LOCUS       NM_002491                493 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens NADH:ubiquinone oxidoreductase subunit B3 (NDUFB3),
            transcript variant 1, mRNA.
ACCESSION   NM_002491
VERSION     NM_002491.3
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 493)
  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 493)
  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   3  (bases 1 to 493)
  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   4  (bases 1 to 493)
  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   5  (bases 1 to 493)
  AUTHORS   Calvo,S.E., Compton,A.G., Hershman,S.G., Lim,S.C., Lieber,D.S.,
            Tucker,E.J., Laskowski,A., Garone,C., Liu,S., Jaffe,D.B.,
            Christodoulou,J., Fletcher,J.M., Bruno,D.L., Goldblatt,J.,
            Dimauro,S., Thorburn,D.R. and Mootha,V.K.
  TITLE     Molecular diagnosis of infantile mitochondrial disease with
            targeted next-generation sequencing
  JOURNAL   Sci Transl Med 4 (118), 118ra10 (2012)
   PUBMED   22277967
  REMARK    GeneRIF: Recessive mutations in NDUFB3 cause complex I deficiency
REFERENCE   6  (bases 1 to 493)
  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   7  (bases 1 to 493)
  AUTHORS   Hadano,S., Yanagisawa,Y., Skaug,J., Fichter,K., Nasir,J.,
            Martindale,D., Koop,B.F., Scherer,S.W., Nicholson,D.W.,
            Rouleau,G.A., Ikeda,J. and Hayden,M.R.
  TITLE     Cloning and characterization of three novel genes, ALS2CR1,
            ALS2CR2, and ALS2CR3, in the juvenile amyotrophic lateral sclerosis
            (ALS2) critical region at chromosome 2q33-q34: candidate genes for
            ALS2
  JOURNAL   Genomics 71 (2), 200-213 (2001)
   PUBMED   11161814
REFERENCE   8  (bases 1 to 493)
  AUTHORS   Jensen,L.L., Nielsen,M.M., Justesen,J. and Hansen,L.L.
  TITLE     Assignment of human NADH dehydrogenase (ubiquinone) 1 beta
            subcomplex 3 (NDUFB3) and of its four pseudogenes to human
            chromosomes 2q31.3, 1p13.3-->p13.1, 9q32-->q34.1, 14q22.3-->q23.1
            and 14q32.2 by radiation hybrid mapping
  JOURNAL   Cytogenet Cell Genet 93 (1-2), 147-150 (2001)
   PUBMED   11474204
REFERENCE   9  (bases 1 to 493)
  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 493)
  AUTHORS   Ton,C., Hwang,D.M., Dempsey,A.A. and Liew,C.C.
  TITLE     Identification and primary structure of five human NADH-ubiquinone
            oxidoreductase subunits
  JOURNAL   Biochem Biophys Res Commun 241 (2), 589-594 (1997)
   PUBMED   9425316
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC018183.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_002491.2.
            
            Summary: This gene encodes an accessory subunit of the
            mitochondrial membrane respiratory chain NADH dehydrogenase
            (Complex I) which is the first enzyme in the electron transport
            chain of mitochondria. This protein localizes to the inner membrane
            of the mitochondrion as a single-pass membrane protein. Mutations
            in this gene contribute to mitochondrial complex 1 deficiency.
            Alternative splicing results in multiple transcript variants
            encoding the same protein. Humans have multiple pseudogenes of this
            gene. [provided by RefSeq, Mar 2012].
            
            Transcript Variant: This variant (1) lacks an exon in the 5' UTR,
            compared to variant 2. Variants 1 and 2 encode the same protein.
            
            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 :: BC018183.1, ERR279858.478.1
                                           [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                 :: ENST00000237889.9/
                                                  ENSP00000237889.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-493               BC018183.1         211-703
FEATURES             Location/Qualifiers
     source          1..493
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33.1"
     gene            1..493
                     /gene="NDUFB3"
                     /gene_synonym="B12; CI-B12; MC1DN25"
                     /note="NADH:ubiquinone oxidoreductase subunit B3"
                     /db_xref="GeneID:4709"
                     /db_xref="HGNC:HGNC:7698"
                     /db_xref="MIM:603839"
     exon            1..59
                     /gene="NDUFB3"
                     /gene_synonym="B12; CI-B12; MC1DN25"
                     /inference="alignment:Splign:2.1.0"
     exon            60..201
                     /gene="NDUFB3"
                     /gene_synonym="B12; CI-B12; MC1DN25"
                     /inference="alignment:Splign:2.1.0"
     CDS             62..358
                     /gene="NDUFB3"
                     /gene_synonym="B12; CI-B12; MC1DN25"
                     /EC_number="1.6.99.3"
                     /note="complex I-B12; NADH-ubiquinone oxidoreductase B12
                     subunit; NADH dehydrogenase (ubiquinone) 1 beta
                     subcomplex, 3, 12kDa"
                     /codon_start=1
                     /product="NADH dehydrogenase [ubiquinone] 1 beta
                     subcomplex subunit 3"
                     /protein_id="NP_002482.1"
                     /db_xref="CCDS:CCDS2336.1"
                     /db_xref="GeneID:4709"
                     /db_xref="HGNC:HGNC:7698"
                     /db_xref="MIM:603839"
                     /translation="MAHEHGHEHGHHKMELPDYRQWKIEGTPLETIQKKLAAKGLRDP
                     WGRNEAWRYMGGFAKSVSFSDVFFKGFKWGFAAFVVAVGAEYYLESLNKDKKHH"
     exon            202..493
                     /gene="NDUFB3"
                     /gene_synonym="B12; CI-B12; MC1DN25"
                     /inference="alignment:Splign:2.1.0"
     regulatory      476..481
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFB3"
                     /gene_synonym="B12; CI-B12; MC1DN25"
                     /note="hexamer: AATATA"
     polyA_site      493
                     /gene="NDUFB3"
                     /gene_synonym="B12; CI-B12; MC1DN25"
                     /note="major polyA site"
ORIGIN      
        1 cgtttccggt tggctccggt tgcagagttg agtgtcctga gaggtcagat tgctgtcaga
       61 catggcccat gaacatggac atgagcatgg acatcataaa atggaacttc cagattatag
      121 acaatggaag atagaaggga caccattaga aactatccag aagaagctgg ctgcaaaagg
      181 gctaagggat ccatggggcc gcaatgaagc ttggagatac atgggtggct ttgcaaagag
      241 tgtttccttt tctgatgtat tctttaaagg attcaaatgg ggatttgctg catttgtggt
      301 agctgtagga gctgaatatt acctggagtc cctgaataaa gataagaagc atcactgaag
      361 ataatacctg gaagcatcat agtggtttct taactctcca aaataagatt tcttctctgt
      421 agcctacttg tctggtttat cccttacaga atattagtaa gatttaatca attaaaatat
      481 atatatatgc caa
//
