LOCUS       NM_175614                575 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens NADH:ubiquinone oxidoreductase subunit A11 (NDUFA11),
            transcript variant 1, mRNA.
ACCESSION   NM_175614
VERSION     NM_175614.5
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 575)
  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 575)
  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   3  (bases 1 to 575)
  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   4  (bases 1 to 575)
  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   5  (bases 1 to 575)
  AUTHORS   Stroud,D.A., Surgenor,E.E., Formosa,L.E., Reljic,B., Frazier,A.E.,
            Dibley,M.G., Osellame,L.D., Stait,T., Beilharz,T.H., Thorburn,D.R.,
            Salim,A. and Ryan,M.T.
  TITLE     Accessory subunits are integral for assembly and function of human
            mitochondrial complex I
  JOURNAL   Nature 538 (7623), 123-126 (2016)
   PUBMED   27626371
REFERENCE   6  (bases 1 to 575)
  AUTHORS   Berger,I., Hershkovitz,E., Shaag,A., Edvardson,S., Saada,A. and
            Elpeleg,O.
  TITLE     Mitochondrial complex I deficiency caused by a deleterious NDUFA11
            mutation
  JOURNAL   Ann Neurol 63 (3), 405-408 (2008)
   PUBMED   18306244
  REMARK    GeneRIF: study identified a splice-site mutation in the NDUFA11
            gene in six mitochondrial complex I deficiency patients from three
            unrelated families
REFERENCE   7  (bases 1 to 575)
  AUTHORS   Takagaki,K., Katsuma,S., Horio,T., Kaminishi,Y., Hada,Y.,
            Tanaka,T., Ohgi,T. and Yano,J.
  TITLE     cDNA microarray analysis of altered gene expression in
            Ara-C-treated leukemia cells
  JOURNAL   Biochem Biophys Res Commun 309 (2), 351-358 (2003)
   PUBMED   12951057
REFERENCE   8  (bases 1 to 575)
  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   9  (bases 1 to 575)
  AUTHORS   Carroll,J., Shannon,R.J., Fearnley,I.M., Walker,J.E. and Hirst,J.
  TITLE     Definition of the nuclear encoded protein composition of bovine
            heart mitochondrial complex I. Identification of two new subunits
  JOURNAL   J Biol Chem 277 (52), 50311-50317 (2002)
   PUBMED   12381726
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104532.2, BC069045.1 and
            AI272174.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 3, 2019 this sequence version replaced NM_175614.4.
            
            Summary: This gene encodes a subunit of the membrane-bound
            mitochondrial complex I. Complex I is composed of numerous subunits
            and functions as the NADH-ubiquinol reductase of the mitochondrial
            electron transport chain. Mutations in this gene are associated
            with severe mitochondrial complex I deficiency. Alternate splicing
            results in multiple transcript variants.[provided by RefSeq, Oct
            2010].
            
            Transcript Variant: This variant (1) is a dominant transcript and
            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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BQ878104.1, BQ671956.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000308961.5/
                                                  ENSP00000311740.4
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-22                AC104532.2         4602-4623           c
            23-573              BC069045.1         1-551
            574-575             AI272174.1         13-14               c
FEATURES             Location/Qualifiers
     source          1..575
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..575
                     /gene="NDUFA11"
                     /gene_synonym="B14.7; CI-B14.7; MC1DN14"
                     /note="NADH:ubiquinone oxidoreductase subunit A11"
                     /db_xref="GeneID:126328"
                     /db_xref="HGNC:HGNC:20371"
                     /db_xref="MIM:612638"
     exon            1..179
                     /gene="NDUFA11"
                     /gene_synonym="B14.7; CI-B14.7; MC1DN14"
                     /inference="alignment:Splign:2.1.0"
     CDS             83..508
                     /gene="NDUFA11"
                     /gene_synonym="B14.7; CI-B14.7; MC1DN14"
                     /EC_number="7.1.1.2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     complex I B14.7 subunit; NADH-ubiquinone oxidoreductase
                     subunit B14.7; NADH dehydrogenase (ubiquinone) 1 alpha
                     subcomplex, 11, 14.7kDa"
                     /codon_start=1
                     /product="NADH dehydrogenase [ubiquinone] 1 alpha
                     subcomplex subunit 11 isoform 1"
                     /protein_id="NP_783313.1"
                     /db_xref="CCDS:CCDS12155.1"
                     /db_xref="GeneID:126328"
                     /db_xref="HGNC:HGNC:20371"
                     /db_xref="MIM:612638"
                     /translation="MAPKVFRQYWDIPDGTDCHRKAYSTTSIASVAGLTAAAYRVTLN
                     PPGTFLEGVAKVGQYTFTAAAVGAVFGLTTCISAHVREKPDDPLNYFLGGCAGGLTLG
                     ARTHNYGIGAAACVYFGIAASLVKMGRLEGWEVFAKPKV"
     exon            180..272
                     /gene="NDUFA11"
                     /gene_synonym="B14.7; CI-B14.7; MC1DN14"
                     /inference="alignment:Splign:2.1.0"
     exon            273..395
                     /gene="NDUFA11"
                     /gene_synonym="B14.7; CI-B14.7; MC1DN14"
                     /inference="alignment:Splign:2.1.0"
     exon            396..575
                     /gene="NDUFA11"
                     /gene_synonym="B14.7; CI-B14.7; MC1DN14"
                     /inference="alignment:Splign:2.1.0"
     regulatory      553..558
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFA11"
                     /gene_synonym="B14.7; CI-B14.7; MC1DN14"
                     /note="hexamer: AATAAA"
     polyA_site      575
                     /gene="NDUFA11"
                     /gene_synonym="B14.7; CI-B14.7; MC1DN14"
                     /note="major polyA site"
ORIGIN      
        1 aagtctcgcg atagccagcc gcggctgccc ttgcgcttcc cgagctggcg gggtccgtgg
       61 tgcgggatcg agattgcggg ctatggcgcc gaaggttttt cgtcagtact gggatatccc
      121 cgatggcacc gattgccacc gcaaagccta cagcaccacc agtattgcca gcgtcgctgg
      181 cctgaccgcc gctgcctaca gagtcacact caatcctccg ggcaccttcc ttgaaggagt
      241 ggctaaggtt ggacaataca cgttcactgc agctgctgtc ggggccgtgt ttggcctcac
      301 cacctgcatc agcgcccatg tccgcgagaa gcccgacgac cccctgaact acttcctcgg
      361 tggctgcgcc ggaggcctga ctctgggagc acgcacgcac aactacggga ttggcgccgc
      421 cgcctgcgtg tactttggca tagcggcctc cctggtcaag atgggccggc tggagggctg
      481 ggaggtgttt gcaaaaccca aggtgtgagc cctgtgcctg ccgggacctc cagcctgcag
      541 aatgcgtcca gaaataaatt ctgtgtctgt gtgtg
//
