LOCUS       NM_005000               5496 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens NADH:ubiquinone oxidoreductase subunit A5 (NDUFA5),
            transcript variant 1, mRNA.
ACCESSION   NM_005000
VERSION     NM_005000.5
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 5496)
  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 5496)
  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 5496)
  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 5496)
  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 5496)
  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 5496)
  AUTHORS   Tensing,K., Pata,I., Wittig,I., Wehnert,M. and Metspalu,A.
  TITLE     Genomic organization of the human complex I 13-kDa subunit gene
            NDUFA5
  JOURNAL   Cytogenet Cell Genet 84 (1-2), 125-127 (1999)
   PUBMED   10343126
REFERENCE   7  (bases 1 to 5496)
  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   8  (bases 1 to 5496)
  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   9  (bases 1 to 5496)
  AUTHORS   Pata,I., Tensing,K. and Metspalu,A.
  TITLE     A human cDNA encoding the homologue of NADH: ubiquinone
            oxidoreductase subunit B13
  JOURNAL   Biochim Biophys Acta 1350 (2), 115-118 (1997)
   PUBMED   9048877
REFERENCE   10 (bases 1 to 5496)
  AUTHORS   Russell,M.W., du Manoir,S., Collins,F.S. and Brody,L.C.
  TITLE     Cloning of the human NADH: ubiquinone oxidoreductase subunit B13:
            localization to chromosome 7q32 and identification of a pseudogene
            on 11p15
  JOURNAL   Mamm Genome 8 (1), 60-61 (1997)
   PUBMED   9021153
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC000813.1, AC073323.5 and
            CR933664.1.
            
            On Nov 22, 2018 this sequence version replaced NM_005000.4.
            
            Summary: This nuclear gene encodes a conserved protein that
            comprises the B13 subunit of complex I of the mitochondrial
            respiratory chain. The encoded protein localizes to the inner
            mitochondrial membrane, where it is thought to aid in the transfer
            of electrons from NADH to ubiquinone. Alternative splicing results
            in multiple transcript variants. There are numerous pseudogenes of
            this gene on chromosomes 1, 3, 6, 8, 9, 11, 12, and 16. [provided
            by RefSeq, Apr 2014].
            
            Transcript Variant: This variant (1) encodes 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 :: SRR14038194.580536.1,
                                           SRR14038192.3596408.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2158188, SAMN03568911
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000355749.7/
                                                  ENSP00000347988.2
            RefSeq Select criteria             :: based on manual assertion,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1464              BC000813.1         3-1466
            1465-5152           AC073323.5         105845-109532       c
            5153-5496           CR933664.1         5258-5601
FEATURES             Location/Qualifiers
     source          1..5496
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q31.32"
     gene            1..5496
                     /gene="NDUFA5"
                     /gene_synonym="B13; CI-13kB; CI-13KD-B; NUFM; UQOR13"
                     /note="NADH:ubiquinone oxidoreductase subunit A5"
                     /db_xref="GeneID:4698"
                     /db_xref="HGNC:HGNC:7688"
                     /db_xref="MIM:601677"
     exon            1..44
                     /gene="NDUFA5"
                     /gene_synonym="B13; CI-13kB; CI-13KD-B; NUFM; UQOR13"
                     /inference="alignment:Splign:2.1.0"
     CDS             24..374
                     /gene="NDUFA5"
                     /gene_synonym="B13; CI-13kB; CI-13KD-B; NUFM; UQOR13"
                     /EC_number="7.1.1.2"
                     /EC_number="1.6.99.3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     ubiquinone reductase; type I dehydrogenase; complex I
                     13kDa subunit B; NADH dehydrogenase [ubiquinone] 1 alpha
                     subcomplex subunit 5; complex I subunit B13;
                     NADH-ubiquinone oxidoreductase 13 kDa-B subunit; NADH
                     dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa"
                     /codon_start=1
                     /product="NADH dehydrogenase [ubiquinone] 1 alpha
                     subcomplex subunit 5 isoform 1"
                     /protein_id="NP_004991.1"
                     /db_xref="CCDS:CCDS5788.1"
                     /db_xref="GeneID:4698"
                     /db_xref="HGNC:HGNC:7688"
                     /db_xref="MIM:601677"
                     /translation="MAGVLKKTTGLVGLAVCNTPHERLRILYTKILDVLEEIPKNAAY
                     RKYTEQITNEKLAMVKAEPDVKKLEDQLQGGQLEEVILQAEHELNLARKMREWKLWEP
                     LVEEPPADQWKWPI"
     exon            45..89
                     /gene="NDUFA5"
                     /gene_synonym="B13; CI-13kB; CI-13KD-B; NUFM; UQOR13"
                     /inference="alignment:Splign:2.1.0"
     exon            90..206
                     /gene="NDUFA5"
                     /gene_synonym="B13; CI-13kB; CI-13KD-B; NUFM; UQOR13"
                     /inference="alignment:Splign:2.1.0"
     exon            207..272
                     /gene="NDUFA5"
                     /gene_synonym="B13; CI-13kB; CI-13KD-B; NUFM; UQOR13"
                     /inference="alignment:Splign:2.1.0"
     exon            273..5496
                     /gene="NDUFA5"
                     /gene_synonym="B13; CI-13kB; CI-13KD-B; NUFM; UQOR13"
                     /inference="alignment:Splign:2.1.0"
     regulatory      415..420
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFA5"
                     /gene_synonym="B13; CI-13kB; CI-13KD-B; NUFM; UQOR13"
                     /note="hexamer: ATTAAA"
     polyA_site      436
                     /gene="NDUFA5"
                     /gene_synonym="B13; CI-13kB; CI-13KD-B; NUFM; UQOR13"
     regulatory      1435..1440
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFA5"
                     /gene_synonym="B13; CI-13kB; CI-13KD-B; NUFM; UQOR13"
                     /note="hexamer: AATAAA"
     polyA_site      1464
                     /gene="NDUFA5"
                     /gene_synonym="B13; CI-13kB; CI-13KD-B; NUFM; UQOR13"
                     /note="major polyA site"
     regulatory      2307..2312
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFA5"
                     /gene_synonym="B13; CI-13kB; CI-13KD-B; NUFM; UQOR13"
                     /note="hexamer: ATTAAA"
     polyA_site      2330
                     /gene="NDUFA5"
                     /gene_synonym="B13; CI-13kB; CI-13KD-B; NUFM; UQOR13"
     regulatory      5474..5479
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFA5"
                     /gene_synonym="B13; CI-13kB; CI-13KD-B; NUFM; UQOR13"
                     /note="hexamer: TATAAA"
     polyA_site      5496
                     /gene="NDUFA5"
                     /gene_synonym="B13; CI-13kB; CI-13KD-B; NUFM; UQOR13"
ORIGIN      
        1 gtcaccgagt cgttggcgct gtcatggcgg gtgtgctgaa gaagaccact ggccttgtgg
       61 gattggctgt gtgcaatact cctcacgaga ggctaagaat attgtacaca aagattcttg
      121 atgttcttga ggaaatccct aaaaatgcag catatagaaa gtatacagaa cagattacaa
      181 atgagaagct ggctatggtt aaagcggaac cagatgttaa aaaattagaa gaccaacttc
      241 aaggcggtca attagaagag gtgattcttc aggctgaaca tgaactaaat ctggcaagaa
      301 aaatgaggga atggaaacta tgggagccat tagtggaaga gcctcctgcc gatcagtgga
      361 aatggccaat ataattatta agtgactttg gtgtgttcat gggaaactga tgtaattaaa
      421 tattctgtta tattaagagc gtgttcttat tactgacatt ttgtaatcaa gaaaagtgat
      481 atagaaaata tgtaggagac tgttaaaatt ggtgattatg gtaatatggt catgtgaatc
      541 aatttttgat ttataaagta ctcacacaag ttgtttcaaa gatgatattt ctgtgaacag
      601 agaggccatg ggaagatttg aaaattatta aagaaaaatt cctacagatt ttcaatgcag
      661 agaccataat caaaaagtaa actttcttta gtagtatgtt caatacatca tttaattttt
      721 taagttatcc tgaagaagga aaggtcctta attattatag tctaaacaaa tttatagatt
      781 actgtttgaa gtaaataata cgagtgaata ttttcaaatg tgataaaata gcacaagtgg
      841 ctggtgataa aatttgaaat tatggttaac ctcagctgtg atcttatgta tgtaaagtga
      901 aatttaaata gataattata ggttgattac aaaatccata gtgtcatttt attttagtca
      961 ttattgaatt ataccattta ctctgttttc ttatagtctt aattttatta tattttgttg
     1021 ttactgtatt atatttgaaa accttcaaat tagaatacat tgtacagtta aagaaattga
     1081 cttggtactt aaaagaaaga tttcccattg catacaggtt attggagaaa ttttcctttt
     1141 gttgcatttg tggaagttag ttttctggcc cgtggccttt aattttctta atcaacctaa
     1201 ttacatcagg atagaggtag agtttctgta aaagaagaga cattaagagt tcctgaaatt
     1261 tatatctggc atacggatag gcttatattc aaaacatctt agtcatacga ccataaatta
     1321 aaagtggagt cactaaatag tttgcagtac gtttctaata taagtgtagg tgggtatcaa
     1381 aacaagacaa atgctgttca gggaaagaag ttggcaagct taaggttaaa caaaaataaa
     1441 attacatgtg ttttcgcctt cctagctccc tgtcattcct aaatacttgg ttaaatttaa
     1501 cgtggtatct ctttccttca tagatagtac tatactcttg tggggttttg tgtatacgtg
     1561 tgtgtgtgtg tgtgtgtgtg tgtgtgtgtg tgtgtgtgtg tgcacgcgca tgcgcacatt
     1621 tgctcagaat gagaaaaaaa tggtattttt ccttctttcc agtatatttc tcccctcata
     1681 gagctgtaac atgaatacta aataaatatt aaataaggtg gattcttaga ggttagagtg
     1741 caagaaggct ccttctggtg gggaagtgtt agagggggag ttagaagccc agggtttctc
     1801 attctcatgg ttctagtgtt gttaactcaa tgactacatt gaggcaagtt tggcctgttt
     1861 ctcagaatgg cctatttcta atgctgcaaa agaaatagaa tatgatttat aacaacattt
     1921 tcagttctaa acatttcttg aatatataat atatttatta aaacatgatg ctgaagtgtg
     1981 tttgcatggg tactttcaag gtaattttct agccaaccat tatttttcag gtcctttgga
     2041 caacacagaa acaaagatgg cttgctgtgt ttttgtcata ttttcagtcc cgtatctgcc
     2101 atgattcttg ggcatctttt atgtttcacc aacagtgtta ctgaactttt ttgctaaaag
     2161 gggaccttac tggtgtttgc attagaaatg ctagttgcag aataatagtc attgtaaaaa
     2221 taatattata acaataatag ctaatgtttg ttgagacttt aatatgaatg tcaggcacta
     2281 tcataagtac ctgactaatt tcactcatta aacctgcact acaaccctaa gagtgatact
     2341 acaaattatc ttcattttcc agataagaaa ccagaaccct acgtgagtag ttttcccctg
     2401 caattatgca acttggggcc ttggggacac tgaaaccaag agatgattta ataacaaatc
     2461 caaggtcaca tagctagtaa gatgtgaagc tgaagtttga acccaggcag tctggttcta
     2521 gaactgatgc tcctgttata ttattattta tgaatatgct tgggatgttg tgacttcttc
     2581 ctgtgctgta tgggctgtac caaatgaaac tagatcctgc tctctttacc ttttctgtca
     2641 aaattatctg taaagaacaa atatgagcag aagtagtaaa cgatttcatt ttctgcaaag
     2701 agctgcatat aggttatagg cagattatgt taatgggata ggtatctaaa aggtattgca
     2761 atttggtcat tggttctttc tcctgtctca attgctcaca gaactttaca cctgatcgtt
     2821 tttactcctt cagtcttttc ccagttgctt cctataaaca tccaggttaa gtctcctgat
     2881 cactttgcaa atgattcttt tattcagaga tcttcagtgt tttgagtggc tactaaacta
     2941 attttaataa ttttcagaat ggcctatttc agttctccca tgggtttcat tctagttaat
     3001 catcatactg cagatacttc aaaagaaaga gaagctaatc aatttgagct ttgctaagaa
     3061 agaagaaatg gcaacaaagt tgatgccccc tttctcccac actgggactt agtgcagacg
     3121 attccaattt cttggcattc tttcctttgg gatgaaaatg gcttatattt aggataacta
     3181 taggataatt tatcattcca cttggaatga ttttgagtga aaataattac ataaggataa
     3241 cagatgtaca ccatgactgt cctgggcaaa caagatatag gggggcaccc tactggagta
     3301 aggctcaggt ctcaaggttg ccatctttcc cacaccagta ggatcaacta gtctgtcatt
     3361 ggaatagaat gaattgatgc cagcagtagt agtcatcatg tgcaatcagg cctcaagttt
     3421 tattgtatcc tttcactctc cctcattctc ccctccccct ccttttccct cagaattggg
     3481 ggatggaaga aaagagagct tatattttat tgtcaatttt ctaatcacat tcagaggagc
     3541 gaagctaatt aagccaataa caatgtttat gaatgtatct tttttaaaag ggagatgaca
     3601 atatatagga aaattcccac atgtaggcta atagcagctt tttctttttc ctcccatcct
     3661 ctatgattat gtaaacatac agaagtctaa caccctacac aagtgtattg tggggtatgg
     3721 gattaagtac caaattgctg aacatatcac tagtattttg gatttgctga gtgcagtctt
     3781 cccattaaaa ctaagtgttc agtagggagg cgtggtggct cacacctata atcccactac
     3841 tttgggaggc cgaggtgggt ggatcacttg aggtcaaaag ttcgaggcca gcctggccaa
     3901 tatggtgaaa ccccgtctct actaaaaaca aaaacaaaaa ctaagtgttc agtgagattg
     3961 tagcctatgc tacaacaata gtaatgccaa ttgttttaga gaaaagtaaa tgagaggcta
     4021 ccagttgtgt ttagaggagg tcgacgtttt attttagaca aaattcacag gaaatcacag
     4081 tgggaatgtg ataaggggtt tgaatgattg atggggacag gaagaattca tttgagagac
     4141 tagagatgag tcagtattct agatcgtgaa gtaaaatagt gagtcatgta gtgacttagc
     4201 atgggttatc cttaaatccc agtgtcttaa gtgtattttt tattcatact gcatgtctaa
     4261 ggagggttgg caaggagtgc tcatagaccc acaaggaatc caggctgagt gtggcaccat
     4321 caacatatat ttccatgacc atagtggtgg tggggaattg gaacatggta aattacacat
     4381 aggaataaaa aaaaagaaac aaccaaggtt aaattttttt ttgactgtgc cacaaaattt
     4441 atgaattgaa cttgccatgc atcactaata attttcaaat tggtctttag gtttacatta
     4501 gcagctaatt ttttgtggta cacttaaatg taatttatga ttggcatctg tatataatta
     4561 aatgaaaagc attgcaaaga tttctatttt ggtatttctc atgatcttca attttttttt
     4621 aggtgaatct attaggtttt ctaaagataa ctattttttt ttttttacaa aatattggca
     4681 ttttaatctc tctataactg gagggtgaat tatttttcac cagagtaaaa caggtccaaa
     4741 gtcccttatc taaattccta atttcaaaaa tctctgaaaa caaagttttt tcataactca
     4801 tttggcaaca aaccccacct gaattacatg aggctatttg tggtatttat cgcacttcaa
     4861 tgtgaatatg aatatatttt gccacagatg tatcaatata tttgattcta aactgcttcc
     4921 tcagaccctc ttaatgtgtt acataatgta aagtatatgc ccatatttcc tttcaaaaat
     4981 ctgaaaaatt gtgaatatca aacacatctg tcttaaaagg tttcagaaaa gggacaatag
     5041 acctatattt ccattctctt aacaagttca caaagtggta ttatgatcca aatttaatct
     5101 aaataatttc caaaacaaaa attttcaggt ccttagtttt ctaaattatt ttaatattaa
     5161 aaatattcat tattcatttt aacctgtagt aacaacagga gatactttga aatgcttgat
     5221 tttatcaagc cactaggtgg catctttgta aaaataaaag cacatcaaaa gaaatgttta
     5281 ttacataaat aaatgctgag atgaataaag gtagatgttt catgagaaat acgaagtcgt
     5341 ttggtggaat aaatcctgag aaaatgcata gatttatcat gaaaaggaaa atggaaaatg
     5401 gtattgtaaa attactcttt cacttttgga attgagaagc tttttcctat tggttgtttt
     5461 cattaagttt gaatataaat ttattatgta accaaa
//
