LOCUS       NM_001377299            1613 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens NADH:ubiquinone oxidoreductase core subunit S2
            (NDUFS2), transcript variant 4, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_001377299
VERSION     NM_001377299.1
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 1613)
  AUTHORS   Huang,X.D., Chen,Y.W., Tian,L., Du,L., Cheng,X.C., Lu,Y.X.,
            Lin,D.D. and Xiao,F.J.
  TITLE     NUDT21 interacts with NDUFS2 to activate the PI3K/AKT pathway and
            promotes pancreatic cancer pathogenesis
  JOURNAL   J Cancer Res Clin Oncol 150 (1), 8 (2024)
   PUBMED   38195952
  REMARK    GeneRIF: NUDT21 interacts with NDUFS2 to activate the PI3K/AKT
            pathway and promotes pancreatic cancer pathogenesis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1613)
  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 1613)
  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 1613)
  AUTHORS   Bandara,A.B., Drake,J.C., James,C.C., Smyth,J.W. and Brown,D.A.
  TITLE     Complex I protein NDUFS2 is vital for growth, ROS generation,
            membrane integrity, apoptosis, and mitochondrial energetics
  JOURNAL   Mitochondrion 58, 160-168 (2021)
   PUBMED   33744462
  REMARK    GeneRIF: Complex I protein NDUFS2 is vital for growth, ROS
            generation, membrane integrity, apoptosis, and mitochondrial
            energetics.
REFERENCE   5  (bases 1 to 1613)
  AUTHORS   Sharanek,A., Burban,A., Laaper,M., Heckel,E., Joyal,J.S.,
            Soleimani,V.D. and Jahani-Asl,A.
  TITLE     OSMR controls glioma stem cell respiration and confers resistance
            of glioblastoma to ionizing radiation
  JOURNAL   Nat Commun 11 (1), 4116 (2020)
   PUBMED   32807793
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1613)
  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   7  (bases 1 to 1613)
  AUTHORS   Procaccio,V., de Sury,R., Martinez,P., Depetris,D., Rabilloud,T.,
            Soularue,P., Lunardi,J. and Issartel,J.
  TITLE     Mapping to 1q23 of the human gene (NDUFS2) encoding the 49-kDa
            subunit of the mitochondrial respiratory Complex I and
            immunodetection of the mature protein in mitochondria
  JOURNAL   Mamm Genome 9 (6), 482-484 (1998)
   PUBMED   9585441
REFERENCE   8  (bases 1 to 1613)
  AUTHORS   Gress,T.M., Muller-Pillasch,F., Geng,M., Zimmerhackl,F.,
            Zehetner,G., Friess,H., Buchler,M., Adler,G. and Lehrach,H.
  TITLE     A pancreatic cancer-specific expression profile
  JOURNAL   Oncogene 13 (8), 1819-1830 (1996)
   PUBMED   8895530
REFERENCE   9  (bases 1 to 1613)
  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
REFERENCE   10 (bases 1 to 1613)
  AUTHORS   Fearnley,I.M., Finel,M., Skehel,J.M. and Walker,J.E.
  TITLE     NADH:ubiquinone oxidoreductase from bovine heart mitochondria. cDNA
            sequences of the import precursors of the nuclear-encoded 39 kDa
            and 42 kDa subunits
  JOURNAL   Biochem J 278 (Pt 3) (Pt 3), 821-829 (1991)
   PUBMED   1832859
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL590714.27.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The protein encoded by this gene is a core subunit of the
            mitochondrial membrane respiratory chain NADH dehydrogenase
            (complex I). Mammalian mitochondrial complex I is composed of at
            least 43 different subunits, 7 of which are encoded by the
            mitochondrial genome, and the rest are the products of nuclear
            genes. The iron-sulfur protein fraction of complex I is made up of
            7 subunits, including this gene product. Complex I catalyzes the
            NADH oxidation with concomitant ubiquinone reduction and proton
            ejection out of the mitochondria. Mutations in this gene are
            associated with mitochondrial complex I deficiency. Alternatively
            spliced transcript variants encoding different isoforms have been
            found for this gene.[provided by RefSeq, Oct 2009].
            
            Transcript Variant: This variant (4), as well as variants 1 and 3,
            encodes isoform 1.
            
            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 :: BC000170.2, AF050640.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000676972.1/
                                                  ENSP00000503117.1
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression,
                                                  longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-114               AL590714.27        57547-57660
            115-221             AL590714.27        58617-58723
            222-412             AL590714.27        61587-61777
            413-533             AL590714.27        64373-64493
            534-646             AL590714.27        64663-64775
            647-721             AL590714.27        65037-65111
            722-799             AL590714.27        65291-65368
            800-885             AL590714.27        65484-65569
            886-1005            AL590714.27        65771-65890
            1006-1135           AL590714.27        67531-67660
            1136-1231           AL590714.27        68560-68655
            1232-1315           AL590714.27        68829-68912
            1316-1373           AL590714.27        69044-69101
            1374-1613           AL590714.27        69336-69575
FEATURES             Location/Qualifiers
     source          1..1613
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.3"
     gene            1..1613
                     /gene="NDUFS2"
                     /gene_synonym="CI-49; LHONAR2; MC1DN6"
                     /note="NADH:ubiquinone oxidoreductase core subunit S2"
                     /db_xref="GeneID:4720"
                     /db_xref="HGNC:HGNC:7708"
                     /db_xref="MIM:602985"
     exon            1..114
                     /gene="NDUFS2"
                     /gene_synonym="CI-49; LHONAR2; MC1DN6"
                     /inference="alignment:Splign:2.1.0"
     CDS             20..1411
                     /gene="NDUFS2"
                     /gene_synonym="CI-49; LHONAR2; MC1DN6"
                     /EC_number="7.1.1.2"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 4; complex I 49kDa subunit; NADH dehydrogenase
                     [ubiquinone] iron-sulfur protein 2, mitochondrial; complex
                     1, mitochondrial respiratory chain, 49-KD subunit;
                     NADH-ubiquinone oxidoreductase NDUFS2 subunit; CI-49kD;
                     NADH-ubiquinone oxidoreductase 49 kDa subunit; NADH
                     dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa
                     (NADH-coenzyme Q reductase)"
                     /codon_start=1
                     /product="NADH dehydrogenase [ubiquinone] iron-sulfur
                     protein 2, mitochondrial isoform 1 precursor"
                     /protein_id="NP_001364228.1"
                     /db_xref="CCDS:CCDS1224.1"
                     /db_xref="GeneID:4720"
                     /db_xref="HGNC:HGNC:7708"
                     /db_xref="MIM:602985"
                     /translation="MAALRALCGFRGVAAQVLRPGAGVRLPIQPSRGVRQWQPDVEWA
                     QQFGGAVMYPSKETAHWKPPPWNDVDPPKDTIVKNITLNFGPQHPAAHGVLRLVMELS
                     GEMVRKCDPHIGLLHRGTEKLIEYKTYLQALPYFDRLDYVSMMCNEQAYSLAVEKLLN
                     IRPPPRAQWIRVLFGEITRLLNHIMAVTTHALDLGAMTPFFWLFEEREKMFEFYERVS
                     GARMHAAYIRPGGVHQDLPLGLMDDIYQFSKNFSLRLDELEELLTNNRIWRNRTIDIG
                     VVTAEEALNYGFSGVMLRGSGIQWDLRKTQPYDVYDQVEFDVPVGSRGDCYDRYLCRV
                     EEMRQSLRIIAQCLNKMPPGEIKVDDAKVSPPKRAEMKTSMESLIHHFKLYTEGYQVP
                     PGATYTAIEAPKGEFGVYLVSDGSSRPYRCKIKAPGFAHLAGLDKMSKGHMLADVVAI
                     IGTQDIVFGEVDR"
     exon            115..221
                     /gene="NDUFS2"
                     /gene_synonym="CI-49; LHONAR2; MC1DN6"
                     /inference="alignment:Splign:2.1.0"
     exon            222..412
                     /gene="NDUFS2"
                     /gene_synonym="CI-49; LHONAR2; MC1DN6"
                     /inference="alignment:Splign:2.1.0"
     exon            413..533
                     /gene="NDUFS2"
                     /gene_synonym="CI-49; LHONAR2; MC1DN6"
                     /inference="alignment:Splign:2.1.0"
     exon            534..646
                     /gene="NDUFS2"
                     /gene_synonym="CI-49; LHONAR2; MC1DN6"
                     /inference="alignment:Splign:2.1.0"
     exon            647..721
                     /gene="NDUFS2"
                     /gene_synonym="CI-49; LHONAR2; MC1DN6"
                     /inference="alignment:Splign:2.1.0"
     exon            722..799
                     /gene="NDUFS2"
                     /gene_synonym="CI-49; LHONAR2; MC1DN6"
                     /inference="alignment:Splign:2.1.0"
     exon            800..885
                     /gene="NDUFS2"
                     /gene_synonym="CI-49; LHONAR2; MC1DN6"
                     /inference="alignment:Splign:2.1.0"
     exon            886..1005
                     /gene="NDUFS2"
                     /gene_synonym="CI-49; LHONAR2; MC1DN6"
                     /inference="alignment:Splign:2.1.0"
     exon            1006..1135
                     /gene="NDUFS2"
                     /gene_synonym="CI-49; LHONAR2; MC1DN6"
                     /inference="alignment:Splign:2.1.0"
     exon            1136..1231
                     /gene="NDUFS2"
                     /gene_synonym="CI-49; LHONAR2; MC1DN6"
                     /inference="alignment:Splign:2.1.0"
     exon            1232..1315
                     /gene="NDUFS2"
                     /gene_synonym="CI-49; LHONAR2; MC1DN6"
                     /inference="alignment:Splign:2.1.0"
     exon            1316..1373
                     /gene="NDUFS2"
                     /gene_synonym="CI-49; LHONAR2; MC1DN6"
                     /inference="alignment:Splign:2.1.0"
     exon            1374..1613
                     /gene="NDUFS2"
                     /gene_synonym="CI-49; LHONAR2; MC1DN6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1579..1584
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFS2"
                     /gene_synonym="CI-49; LHONAR2; MC1DN6"
                     /note="hexamer: AATAAA"
     polyA_site      1613
                     /gene="NDUFS2"
                     /gene_synonym="CI-49; LHONAR2; MC1DN6"
                     /note="major polyA site"
ORIGIN      
        1 agtctgcagc cggagtaaga tggcggcgct gagggctttg tgcggcttcc ggggcgtcgc
       61 ggcccaggtg ctgcggcctg gggctggagt ccgattgccg attcagccca gcagaggtgt
      121 tcggcagtgg cagccagatg tggaatgggc acagcagttt gggggagctg ttatgtaccc
      181 aagcaaagaa acagcccact ggaagcctcc accttggaat gatgtggacc ctccaaagga
      241 cacaattgtg aagaacatta ccctgaactt tgggccccaa cacccagcag cgcatggtgt
      301 cctgcgacta gtgatggaat tgagtgggga gatggtgcgg aagtgtgatc ctcacatcgg
      361 gctcctgcac cgaggcactg agaagctcat tgaatacaag acctatcttc aggcccttcc
      421 atactttgac cggctagact atgtgtccat gatgtgtaac gaacaggcct attctctagc
      481 tgtggagaag ttgctaaaca tccggcctcc tcctcgggca cagtggatcc gagtgctgtt
      541 tggagaaatc acacgtttgt tgaaccacat catggctgtg accacacatg ccctggacct
      601 tggggccatg acccctttct tctggctgtt tgaagaaagg gagaagatgt ttgagttcta
      661 cgagcgagtg tctggagccc gaatgcatgc tgcttatatc cggccaggag gagtgcacca
      721 ggacctaccc cttgggctta tggatgacat ttatcagttt tctaagaact tctctcttcg
      781 gcttgatgag ttggaggagt tgctgaccaa caataggatc tggcgaaatc ggacaattga
      841 cattggggtt gtaacagcag aagaagcact taactatggt tttagtggag tgatgcttcg
      901 gggctcaggc atccagtggg acctgcggaa gacccagccc tatgatgttt acgaccaggt
      961 tgagtttgat gttcctgttg gttctcgagg ggactgctat gataggtacc tgtgccgggt
     1021 ggaggagatg cgccagtccc tgagaattat cgcacagtgt ctaaacaaga tgcctcctgg
     1081 ggagatcaag gttgatgatg ccaaagtgtc tccacctaag cgagcagaga tgaagacttc
     1141 catggagtca ctgattcatc actttaagtt gtatactgag ggctaccaag ttcctccagg
     1201 agccacatat actgccattg aggctcccaa gggagagttt ggggtgtacc tggtgtctga
     1261 tggcagcagc cgcccttatc gatgcaagat caaggctcct ggttttgccc atctggctgg
     1321 tttggacaag atgtctaagg gacacatgtt ggcagatgtc gttgccatca taggtaccca
     1381 agatattgta tttggagaag tagatcggtg agcaggggag cagcgtttga tcccccctgc
     1441 ctatcagctt cttctgtgga gcctgttcct cactggaaat tggcctctgt gtgtgtgtgt
     1501 gtgtgtgtgt gtgtgtgtat gttcatgtac acttggctgt caggctttct gtgcatgtac
     1561 taaaaaagga gaaattataa taaattagcc gtcttgcggc ccctaggcct aaa
//
