LOCUS       NM_014222                804 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens NADH:ubiquinone oxidoreductase subunit A8 (NDUFA8),
            transcript variant 1, mRNA.
ACCESSION   NM_014222
VERSION     NM_014222.3
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 804)
  AUTHORS   Xiang,H., Tang,H., He,Q., Sun,J., Yang,Y., Kong,L. and Wang,Y.
  TITLE     NDUFA8 is transcriptionally regulated by EP300/H3K27ac and promotes
            mitochondrial respiration to support proliferation and inhibit
            apoptosis in cervical cancer
  JOURNAL   Biochem Biophys Res Commun 693, 149374 (2024)
   PUBMED   38096616
  REMARK    GeneRIF: NDUFA8 is transcriptionally regulated by EP300/H3K27ac and
            promotes mitochondrial respiration to support proliferation and
            inhibit apoptosis in cervical cancer.
REFERENCE   2  (bases 1 to 804)
  AUTHORS   Qiu,L., Sheng,P. and Wang,X.
  TITLE     Identification of Metabolic Syndrome-Related miRNA-mRNA Regulatory
            Networks and Key Genes Based on Bioinformatics Analysis
  JOURNAL   Biochem Genet 61 (1), 428-447 (2023)
   PUBMED   35877019
  REMARK    GeneRIF: Identification of Metabolic Syndrome-Related miRNA-mRNA
            Regulatory Networks and Key Genes Based on Bioinformatics Analysis.
REFERENCE   3  (bases 1 to 804)
  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   4  (bases 1 to 804)
  AUTHORS   Tort,F., Barredo,E., Parthasarathy,R., Ugarteburu,O.,
            Ferrer-Cortes,X., Garcia-Villoria,J., Gort,L.,
            Gonzalez-Quintana,A., Martin,M.A., Fernandez-Vizarra,E., Zeviani,M.
            and Ribes,A.
  TITLE     Biallelic mutations in NDUFA8 cause complex I deficiency in two
            siblings with favorable clinical evolution
  JOURNAL   Mol Genet Metab 131 (3), 349-357 (2020)
   PUBMED   33153867
  REMARK    GeneRIF: Biallelic mutations in NDUFA8 cause complex I deficiency
            in two siblings with favorable clinical evolution.
REFERENCE   5  (bases 1 to 804)
  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   6  (bases 1 to 804)
  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   7  (bases 1 to 804)
  AUTHORS   Triepels,R., van den Heuvel,L., Loeffen,J., Smeets,R., Trijbels,F.
            and Smeitink,J.
  TITLE     The nuclear-encoded human NADH:ubiquinone oxidoreductase NDUFA8
            subunit: cDNA cloning, chromosomal localization, tissue
            distribution, and mutation detection in complex-I-deficient
            patients
  JOURNAL   Hum Genet 103 (5), 557-563 (1998)
   PUBMED   9860297
REFERENCE   8  (bases 1 to 804)
  AUTHORS   Smeitink,J., Loeffen,J., Smeets,R., Triepels,R., Ruitenbeek,W.,
            Trijbels,F. and van den Heuvel,L.
  TITLE     Molecular characterization and mutational analysis of the human B17
            subunit of the mitochondrial respiratory chain complex I
  JOURNAL   Hum Genet 103 (2), 245-250 (1998)
   PUBMED   9760212
REFERENCE   9  (bases 1 to 804)
  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 804)
  AUTHORS   Sarto,C., Marocchi,A., Sanchez,J.C., Giannone,D., Frutiger,S.,
            Golaz,O., Wilkins,M.R., Doro,G., Cappellano,F., Hughes,G.,
            Hochstrasser,D.F. and Mocarelli,P.
  TITLE     Renal cell carcinoma and normal kidney protein expression
  JOURNAL   Electrophoresis 18 (3-4), 599-604 (1997)
   PUBMED   9150947
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK314135.1 and BC001016.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_014222.2.
            
            Summary: The protein encoded by this gene belongs to the complex I
            19 kDa subunit family. Mammalian complex I is composed of 45
            different subunits. This protein has NADH dehydrogenase activity
            and oxidoreductase activity. It plays an important role in
            transfering electrons from NADH to the respiratory chain. The
            immediate electron acceptor for the enzyme is believed to be
            ubiquinone. Alternative splicing of this gene results in multiple
            transcript variants encoding different isoforms. [provided by
            RefSeq, Dec 2015].
            
            Transcript Variant: This variant (1) represents the shorter
            transcript and encodes the longer 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 :: SRR5189661.4286.1,
                                           SRR5189664.130104.1 [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                 :: ENST00000373768.4/
                                                  ENSP00000362873.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-621               AK314135.1         1-621
            622-804             BC001016.2         566-748
FEATURES             Location/Qualifiers
     source          1..804
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q33.2"
     gene            1..804
                     /gene="NDUFA8"
                     /gene_synonym="CI-19KD; CI-PGIV; MC1DN37; PGIV"
                     /note="NADH:ubiquinone oxidoreductase subunit A8"
                     /db_xref="GeneID:4702"
                     /db_xref="HGNC:HGNC:7692"
                     /db_xref="MIM:603359"
     exon            1..153
                     /gene="NDUFA8"
                     /gene_synonym="CI-19KD; CI-PGIV; MC1DN37; PGIV"
                     /inference="alignment:Splign:2.1.0"
     CDS             103..621
                     /gene="NDUFA8"
                     /gene_synonym="CI-19KD; CI-PGIV; MC1DN37; PGIV"
                     /EC_number="7.1.1.2"
                     /EC_number="1.6.99.3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     NADH-ubiquinone oxidoreductase 19 kDa subunit;
                     NADH:ubiquinone oxidoreductase PGIV subunit; NADH
                     dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8;
                     complex I-19kD; complex I-PGIV; NADH dehydrogenase
                     (ubiquinone) 1 alpha subcomplex, 8, 19kDa"
                     /codon_start=1
                     /product="NADH dehydrogenase [ubiquinone] 1 alpha
                     subcomplex subunit 8 isoform 1"
                     /protein_id="NP_055037.1"
                     /db_xref="CCDS:CCDS6835.1"
                     /db_xref="GeneID:4702"
                     /db_xref="HGNC:HGNC:7692"
                     /db_xref="MIM:603359"
                     /translation="MPGIVELPTLEELKVDEVKISSAVLKAAAHHYGAQCDKPNKEFM
                     LCRWEEKDPRRCLEEGKLVNKCALDFFRQIKRHCAEPFTEYWTCIDYTGQQLFRHCRK
                     QQAKFDECVLDKLGWVRPDLGELSKVTKVKTDRPLPENPYHSRPRPDPSPEIEGDLQP
                     ATHGSRFYFWTK"
     exon            154..317
                     /gene="NDUFA8"
                     /gene_synonym="CI-19KD; CI-PGIV; MC1DN37; PGIV"
                     /inference="alignment:Splign:2.1.0"
     exon            318..483
                     /gene="NDUFA8"
                     /gene_synonym="CI-19KD; CI-PGIV; MC1DN37; PGIV"
                     /inference="alignment:Splign:2.1.0"
     exon            484..804
                     /gene="NDUFA8"
                     /gene_synonym="CI-19KD; CI-PGIV; MC1DN37; PGIV"
                     /inference="alignment:Splign:2.1.0"
     regulatory      785..790
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFA8"
                     /gene_synonym="CI-19KD; CI-PGIV; MC1DN37; PGIV"
                     /note="hexamer: ATTAAA"
     polyA_site      804
                     /gene="NDUFA8"
                     /gene_synonym="CI-19KD; CI-PGIV; MC1DN37; PGIV"
                     /note="major polyA site"
ORIGIN      
        1 atgcgcaggc gccgtgtggc actcggcggt cgaaagggga gttcaaggag acgggggcga
       61 cgcggctgag ggcttctcgt cggggtcggg gctgcagccg tcatgccggg gatagtggag
      121 ctgcccactc tagaggagct gaaagtagat gaggtgaaaa ttagttctgc tgtgcttaaa
      181 gctgcggccc atcactatgg agctcaatgt gataagccca acaaggagtt tatgctctgc
      241 cgctgggaag agaaagatcc gaggcggtgt ttagaggaag gcaaactggt caacaagtgt
      301 gctttggact tctttaggca gataaaacgt cactgtgcag agccttttac agaatattgg
      361 acttgcattg attatactgg ccagcagtta tttcgtcact gtcgcaaaca gcaggcaaag
      421 tttgacgagt gtgtgctgga caaactgggc tgggtgcggc ctgacctggg agaactgtca
      481 aaggtcacca aagtgaaaac agatcgacct ttaccggaga atccctatca ctcaagacca
      541 agaccggatc ccagccctga gatcgaggga gatctgcagc ctgccacaca tggcagccgc
      601 ttttatttct ggaccaagta aagatgggtc cgtggcccac actcggtcat gtgctcagac
      661 aacgactgat gaaaacgccc atgcggtttg catcgactga tagtgtgttc tttccgggat
      721 cacaaacatt aacaaaaaag ttaacttatg tgacttggca gttattctat accatttcct
      781 gtccattaaa atttttaaag gaaa
//
