LOCUS       NM_004553                518 bp    mRNA    linear   PRI 26-FEB-2025
DEFINITION  Homo sapiens NADH:ubiquinone oxidoreductase subunit S6 (NDUFS6),
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_004553
VERSION     NM_004553.6
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 518)
  AUTHORS   Armirola-Ricaurte,C., Zonnekein,N., Koutsis,G., Amor-Barris,S.,
            Pelayo-Negro,A.L., Atkinson,D., Efthymiou,S., Turchetti,V.,
            Dinopoulos,A., Garcia,A., Karakaya,M., Moris,G., Polat,A.I.,
            Yis,U., Espinos,C., Van de Vondel,L., De Vriendt,E., Karadima,G.,
            Wirth,B., Hanna,M., Houlden,H., Berciano,J. and Jordanova,A.
  TITLE     Alternative splicing expands the clinical spectrum of
            NDUFS6-related mitochondrial disorders
  JOURNAL   Genet Med 26 (6), 101117 (2024)
   PUBMED   38459834
  REMARK    GeneRIF: Alternative splicing expands the clinical spectrum of
            NDUFS6-related mitochondrial disorders.
REFERENCE   2  (bases 1 to 518)
  AUTHORS   Jia,Y., Yu,X., Liu,R., Shi,L., Jin,H., Yang,D., Zhang,X., Shen,Y.,
            Feng,Y., Zhang,P., Yang,Y., Zhang,L., Zhang,P., Li,Z., He,A. and
            Kong,G.
  TITLE     PRMT1 methylation of WTAP promotes multiple myeloma tumorigenesis
            by activating oxidative phosphorylation via m6A modification of
            NDUFS6
  JOURNAL   Cell Death Dis 14 (8), 512 (2023)
   PUBMED   37558663
  REMARK    GeneRIF: PRMT1 methylation of WTAP promotes multiple myeloma
            tumorigenesis by activating oxidative phosphorylation via m6A
            modification of NDUFS6.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 518)
  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 518)
  AUTHORS   Zhang,Y., Guo,L., Han,S., Chen,L., Li,C., Zhang,Z., Hong,Y.,
            Zhang,X., Zhou,X., Jiang,D., Liang,X., Qiu,J., Zhang,J., Li,X.,
            Zhong,S., Liao,C., Yan,B., Tse,H.F. and Lian,Q.
  TITLE     Adult mesenchymal stem cell ageing interplays with depressed
            mitochondrial Ndufs6
  JOURNAL   Cell Death Dis 11 (12), 1075 (2020)
   PUBMED   33323934
  REMARK    GeneRIF: Adult mesenchymal stem cell ageing interplays with
            depressed mitochondrial Ndufs6.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 518)
  AUTHORS   Johnstone,T., Wang,J., Ross,D., Balanda,N., Huang,Y., Godfrey,R.,
            Groden,C., Barton,B.R., Gahl,W., Toro,C. and Malicdan,M.C.V.
  TITLE     Biallelic variants in two complex I genes cause abnormal splicing
            defects in probands with mild Leigh syndrome
  JOURNAL   Mol Genet Metab 131 (1-2), 98-106 (2020)
   PUBMED   33097395
  REMARK    GeneRIF: Biallelic variants in two complex I genes cause abnormal
            splicing defects in probands with mild Leigh syndrome.
REFERENCE   6  (bases 1 to 518)
  AUTHORS   Kirby,D.M., Salemi,R., Sugiana,C., Ohtake,A., Parry,L., Bell,K.M.,
            Kirk,E.P., Boneh,A., Taylor,R.W., Dahl,H.H., Ryan,M.T. and
            Thorburn,D.R.
  TITLE     NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial
            complex I deficiency
  JOURNAL   J Clin Invest 114 (6), 837-845 (2004)
   PUBMED   15372108
  REMARK    GeneRIF: NDUFS6, a complex I subunit gene not previously associated
            with complex I deficiency, was grossly underexpressed in t patient
            cell lines.
REFERENCE   7  (bases 1 to 518)
  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   8  (bases 1 to 518)
  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   9  (bases 1 to 518)
  AUTHORS   Loeffen,J., van den Heuvel,L., Smeets,R., Triepels,R., Sengers,R.,
            Trijbels,F. and Smeitink,J.
  TITLE     cDNA sequence and chromosomal localization of the remaining three
            human nuclear encoded iron sulphur protein (IP) subunits of complex
            I: the human IP fraction is completed
  JOURNAL   Biochem Biophys Res Commun 247 (3), 751-758 (1998)
   PUBMED   9647766
REFERENCE   10 (bases 1 to 518)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC038664.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 26, 2019 this sequence version replaced NM_004553.5.
            
            Summary: This gene encodes a subunit of the NADH:ubiquinone
            oxidoreductase (complex I), which is the first enzyme complex in
            the electron transport chain of mitochondria. This complex
            functions in the transfer of electrons from NADH to the respiratory
            chain. The subunit encoded by this gene is one of seven subunits in
            the iron-sulfur protein fraction. Mutations in this gene cause
            mitochondrial complex I deficiency, a disease that causes a wide
            variety of clinical disorders, including neonatal disease and
            adult-onset neurodegenerative disorders.[provided by RefSeq, Oct
            2009].
            
            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 :: BC038664.1, EB387195.1 [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                 :: ENST00000274137.10/
                                                  ENSP00000274137.6
            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
            1-518               BC038664.1         5-522
FEATURES             Location/Qualifiers
     source          1..518
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p15.33"
     gene            1..518
                     /gene="NDUFS6"
                     /gene_synonym="CI-13kA; CI-13kD-A; CI13KDA; MC1DN9"
                     /note="NADH:ubiquinone oxidoreductase subunit S6"
                     /db_xref="GeneID:4726"
                     /db_xref="HGNC:HGNC:7713"
                     /db_xref="MIM:603848"
     exon            1..143
                     /gene="NDUFS6"
                     /gene_synonym="CI-13kA; CI-13kD-A; CI13KDA; MC1DN9"
                     /inference="alignment:Splign:2.1.0"
     CDS             12..386
                     /gene="NDUFS6"
                     /gene_synonym="CI-13kA; CI-13kD-A; CI13KDA; MC1DN9"
                     /EC_number="1.6.99.3"
                     /EC_number="7.1.1.2"
                     /note="complex I 13kDa subunit A; NADH-ubiquinone
                     oxidoreductase 13 kDa-A subunit; complex I, mitochondrial
                     respiratory chain, 13-kD subunit; NADH:ubiquinone
                     oxidoreductase NDUFS6 subunit; NADH dehydrogenase
                     [ubiquinone] iron-sulfur protein 6, mitochondrial; NADH
                     dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa
                     (NADH-coenzyme Q reductase)"
                     /codon_start=1
                     /product="NADH dehydrogenase [ubiquinone] iron-sulfur
                     protein 6, mitochondrial precursor"
                     /protein_id="NP_004544.1"
                     /db_xref="CCDS:CCDS3866.1"
                     /db_xref="GeneID:4726"
                     /db_xref="HGNC:HGNC:7713"
                     /db_xref="MIM:603848"
                     /translation="MAAAMTFCRLLNRCGEAARSLPLGARCFGVRVSPTGEKVTHTGQ
                     VYDDKDYRRIRFVGRQKEVNENFAIDLIAEQPVSEVETRVIACDGGGGALGHPKVYIN
                     LDKETKTGTCGYCGLQFRQHHH"
     exon            144..197
                     /gene="NDUFS6"
                     /gene_synonym="CI-13kA; CI-13kD-A; CI13KDA; MC1DN9"
                     /inference="alignment:Splign:2.1.0"
     exon            198..320
                     /gene="NDUFS6"
                     /gene_synonym="CI-13kA; CI-13kD-A; CI13KDA; MC1DN9"
                     /inference="alignment:Splign:2.1.0"
     exon            321..518
                     /gene="NDUFS6"
                     /gene_synonym="CI-13kA; CI-13kD-A; CI13KDA; MC1DN9"
                     /inference="alignment:Splign:2.1.0"
     regulatory      492..497
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFS6"
                     /gene_synonym="CI-13kA; CI-13kD-A; CI13KDA; MC1DN9"
                     /note="hexamer: AATAAA"
     polyA_site      518
                     /gene="NDUFS6"
                     /gene_synonym="CI-13kA; CI-13kD-A; CI13KDA; MC1DN9"
                     /note="major polyA site"
ORIGIN      
        1 agcggcgcaa aatggcggcg gcgatgacct tctgccggct gctgaaccgg tgtggcgagg
       61 cggcgcggag cctgcccctg ggcgccaggt gtttcggggt gcgggtctcg ccgaccgggg
      121 agaaggtcac gcacactggc caggtttatg atgataaaga ctacaggaga attcggtttg
      181 taggtcgtca gaaagaggtg aatgaaaact ttgccattga tttgatagca gagcagcccg
      241 tgagcgaggt ggagactcgg gtgatagcgt gcgatggcgg cgggggagct cttggccacc
      301 caaaagtgta tataaacttg gacaaagaaa caaaaaccgg cacatgcggt tactgtgggc
      361 tccagttcag acagcaccac cactagagcg tgtggcacgc cgggggtccc gcagcatcct
      421 gtgagcattt ccgcggggaa gctgagcacg tgaagctcgc tggttctgtg cgaagggtat
      481 tcctggtgct gaataaaggg tgttgctgtc aaggctga
//
