LOCUS       NM_018838                562 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens NADH:ubiquinone oxidoreductase subunit A12 (NDUFA12),
            transcript variant 1, mRNA.
ACCESSION   NM_018838
VERSION     NM_018838.5
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 562)
  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 562)
  AUTHORS   Torraco,A., Nasca,A., Verrigni,D., Pennisi,A., Zaki,M.S.,
            Olivieri,G., Assouline,Z., Martinelli,D., Maroofian,R., Rizza,T.,
            Di Nottia,M., Invernizzi,F., Lamantea,E., Longo,D., Houlden,H.,
            Prokisch,H., Rotig,A., Dionisi-Vici,C., Bertini,E., Ghezzi,D.,
            Carrozzo,R. and Diodato,D.
  TITLE     Novel NDUFA12 variants are associated with isolated complex I
            defect and variable clinical manifestation
  JOURNAL   Hum Mutat 42 (6), 699-710 (2021)
   PUBMED   33715266
  REMARK    GeneRIF: Novel NDUFA12 variants are associated with isolated
            complex I defect and variable clinical manifestation.
REFERENCE   3  (bases 1 to 562)
  AUTHORS   Adjobo-Hermans,M.J.W., de Haas,R., Willems,P.H.G.M., Wojtala,A.,
            van Emst-de Vries,S.E., Wagenaars,J.A., van den Brand,M.,
            Rodenburg,R.J., Smeitink,J.A.M., Nijtmans,L.G., Sazanov,L.A.,
            Wieckowski,M.R. and Koopman,W.J.H.
  TITLE     NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4-/- mice and
            Leigh syndrome patients: A stabilizing role for NDUFAF2
  JOURNAL   Biochim Biophys Acta Bioenerg 1861 (8), 148213 (2020)
   PUBMED   32335026
  REMARK    GeneRIF: NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4(-/-)
            mice and Leigh syndrome patients: A stabilizing role for NDUFAF2.
REFERENCE   4  (bases 1 to 562)
  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   5  (bases 1 to 562)
  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   6  (bases 1 to 562)
  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 562)
  AUTHORS   Hu,R.M., Han,Z.G., Song,H.D., Peng,Y.D., Huang,Q.H., Ren,S.X.,
            Gu,Y.J., Huang,C.H., Li,Y.B., Jiang,C.L., Fu,G., Zhang,Q.H.,
            Gu,B.W., Dai,M., Mao,Y.F., Gao,G.F., Rong,R., Ye,M., Zhou,J.,
            Xu,S.H., Gu,J., Shi,J.X., Jin,W.R., Zhang,C.K., Wu,T.M.,
            Huang,G.Y., Chen,Z., Chen,M.D. and Chen,J.L.
  TITLE     Gene expression profiling in the human
            hypothalamus-pituitary-adrenal axis and full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 97 (17), 9543-9548 (2000)
   PUBMED   10931946
REFERENCE   8  (bases 1 to 562)
  AUTHORS   Triepels,R., Smeitink,J., Loeffen,J., Smeets,R., Trijbels,F. and
            van den Heuvel,L.
  TITLE     Characterization of the human complex I NDUFB7 and 17.2-kDa cDNAs
            and mutational analysis of 19 genes of the HP fraction in complex
            I-deficient-patients
  JOURNAL   Hum Genet 106 (4), 385-391 (2000)
   PUBMED   10830904
REFERENCE   9  (bases 1 to 562)
  AUTHORS   Gubin,A.N., Njoroge,J.M., Bouffard,G.G. and Miller,J.L.
  TITLE     Gene expression in proliferating human erythroid cells
  JOURNAL   Genomics 59 (2), 168-177 (1999)
   PUBMED   10409428
REFERENCE   10 (bases 1 to 562)
  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 BC005936.1, AC011598.33 and
            BG943528.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_018838.4.
            
            Summary: This gene encodes a protein which is part of mitochondrial
            complex 1, part of the oxidative phosphorylation system in
            mitochondria. Complex 1 transfers electrons to ubiquinone from NADH
            which establishes a proton gradient for the generation of ATP.
            Mutations in this gene are associated with Leigh syndrome due to
            mitochondrial complex 1 deficiency. Pseudogenes of this gene are
            located on chromosomes 5 and 13. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Apr 2012].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer protein (isoform a).
            
            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 :: CB109230.1, CB109322.1 [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                 :: ENST00000327772.7/
                                                  ENSP00000330737.2
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-326               BC005936.1         6-331
            327-327             AC011598.33        128364-128364
            328-558             BC005936.1         333-563
            559-562             BG943528.1         560-563
FEATURES             Location/Qualifiers
     source          1..562
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q22"
     gene            1..562
                     /gene="NDUFA12"
                     /gene_synonym="B17.2; DAP13; MC1DN23"
                     /note="NADH:ubiquinone oxidoreductase subunit A12"
                     /db_xref="GeneID:55967"
                     /db_xref="HGNC:HGNC:23987"
                     /db_xref="MIM:614530"
     exon            1..103
                     /gene="NDUFA12"
                     /gene_synonym="B17.2; DAP13; MC1DN23"
                     /inference="alignment:Splign:2.1.0"
     CDS             18..455
                     /gene="NDUFA12"
                     /gene_synonym="B17.2; DAP13; MC1DN23"
                     /note="isoform a is encoded by transcript variant 1;
                     complex I B17.2 subunit; NADH dehydrogenase [ubiquinone] 1
                     alpha subcomplex subunit 12; CI-B17.2; 13 kDa
                     differentiation-associated protein; NADH-ubiquinone
                     oxidoreductase subunit B17.2; NADH dehydrogenase
                     (ubiquinone) 1 alpha subcomplex, 12"
                     /codon_start=1
                     /product="NADH dehydrogenase [ubiquinone] 1 alpha
                     subcomplex subunit 12 isoform a"
                     /protein_id="NP_061326.1"
                     /db_xref="CCDS:CCDS9050.1"
                     /db_xref="GeneID:55967"
                     /db_xref="HGNC:HGNC:23987"
                     /db_xref="MIM:614530"
                     /translation="MELVQVLKRGLQQITGHGGLRGYLRVFFRTNDAKVGTLVGEDKY
                     GNKYYEDNKQFFGRHRWVVYTTEMNGKNTFWDVDGSMVPPEWHRWLHSMTDDPPTTKP
                     LTARKFIWTNHKFNVTGTPEQYVPYSTTRKKIQEWIPPSTPYK"
     exon            104..186
                     /gene="NDUFA12"
                     /gene_synonym="B17.2; DAP13; MC1DN23"
                     /inference="alignment:Splign:2.1.0"
     exon            187..274
                     /gene="NDUFA12"
                     /gene_synonym="B17.2; DAP13; MC1DN23"
                     /inference="alignment:Splign:2.1.0"
     exon            275..562
                     /gene="NDUFA12"
                     /gene_synonym="B17.2; DAP13; MC1DN23"
                     /inference="alignment:Splign:2.1.0"
     regulatory      543..548
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFA12"
                     /gene_synonym="B17.2; DAP13; MC1DN23"
                     /note="hexamer: ATTAAA"
     polyA_site      562
                     /gene="NDUFA12"
                     /gene_synonym="B17.2; DAP13; MC1DN23"
                     /note="major polyA site"
ORIGIN      
        1 ggggccagcg aggcaagatg gagttagtgc aggtcctgaa acgcgggctg cagcagatca
       61 ccggccacgg cggtctccga ggctatctac gggttttttt caggacaaat gatgcgaagg
      121 ttggtacatt agtgggggaa gacaaatatg gaaacaaata ctatgaagac aacaagcaat
      181 tttttggccg tcaccgatgg gttgtatata ctactgaaat gaatggcaaa aacacattct
      241 gggatgtgga tggaagcatg gtgcctcctg aatggcatcg ttggcttcac agtatgactg
      301 atgatcctcc aacaacaaaa ccacttactg ctcgtaaatt catttggacg aaccataaat
      361 tcaacgtgac tggcacccca gaacaatatg taccttattc taccactaga aagaagattc
      421 aggagtggat cccaccttca acaccttaca agtaaagaca atgaagaaca gttgaaacat
      481 gcaaaatatg gagcttttca tgtaattact cttttactgt ttaccattca ctataattca
      541 caattaaaat tgtgtgacta aa
//
