LOCUS       NM_002496                737 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens NADH:ubiquinone oxidoreductase core subunit S8
            (NDUFS8), mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_002496
VERSION     NM_002496.4
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 737)
  AUTHORS   Xiong,Q.W., Jiang,K., Shen,X.W., Ma,Z.R., Yan,X.M., Xia,H. and
            Cao,X.
  TITLE     The requirement of the mitochondrial protein NDUFS8 for
            angiogenesis
  JOURNAL   Cell Death Dis 15 (4), 253 (2024)
   PUBMED   38594244
  REMARK    GeneRIF: The requirement of the mitochondrial protein NDUFS8 for
            angiogenesis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 737)
  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 737)
  AUTHORS   Moutaoufik,M.T., Malty,R., Amin,S., Zhang,Q., Phanse,S.,
            Gagarinova,A., Zilocchi,M., Hoell,L., Minic,Z., Gagarinova,M.,
            Aoki,H., Stockwell,J., Jessulat,M., Goebels,F., Broderick,K.,
            Scott,N.E., Vlasblom,J., Musso,G., Prasad,B., Lamantea,E.,
            Garavaglia,B., Rajput,A., Murayama,K., Okazaki,Y., Foster,L.J.,
            Bader,G.D., Cayabyab,F.S. and Babu,M.
  TITLE     Rewiring of the Human Mitochondrial Interactome during Neuronal
            Reprogramming Reveals Regulators of the Respirasome and
            Neurogenesis
  JOURNAL   iScience 19, 1114-1132 (2019)
   PUBMED   31536960
REFERENCE   4  (bases 1 to 737)
  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 737)
  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 737)
  AUTHORS   Loeffen,J., Smeitink,J., Triepels,R., Smeets,R., Schuelke,M.,
            Sengers,R., Trijbels,F., Hamel,B., Mullaart,R. and van den
            Heuvel,L.
  TITLE     The first nuclear-encoded complex I mutation in a patient with
            Leigh syndrome
  JOURNAL   Am J Hum Genet 63 (6), 1598-1608 (1998)
   PUBMED   9837812
REFERENCE   7  (bases 1 to 737)
  AUTHORS   de Sury,R., Martinez,P., Procaccio,V., Lunardi,J. and Issartel,J.P.
  TITLE     Genomic structure of the human NDUFS8 gene coding for the
            iron-sulfur TYKY subunit of the mitochondrial NADH:ubiquinone
            oxidoreductase
  JOURNAL   Gene 215 (1), 1-10 (1998)
   PUBMED   9666055
REFERENCE   8  (bases 1 to 737)
  AUTHORS   Procaccio,V., Depetris,D., Soularue,P., Mattei,M.G., Lunardi,J. and
            Issartel,J.P.
  TITLE     cDNA sequence and chromosomal localization of the NDUFS8 human gene
            coding for the 23 kDa subunit of the mitochondrial complex I
  JOURNAL   Biochim Biophys Acta 1351 (1-2), 37-41 (1997)
   PUBMED   9116042
REFERENCE   9  (bases 1 to 737)
  AUTHORS   Dunbar,D.R., Shibasaki,Y., Dobbie,L., Andersson,B. and Brookes,A.J.
  TITLE     In situ hybridisation mapping of genomic clones for five human
            respiratory chain complex I genes
  JOURNAL   Cytogenet Cell Genet 78 (1), 21-24 (1997)
   PUBMED   9345899
REFERENCE   10 (bases 1 to 737)
  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 AP002807.3 and U65579.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_002496.3.
            
            Summary: This gene encodes a subunit of mitochondrial
            NADH:ubiquinone oxidoreductase, or Complex I, a multimeric enzyme
            of the respiratory chain responsible for NADH oxidation, ubiquinone
            reduction, and the ejection of protons from mitochondria. The
            encoded protein is involved in the binding of two of the six to
            eight iron-sulfur clusters of Complex I and, as such, is required
            in the electron transfer process. Mutations in this gene have been
            associated with Leigh syndrome. [provided by RefSeq, Mar 2010].
            
            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 :: AK223114.1, SRR1163657.371696.1
                                           [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                 :: ENST00000313468.10/
                                                  ENSP00000315774.5
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-13                AP002807.3         2093-2105
            14-737              U65579.1           1-724
FEATURES             Location/Qualifiers
     source          1..737
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.2"
     gene            1..737
                     /gene="NDUFS8"
                     /gene_synonym="CI-23k; CI23KD; MC1DN2; TYKY"
                     /note="NADH:ubiquinone oxidoreductase core subunit S8"
                     /db_xref="GeneID:4728"
                     /db_xref="HGNC:HGNC:7715"
                     /db_xref="MIM:602141"
     exon            1..53
                     /gene="NDUFS8"
                     /gene_synonym="CI-23k; CI23KD; MC1DN2; TYKY"
                     /inference="alignment:Splign:2.1.0"
     CDS             54..686
                     /gene="NDUFS8"
                     /gene_synonym="CI-23k; CI23KD; MC1DN2; TYKY"
                     /EC_number="7.1.1.2"
                     /note="complex I 23kDa subunit; complex I-23kD;
                     NADH-ubiquinone oxidoreductase 23 kDa subunit; NADH
                     dehydrogenase [ubiquinone] iron-sulfur protein 8,
                     mitochondrial; NADH dehydrogenase (ubiquinone) Fe-S
                     protein 8, 23kDa (NADH-coenzyme Q reductase)"
                     /codon_start=1
                     /product="NADH dehydrogenase [ubiquinone] iron-sulfur
                     protein 8, mitochondrial precursor"
                     /protein_id="NP_002487.1"
                     /db_xref="CCDS:CCDS8176.1"
                     /db_xref="GeneID:4728"
                     /db_xref="HGNC:HGNC:7715"
                     /db_xref="MIM:602141"
                     /translation="MRCLTTPMLLRALAQAARAGPPGGRSLHSSAVAATYKYVNMQDP
                     EMDMKSVTDRAARTLLWTELFRGLGMTLSYLFREPATINYPFEKGPLSPRFRGEHALR
                     RYPSGEERCIACKLCEAICPAQAITIEAEPRADGSRRTTRYDIDMTKCIYCGFCQEAC
                     PVDAIVEGPNFEFSTETHEELLYNKEKLLNNGDKWEAEIAANIQADYLYR"
     exon            54..111
                     /gene="NDUFS8"
                     /gene_synonym="CI-23k; CI23KD; MC1DN2; TYKY"
                     /inference="alignment:Splign:2.1.0"
     exon            112..162
                     /gene="NDUFS8"
                     /gene_synonym="CI-23k; CI23KD; MC1DN2; TYKY"
                     /inference="alignment:Splign:2.1.0"
     exon            163..252
                     /gene="NDUFS8"
                     /gene_synonym="CI-23k; CI23KD; MC1DN2; TYKY"
                     /inference="alignment:Splign:2.1.0"
     exon            253..425
                     /gene="NDUFS8"
                     /gene_synonym="CI-23k; CI23KD; MC1DN2; TYKY"
                     /inference="alignment:Splign:2.1.0"
     exon            426..554
                     /gene="NDUFS8"
                     /gene_synonym="CI-23k; CI23KD; MC1DN2; TYKY"
                     /inference="alignment:Splign:2.1.0"
     exon            555..737
                     /gene="NDUFS8"
                     /gene_synonym="CI-23k; CI23KD; MC1DN2; TYKY"
                     /inference="alignment:Splign:2.1.0"
     regulatory      717..722
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFS8"
                     /gene_synonym="CI-23k; CI23KD; MC1DN2; TYKY"
                     /note="hexamer: AATAAA"
     polyA_site      737
                     /gene="NDUFS8"
                     /gene_synonym="CI-23k; CI23KD; MC1DN2; TYKY"
                     /note="major polyA site"
ORIGIN      
        1 gcctcccgat tgactggcct gcttggcaag gcaagtagcg gcggcgcttc aagatgcgct
       61 gcctgaccac gcctatgctg ctgcgggccc tggcccaggc tgcacgtgca ggacctcctg
      121 gtggccggag cctccacagc agtgcagtgg cagccaccta caagtatgtg aacatgcagg
      181 atcccgagat ggacatgaag tcagtgactg accgggcagc ccgcaccctg ctgtggactg
      241 agctcttccg aggcctgggc atgaccctga gctacctgtt ccgggaaccg gccaccatca
      301 actacccgtt cgagaagggc ccgctgagcc ctcgcttccg tggggagcat gcgctgcgcc
      361 ggtacccatc cggggaggag cgttgcattg cctgcaagct ctgcgaggcc atctgccccg
      421 cccaggccat caccatcgag gctgagccaa gagctgatgg cagccgccgg accacccgct
      481 atgacatcga catgaccaag tgcatctact gcggcttctg ccaggaggcc tgtcccgtgg
      541 atgccatcgt cgagggcccc aactttgagt tctccacgga gacccatgag gagctgctgt
      601 acaacaagga gaagttgctc aacaacgggg acaagtggga ggccgagatc gccgccaaca
      661 tccaggctga ctacttgtat cggtgacgcc ccaccggccc gcagcccctg ctgcccaata
      721 aaaccactcc gacccca
//
