LOCUS       NM_004146                535 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens NADH:ubiquinone oxidoreductase subunit B7 (NDUFB7),
            mRNA.
ACCESSION   NM_004146
VERSION     NM_004146.6
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 535)
  AUTHORS   Harada,H., Moriya,K., Kobuchi,H., Ishihara,N. and Utsumi,T.
  TITLE     Protein N-myristoylation plays a critical role in the mitochondrial
            localization of human mitochondrial complex I accessory subunit
            NDUFB7
  JOURNAL   Sci Rep 13 (1), 22991 (2023)
   PUBMED   38151566
  REMARK    GeneRIF: Protein N-myristoylation plays a critical role in the
            mitochondrial localization of human mitochondrial complex I
            accessory subunit NDUFB7.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 535)
  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 535)
  AUTHORS   Correia,S.P., Moedas,M.F., Naess,K., Bruhn,H., Maffezzini,C.,
            Calvo-Garrido,J., Lesko,N., Wibom,R., Schober,F.A., Jemt,A.,
            Stranneheim,H., Freyer,C., Wedell,A. and Wredenberg,A.
  TITLE     Severe congenital lactic acidosis and hypertrophic cardiomyopathy
            caused by an intronic variant in NDUFB7
  JOURNAL   Hum Mutat 42 (4), 378-384 (2021)
   PUBMED   33502047
REFERENCE   4  (bases 1 to 535)
  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 535)
  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   6  (bases 1 to 535)
  AUTHORS   Triepels,R., Smeitink,J., Loeffen,J., Smeets,R., Trijbels,F. and
            van den Heuvel,L.
  TITLE     Characterization of the human complex I NDUFB7 and 17.2-kDa cDNAs
            and mutational analysis of 19 genes of the HP fraction in complex
            I-deficient-patients
  JOURNAL   Hum Genet 106 (4), 385-391 (2000)
   PUBMED   10830904
REFERENCE   7  (bases 1 to 535)
  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   8  (bases 1 to 535)
  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   9  (bases 1 to 535)
  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 535)
  AUTHORS   Wong,Y.C., Tsao,S.W., Kakefuda,M. and Bernal,S.D.
  TITLE     cDNA cloning of a novel cell adhesion protein expressed in human
            squamous carcinoma cells
  JOURNAL   Biochem Biophys Res Commun 166 (2), 984-992 (1990)
   PUBMED   2302251
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB124371.1 and BC002595.2.
            
            On Nov 22, 2018 this sequence version replaced NM_004146.5.
            
            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 is located 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.
            [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 :: SRR1163657.221643.1,
                                           SRR1163658.407215.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000215565.3/
                                                  ENSP00000215565.1
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-419               CB124371.1         12-430
            420-535             BC002595.2         416-531
FEATURES             Location/Qualifiers
     source          1..535
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.12"
     gene            1..535
                     /gene="NDUFB7"
                     /gene_synonym="B18; CI-B18; MC1DN39"
                     /note="NADH:ubiquinone oxidoreductase subunit B7"
                     /db_xref="GeneID:4713"
                     /db_xref="HGNC:HGNC:7702"
                     /db_xref="MIM:603842"
     exon            1..178
                     /gene="NDUFB7"
                     /gene_synonym="B18; CI-B18; MC1DN39"
                     /inference="alignment:Splign:2.1.0"
     CDS             67..480
                     /gene="NDUFB7"
                     /gene_synonym="B18; CI-B18; MC1DN39"
                     /EC_number="7.1.1.2"
                     /EC_number="1.6.99.3"
                     /note="complex I B18 subunit; NADH-ubiquinone
                     oxidoreductase B18 subunit; complex I-B18; cell adhesion
                     protein SQM1; NADH dehydrogenase (ubiquinone) 1 beta
                     subcomplex, 7, 18kDa"
                     /codon_start=1
                     /product="NADH dehydrogenase [ubiquinone] 1 beta
                     subcomplex subunit 7"
                     /protein_id="NP_004137.2"
                     /db_xref="CCDS:CCDS12314.1"
                     /db_xref="GeneID:4713"
                     /db_xref="HGNC:HGNC:7702"
                     /db_xref="MIM:603842"
                     /translation="MGAHLVRRYLGDASVEPDPLQMPTFPPDYGFPERKEREMVATQQ
                     EMMDAQLRLQLRDYCAHHLIRLLKCKRDSFPNFLACKQERHDWDYCEHRDYVMRMKEF
                     ERERRLLQRKKRREKKAAELAKGQGPGEVDPKVAL"
     exon            179..347
                     /gene="NDUFB7"
                     /gene_synonym="B18; CI-B18; MC1DN39"
                     /inference="alignment:Splign:2.1.0"
     exon            348..535
                     /gene="NDUFB7"
                     /gene_synonym="B18; CI-B18; MC1DN39"
                     /inference="alignment:Splign:2.1.0"
     regulatory      512..517
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFB7"
                     /gene_synonym="B18; CI-B18; MC1DN39"
                     /note="hexamer: AATAAA"
     polyA_site      535
                     /gene="NDUFB7"
                     /gene_synonym="B18; CI-B18; MC1DN39"
                     /note="major polyA site"
ORIGIN      
        1 gtcagtggtt ccgggtagga gctaggtgac cctcggctgc tgcagggatc tgcagcgact
       61 gcagccatgg gggcccacct ggtccggcgc tacctgggcg atgcctcggt ggagcccgac
      121 cccctgcaga tgccaacctt cccgccagac tacggcttcc ccgaacgcaa ggagcgcgag
      181 atggtggcca cacagcagga gatgatggac gcgcagctga ggctccagct gcgggactac
      241 tgcgcccacc acctcatccg gctgctcaag tgcaagcgtg acagcttccc caacttcctg
      301 gcctgcaagc aggagcggca cgactgggac tactgcgagc accgcgacta tgtgatgcgc
      361 atgaaggagt ttgagcggga gcggaggctg ctccagcgga agaagcggcg ggagaagaag
      421 gcggcagagt tggccaaagg ccagggaccc ggggaagtgg accccaaggt ggccctgtag
      481 ggggtgcacc ccccacccta tggaccagtc aaataaaagc cttcaggccc ctcaa
//
