LOCUS       NM_005005                691 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens NADH:ubiquinone oxidoreductase subunit B9 (NDUFB9),
            transcript variant 1, mRNA.
ACCESSION   NM_005005
VERSION     NM_005005.3
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 691)
  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 691)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 691)
  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   4  (bases 1 to 691)
  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   5  (bases 1 to 691)
  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   6  (bases 1 to 691)
  AUTHORS   Ye,Z. and Connor,J.R.
  TITLE     cDNA cloning by amplification of circularized first strand cDNAs
            reveals non-IRE-regulated iron-responsive mRNAs
  JOURNAL   Biochem Biophys Res Commun 275 (1), 223-227 (2000)
   PUBMED   10944468
REFERENCE   7  (bases 1 to 691)
  AUTHORS   Lin,X., Wells,D.E., Kimberling,W.J. and Kumar,S.
  TITLE     Human NDUFB9 gene: genomic organization and a possible candidate
            gene associated with deafness disorder mapped to chromosome 8q13
  JOURNAL   Hum Hered 49 (2), 75-80 (1999)
   PUBMED   10077726
REFERENCE   8  (bases 1 to 691)
  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 691)
  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 691)
  AUTHORS   Gu,J.Z., Lin,X. and Wells,D.E.
  TITLE     The human B22 subunit of the NADH-ubiquinone oxidoreductase maps to
            the region of chromosome 8 involved in branchio-oto-renal syndrome
  JOURNAL   Genomics 35 (1), 6-10 (1996)
   PUBMED   8661098
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AI907018.1 and AF261090.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_005005.2.
            
            Summary: The protein encoded by this gene is a subunit of the
            mitochondrial oxidative phosphorylation complex I (nicotinamide
            adenine dinucleotide: ubiquinone oxidoreductase). Complex I is
            localized to the inner mitochondrial membrane and functions to
            dehydrogenate nicotinamide adenine dinucleotide and to shuttle
            electrons to coenzyme Q. Complex I deficiency is the most common
            defect found in oxidative phosphorylation disorders and results in
            a range of conditions, including lethal neonatal disease,
            hypertrophic cardiomyopathy, liver disease, and adult-onset
            neurodegenerative disorders. Pseudogenes of this gene are found on
            chromosomes five, seven and eight. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Jul 2015].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and 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 :: SRR1660805.78573.1,
                                           SRR5189661.147724.1 [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                 :: ENST00000276689.8/
                                                  ENSP00000276689.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-165               AI907018.1         39-203
            166-691             AF261090.1         186-711
FEATURES             Location/Qualifiers
     source          1..691
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.13"
     gene            1..691
                     /gene="NDUFB9"
                     /gene_synonym="B22; CI-B22; LYRM3; MC1DN24; UQOR22"
                     /note="NADH:ubiquinone oxidoreductase subunit B9"
                     /db_xref="GeneID:4715"
                     /db_xref="HGNC:HGNC:7704"
                     /db_xref="MIM:601445"
     exon            1..165
                     /gene="NDUFB9"
                     /gene_synonym="B22; CI-B22; LYRM3; MC1DN24; UQOR22"
                     /inference="alignment:Splign:2.1.0"
     CDS             65..604
                     /gene="NDUFB9"
                     /gene_synonym="B22; CI-B22; LYRM3; MC1DN24; UQOR22"
                     /note="isoform 1 is encoded by transcript variant 1;
                     complex I B22 subunit; LYR motif-containing protein 3;
                     NADH-ubiquinone oxidoreductase B22 subunit; NADH
                     dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa"
                     /codon_start=1
                     /product="NADH dehydrogenase [ubiquinone] 1 beta
                     subcomplex subunit 9 isoform 1"
                     /protein_id="NP_004996.1"
                     /db_xref="CCDS:CCDS6352.1"
                     /db_xref="GeneID:4715"
                     /db_xref="HGNC:HGNC:7704"
                     /db_xref="MIM:601445"
                     /translation="MAFLASGPYLTHQQKVLRLYKRALRHLESWCVQRDKYRYFACLM
                     RARFEEHKNEKDMAKATQLLKEAEEEFWYRQHPQPYIFPDSPGGTSYERYDCYKVPEW
                     CLDDWHPSEKAMYPDYFAKREQWKKLRRESWEREVKQLQEETPPGGPLTEALPPARKE
                     GDLPPLWWYIVTRPRERPM"
     exon            166..358
                     /gene="NDUFB9"
                     /gene_synonym="B22; CI-B22; LYRM3; MC1DN24; UQOR22"
                     /inference="alignment:Splign:2.1.0"
     exon            359..472
                     /gene="NDUFB9"
                     /gene_synonym="B22; CI-B22; LYRM3; MC1DN24; UQOR22"
                     /inference="alignment:Splign:2.1.0"
     exon            473..691
                     /gene="NDUFB9"
                     /gene_synonym="B22; CI-B22; LYRM3; MC1DN24; UQOR22"
                     /inference="alignment:Splign:2.1.0"
     regulatory      669..674
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFB9"
                     /gene_synonym="B22; CI-B22; LYRM3; MC1DN24; UQOR22"
                     /note="hexamer: AATAAA"
     polyA_site      691
                     /gene="NDUFB9"
                     /gene_synonym="B22; CI-B22; LYRM3; MC1DN24; UQOR22"
                     /note="major polyA site"
ORIGIN      
        1 agtcacccgc agcaggcgtg cagtttcccg gctctccgcg cggccgggga aggtcagcgc
       61 cgtaatggcg ttcttggcgt cgggacccta cctgacccat cagcaaaagg tgttgcggct
      121 ttataagcgg gcgctacgcc acctcgagtc gtggtgcgtc cagagagaca aataccgata
      181 ctttgcttgt ttgatgagag cccggtttga agaacataag aatgaaaagg atatggcgaa
      241 ggccacccag ctgctgaagg aggccgagga agaattctgg taccgtcagc atccacagcc
      301 atacatcttc cctgactctc ctgggggcac ctcctatgag agatacgatt gctacaaggt
      361 cccagaatgg tgcttagatg actggcatcc ttctgagaag gcaatgtatc ctgattactt
      421 tgccaagaga gaacagtgga agaaactgcg gagggaaagc tgggaacgag aggttaagca
      481 gctgcaggag gaaacgccac ctggtggtcc tttaactgaa gctttgcccc ctgcccgaaa
      541 ggaaggtgat ttgcccccac tgtggtggta tattgtgacc agaccccggg agcggcccat
      601 gtagaaagag agagacctca tctttcatgc ttgcaagtga aatatgttac agaacatgca
      661 cttgccctaa taaaaaatca gtgaaatggt c
//
