LOCUS       NM_002490               1072 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens NADH:ubiquinone oxidoreductase subunit A6 (NDUFA6),
            mRNA.
ACCESSION   NM_002490
VERSION     NM_002490.6
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 1072)
  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 1072)
  AUTHORS   Li,Y., Ma,C., Li,W., Yang,Y., Li,X., Liu,J., Wang,J., Li,S.,
            Liu,Y., Li,K., Li,J., Huang,D., Chen,R., Lv,L., Li,M. and Luo,X.J.
  TITLE     A missense variant in NDUFA6 confers schizophrenia risk by
            affecting YY1 binding and NAGA expression
  JOURNAL   Mol Psychiatry 26 (11), 6896-6911 (2021)
   PUBMED   33931730
  REMARK    GeneRIF: A missense variant in NDUFA6 confers schizophrenia risk by
            affecting YY1 binding and NAGA expression.
REFERENCE   3  (bases 1 to 1072)
  AUTHORS   Alston,C.L., Heidler,J., Dibley,M.G., Kremer,L.S., Taylor,L.S.,
            Fratter,C., French,C.E., Glasgow,R.I.C., Feichtinger,R.G.,
            Delon,I., Pagnamenta,A.T., Dolling,H., Lemonde,H., Aiton,N.,
            Bjornstad,A., Henneke,L., Gartner,J., Thiele,H., Tauchmannova,K.,
            Quaghebeur,G., Houstek,J., Sperl,W., Raymond,F.L., Prokisch,H.,
            Mayr,J.A., McFarland,R., Poulton,J., Ryan,M.T., Wittig,I.,
            Henneke,M. and Taylor,R.W.
  TITLE     Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset
            Isolated Mitochondrial Complex I Deficiency
  JOURNAL   Am J Hum Genet 103 (4), 592-601 (2018)
   PUBMED   30245030
REFERENCE   4  (bases 1 to 1072)
  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   5  (bases 1 to 1072)
  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 1072)
  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 1072)
  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 1072)
  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 1072)
  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 1072)
  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     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CR456529.1 and BC002772.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_002490.5.
            
            Summary: This gene encodes a member of the LYR family of proteins
            that contain a highly conserved tripeptide (LYR) motif near the
            N-terminus. The encoded protein is an accessory subunit of NADH:
            ubiquinone oxidorerductase (Complex I), which is the largest enzyme
            of the mitochondrial membrane respiratory chain. Complex I
            functions in electron transfer from NADH to the respiratory chain.
            [provided by RefSeq, Oct 2016].
            
            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 :: SRR5189655.152785.1,
                                           SRR1803612.502241.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000498737.8/
                                                  ENSP00000418842.3
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-556               CR456529.1         113-668
            557-1072            BC002772.1         530-1045
FEATURES             Location/Qualifiers
     source          1..1072
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.2"
     gene            1..1072
                     /gene="NDUFA6"
                     /gene_synonym="B14; CI-B14; LYRM6; MC1DN33; NADHB14"
                     /note="NADH:ubiquinone oxidoreductase subunit A6"
                     /db_xref="GeneID:4700"
                     /db_xref="HGNC:HGNC:7690"
                     /db_xref="MIM:602138"
     exon            1..167
                     /gene="NDUFA6"
                     /gene_synonym="B14; CI-B14; LYRM6; MC1DN33; NADHB14"
                     /inference="alignment:Splign:2.1.0"
     CDS             29..415
                     /gene="NDUFA6"
                     /gene_synonym="B14; CI-B14; LYRM6; MC1DN33; NADHB14"
                     /note="NADH-ubiquinone oxidoreductase B14 subunit; Complex
                     I-B14; NADH-ubiquinone oxidoreductase 1 alpha subcomplex,
                     6; LYR motif-containing protein 6"
                     /codon_start=1
                     /product="NADH dehydrogenase [ubiquinone] 1 alpha
                     subcomplex subunit 6"
                     /protein_id="NP_002481.3"
                     /db_xref="CCDS:CCDS33656.2"
                     /db_xref="GeneID:4700"
                     /db_xref="HGNC:HGNC:7690"
                     /db_xref="MIM:602138"
                     /translation="MAGSGVRQATSTASTFVKPIFSRDMNEAKRRVRELYRAWYREVP
                     NTVHQFQLDITVKMGRDKVREMFMKNAHVTDPRVVDLLVIKGKIELEETIKVWKQRTH
                     VMRFFHETEAPRPKDFLSKFYVGHDP"
     exon            168..283
                     /gene="NDUFA6"
                     /gene_synonym="B14; CI-B14; LYRM6; MC1DN33; NADHB14"
                     /inference="alignment:Splign:2.1.0"
     exon            284..1072
                     /gene="NDUFA6"
                     /gene_synonym="B14; CI-B14; LYRM6; MC1DN33; NADHB14"
                     /inference="alignment:Splign:2.1.0"
     regulatory      461..466
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFA6"
                     /gene_synonym="B14; CI-B14; LYRM6; MC1DN33; NADHB14"
                     /note="hexamer: AATAAA"
     polyA_site      484
                     /gene="NDUFA6"
                     /gene_synonym="B14; CI-B14; LYRM6; MC1DN33; NADHB14"
                     /note="major polyA site"
     polyA_site      514
                     /gene="NDUFA6"
                     /gene_synonym="B14; CI-B14; LYRM6; MC1DN33; NADHB14"
     regulatory      1043..1048
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFA6"
                     /gene_synonym="B14; CI-B14; LYRM6; MC1DN33; NADHB14"
                     /note="hexamer: AATAAA"
     polyA_site      1072
                     /gene="NDUFA6"
                     /gene_synonym="B14; CI-B14; LYRM6; MC1DN33; NADHB14"
ORIGIN      
        1 ggggttgtgg agtggatgct ttggcaagat ggcggggagc ggcgtccgcc aagctacttc
       61 taccgccagc accttcgtga agcccatttt cagtcgggac atgaacgagg ccaagcggag
      121 ggtgcgcgag ctctaccgcg cctggtatcg ggaggtgccg aacactgtgc accaattcca
      181 gctggacatc actgtgaaaa tgggacggga taaagtccga gaaatgttta tgaagaatgc
      241 ccatgtcaca gaccccaggg tggttgatct tctggtcatt aagggaaaga tcgaactgga
      301 agaaacaatt aaagtatgga agcagcggac acatgttatg cggttcttcc atgaaacaga
      361 agcgccaagg ccaaaggatt tcctatccaa gttctatgtt ggccacgatc catgaagtca
      421 ttcagtggaa agatgcacgt tgatactatt ttagagcaca aataaactca ctatacaatg
      481 gtcactttgt gatagaattc cattgatgaa ccaattttct gcagcctctt tttgcctgag
      541 caagtgggac cttggtatac acatcacctg ttctttccct tttcttgaaa tgtggtgttt
      601 gctgtaaatt ggattgaatt atttttctca gagccttgca tgtcagtaaa caggaaggaa
      661 ggaggccatc tgttcaaaaa ttgtgacatt gggcatgagg ctggacgact tgttaatgta
      721 gttgtttcta tagcccctat gattagacac ttcagtgtca gggcacagat tatctaaaat
      781 tagccagctc ttcctgtcag ggatcagggc agcactaaca ggcgcaaaag tagagctgtc
      841 aagatgggct agttttcctt gggttctgaa gaaaatggat gtgcaaaggc ttggctccgc
      901 tacttgtaac aagctccagc ccttaaaatg aaattaactt cctactcagg caccctgctt
      961 aggtgcacag ctgttcaata tacacagaga acagaaatat tcctactgtc tttggaaacc
     1021 ctggtgtacc tctcagtggc agaataaaca tcaacacagg ttcaagaact ga
//
