bases 1 to 1361)
  AUTHORS   Smeitink,J. and van den Heuvel,L.
  TITLE     Human mitochondrial complex I in health and disease
  JOURNAL   Am J Hum Genet 64 (6), 1505-1510 (1999)
   PUBMED   10330338
  REMARK    Review article
REFERENCE   7  (bases 1 to 1361)
  AUTHORS   Loeffen,J.L., Triepels,R.H., van den Heuvel,L.P., Schuelke,M.,
            Buskens,C.A., Smeets,R.J., Trijbels,J.M. and Smeitink,J.A.
  TITLE     cDNA of eight nuclear encoded subunits of NADH:ubiquinone
            oxidoreductase: human complex I cDNA characterization completed
  JOURNAL   Biochem Biophys Res Commun 253 (2), 415-422 (1998)
   PUBMED   9878551
REFERENCE   8  (bases 1 to 1361)
  AUTHORS   Smeitink,J., Loeffen,J., Smeets,R., Triepels,R., Ruitenbeek,W.,
            Trijbels,F. and van den Heuvel,L.
  TITLE     Molecular characterization and mutational analysis of the human B17
            subunit of the mitochondrial respiratory chain complex I
  JOURNAL   Hum Genet 103 (2), 245-250 (1998)
   PUBMED   9760212
REFERENCE   9  (bases 1 to 1361)
  AUTHORS   Emahazion,T., Beskow,A., Gyllensten,U. and Brookes,A.J.
  TITLE     Intron based radiation hybrid mapping of 15 complex I genes of the
            human electron transport chain
  JOURNAL   Cytogenet Cell Genet 82 (1-2), 115-119 (1998)
   PUBMED   9763677
REFERENCE   10 (bases 1 to 1361)
  AUTHORS   Earley,F.G. and Ragan,C.I.
  TITLE     Identification of the subunits of bovine heart mitochondrial NADH
            dehydrogenase that are exposed to the phospholipid bilayer by
            photo-labelling with 5-iodonaphth-1-yl azide
  JOURNAL   Biochem J 191 (2), 429-436 (1980)
   PUBMED   7236204
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP208846.1, BI669356.1,
            BG220924.1 and AL353671.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_002493.4.
            
            Summary: The protein encoded by this gene is a subunit of the
            multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian
            complex I is composed of 45 different subunits. It locates at the
            mitochondrial inner membrane. This protein has NADH dehydrogenase
            activity and oxidoreductase activity. It transfers electrons from
            NADH to the respiratory chain. The immediate electron acceptor for
            the enzyme is believed to be ubiquinone. Alternative splicing
            occurs at this locus and three transcript variants encoding
            distinct isoforms have been identified. [provided by RefSeq, Jan
            2011].
            
            Transcript Variant: This variant (1) encodes the longest 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 :: SRR3476690.1014428.1,
                                           SRR5189655.211686.1 [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                 :: ENST00000379847.8/
                                                  ENSP00000369176.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-560               BP208846.1         24-583
            561-711             BI669356.1         520-670
            712-836             BG220924.1         348-472
            837-1361            AL353671.6         90955-91479         c
FEATURES             Location/Qualifiers
     source          1..1361
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p21.1"
     gene            1..1361
                     /gene="NDUFB6"
                     /gene_synonym="B17; CI"
                     /note="NADH:ubiquinone oxidoreductase subunit B6"
                     /db_xref="GeneID:4712"
                     /db_xref="HGNC:HGNC:7701"
                     /db_xref="MIM:603322"
     exon            1..279
                     /gene="NDUFB6"
                     /gene_synonym="B17; CI"
                     /inference="alignment:Splign:2.1.0"
     CDS             100..486
                     /gene="NDUFB6"
                     /gene_synonym="B17; CI"
                     /EC_number="7.1.1.2"
                     /EC_number="1.6.99.3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     NADH-ubiquinone oxidoreductase beta subunit, 6;
                     NADH-ubiquinone oxidoreductase B17 subunit; complex I,
                     mitochondrial respiratory chain, B17 subunit; NADH
                     dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6;
                     CI-B17; complex I-B17; NADH dehydrogenase (ubiquinone) 1
                     beta subcomplex, 6, 17kDa"
                     /codon_start=1
                     /product="NADH dehydrogenase [ubiquinone] 1 beta
                     subcomplex subunit 6 isoform 1"
                     /protein_id="NP_002484.1"
                     /db_xref="CCDS:CCDS6528.1"
                     /db_xref="GeneID:4712"
                     /db_xref="HGNC:HGNC:7701"
                     /db_xref="MIM:603322"
                     /translation="MTGYTPDEKLRLQQLRELRRRWLKDQELSPREPVLPPQKMGPME
                     KFWNKFLENKSPWRKMVHGVYKKSIFVFTHVLVPVWIIHYYMKYHVSEKPYGIVEKKS
                     RIFPGDTILETGEVIPPMKEFPDQHH"
     exon            280..372
                     /gene="NDUFB6"
                     /gene_synonym="B17; CI"
                     /inference="alignment:Splign:2.1.0"
     exon            373..417
                     /gene="NDUFB6"
                     /gene_synonym="B17; CI"
                     /inference="alignment:Splign:2.1.0"
     exon            418..1361
                     /gene="NDUFB6"
                     /gene_synonym="B17; CI"
                     /inference="alignment:Splign:2.1.0"
     regulatory      573..578
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFB6"
                     /gene_synonym="B17; CI"
                     /note="hexamer: AATAAA"
     polyA_site      599
                     /gene="NDUFB6"
                     /gene_synonym="B17; CI"
                     /note="major polyA site"
     regulatory      649..654
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFB6"
                     /gene_synonym="B17; CI"
                     /note="hexamer: AGTAAA"
     polyA_site      674
                     /gene="NDUFB6"
                     /gene_synonym="B17; CI"
                     /note="major polyA site"
     regulatory      821..826
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFB6"
                     /gene_synonym="B17; CI"
                     /note="hexamer: AACAAA"
     polyA_site      840
                     /gene="NDUFB6"
                     /gene_synonym="B17; CI"
     regulatory      1343..1348
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFB6"
                     /gene_synonym="B17; CI"
                     /note="hexamer: AATAAA"
     polyA_site      1361
                     /gene="NDUFB6"
                     /gene_synonym="B17; CI"
ORIGIN      
        1 gttcccgcaa ggtcgctttg cagagcggga gcgcgcttaa gtaactagtc cgtagttcga
       61 gggtgcgccg tgtccttttg cgttggtacc agcggcgaca tgacggggta cactccggat
      121 gagaaactgc ggctgcagca gctgcgagag ctgagaaggc gatggctgaa ggaccaggag
      181 ctgagccctc gggagccggt gctgccccca cagaagatgg ggcctatgga gaaattctgg
      241 aataaatttt tggagaataa atccccttgg aggaaaatgg tccatggggt atacaaaaag
      301 agtatctttg ttttcactca tgtacttgta cctgtctgga ttattcatta ttacatgaag
      361 tatcatgttt ctgaaaaacc atatggcata gttgaaaaga agtccagaat attccctggt
      421 gatacaattc tggagactgg agaagtaatt ccaccaatga aagaatttcc tgatcaacat
      481 cattaaagat tatgtaaaaa gttaaaaggc ttatgagcct aagtttgttc ctatattacc
      541 atatttactg aattttctgg aaaagtaact ttaataaagt ttaatctcag aaattgtcat
      601 atctgttttc aagcattgta caatttgaga ctgagtaatt taacaataag taaaaagtgg
      661 acatgctaaa caaatatgag agactaccta ctttttctgg tcattcttga cttggaaaac
      721 ggtatggaaa agtatttagt tacatgtttg tttgtttttt tcttacacag tacttacact
      781 aatttggtat cagggtatgc aacagtgaaa tatcacaata aacaaatgta agaacagcaa
      841 ttccatgcac ttttgtttta aggaaatctt tccggccagg cgcagtggct catgcctgta
      901 atcccagcac tttgggaggc cgaggcgggc agatcacgaa gtcaggagat cgagaccatc
      961 atggctaaca cagtgaaacc ccgtccctac taaaaataca aaaaaattag ccgggcgtgg
     1021 tggcgggctc ctgtagtccc agctactgcg gaggctgagg cacgagattg gtgtgaaccc
     1081 agaaggcgga gcttgcagta agccgagata gtgccactga gcctgggcga cagagcaaga
     1141 ctccgtctca aaaaaaaaaa aagctttccg aatcattttt gaagaattta gaaacttgat
     1201 tgaaaagctt attccaacta tgatctgaca ctcaagactg tcagatttag gttgctgtta
     1261 attttgtcat gagaatgtaa aatactaaaa tctctaagtg aaaaatttgc atactagtgc
     1321 ttgttataaa ggataatgca aaaataaact tgggaacttt g
//
