LOCUS       NM_002492               4199 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens NADH:ubiquinone oxidoreductase subunit B5 (NDUFB5),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_002492
VERSION     NM_002492.4
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 4199)
  AUTHORS   Wang,T., Li,X., Tao,Y., Wang,X., Li,L. and Liu,J.
  TITLE     METTL3-mediated NDUFB5 m6A modification promotes cell migration and
            mitochondrial respiration to promote the wound healing of diabetic
            foot ulcer
  JOURNAL   J Transl Med 22 (1), 643 (2024)
   PUBMED   38982516
  REMARK    GeneRIF: METTL3-mediated NDUFB5 m6A modification promotes cell
            migration and mitochondrial respiration to promote the wound
            healing of diabetic foot ulcer.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4199)
  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 4199)
  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 4199)
  AUTHORS   Kang,K., Li,J., Li,R., Xu,X., Liu,J., Qin,L., Huang,T., Wu,J.,
            Jiao,M., Wei,M., Wang,H., Wang,T. and Zhang,Q.
  TITLE     Potentially Critical Roles of NDUFB5, TIMMDC1, and VDAC3 in the
            Progression of Septic Cardiomyopathy Through Integrated
            Bioinformatics Analysis
  JOURNAL   DNA Cell Biol 39 (1), 105-117 (2020)
   PUBMED   31794266
  REMARK    GeneRIF: Data suggest that the hub genes NADH:ubiquinone
            oxidoreductase subunit B5 (NDUFB5), translocase of inner
            mitochondrial membrane domain containing 1 (TIMMDC1), and
            voltage-dependent anion channel 3 (VDAC3) might serve as potential
            biomarkers for diagnosis and/or therapeutic targets for precise
            treatment of septic cardiomyopathy (SC) .
REFERENCE   5  (bases 1 to 4199)
  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   6  (bases 1 to 4199)
  AUTHORS   Starr,J.M., Shiels,P.G., Harris,S.E., Pattie,A., Pearce,M.S.,
            Relton,C.L. and Deary,I.J.
  TITLE     Oxidative stress, telomere length and biomarkers of physical aging
            in a cohort aged 79 years from the 1932 Scottish Mental Survey
  JOURNAL   Mech Ageing Dev 129 (12), 745-751 (2008)
   PUBMED   18977241
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 4199)
  AUTHORS   Harris,S.E., Fox,H., Wright,A.F., Hayward,C., Starr,J.M.,
            Whalley,L.J. and Deary,I.J.
  TITLE     A genetic association analysis of cognitive ability and cognitive
            ageing using 325 markers for 109 genes associated with oxidative
            stress or cognition
  JOURNAL   BMC Genet 8, 43 (2007)
   PUBMED   17601350
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 4199)
  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 4199)
  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 4199)
  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 DA112751.1, BC009796.1,
            CD364869.1 and AC090425.15.
            
            On Nov 23, 2018 this sequence version replaced NM_002492.3.
            
            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. Three transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Jan 2011].
            
            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 :: BF575756.1, SRR1803615.98981.1
                                           [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                 :: ENST00000259037.8/
                                                  ENSP00000259037.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-580               DA112751.1         11-590
            581-1037            BC009796.1         583-1039
            1038-1052           CD364869.1         18-32               c
            1053-4199           AC090425.15        15765-18911         c
FEATURES             Location/Qualifiers
     source          1..4199
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.33"
     gene            1..4199
                     /gene="NDUFB5"
                     /gene_synonym="CISGDH; SGDH"
                     /note="NADH:ubiquinone oxidoreductase subunit B5"
                     /db_xref="GeneID:4711"
                     /db_xref="HGNC:HGNC:7700"
                     /db_xref="MIM:603841"
     exon            1..146
                     /gene="NDUFB5"
                     /gene_synonym="CISGDH; SGDH"
                     /inference="alignment:Splign:2.1.0"
     CDS             23..592
                     /gene="NDUFB5"
                     /gene_synonym="CISGDH; SGDH"
                     /EC_number="7.1.1.2"
                     /EC_number="1.6.99.3"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; complex I SGDH subunit; NADH-ubiquinone
                     oxidoreductase SGDH subunit; complex I-SGDH; NADH
                     dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa"
                     /codon_start=1
                     /product="NADH dehydrogenase [ubiquinone] 1 beta
                     subcomplex subunit 5, mitochondrial isoform 1 precursor"
                     /protein_id="NP_002483.1"
                     /db_xref="CCDS:CCDS3234.1"
                     /db_xref="GeneID:4711"
                     /db_xref="HGNC:HGNC:7700"
                     /db_xref="MIM:603841"
                     /translation="MAAMSLLRRVSVTAVAALSGRPLGTRLGFGGFLTRGFPKAAAPV
                     RHSGDHGKRLFVIRPSRFYDRRFLKLLRFYIALTGIPVAIFITLVNVFIGQAELAEIP
                     EGYVPEHWEYYKHPISRWIARNFYDSPEKIYERTMAVLQIEAEKAELRVKELEVRKLM
                     HVRGDGPWYYYETIDKELIDHSPKATPDN"
     exon            147..235
                     /gene="NDUFB5"
                     /gene_synonym="CISGDH; SGDH"
                     /inference="alignment:Splign:2.1.0"
     exon            236..302
                     /gene="NDUFB5"
                     /gene_synonym="CISGDH; SGDH"
                     /inference="alignment:Splign:2.1.0"
     exon            303..364
                     /gene="NDUFB5"
                     /gene_synonym="CISGDH; SGDH"
                     /inference="alignment:Splign:2.1.0"
     exon            365..471
                     /gene="NDUFB5"
                     /gene_synonym="CISGDH; SGDH"
                     /inference="alignment:Splign:2.1.0"
     exon            472..4199
                     /gene="NDUFB5"
                     /gene_synonym="CISGDH; SGDH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1031..1036
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFB5"
                     /gene_synonym="CISGDH; SGDH"
                     /note="hexamer: AGTAAA"
     regulatory      1035..1040
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFB5"
                     /gene_synonym="CISGDH; SGDH"
                     /note="hexamer: AACAAA"
     polyA_site      1052
                     /gene="NDUFB5"
                     /gene_synonym="CISGDH; SGDH"
                     /note="major polyA site"
     polyA_site      1055
                     /gene="NDUFB5"
                     /gene_synonym="CISGDH; SGDH"
     regulatory      4177..4182
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFB5"
                     /gene_synonym="CISGDH; SGDH"
                     /note="hexamer: AATAAA"
     polyA_site      4199
                     /gene="NDUFB5"
                     /gene_synonym="CISGDH; SGDH"
ORIGIN      
        1 cttcctcctg cccgtagtag ccatggcggc catgagtttg ttgcggcggg tttcggttac
       61 tgcggtggca gctctgtctg gccggcccct tggcactcgc ctcggatttg ggggcttcct
      121 cactcgtggc tttccgaagg ctgctgctcc tgttcgacac agtggagacc atgggaaaag
      181 actatttgtc atcagacctt ctagattcta tgacaggcgt tttttgaagt tattgagatt
      241 ctacattgca ttgactggga ttccagtagc aattttcata actctggtga atgtattcat
      301 tggtcaagct gaactagcag aaattccaga aggctatgtc ccagaacact gggaatatta
      361 taagcatccc atatcaagat ggattgcccg taatttctat gatagtcctg aaaagatata
      421 tgaaagaaca atggccgtcc ttcagattga agctgaaaag gctgaattac gggtaaagga
      481 gctggaagtg cgaaaattga tgcatgtgag aggagatgga ccctggtatt actatgagac
      541 aattgacaag gaacttattg atcattctcc gaaagcaact cctgacaatt aagcattttt
      601 ttctccaaat acaaagtata ttctctttat tggaaaataa attaataaat atattctgta
      661 tttttgctct ccgtgaaaaa caaaagagcc tctgacatta ctgtctctca gtgttggttc
      721 agattgaggc ttttgtttga ggagtttggc ttccagtccc caaagaaggt ttaaaatgta
      781 ctaataaaaa ctggagaaat aggaatttgt gaactcctaa aattgtagca actttgaaag
      841 gttagtgttt tatttacctg acaaatggaa gttatagaag tctaataatg ttaagcacca
      901 gtaattatag tattttgtac aaatgcctgt actgtagatg tctgtattat tgaggggcaa
      961 ctcaggattt taagttccat aaagtattga accaactcta aaatgttaac tccttaataa
     1021 acagattctc agtaaacaaa ttttaaagtt tataatgctt tcatggtttt tttttttgcc
     1081 atgtattgtt cttttttaaa ctacacacag acacacagac acgtacacac acacacacac
     1141 acacacacac acacacgctc ttttcctaga tgcaatctct gggatccctt agagtccttt
     1201 tttggggaag tagttgcact aggtaatgtg attcctgcag agattataaa atgtgagtaa
     1261 aagctaaaaa tgactcattt attaagcatt tattgtctgc tagacactat attaaataac
     1321 tgcatttttt aacattattt tcttttcttt tttttttttt ttttttttga cgaaatcttg
     1381 cactgtcacc caggctagag tgcagtgccg tgatctcggc tgcaacctcc gcctcccggg
     1441 ttcaagcaat tcttgtctca gcctcccaag tagctgggat tacaggcacc caccaccaca
     1501 cccggctaat ttttgtattt ttcagtaaag actgtttcgc tgtgttggcc aggctggtct
     1561 tgaacttctg acctcaggtg attggcctgt ctccacttcc caaagtgctg attacaggcc
     1621 tgagccactg cacccaacat tattttcaaa atgacaagag gtagtattta gtacctgagg
     1681 ctcagatgtt aaacacaaac tcagtattta caaaaataaa catttaaaac atttacactt
     1741 caacttccaa aatggctttt taccataaac attcaggatt ttcaaacctg taacagctta
     1801 tcaatgcatc tcatcttaga agtatgtttt acattcttca taaaaataaa aatgaaccca
     1861 ggcttcctaa gattcaggcc agtgggtctc cacttaaggc caaatggaga aataattttt
     1921 tgctgcctaa acacacaagt gaattgaaaa gccacaggcc attcattcaa caaataactt
     1981 tattattttt attgataatg tacttgtaat gtgctatttt gatacatgta tgcaaagtat
     2041 aatggtcaaa tcagggtatt tgaatataca tatatttcaa aatatagtta tatatttcaa
     2101 aataagatat agcaagttag aagtatatat aagtatatta ttatatgtta ttgttaacta
     2161 taatttacct actgtactat caaatactag aacttattcc ttgtatctaa atgtattctt
     2221 gtaaccatta actaactttt ctgaatttcc tactctcccc ttcccttccc agccttgtaa
     2281 ccacctttct actctgcctc catgagaccc attttttaat ctcccacata tgagtgagaa
     2341 cattcaatat ttgtctttct aggcttggct tatttcactt acattaatga cctccagttc
     2401 catccatgtt gctacaaatg acagaatccc attctttttc ataatattgt ccatacatac
     2461 cacattttct atatccattt atctgttgat ggacacaggt tgcaaaggga ttgctggatt
     2521 gtatgataat tctatgtgta gtttcttgag gaaccttcat ggtgttcttc atagtggttg
     2581 tactactgta cattcctacc aatggtggat gagcgttccc ctttctccac atcctcacaa
     2641 gcatttgtta ttttttcttt tttttcaaat gaacatttta actggggtga gatatcttaa
     2701 tgtggtattg gtttacattt ccctaattat ggttgagcat tttttcacat atctaatggc
     2761 cattcatatg tcttcctttg agaaatgtct atacagatct ctggcccttt ttttaaattt
     2821 tttttttttt tgaattgggg tcacccagtc tggaggtgat ctgggcttcc acatcctggg
     2881 ctcaagtgat cattccacct caggatgacc caaatagcta ggaccaaagg cgagtgccac
     2941 catgctcagc taattttttt gtattttttg tagcgactgg gtttcaccat gttgcccagg
     3001 ctggtcttga actcctgtgc tcaagtgatc cgctcacctt ggcctctcaa agtgcaggta
     3061 ctttaggcgt gcctggcctt tttgtccatt ttattttttt gagatggagt cttgctgtgt
     3121 cacccaggct ggagtgcagt ggtgcgatct cgactcagtg caacctccgc ctcccaggtt
     3181 caagcaattc tcctgcctca gcctcctgag tagctgggat tacaggtgtg caccaccaca
     3241 cccagctaat ttttttgtat ttttagtaga gagggggtgt caccatgttg gccagggtga
     3301 tcttgaactt ctgaccttgt gatccaccca ccttggtctc ccaaagtgct gggattacag
     3361 gtgtgagcca ctgcgcccag cctgtccatt ttttaatcag gttatgggtt ttttgctatt
     3421 gaattgtttg agttccttat atattctggt tatgaatccc ttgttagatg gtgtgttagg
     3481 ccattcttgt gttgctataa agaaaatcct gagtctgggt aatttataaa gaaaaaaggt
     3541 gtaaatggct catagttctg cagactgtac aggaagcatg gcaccagcat tgcttggctt
     3601 ctggggaggc ctcaaggaac tttcactcat agcagaaagc aaagcaggag caggcacatc
     3661 acatggcaag agagcaagag agagaggtgg aggagatgcc acacactgtt ttaaacaacc
     3721 agatctctca ggaactcatt gttgttagaa aaggaattaa aagaaatcaa agagtgtgta
     3781 agcagaaact cagttgtacg taagaaaacc caattccccc tgagaaagag aaagagctgg
     3841 agtcctttaa aaattcactg cctgtttttc tggtggctag tgagtgttag ctctcctccc
     3901 ttcccaggca ttgtgaagac cctgtttccc tagctgtgca gctgcaaggt cactagacag
     3961 ataaactcaa gtcgcaaaac atgtttttcc ttgaaaagta agaaatgatg taatgcatgt
     4021 cttgactgaa taactgtctt tgtttcttgc ttctgtaata tgcttccccc tgcacagatc
     4081 tccccctgcc ccacgaaatg cttaaaagct aacttaactc tttgttcagg gctcagtcct
     4141 ttggatgtta atctgactgg gccggagcac ctaaataata aatattctcc tgaacccca
//
