LOCUS       NM_004552                495 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens NADH:ubiquinone oxidoreductase subunit S5 (NDUFS5),
            transcript variant 1, mRNA.
ACCESSION   NM_004552
VERSION     NM_004552.3
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 495)
  AUTHORS   Salscheider,S.L., Gerlich,S., Cabrera-Orefice,A., Peker,E.,
            Rothemann,R.A., Murschall,L.M., Finger,Y., Szczepanowska,K.,
            Ahmadi,Z.A., Guerrero-Castillo,S., Erdogan,A., Becker,M., Ali,M.,
            Habich,M., Petrungaro,C., Burdina,N., Schwarz,G., Klussmann,M.,
            Neundorf,I., Stroud,D.A., Ryan,M.T., Trifunovic,A., Brandt,U. and
            Riemer,J.
  TITLE     AIFM1 is a component of the mitochondrial disulfide relay that
            drives complex I assembly through efficient import of NDUFS5
  JOURNAL   EMBO J 41 (17), e110784 (2022)
   PUBMED   35859387
  REMARK    GeneRIF: AIFM1 is a component of the mitochondrial disulfide relay
            that drives complex I assembly through efficient import of NDUFS5.
REFERENCE   2  (bases 1 to 495)
  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 495)
  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 495)
  AUTHORS   Iwahana,T., Okada,S., Kanda,M., Oshima,M., Iwama,A., Matsumiya,G.
            and Kobayashi,Y.
  TITLE     Novel myocardial markers GADD45G and NDUFS5 identified by
            RNA-sequencing predicts left ventricular reverse remodeling in
            advanced non-ischemic heart failure: a retrospective cohort study
  JOURNAL   BMC Cardiovasc Disord 20 (1), 116 (2020)
   PUBMED   32138671
  REMARK    GeneRIF: Novel myocardial markers GADD45G and NDUFS5 identified by
            RNA-sequencing predicts left ventricular reverse remodeling in
            advanced non-ischemic heart failure: a retrospective cohort study.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 495)
  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   6  (bases 1 to 495)
  AUTHORS   Triepels,R.H., Hanson,B.J., van den Heuvel,L.P., Sundell,L.,
            Marusich,M.F., Smeitink,J.A. and Capaldi,R.A.
  TITLE     Human complex I defects can be resolved by monoclonal antibody
            analysis into distinct subunit assembly patterns
  JOURNAL   J Biol Chem 276 (12), 8892-8897 (2001)
   PUBMED   11112787
REFERENCE   7  (bases 1 to 495)
  AUTHORS   Loeffen,J., Smeets,R., Smeitink,J., Triepels,R., Sengers,R.,
            Trijbels,F. and van den Heuvel,L.
  TITLE     The human NADH: ubiquinone oxidoreductase NDUFS5 (15 kDa) subunit:
            cDNA cloning, chromosomal localization, tissue distribution and the
            absence of mutations in isolated complex I-deficient patients
  JOURNAL   J Inherit Metab Dis 22 (1), 19-28 (1999)
   PUBMED   10070614
REFERENCE   8  (bases 1 to 495)
  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 495)
  AUTHORS   Mao,M., Fu,G., Wu,J.S., Zhang,Q.H., Zhou,J., Kan,L.X., Huang,Q.H.,
            He,K.L., Gu,B.W., Han,Z.G., Shen,Y., Gu,J., Yu,Y.P., Xu,S.H.,
            Wang,Y.X., Chen,S.J. and Chen,Z.
  TITLE     Identification of genes expressed in human CD34(+) hematopoietic
            stem/progenitor cells by expressed sequence tags and efficient
            full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 95 (14), 8175-8180 (1998)
   PUBMED   9653160
REFERENCE   10 (bases 1 to 495)
  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 AL606465.21, BC093057.1 and
            AI244607.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_004552.2.
            
            Summary: This gene is a member of the NADH dehydrogenase
            (ubiquinone) iron-sulfur protein family. The encoded protein is a
            subunit of the NADH:ubiquinone oxidoreductase (complex I), the
            first enzyme complex in the electron transport chain located in the
            inner mitochondrial membrane. Alternative splicing results in
            multiple transcript variants and pseudogenes have been identified
            on chromosomes 1, 4 and 17. [provided by RefSeq, May 2010].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Both variants 1 and 2 encode the same protein.
            
            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 :: AF047434.1, SRR1163658.204720.1
                                           [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                 :: ENST00000372969.8/
                                                  ENSP00000362060.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-5                 AL606465.21        70838-70842
            6-493               BC093057.1         1-488
            494-495             AI244607.1         35-36               c
FEATURES             Location/Qualifiers
     source          1..495
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.3"
     gene            1..495
                     /gene="NDUFS5"
                     /gene_synonym="CI-15k; CI15K"
                     /note="NADH:ubiquinone oxidoreductase subunit S5"
                     /db_xref="GeneID:4725"
                     /db_xref="HGNC:HGNC:7712"
                     /db_xref="MIM:603847"
     exon            1..53
                     /gene="NDUFS5"
                     /gene_synonym="CI-15k; CI15K"
                     /inference="alignment:Splign:2.1.0"
     exon            54..271
                     /gene="NDUFS5"
                     /gene_synonym="CI-15k; CI15K"
                     /inference="alignment:Splign:2.1.0"
     CDS             56..376
                     /gene="NDUFS5"
                     /gene_synonym="CI-15k; CI15K"
                     /EC_number="7.1.1.2"
                     /note="CI-15 kDa; NADH:ubiquinone oxidoreductase 15 kDa IP
                     subunit; complex I-15 kDa; NADH dehydrogenase (ubiquinone)
                     Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase)"
                     /codon_start=1
                     /product="NADH dehydrogenase [ubiquinone] iron-sulfur
                     protein 5"
                     /protein_id="NP_004543.1"
                     /db_xref="CCDS:CCDS434.1"
                     /db_xref="GeneID:4725"
                     /db_xref="HGNC:HGNC:7712"
                     /db_xref="MIM:603847"
                     /translation="MPFLDIQKRFGLNIDRWLTIQSGEQPYKMAGRCHAFEKEWIECA
                     HGIGYTRAEKECKIEYDDFVECLLRQKTMRRAGTIRKQRDKLIKEGKYTPPPHHIGKG
                     EPRP"
     exon            272..495
                     /gene="NDUFS5"
                     /gene_synonym="CI-15k; CI15K"
                     /inference="alignment:Splign:2.1.0"
     regulatory      474..479
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFS5"
                     /gene_synonym="CI-15k; CI15K"
                     /note="hexamer: AATAAA"
     polyA_site      495
                     /gene="NDUFS5"
                     /gene_synonym="CI-15k; CI15K"
                     /note="major polyA site"
ORIGIN      
        1 agtcgttctg aagcggcggc cagagaagag tcaagggcac gagcatcggg tagccatgcc
       61 tttcttggac atccagaaaa ggttcggcct taacatagat cgatggttga caatccagag
      121 tggtgaacag ccctacaaga tggctggtcg atgccatgct tttgaaaaag aatggataga
      181 atgtgcacat ggaatcggtt atactcgggc agagaaagag tgcaagatag aatatgatga
      241 tttcgtagag tgtttgcttc ggcagaaaac gatgagacgt gcaggtacca tcaggaagca
      301 gcgggataag ctgataaagg aaggaaagta cacccctcca cctcaccaca ttggcaaggg
      361 ggagcctcgg ccctgaacag agcagctgct gatgtctgga ggctgatttt cctgttctct
      421 gttctccact ggaaaggttg tttacgacaa acctccttgt caaagtgtgt aaaaataaag
      481 gattgctcca tccta
//
