LOCUS       NM_005004                678 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens NADH:ubiquinone oxidoreductase subunit B8 (NDUFB8),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_005004
VERSION     NM_005004.4
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 678)
  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 678)
  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 678)
  AUTHORS   Piekutowska-Abramczuk,D., Assouline,Z., Matakovic,L.,
            Feichtinger,R.G., Konarikova,E., Jurkiewicz,E., Stawinski,P.,
            Gusic,M., Koller,A., Pollak,A., Gasperowicz,P., Trubicka,J.,
            Ciara,E., Iwanicka-Pronicka,K., Rokicki,D., Hanein,S.,
            Wortmann,S.B., Sperl,W., Rotig,A., Prokisch,H., Pronicka,E.,
            Ploski,R., Barcia,G. and Mayr,J.A.
  TITLE     NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in
            Individuals with Leigh-like Encephalomyopathy
  JOURNAL   Am J Hum Genet 102 (3), 460-467 (2018)
   PUBMED   29429571
  REMARK    GeneRIF: NDUFB8 is a relevant gene in childhood-onset mitochondrial
            disease.
REFERENCE   4  (bases 1 to 678)
  AUTHORS   Ahmed,S.T., Alston,C.L., Hopton,S., He,L., Hargreaves,I.P.,
            Falkous,G., Olahova,M., McFarland,R., Turnbull,D.M., Rocha,M.C. and
            Taylor,R.W.
  TITLE     Using a quantitative quadruple immunofluorescent assay to diagnose
            isolated mitochondrial Complex I deficiency
  JOURNAL   Sci Rep 7 (1), 15676 (2017)
   PUBMED   29142257
  REMARK    GeneRIF: We observed loss of NDUFB8 immunoreactivity in all
            patients with mutations affecting nuclear-encoding structural
            subunits and assembly factors, whilst only 3 of the 10 patients
            with mutations affecting mtDNA-encoded structural subunits showed
            loss of NDUFB8, confirmed by BN-PAGE analysis of CI assembly and
            IHC using an alternative, commercially-available CI (NDUFS3)
            antibody.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 678)
  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   6  (bases 1 to 678)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   7  (bases 1 to 678)
  AUTHORS   Emahazion,T., Jobs,M., Howell,W.M., Siegfried,M., Wyoni,P.I.,
            Prince,J.A. and Brookes,A.J.
  TITLE     Identification of 167 polymorphisms in 88 genes from candidate
            neurodegeneration pathways
  JOURNAL   Gene 238 (2), 315-324 (1999)
   PUBMED   10570959
REFERENCE   8  (bases 1 to 678)
  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 678)
  AUTHORS   Emahazion,T. and Brookes,A.J.
  TITLE     Mapping of the NDUFA2, NDUFA6, NDUFA7, NDUFB8, and NDUFS8 electron
            transport chain genes by intron based radiation hybrid mapping
  JOURNAL   Cytogenet Cell Genet 82 (1-2), 114 (1998)
   PUBMED   9763676
REFERENCE   10 (bases 1 to 678)
  AUTHORS   Dunbar,D.R., Shibasaki,Y., Dobbie,L., Andersson,B. and Brookes,A.J.
  TITLE     In situ hybridisation mapping of genomic clones for five human
            respiratory chain complex I genes
  JOURNAL   Cytogenet Cell Genet 78 (1), 21-24 (1997)
   PUBMED   9345899
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA428446.1 and BC000466.2.
            
            On Nov 22, 2018 this sequence version replaced NM_005004.3.
            
            Transcript Variant: This variant (1) 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 :: SRR1163658.67268.1, BU601073.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2162946 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000299166.9/
                                                  ENSP00000299166.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-7                 DA428446.1         53-59
            8-678               BC000466.2         1-671
FEATURES             Location/Qualifiers
     source          1..678
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.31"
     gene            1..678
                     /gene="NDUFB8"
                     /gene_synonym="ASHI; CI-ASHI; MC1DN32"
                     /note="NADH:ubiquinone oxidoreductase subunit B8"
                     /db_xref="GeneID:4714"
                     /db_xref="HGNC:HGNC:7703"
                     /db_xref="MIM:602140"
     exon            1..105
                     /gene="NDUFB8"
                     /gene_synonym="ASHI; CI-ASHI; MC1DN32"
                     /inference="alignment:Splign:2.1.0"
     CDS             21..581
                     /gene="NDUFB8"
                     /gene_synonym="ASHI; CI-ASHI; MC1DN32"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; complex I ASHI subunit; NADH dehydrogenase
                     [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial;
                     NADH:ubiquinone oxidoreductase ASHI subunit; complex
                     I-ASHI; NADH dehydrogenase (ubiquinone) 1 beta subcomplex,
                     8, 19kDa"
                     /codon_start=1
                     /product="NADH dehydrogenase [ubiquinone] 1 beta
                     subcomplex subunit 8, mitochondrial isoform 1 precursor"
                     /protein_id="NP_004995.1"
                     /db_xref="CCDS:CCDS7497.1"
                     /db_xref="GeneID:4714"
                     /db_xref="HGNC:HGNC:7703"
                     /db_xref="MIM:602140"
                     /translation="MAVARAGVLGVQWLQRASRNVMPLGARTASHMTKDMFPGPYPRT
                     PEERAAAAKKYNMRVEDYEPYPDDGMGYGDYPKLPDRSQHERDPWYSWDQPGLRLNWG
                     EPMHWHLDMYNRNRVDTSPTPVSWHVMCMQLFGFLAFMIFMCWVGDVYPVYQPVGPKQ
                     YPYNNLYLERGGDPSKEPERVVHYEI"
     exon            106..232
                     /gene="NDUFB8"
                     /gene_synonym="ASHI; CI-ASHI; MC1DN32"
                     /inference="alignment:Splign:2.1.0"
     exon            233..332
                     /gene="NDUFB8"
                     /gene_synonym="ASHI; CI-ASHI; MC1DN32"
                     /inference="alignment:Splign:2.1.0"
     exon            333..488
                     /gene="NDUFB8"
                     /gene_synonym="ASHI; CI-ASHI; MC1DN32"
                     /inference="alignment:Splign:2.1.0"
     exon            489..678
                     /gene="NDUFB8"
                     /gene_synonym="ASHI; CI-ASHI; MC1DN32"
                     /inference="alignment:Splign:2.1.0"
     regulatory      657..662
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFB8"
                     /gene_synonym="ASHI; CI-ASHI; MC1DN32"
                     /note="hexamer: AATAAA"
     polyA_site      678
                     /gene="NDUFB8"
                     /gene_synonym="ASHI; CI-ASHI; MC1DN32"
                     /note="major polyA site"
ORIGIN      
        1 gaaacgtgaa gaaggtgaag atggcggtgg ccagggccgg ggtcttggga gtccagtggc
       61 tgcaaagggc atcccggaac gtgatgccgc tgggcgcacg gacagcctcc cacatgacca
      121 aggacatgtt cccggggccc tatcctagga ccccagaaga acgggccgcc gccgccaaga
      181 agtataatat gcgtgtggaa gactacgaac cttacccgga tgatggcatg gggtatggcg
      241 actacccgaa gctccctgac cgctcacagc atgagagaga tccatggtat agctgggacc
      301 agccgggcct gaggttgaac tggggtgaac cgatgcactg gcacctagac atgtacaaca
      361 ggaaccgtgt ggatacatcc cccacacctg tttcttggca tgtcatgtgt atgcagctct
      421 tcggtttcct ggctttcatg atattcatgt gctgggtggg ggacgtgtac cctgtctacc
      481 agcctgtggg accaaagcag tatccttaca ataatctgta cctggaacga ggcggtgatc
      541 cctccaaaga accagagcgg gtggttcact atgagatctg aggaggcttc gtgggctttt
      601 gggtcctcta actaggactc cctcattcct agaaatttaa ccttaatgaa atccctaata
      661 aaactcagtg ctgtgtta
//
