LOCUS       NM_021074                857 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens NADH:ubiquinone oxidoreductase core subunit V2
            (NDUFV2), mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_021074
VERSION     NM_021074.5
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 857)
  AUTHORS   Wang,Z., Chen,L., Li,Q., Zhang,H., Shan,Y., Qi,L., Wang,H. and
            Chen,Y.
  TITLE     Association between single-nucleotide polymorphism rs145497186
            related to NDUFV2 and lumbar disc degeneration: a pilot
            case-control study
  JOURNAL   J Orthop Surg Res 17 (1), 473 (2022)
   PUBMED   36309697
  REMARK    GeneRIF: Association between single-nucleotide polymorphism
            rs145497186 related to NDUFV2 and lumbar disc degeneration: a pilot
            case-control study.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 857)
  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 857)
  AUTHORS   Chella Krishnan,K., Vergnes,L., Acin-Perez,R., Stiles,L., Shum,M.,
            Ma,L., Mouisel,E., Pan,C., Moore,T.M., Peterfy,M., Romanoski,C.E.,
            Reue,K., Bjorkegren,J.L.M., Laakso,M., Liesa,M. and Lusis,A.J.
  TITLE     Sex-specific genetic regulation of adipose mitochondria and
            metabolic syndrome by Ndufv2
  JOURNAL   Nat Metab 3 (11), 1552-1568 (2021)
   PUBMED   34697471
  REMARK    GeneRIF: Sex-specific genetic regulation of adipose mitochondria
            and metabolic syndrome by Ndufv2.
REFERENCE   4  (bases 1 to 857)
  AUTHORS   Kishita,Y., Shimura,M., Kohda,M., Fushimi,T., Nitta,K.R.,
            Yatsuka,Y., Hirose,S., Ideguchi,H., Ohtake,A., Murayama,K. and
            Okazaki,Y.
  TITLE     Genome sequencing and RNA-seq analyses of mitochondrial complex I
            deficiency revealed Alu insertion-mediated deletion in NDUFV2
  JOURNAL   Hum Mutat 42 (11), 1422-1428 (2021)
   PUBMED   34405929
  REMARK    GeneRIF: Genome sequencing and RNA-seq analyses of mitochondrial
            complex I deficiency revealed Alu insertion-mediated deletion in
            NDUFV2.
REFERENCE   5  (bases 1 to 857)
  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   6  (bases 1 to 857)
  AUTHORS   Hattori,N., Yoshino,H., Tanaka,M., Suzuki,H. and Mizuno,Y.
  TITLE     Genotype in the 24-kDa subunit gene (NDUFV2) of mitochondrial
            complex I and susceptibility to Parkinson disease
  JOURNAL   Genomics 49 (1), 52-58 (1998)
   PUBMED   9570948
REFERENCE   7  (bases 1 to 857)
  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
REFERENCE   8  (bases 1 to 857)
  AUTHORS   Hattori,N., Suzuki,H., Wang,Y., Minoshima,S., Shimizu,N.,
            Yoshino,H., Kurashima,R., Tanaka,M., Ozawa,T. and Mizuno,Y.
  TITLE     Structural organization and chromosomal localization of the human
            nuclear gene (NDUFV2) for the 24-kDa iron-sulfur subunit of complex
            I in mitochondrial respiratory chain
  JOURNAL   Biochem Biophys Res Commun 216 (3), 771-777 (1995)
   PUBMED   7488192
REFERENCE   9  (bases 1 to 857)
  AUTHORS   de Coo,R., Buddiger,P., Smeets,H., Geurts van Kessel,A.,
            Morgan-Hughes,J., Weghuis,D.O., Overhauser,J. and van Oost,B.
  TITLE     Molecular cloning and characterization of the active human
            mitochondrial NADH:ubiquinone oxidoreductase 24-kDa gene (NDUFV2)
            and its pseudogene
  JOURNAL   Genomics 26 (3), 461-466 (1995)
   PUBMED   7607668
REFERENCE   10 (bases 1 to 857)
  AUTHORS   Pilkington,S.J. and Walker,J.E.
  TITLE     Mitochondrial NADH-ubiquinone reductase: complementary DNA
            sequences of import precursors of the bovine and human 24-kDa
            subunit
  JOURNAL   Biochemistry 28 (8), 3257-3264 (1989)
   PUBMED   2500970
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG742948.1 and BC001632.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_021074.4.
            
            Summary: The NADH-ubiquinone oxidoreductase complex (complex I) of
            the mitochondrial respiratory chain catalyzes the transfer of
            electrons from NADH to ubiquinone, and consists of at least 43
            subunits. The complex is located in the inner mitochondrial
            membrane. This gene encodes the 24 kDa subunit of complex I, and is
            involved in electron transfer. Mutations in this gene are
            implicated in Parkinson's disease, bipolar disorder, schizophrenia,
            and have been found in one case of early onset hypertrophic
            cardiomyopathy and encephalopathy. A non-transcribed pseudogene of
            this locus is found on chromosome 19. [provided by RefSeq, Oct
            2009].
            
            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 :: SRR5189655.159529.1,
                                           SRR5189655.161325.1 [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                 :: ENST00000318388.11/
                                                  ENSP00000327268.6
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-21                BG742948.1         70-90
            22-857              BC001632.1         1-836
FEATURES             Location/Qualifiers
     source          1..857
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18p11.22"
     gene            1..857
                     /gene="NDUFV2"
                     /gene_synonym="CI-24k; MC1DN7"
                     /note="NADH:ubiquinone oxidoreductase core subunit V2"
                     /db_xref="GeneID:4729"
                     /db_xref="HGNC:HGNC:7717"
                     /db_xref="MIM:600532"
     exon            1..99
                     /gene="NDUFV2"
                     /gene_synonym="CI-24k; MC1DN7"
                     /inference="alignment:Splign:2.1.0"
     CDS             46..795
                     /gene="NDUFV2"
                     /gene_synonym="CI-24k; MC1DN7"
                     /EC_number="7.1.1.2"
                     /note="complex I 24kDa subunit; NADH-ubiquinone
                     oxidoreductase flavoprotein 2; NADH dehydrogenase
                     ubiquinone flavoprotein 2, mitochondrial; complex I,
                     mitochondrial respitory chain, 24 kD subunit; NADH
                     dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial;
                     nuclear-encoded mitochondrial NADH-ubiquinone reductase
                     24Kd subunit; NADH-ubiquinone oxidoreductase 24 kDa
                     subunit; NADH dehydrogenase (ubiquinone) flavoprotein 2,
                     24kDa"
                     /codon_start=1
                     /product="NADH dehydrogenase [ubiquinone] flavoprotein 2,
                     mitochondrial precursor"
                     /protein_id="NP_066552.2"
                     /db_xref="CCDS:CCDS11842.1"
                     /db_xref="GeneID:4729"
                     /db_xref="HGNC:HGNC:7717"
                     /db_xref="MIM:600532"
                     /translation="MFFSAALRARAAGLTAHWGRHVRNLHKTVMQNGAGGALFVHRDT
                     PENNPDTPFDFTPENYKRIEAIVKNYPEGHKAAAVLPVLDLAQRQNGWLPISAMNKVA
                     EVLQVPPMRVYEVATFYTMYNRKPVGKYHIQVCTTTPCMLRNSDSILEAIQKKLGIKV
                     GETTPDKLFTLIEVECLGACVNAPMVQINDNYYEDLTAKDIEEIIDELKAGKIPKPGP
                     RSGRFSCEPAGGLTSLTEPPKGPGFGVQAGL"
     exon            100..165
                     /gene="NDUFV2"
                     /gene_synonym="CI-24k; MC1DN7"
                     /inference="alignment:Splign:2.1.0"
     exon            166..228
                     /gene="NDUFV2"
                     /gene_synonym="CI-24k; MC1DN7"
                     /inference="alignment:Splign:2.1.0"
     exon            229..345
                     /gene="NDUFV2"
                     /gene_synonym="CI-24k; MC1DN7"
                     /inference="alignment:Splign:2.1.0"
     exon            346..514
                     /gene="NDUFV2"
                     /gene_synonym="CI-24k; MC1DN7"
                     /inference="alignment:Splign:2.1.0"
     exon            515..624
                     /gene="NDUFV2"
                     /gene_synonym="CI-24k; MC1DN7"
                     /inference="alignment:Splign:2.1.0"
     exon            625..701
                     /gene="NDUFV2"
                     /gene_synonym="CI-24k; MC1DN7"
                     /inference="alignment:Splign:2.1.0"
     exon            702..857
                     /gene="NDUFV2"
                     /gene_synonym="CI-24k; MC1DN7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      828..833
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFV2"
                     /gene_synonym="CI-24k; MC1DN7"
                     /note="hexamer: AATAAA"
     polyA_site      857
                     /gene="NDUFV2"
                     /gene_synonym="CI-24k; MC1DN7"
                     /note="major polyA site"
ORIGIN      
        1 attctcgcct ggcgcggctg gggaaggtga acagtgtggc ccgccatgtt cttctccgcg
       61 gcgctccggg cccgggcggc tggcctcacc gcccactggg gaagacatgt aaggaatttg
      121 cataagacag ttatgcaaaa tggagctgga ggagctttat ttgtgcacag agatactcct
      181 gagaataacc ctgatactcc atttgatttc acaccagaaa actataagag gatagaggca
      241 attgtaaaaa actatccaga aggccataaa gcagcagctg ttcttccagt cctggattta
      301 gcccaaaggc agaatgggtg gttgcccatc tctgctatga acaaggttgc agaagtttta
      361 caagtacctc caatgagagt atatgaagta gcaacttttt atacaatgta taatcgaaag
      421 ccagttggaa agtatcacat tcaggtctgc actactacac cctgcatgct tcgaaactct
      481 gacagcatac tggaggccat tcagaaaaag cttggaataa aggttgggga gactacacct
      541 gacaaacttt tcactcttat agaagtggaa tgtttagggg cctgtgtgaa cgcaccaatg
      601 gttcaaataa atgacaatta ctatgaggat ttgacagcta aggatattga agaaattatt
      661 gatgagctca aggctggcaa aatcccaaaa ccagggccaa ggagtggacg cttctcttgt
      721 gagccagctg gaggtcttac ctctttgact gaaccaccca agggacctgg atttggtgta
      781 caagcaggcc tttaatttat attgaactgt aaatatgtca ctagagaaat aaaatatgga
      841 cttccaatct acgtaaa
//
