LOCUS       NM_004547                651 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens NADH:ubiquinone oxidoreductase subunit B4 (NDUFB4),
            transcript variant 1, mRNA.
ACCESSION   NM_004547 XM_001125915
VERSION     NM_004547.6
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 651)
  AUTHORS   Parmar,G., Fong-McMaster,C., Pileggi,C.A., Patten,D.A.,
            Cuillerier,A., Myers,S., Wang,Y., Hekimi,S., Cuperlovic-Culf,M. and
            Harper,M.E.
  TITLE     Accessory subunit NDUFB4 participates in mitochondrial complex I
            supercomplex formation
  JOURNAL   J Biol Chem 300 (2), 105626 (2024)
   PUBMED   38211818
  REMARK    GeneRIF: Accessory subunit NDUFB4 participates in mitochondrial
            complex I supercomplex formation.
REFERENCE   2  (bases 1 to 651)
  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 651)
  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   4  (bases 1 to 651)
  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   5  (bases 1 to 651)
  AUTHORS   Stroud,D.A., Surgenor,E.E., Formosa,L.E., Reljic,B., Frazier,A.E.,
            Dibley,M.G., Osellame,L.D., Stait,T., Beilharz,T.H., Thorburn,D.R.,
            Salim,A. and Ryan,M.T.
  TITLE     Accessory subunits are integral for assembly and function of human
            mitochondrial complex I
  JOURNAL   Nature 538 (7623), 123-126 (2016)
   PUBMED   27626371
REFERENCE   6  (bases 1 to 651)
  AUTHORS   Ma,J., Dempsey,A.A., Stamatiou,D., Marshall,K.W. and Liew,C.C.
  TITLE     Identifying leukocyte gene expression patterns associated with
            plasma lipid levels in human subjects
  JOURNAL   Atherosclerosis 191 (1), 63-72 (2007)
   PUBMED   16806233
REFERENCE   7  (bases 1 to 651)
  AUTHORS   Murray,J., Taylor,S.W., Zhang,B., Ghosh,S.S. and Capaldi,R.A.
  TITLE     Oxidative damage to mitochondrial complex I due to peroxynitrite:
            identification of reactive tyrosines by mass spectrometry
  JOURNAL   J Biol Chem 278 (39), 37223-37230 (2003)
   PUBMED   12857734
REFERENCE   8  (bases 1 to 651)
  AUTHORS   Murray,J., Zhang,B., Taylor,S.W., Oglesbee,D., Fahy,E.,
            Marusich,M.F., Ghosh,S.S. and Capaldi,R.A.
  TITLE     The subunit composition of the human NADH dehydrogenase obtained by
            rapid one-step immunopurification
  JOURNAL   J Biol Chem 278 (16), 13619-13622 (2003)
   PUBMED   12611891
REFERENCE   9  (bases 1 to 651)
  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   10 (bases 1 to 651)
  AUTHORS   Mao,M., Fu,G., Wu,J.S., Zhang,Q.H., Zhou,J., Kan,L.X., Huang,Q.H.,
            He,K.L., Gu,B.W., Han,Z.G., Shen,Y., Gu,J., Yu,Y.P., Xu,S.H.,
            Wang,Y.X., Chen,S.J. and Chen,Z.
  TITLE     Identification of genes expressed in human CD34(+) hematopoietic
            stem/progenitor cells by expressed sequence tags and efficient
            full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 95 (14), 8175-8180 (1998)
   PUBMED   9653160
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC146885.1 and AC126182.2.
            
            On Nov 22, 2018 this sequence version replaced NM_004547.5.
            
            Summary: This gene encodes a non-catalytic subunit of the
            multisubunit NADH:ubiquinone oxidoreductase, the first enzyme
            complex in the mitochondrial electron transport chain (complex I).
            Mammalian complex I is composed of 45 different subunits and
            transfers electrons from NADH to ubiquinone. [provided by RefSeq,
            Dec 2009].
            
            Transcript Variant: This variant (1) represents the shorter
            transcript but encodes the longer isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: BU164045.1, BC146885.1 [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                 :: ENST00000184266.3/
                                                  ENSP00000184266.2
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-555               BC146885.1         27-581
            556-651             AC126182.2         44065-44160         c
FEATURES             Location/Qualifiers
     source          1..651
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q13.33"
     gene            1..651
                     /gene="NDUFB4"
                     /gene_synonym="B15; CI-B15"
                     /note="NADH:ubiquinone oxidoreductase subunit B4"
                     /db_xref="GeneID:4710"
                     /db_xref="HGNC:HGNC:7699"
                     /db_xref="MIM:603840"
     exon            1..204
                     /gene="NDUFB4"
                     /gene_synonym="B15; CI-B15"
                     /inference="alignment:Splign:2.1.0"
     CDS             25..414
                     /gene="NDUFB4"
                     /gene_synonym="B15; CI-B15"
                     /EC_number="7.1.1.2"
                     /EC_number="1.6.99.3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     complex I B15 subunit; NADH dehydrogenase [ubiquinone] 1
                     beta subcomplex subunit 4; NADH-ubiquinone oxidoreductase
                     B15 subunit; complex I-B15; NADH dehydrogenase
                     (ubiquinone) 1 beta subcomplex, 4, 15kDa"
                     /codon_start=1
                     /product="NADH dehydrogenase [ubiquinone] 1 beta
                     subcomplex subunit 4 isoform 1"
                     /protein_id="NP_004538.2"
                     /db_xref="CCDS:CCDS2999.1"
                     /db_xref="GeneID:4710"
                     /db_xref="HGNC:HGNC:7699"
                     /db_xref="MIM:603840"
                     /translation="MSFPKYKPSSLRTLPETLDPAEYNISPETRRAQAERLAIRAQLK
                     REYLLQYNDPNRRGLIENPALLRWAYARTINVYPNFRPTPKNSLMGALCGFGPLIFIY
                     YIIKTERDRKEKLIQEGKLDRTFHLSY"
     exon            205..351
                     /gene="NDUFB4"
                     /gene_synonym="B15; CI-B15"
                     /inference="alignment:Splign:2.1.0"
     exon            352..651
                     /gene="NDUFB4"
                     /gene_synonym="B15; CI-B15"
                     /inference="alignment:Splign:2.1.0"
     regulatory      449..454
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFB4"
                     /gene_synonym="B15; CI-B15"
                     /note="hexamer: AATAAA"
     polyA_site      472
                     /gene="NDUFB4"
                     /gene_synonym="B15; CI-B15"
                     /note="major polyA site"
     regulatory      626..631
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFB4"
                     /gene_synonym="B15; CI-B15"
                     /note="hexamer: ATTAAA"
     polyA_site      651
                     /gene="NDUFB4"
                     /gene_synonym="B15; CI-B15"
ORIGIN      
        1 gcaattgtgc cctggttcgc caagatgtcg ttcccaaagt ataagccgtc gagcctgcgc
       61 actctgcctg agaccctcga cccagccgaa tacaacatat ctccggaaac ccggcgggcg
      121 caagccgagc ggttggccat aagagcccag ctgaaacgag agtacctgct tcagtacaac
      181 gatcccaacc gccgagggct catcgaaaat cctgccttgc ttcgttgggc ctatgcaaga
      241 acaataaatg tctatcctaa tttcagaccc actcctaaaa actcactcat gggagctctg
      301 tgtggatttg ggcccctcat cttcatttat tatattatca aaactgagag ggataggaaa
      361 gaaaaactta tccaggaagg aaaattggat cgaacatttc acctctcata ttaagtctgg
      421 caatgatgac tatatgtatt cctgcctaaa taaatcatct attaatcatt aagtagtagt
      481 ttctctttct tagtattacc ttgattcaat gttaaaaact attaacaccc taacaacaca
      541 gaagcagacg cagcccgtgt tgggaatctg ctgtcagagt gacagcaaac atttgctgta
      601 cattgaatga atgaacataa acttcattaa actgtgagct cttagaaagt a
//
