LOCUS       NM_002488                649 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens NADH:ubiquinone oxidoreductase subunit A2 (NDUFA2),
            transcript variant 1, mRNA.
ACCESSION   NM_002488
VERSION     NM_002488.5
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 649)
  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 649)
  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 649)
  AUTHORS   Perrier,S., Gauquelin,L., Tetreault,M., Tran,L.T., Webb,N.,
            Srour,M., Mitchell,J.J., Brunel-Guitton,C., Majewski,J., Long,V.,
            Keller,S., Gambello,M.J., Simons,C., Vanderver,A. and Bernard,G.
  CONSRTM   Care4Rare Canada Consortium
  TITLE     Recessive mutations in NDUFA2 cause mitochondrial
            leukoencephalopathy
  JOURNAL   Clin Genet 93 (2), 396-400 (2018)
   PUBMED   28857146
  REMARK    GeneRIF: Review of a biorepository of patients with unsolved
            genetic leukoencephalopathies who underwent whole-exome or genome
            sequencing allowed us to identify a second patient with compound
            heterozygous mutations in NDUFA2. Only 1 other patient with
            mutations in NDUFA2 and a different phenotype (Leigh syndrome) has
            previously been reported. This is the first report of cystic
            leukoencephalopathy caused by mutations in NDUFA2.
REFERENCE   4  (bases 1 to 649)
  AUTHORS   Hoefs,S.J., Dieteren,C.E., Distelmaier,F., Janssen,R.J., Epplen,A.,
            Swarts,H.G., Forkink,M., Rodenburg,R.J., Nijtmans,L.G.,
            Willems,P.H., Smeitink,J.A. and van den Heuvel,L.P.
  TITLE     NDUFA2 complex I mutation leads to Leigh disease
  JOURNAL   Am J Hum Genet 82 (6), 1306-1315 (2008)
   PUBMED   18513682
REFERENCE   5  (bases 1 to 649)
  AUTHORS   Brockmann,C., Diehl,A., Rehbein,K., Strauss,H., Schmieder,P.,
            Korn,B., Kuhne,R. and Oschkinat,H.
  TITLE     The oxidized subunit B8 from human complex I adopts a thioredoxin
            fold
  JOURNAL   Structure 12 (9), 1645-1654 (2004)
   PUBMED   15341729
  REMARK    GeneRIF: solution structure shows a thioredoxin fold with highest
            similarities to the human thioredoxin mutant C73S and thioredoxin 2
            from Anabeana sp
REFERENCE   6  (bases 1 to 649)
  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   7  (bases 1 to 649)
  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 649)
  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   9  (bases 1 to 649)
  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
REFERENCE   10 (bases 1 to 649)
  AUTHORS   Rahman,S. and Thorburn,D.
  TITLE     Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   26425749
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC003674.1, AA993683.1 and
            AC116353.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 30, 2019 this sequence version replaced NM_002488.4.
            
            Summary: The encoded protein is a subunit of the hydrophobic
            protein fraction of the NADH:ubiquinone oxidoreductase (complex 1),
            the first enzyme complex in the electron transport chain located in
            the inner mitochondrial membrane, and may be involved in regulating
            complex I activity or its assembly via assistance in redox
            processes. Mutations in this gene are associated with Leigh
            syndrome, an early-onset progressive neurodegenerative disorder.
            Alternative splicing results in multiple transcript
            variants.[provided by RefSeq, May 2010].
            
            Transcript Variant: This variant (1) represents the shortest
            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 :: BC003674.1, BJ995924.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMEA2142680
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000252102.9/
                                                  ENSP00000252102.5
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-460               BC003674.1         1-460
            461-571             AA993683.1         340-450
            572-649             AC116353.2         100996-101073       c
FEATURES             Location/Qualifiers
     source          1..649
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.3"
     gene            1..649
                     /gene="NDUFA2"
                     /gene_synonym="B8; CD14; CIB8; MC1DN13"
                     /note="NADH:ubiquinone oxidoreductase subunit A2"
                     /db_xref="GeneID:4695"
                     /db_xref="HGNC:HGNC:7685"
                     /db_xref="MIM:602137"
     exon            1..148
                     /gene="NDUFA2"
                     /gene_synonym="B8; CD14; CIB8; MC1DN13"
                     /inference="alignment:Splign:2.1.0"
     CDS             48..347
                     /gene="NDUFA2"
                     /gene_synonym="B8; CD14; CIB8; MC1DN13"
                     /EC_number="7.1.1.2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     NADH-ubiquinone oxidoreductase subunit CI-B8; complex I B8
                     subunit; NADH dehydrogenase (ubiquinone) 1 alpha
                     subcomplex, 2, 8kDa"
                     /codon_start=1
                     /product="NADH dehydrogenase [ubiquinone] 1 alpha
                     subcomplex subunit 2 isoform 1"
                     /protein_id="NP_002479.1"
                     /db_xref="CCDS:CCDS4234.1"
                     /db_xref="GeneID:4695"
                     /db_xref="HGNC:HGNC:7685"
                     /db_xref="MIM:602137"
                     /translation="MAAAAASRGVGAKLGLREIRIHLCQRSPGSQGVRDFIEKRYVEL
                     KKANPDLPILIRECSDVQPKLWARYAFGQETNVPLNNFSADQVTRALENVLSGKA"
     exon            149..255
                     /gene="NDUFA2"
                     /gene_synonym="B8; CD14; CIB8; MC1DN13"
                     /inference="alignment:Splign:2.1.0"
     exon            256..649
                     /gene="NDUFA2"
                     /gene_synonym="B8; CD14; CIB8; MC1DN13"
                     /inference="alignment:Splign:2.1.0"
     regulatory      438..443
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFA2"
                     /gene_synonym="B8; CD14; CIB8; MC1DN13"
                     /note="hexamer: CATAAA"
     polyA_site      460
                     /gene="NDUFA2"
                     /gene_synonym="B8; CD14; CIB8; MC1DN13"
                     /note="major polyA site"
     regulatory      540..545
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFA2"
                     /gene_synonym="B8; CD14; CIB8; MC1DN13"
                     /note="hexamer: AATAAA"
     polyA_site      567
                     /gene="NDUFA2"
                     /gene_synonym="B8; CD14; CIB8; MC1DN13"
ORIGIN      
        1 gcacttggcc tgaagacctg gaattggcga cttcgatatt aacaaggatg gcggcggccg
       61 cagcaagtcg aggagtcggg gcaaagctgg gcctgcgtga gattcgcatc cacttatgtc
      121 agcgctcgcc cggcagccag ggcgtcaggg acttcattga gaaacgctac gtggagctga
      181 agaaggcgaa tcccgaccta cccatcctaa tccgcgaatg ctccgatgtg cagcccaagc
      241 tctgggcccg ctacgcattt ggccaagaga cgaatgtccc tttgaacaac ttcagtgctg
      301 atcaggtaac cagagccctg gagaacgttc taagtggtaa agcctgaagc ctccactgag
      361 gattaagagc aacagcccca gagcctgggc tctgctggac ttagtataat gtgaaaaaaa
      421 tgtgttctcc tattcctcat aaagcttgtg ctgtaaaata ctttctcagg gtgttcttgt
      481 cctcatctac cctctacccc ttactgtgca accactgagg caaagtagct taatataaaa
      541 ataaaacttt attctgtctc atcaaaagct accagctgct gaagcaaaca tgaagggtgg
      601 cgggggggca gggattctag ggccccagag taagtagacc acactgagt
//
