LOCUS       NM_004551                894 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens NADH:ubiquinone oxidoreductase core subunit S3
            (NDUFS3), mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_004551
VERSION     NM_004551.3
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 894)
  AUTHORS   Yang,Y., Li,J.H., Yao,B.C., Chen,Q.L., Jiang,N., Wang,L.Q. and
            Guo,Z.G.
  TITLE     NDUFB11 and NDUFS3 play a role in atherosclerosis and chronic
            stress
  JOURNAL   Aging (Albany NY) 15 (16), 8026-8043 (2023)
   PUBMED   37642954
  REMARK    GeneRIF: NDUFB11 and NDUFS3 play a role in atherosclerosis and
            chronic stress.
REFERENCE   2  (bases 1 to 894)
  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   3  (bases 1 to 894)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 894)
  AUTHORS   Martinvalet,D., Dykxhoorn,D.M., Ferrini,R. and Lieberman,J.
  TITLE     Granzyme A cleaves a mitochondrial complex I protein to initiate
            caspase-independent cell death
  JOURNAL   Cell 133 (4), 681-692 (2008)
   PUBMED   18485875
REFERENCE   5  (bases 1 to 894)
  AUTHORS   Procaccio,V., Lescuyer,P., Bourges,I., Beugnot,R., Duborjal,H.,
            Depetris,D., Mousson,B., Montfort,M.F., Smeets,H., De Coo,R. and
            Issartel,J.P.
  TITLE     Human NDUFS3 gene coding for the 30-kDa subunit of mitochondrial
            complex I: genomic organization and expression
  JOURNAL   Mamm Genome 11 (9), 808-810 (2000)
   PUBMED   10967146
REFERENCE   6  (bases 1 to 894)
  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   7  (bases 1 to 894)
  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 894)
  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   9  (bases 1 to 894)
  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
REFERENCE   10 (bases 1 to 894)
  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 BC000617.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_004551.2.
            
            Summary: This gene encodes one of the iron-sulfur protein (IP)
            components of mitochondrial NADH:ubiquinone oxidoreductase (complex
            I). Mutations in this gene are associated with Leigh syndrome
            resulting from mitochondrial complex I deficiency.[provided by
            RefSeq, Apr 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 :: BC000617.2, SRR1163655.444410.1
                                           [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                 :: ENST00000263774.9/
                                                  ENSP00000263774.4
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-894               BC000617.2         3-896
FEATURES             Location/Qualifiers
     source          1..894
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     gene            1..894
                     /gene="NDUFS3"
                     /gene_synonym="CI-30; MC1DN8"
                     /note="NADH:ubiquinone oxidoreductase core subunit S3"
                     /db_xref="GeneID:4722"
                     /db_xref="HGNC:HGNC:7710"
                     /db_xref="MIM:603846"
     exon            1..85
                     /gene="NDUFS3"
                     /gene_synonym="CI-30; MC1DN8"
                     /inference="alignment:Splign:2.1.0"
     CDS             19..813
                     /gene="NDUFS3"
                     /gene_synonym="CI-30; MC1DN8"
                     /EC_number="7.1.1.2"
                     /note="complex I 30kDa subunit; NADH dehydrogenase
                     [ubiquinone] iron-sulfur protein 3, mitochondrial; NADH
                     dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa
                     (NADH-coenzyme Q reductase); NADH dehydrogenase-ubiquinone
                     30 kDa subunit; NADH-ubiquinone oxidoreductase 30 kDa
                     subunit; CI-30kD; complex I-30kD"
                     /codon_start=1
                     /product="NADH dehydrogenase [ubiquinone] iron-sulfur
                     protein 3, mitochondrial precursor"
                     /protein_id="NP_004542.1"
                     /db_xref="CCDS:CCDS7941.1"
                     /db_xref="GeneID:4722"
                     /db_xref="HGNC:HGNC:7710"
                     /db_xref="MIM:603846"
                     /translation="MAAAAVARLWWRGILGASALTRGTGRPSVLLLPVRRESAGADTR
                     PTVRPRNDVAHKQLSAFGEYVAEILPKYVQQVQVSCFNELEVCIHPDGVIPVLTFLRD
                     HTNAQFKSLVDLTAVDVPTRQNRFEIVYNLLSLRFNSRIRVKTYTDELTPIESAVSVF
                     KAANWYEREIWDMFGVFFANHPDLRRILTDYGFEGHPFRKDFPLSGYVELRYDDEVKR
                     VVAEPVELAQEFRKFDLNSPWEAFPVYRQPPESLKLEAGDKKPDAK"
     exon            86..151
                     /gene="NDUFS3"
                     /gene_synonym="CI-30; MC1DN8"
                     /inference="alignment:Splign:2.1.0"
     exon            152..249
                     /gene="NDUFS3"
                     /gene_synonym="CI-30; MC1DN8"
                     /inference="alignment:Splign:2.1.0"
     exon            250..399
                     /gene="NDUFS3"
                     /gene_synonym="CI-30; MC1DN8"
                     /inference="alignment:Splign:2.1.0"
     exon            400..525
                     /gene="NDUFS3"
                     /gene_synonym="CI-30; MC1DN8"
                     /inference="alignment:Splign:2.1.0"
     exon            526..645
                     /gene="NDUFS3"
                     /gene_synonym="CI-30; MC1DN8"
                     /inference="alignment:Splign:2.1.0"
     exon            646..894
                     /gene="NDUFS3"
                     /gene_synonym="CI-30; MC1DN8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      873..878
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFS3"
                     /gene_synonym="CI-30; MC1DN8"
                     /note="hexamer: AATAAA"
     polyA_site      894
                     /gene="NDUFS3"
                     /gene_synonym="CI-30; MC1DN8"
                     /note="major polyA site"
ORIGIN      
        1 agtctgcatc tgagtaacat ggcggcggcg gcggtagcca ggctgtggtg gcgcgggatc
       61 ttgggggcct cggcgctgac cagggggact gggcgaccct ccgttctgtt gctgccggtg
      121 aggcgggaga gcgccggggc cgacacgcgc cccactgtca gaccacggaa tgatgtggcc
      181 cacaagcagc tctcagcttt tggagagtat gtggctgaaa tcttgcccaa gtatgtccaa
      241 caagttcagg tgtcctgctt caatgagtta gaggtctgta tccatcctga tggcgtcatc
      301 ccagtgctga ctttcctcag ggatcacacc aatgcacagt tcaaatctct ggttgacttg
      361 acagcagtgg acgtcccaac tcggcaaaac cgttttgaga ttgtctacaa cctgttgtct
      421 ctgcgcttca actcacggat ccgtgtgaag acctacacag atgagctgac gcccattgag
      481 tctgctgtct ctgtgttcaa ggcagccaac tggtatgaaa gggagatctg ggacatgttt
      541 ggagtcttct ttgctaacca ccctgatcta agaaggatcc tgacagatta tggcttcgag
      601 ggacatcctt tccggaaaga ctttcctcta tctggctatg ttgagttacg ttatgatgat
      661 gaagtgaagc gggtggtggc agagccggtg gagttggccc aagagttccg caaatttgac
      721 ctgaacagcc cctgggaggc tttcccagtc tatcgccaac ccccggagag tctcaagctt
      781 gaagccggag acaagaagcc tgatgccaag tagctccagg gaacgcatgt ggatcctaga
      841 cagcgcctta tctatgattg agtgtccgtg taaataaatt cctacttaga ctta
//
