LOCUS       NM_024407                758 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens NADH:ubiquinone oxidoreductase core subunit S7
            (NDUFS7), transcript variant 1, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_024407 XM_352927
VERSION     NM_024407.5
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 758)
  AUTHORS   Chen,J. and Gao,L.
  TITLE     SLC7A11-mediated cystine import protects against NDUFS7
            deficiency-induced cell death in HEK293T cells
  JOURNAL   Biochem Biophys Res Commun 723, 150178 (2024)
   PUBMED   38823363
  REMARK    GeneRIF: SLC7A11-mediated cystine import protects against NDUFS7
            deficiency-induced cell death in HEK293T cells.
REFERENCE   2  (bases 1 to 758)
  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 758)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 758)
  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   5  (bases 1 to 758)
  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   6  (bases 1 to 758)
  AUTHORS   Triepels,R.H., van den Heuvel,L.P., Loeffen,J.L., Buskens,C.A.,
            Smeets,R.J., Rubio Gozalbo,M.E., Budde,S.M., Mariman,E.C.,
            Wijburg,F.A., Barth,P.G., Trijbels,J.M. and Smeitink,J.A.
  TITLE     Leigh syndrome associated with a mutation in the NDUFS7 (PSST)
            nuclear encoded subunit of complex I
  JOURNAL   Ann Neurol 45 (6), 787-790 (1999)
   PUBMED   10360771
REFERENCE   7  (bases 1 to 758)
  AUTHORS   Smeitink,J. and van den Heuvel,L.
  TITLE     Human mitochondrial complex I in health and disease
  JOURNAL   Am J Hum Genet 64 (6), 1505-1510 (1999)
   PUBMED   10330338
  REMARK    Review article
REFERENCE   8  (bases 1 to 758)
  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 758)
  AUTHORS   Hyslop,S.J., Duncan,A.M., Pitkanen,S. and Robinson,B.H.
  TITLE     Assignment of the PSST subunit gene of human mitochondrial complex
            I to chromosome 19p13
  JOURNAL   Genomics 37 (3), 375-380 (1996)
   PUBMED   8938450
REFERENCE   10 (bases 1 to 758)
  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 DC340464.1 and BC001715.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_024407.4.
            
            Summary: This gene encodes a protein that is a subunit of one of
            the complexes that forms the mitochondrial respiratory chain. This
            protein is one of over 40 subunits found in complex I, the
            nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase.
            This complex functions in the transfer of electrons from NADH to
            the respiratory chain, and ubiquinone is believed to be the
            immediate electron acceptor for the enzyme. Mutations in this gene
            cause Leigh syndrome due to mitochondrial complex I deficiency, a
            severe neurological disorder that results in bilaterally
            symmetrical necrotic lesions in subcortical brain regions.
            [provided by RefSeq, Jul 2008].
            
            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 :: AK222738.1, SRR1163657.243667.1
                                           [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                 :: ENST00000233627.14/
                                                  ENSP00000233627.9
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-36                DC340464.1         24-59
            37-758              BC001715.3         3-724
FEATURES             Location/Qualifiers
     source          1..758
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..758
                     /gene="NDUFS7"
                     /gene_synonym="CI-20; CI-20KD; MC1DN3; MY017; PSST"
                     /note="NADH:ubiquinone oxidoreductase core subunit S7"
                     /db_xref="GeneID:374291"
                     /db_xref="HGNC:HGNC:7714"
                     /db_xref="MIM:601825"
     exon            1..36
                     /gene="NDUFS7"
                     /gene_synonym="CI-20; CI-20KD; MC1DN3; MY017; PSST"
                     /inference="alignment:Splign:2.1.0"
     CDS             21..662
                     /gene="NDUFS7"
                     /gene_synonym="CI-20; CI-20KD; MC1DN3; MY017; PSST"
                     /EC_number="7.1.1.2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     complex I 20kDa subunit; NADH-coenzyme Q reductase; NADH
                     dehydrogenase [ubiquinone] iron-sulfur protein 7,
                     mitochondrial; complex I-20kD; complex I, mitochondrial
                     respiratory chain, 20-KD subunit; NADH:ubiquinone
                     oxidoreductase PSST subunit; NADH-ubiquinone
                     oxidoreductase 20 kDa subunit; NADH dehydrogenase
                     (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q
                     reductase)"
                     /codon_start=1
                     /product="NADH dehydrogenase [ubiquinone] iron-sulfur
                     protein 7, mitochondrial isoform 1"
                     /protein_id="NP_077718.3"
                     /db_xref="CCDS:CCDS12063.1"
                     /db_xref="GeneID:374291"
                     /db_xref="HGNC:HGNC:7714"
                     /db_xref="MIM:601825"
                     /translation="MAVLSAPGLRGFRILGLRSSVGPAVQARGVHQSVATDGPSSTQP
                     ALPKARAVAPKPSSRGEYVVAKLDDLVNWARRSSLWPMTFGLACCAVEMMHMAAPRYD
                     MDRFGVVFRASPRQSDVMIVAGTLTNKMAPALRKVYDQMPEPRYVVSMGSCANGGGYY
                     HYSYSVVRGCDRIVPVDIYIPGCPPTAEALLYGILQLQRKIKRERRLQIWYRR"
     exon            37..73
                     /gene="NDUFS7"
                     /gene_synonym="CI-20; CI-20KD; MC1DN3; MY017; PSST"
                     /inference="alignment:Splign:2.1.0"
     exon            74..142
                     /gene="NDUFS7"
                     /gene_synonym="CI-20; CI-20KD; MC1DN3; MY017; PSST"
                     /inference="alignment:Splign:2.1.0"
     exon            143..248
                     /gene="NDUFS7"
                     /gene_synonym="CI-20; CI-20KD; MC1DN3; MY017; PSST"
                     /inference="alignment:Splign:2.1.0"
     exon            249..428
                     /gene="NDUFS7"
                     /gene_synonym="CI-20; CI-20KD; MC1DN3; MY017; PSST"
                     /inference="alignment:Splign:2.1.0"
     exon            429..475
                     /gene="NDUFS7"
                     /gene_synonym="CI-20; CI-20KD; MC1DN3; MY017; PSST"
                     /inference="alignment:Splign:2.1.0"
     exon            476..564
                     /gene="NDUFS7"
                     /gene_synonym="CI-20; CI-20KD; MC1DN3; MY017; PSST"
                     /inference="alignment:Splign:2.1.0"
     exon            565..758
                     /gene="NDUFS7"
                     /gene_synonym="CI-20; CI-20KD; MC1DN3; MY017; PSST"
                     /inference="alignment:Splign:2.1.0"
     regulatory      733..738
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFS7"
                     /gene_synonym="CI-20; CI-20KD; MC1DN3; MY017; PSST"
                     /note="hexamer: AATAAA"
     polyA_site      758
                     /gene="NDUFS7"
                     /gene_synonym="CI-20; CI-20KD; MC1DN3; MY017; PSST"
                     /note="major polyA site"
ORIGIN      
        1 gtctgaaggc cgaggccaag atggcggtgc tgtcagctcc tggcctgcgc ggcttccgga
       61 tccttggtct gcgctccagc gtgggcccgg ctgtgcaggc acgaggtgtc catcagagcg
      121 tggccaccga tggcccaagc agcacccagc ctgccctgcc aaaggccaga gccgtggctc
      181 ccaaacccag cagccggggc gagtatgtgg tggccaagct ggatgacctc gtcaactggg
      241 cccgccggag ttctctgtgg cccatgacct tcggcctggc ctgctgcgcc gtggagatga
      301 tgcacatggc agcaccccgc tacgacatgg accgctttgg cgtggtcttc cgcgccagcc
      361 cgcgccagtc cgacgtcatg atcgtggccg gcacactcac caacaagatg gccccagcgc
      421 ttcgcaaggt ctacgaccag atgccggagc cgcgctacgt ggtctccatg gggagctgcg
      481 ccaacggagg aggctactac cactattcct actcggtggt gaggggctgc gaccgcatcg
      541 tgcccgtgga catctacatc ccaggctgcc cacctacggc cgaggccctg ctctacggca
      601 tcctgcagct gcagaggaag atcaagcggg agcggaggct gcagatctgg taccgcaggt
      661 agcgccgccg ccgccgccgc cggagcctgt cgccgtcctg tccccagcct gcttgtgtcc
      721 cgtgaggttg tcaataaacc tgccctcggg ctgccgcc
//
