LOCUS       NM_007103               1560 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens NADH:ubiquinone oxidoreductase core subunit V1
            (NDUFV1), transcript variant 1, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_007103
VERSION     NM_007103.4
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 1560)
  AUTHORS   Tang,X., Xu,W., Song,X., Ye,H., Ren,X., Yang,Y., Zhang,H., Wu,S.
            and Lan,X.
  TITLE     Compound heterozygous mutations of NDUFV1 identified in a child
            with mitochondrial complex I deficiency
  JOURNAL   Genes Genomics 44 (6), 691-698 (2022)
   PUBMED   35482246
  REMARK    GeneRIF: Compound heterozygous mutations of NDUFV1 identified in a
            child with mitochondrial complex I deficiency.
REFERENCE   2  (bases 1 to 1560)
  AUTHORS   Xue,W., Li,X., Li,W., Wang,Y., Jiang,C., Zhou,L., Gao,J., Yu,Y.,
            Shen,Y. and Xu,Q.
  TITLE     Intracellular CYTL1, a novel tumor suppressor, stabilizes NDUFV1 to
            inhibit metabolic reprogramming in breast cancer
  JOURNAL   Signal Transduct Target Ther 7 (1), 35 (2022)
   PUBMED   35115484
  REMARK    GeneRIF: Intracellular CYTL1, a novel tumor suppressor, stabilizes
            NDUFV1 to inhibit metabolic reprogramming in breast cancer.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1560)
  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   4  (bases 1 to 1560)
  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   5  (bases 1 to 1560)
  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   6  (bases 1 to 1560)
  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   7  (bases 1 to 1560)
  AUTHORS   Schuelke,M., Loeffen,J., Mariman,E., Smeitink,J. and van den
            Heuvel,L.
  TITLE     Cloning of the human mitochondrial 51 kDa subunit (NDUFV1) reveals
            a 100% antisense homology of its 3'UTR with the 5'UTR of the
            gamma-interferon inducible protein (IP-30) precursor: is this a
            link between mitochondrial myopathy and inflammation?
  JOURNAL   Biochem Biophys Res Commun 245 (2), 599-606 (1998)
   PUBMED   9571201
REFERENCE   8  (bases 1 to 1560)
  AUTHORS   Ali,S.T., Duncan,A.M., Schappert,K., Heng,H.H., Tsui,L.C., Chow,W.
            and Robinson,B.H.
  TITLE     Chromosomal localization of the human gene encoding the 51-kDa
            subunit of mitochondrial complex I (NDUFV1) to 11q13
  JOURNAL   Genomics 18 (2), 435-439 (1993)
   PUBMED   8288251
REFERENCE   9  (bases 1 to 1560)
  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 1560)
  AUTHORS   Spencer,S.R., Taylor,J.B., Cowell,I.G., Xia,C.L., Pemble,S.E. and
            Ketterer,B.
  TITLE     The human mitochondrial NADH: ubiquinone oxidoreductase 51-kDa
            subunit maps adjacent to the glutathione S-transferase P1-1 gene on
            chromosome 11q13
  JOURNAL   Genomics 14 (4), 1116-1118 (1992)
   PUBMED   1478657
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF053070.1, DB532599.1 and
            AP003385.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_007103.3.
            
            Summary: The mitochondrial respiratory chain provides energy to
            cells via oxidative phosphorylation and consists of four
            membrane-bound electron-transporting protein complexes (I-IV) and
            an ATP synthase (complex V). This gene encodes a 51 kDa subunit of
            the NADH:ubiquinone oxidoreductase complex I; a large complex with
            at least 45 nuclear and mitochondrial encoded subunits that
            liberates electrons from NADH and channels them to ubiquinone. This
            subunit carries the NADH-binding site as well as flavin
            mononucleotide (FMN)- and Fe-S-biding sites. Defects in complex I
            are a common cause of mitochondrial dysfunction; a syndrome that
            occurs in approximately 1 in 10,000 live births. Mitochondrial
            complex I deficiency is linked to myopathies, encephalomyopathies,
            and neurodegenerative disorders such as Parkinson's disease and
            Leigh syndrome. Alternative splicing results in multiple transcript
            variants encoding distinct isoforms.[provided by RefSeq, Oct 2009].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer protein (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 :: AF053070.1, SRR1660805.94772.1
                                           [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                 :: ENST00000322776.11/
                                                  ENSP00000322450.6
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1541              AF053070.1         1-1541
            1542-1547           DB532599.1         425-430
            1548-1560           AP003385.2         10936-10948
FEATURES             Location/Qualifiers
     source          1..1560
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.2"
     gene            1..1560
                     /gene="NDUFV1"
                     /gene_synonym="CI-51K; CI51KD; MC1DN4; UQOR1"
                     /note="NADH:ubiquinone oxidoreductase core subunit V1"
                     /db_xref="GeneID:4723"
                     /db_xref="HGNC:HGNC:7716"
                     /db_xref="MIM:161015"
     exon            1..141
                     /gene="NDUFV1"
                     /gene_synonym="CI-51K; CI51KD; MC1DN4; UQOR1"
                     /inference="alignment:Splign:2.1.0"
     CDS             70..1464
                     /gene="NDUFV1"
                     /gene_synonym="CI-51K; CI51KD; MC1DN4; UQOR1"
                     /EC_number="7.1.1.2"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; complex I 51kDa subunit; complex I,
                     mitochondrial respiratory chain; complex I 51 kda subunit;
                     mitochondrial NADH:ubiquinone oxidoreductase 51 kda
                     subunit; mitochondrial NADH dehydrogenase ubiquinone
                     flavoprotein 1; NADH-ubiquinone oxidoreductase 51 kDa
                     subunit; NADH dehydrogenase (ubiquinone) flavoprotein 1,
                     51kDa"
                     /codon_start=1
                     /product="NADH dehydrogenase [ubiquinone] flavoprotein 1,
                     mitochondrial isoform 1 precursor"
                     /protein_id="NP_009034.2"
                     /db_xref="CCDS:CCDS8173.1"
                     /db_xref="GeneID:4723"
                     /db_xref="HGNC:HGNC:7716"
                     /db_xref="MIM:161015"
                     /translation="MLATRRLLGWSLPARVSVRFSGDTTAPKKTSFGSLKDEDRIFTN
                     LYGRHDWRLKGSLSRGDWYKTKEILLKGPDWILGEIKTSGLRGRGGAGFPTGLKWSFM
                     NKPSDGRPKYLVVNADEGEPGTCKDREILRHDPHKLLEGCLVGGRAMGARAAYIYIRG
                     EFYNEASNLQVAIREAYEAGLIGKNACGSGYDFDVFVVRGAGAYICGEETALIESIEG
                     KQGKPRLKPPFPADVGVFGCPTTVANVETVAVSPTICRRGGTWFAGFGRERNSGTKLF
                     NISGHVNHPCTVEEEMSVPLKELIEKHAGGVTGGWDNLLAVIPGGSSTPLIPKSVCET
                     VLMDFDALVQAQTGLGTAAVIVMDRSTDIVKAIARLIEFYKHESCGQCTPCREGVDWM
                     NKVMARFVRGDARPAEIDSLWEISKQIEGHTICALGDGAAWPVQGLIRHFRPELEERM
                     QRFAQQHQARQAAS"
     exon            142..224
                     /gene="NDUFV1"
                     /gene_synonym="CI-51K; CI51KD; MC1DN4; UQOR1"
                     /inference="alignment:Splign:2.1.0"
     exon            225..395
                     /gene="NDUFV1"
                     /gene_synonym="CI-51K; CI51KD; MC1DN4; UQOR1"
                     /inference="alignment:Splign:2.1.0"
     exon            396..579
                     /gene="NDUFV1"
                     /gene_synonym="CI-51K; CI51KD; MC1DN4; UQOR1"
                     /inference="alignment:Splign:2.1.0"
     exon            580..769
                     /gene="NDUFV1"
                     /gene_synonym="CI-51K; CI51KD; MC1DN4; UQOR1"
                     /inference="alignment:Splign:2.1.0"
     exon            770..982
                     /gene="NDUFV1"
                     /gene_synonym="CI-51K; CI51KD; MC1DN4; UQOR1"
                     /inference="alignment:Splign:2.1.0"
     exon            983..1149
                     /gene="NDUFV1"
                     /gene_synonym="CI-51K; CI51KD; MC1DN4; UQOR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1150..1231
                     /gene="NDUFV1"
                     /gene_synonym="CI-51K; CI51KD; MC1DN4; UQOR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1232..1377
                     /gene="NDUFV1"
                     /gene_synonym="CI-51K; CI51KD; MC1DN4; UQOR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1378..1560
                     /gene="NDUFV1"
                     /gene_synonym="CI-51K; CI51KD; MC1DN4; UQOR1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1515..1520
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFV1"
                     /gene_synonym="CI-51K; CI51KD; MC1DN4; UQOR1"
                     /note="hexamer: AATAAA"
     polyA_site      1541
                     /gene="NDUFV1"
                     /gene_synonym="CI-51K; CI51KD; MC1DN4; UQOR1"
                     /note="major polyA site"
ORIGIN      
        1 atcgcgccag ttcctcagcc tcagtgctat gaaggtgaca gcgtgaggtg acccatctgg
       61 cccgccgcga tgctggcaac acggcggctg ctcggctggt cgcttcccgc gcgggtatct
      121 gtgcgtttca gcggcgacac gacagcaccc aagaaaacct catttggctc gctgaaggat
      181 gaagaccgga ttttcaccaa cctgtacggc cgccatgact ggaggctgaa aggttccctg
      241 agtcgaggtg actggtacaa gacaaaggag atcctgctga aggggcccga ctggatcctg
      301 ggcgagatca agacatcggg tttgaggggc cgtggaggcg ctggcttccc cactggcctc
      361 aagtggagct tcatgaataa gccctcagat ggcaggccca agtatctggt ggtgaacgca
      421 gacgaggggg agccgggcac ctgcaaggac cgggagatct tacgccatga tcctcacaag
      481 ctgctggaag gctgcctggt ggggggccgg gccatgggcg cccgcgctgc ctatatctac
      541 atccgagggg aattctacaa tgaggcctcc aatctgcagg tggccatccg agaggcctat
      601 gaggcaggtc tgattggcaa gaatgcttgt ggctctggct atgattttga cgtgtttgtg
      661 gtgcgcgggg ctggggccta catctgtgga gaggagacag cgctcatcga gtccattgag
      721 ggcaagcagg gcaagccccg cctgaagccc cccttccccg cagacgtggg agtgtttggc
      781 tgccccacaa ctgtggccaa cgtggagaca gtggcagtgt cccccacaat ctgccgccgt
      841 ggaggtacct ggtttgctgg ctttggcaga gaacgcaact caggcaccaa actattcaac
      901 atctctggcc atgtcaacca cccttgcact gtggaggagg agatgtctgt gcccttgaaa
      961 gaactgattg agaagcatgc tgggggtgtc acgggcggct gggacaacct ccttgctgtg
     1021 atccctggcg gctcgtctac cccactgatc cccaagtctg tgtgtgagac ggtgctgatg
     1081 gacttcgatg cgctggtgca ggcacagaca ggcctgggca cagctgcggt gatcgtcatg
     1141 gaccgctcga cggacatcgt gaaagccatc gcccgcctca ttgagttcta taagcacgag
     1201 agctgtggcc agtgtacccc atgccgtgag ggtgtggact ggatgaacaa ggtgatggca
     1261 cgtttcgtga ggggggatgc ccggccggcc gagatcgact ccctgtggga gatcagcaag
     1321 cagatagaag gccatacgat ttgtgctctg ggtgacgggg ccgcctggcc tgtgcagggt
     1381 ctgatccgcc actttcggcc ggagctcgag gagcggatgc agcggtttgc ccagcagcat
     1441 caggcccggc aggctgcctc ttagcccacc accctggcct gctgtcctgc gtctatccat
     1501 gtggaatgct ggacaataaa gcgagtgctg cccaccctcc agctgccgct gctgtgactg
//
