LOCUS       NM_004549               2168 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens NADH:ubiquinone oxidoreductase subunit C2 (NDUFC2),
            transcript variant 1, mRNA.
ACCESSION   NM_004549
VERSION     NM_004549.6
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 2168)
  AUTHORS   Chen,J., Liu,X., Bi,R., Liu,P. and Gong,W.
  TITLE     NDUFC2 deficiency exacerbates endothelial mesenchymal
            transformation during ischemia-reperfusion via NLRP3
  JOURNAL   Neuroreport 34 (13), 670-676 (2023)
   PUBMED   37506315
  REMARK    GeneRIF: NDUFC2 deficiency exacerbates endothelial mesenchymal
            transformation during ischemia-reperfusion via NLRP3.
REFERENCE   2  (bases 1 to 2168)
  AUTHORS   Gallo,G., Forte,M., Cotugno,M., Marchitti,S., Stanzione,R.,
            Tocci,G., Bianchi,F., Palmerio,S., Scioli,M., Frati,G.,
            Sciarretta,S., Barbato,E., Volpe,M. and Rubattu,S.
  TITLE     Polymorphic variants at NDUFC2, encoding a mitochondrial complex I
            subunit, associate with cardiac hypertrophy in human hypertension
  JOURNAL   Mol Med 29 (1), 107 (2023)
   PUBMED   37558995
  REMARK    GeneRIF: Polymorphic variants at NDUFC2, encoding a mitochondrial
            complex I subunit, associate with cardiac hypertrophy in human
            hypertension.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2168)
  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 2168)
  AUTHORS   Carroll,J., He,J., Ding,S., Fearnley,I.M. and Walker,J.E.
  TITLE     TMEM70 and TMEM242 help to assemble the rotor ring of human ATP
            synthase and interact with assembly factors for complex I
  JOURNAL   Proc Natl Acad Sci U S A 118 (13) (2021)
   PUBMED   33753518
REFERENCE   5  (bases 1 to 2168)
  AUTHORS   Alahmad,A., Nasca,A., Heidler,J., Thompson,K., Olahova,M.,
            Legati,A., Lamantea,E., Meisterknecht,J., Spagnolo,M., He,L.,
            Alameer,S., Hakami,F., Almehdar,A., Ardissone,A., Alston,C.L.,
            McFarland,R., Wittig,I., Ghezzi,D. and Taylor,R.W.
  TITLE     Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh
            syndrome and stalled biogenesis of complex I
  JOURNAL   EMBO Mol Med 12 (11), e12619 (2020)
   PUBMED   32969598
  REMARK    GeneRIF: Bi-allelic pathogenic variants in NDUFC2 cause early-onset
            Leigh syndrome and stalled biogenesis of complex I.
REFERENCE   6  (bases 1 to 2168)
  AUTHORS   Igci,Y.Z., Arslan,A., Akarsu,E., Erkilic,S., Igci,M., Oztuzcu,S.,
            Cengiz,B., Gogebakan,B., Cakmak,E.A. and Demiryurek,A.T.
  TITLE     Differential expression of a set of genes in follicular and classic
            variants of papillary thyroid carcinoma
  JOURNAL   Endocr Pathol 22 (2), 86-96 (2011)
   PUBMED   21509594
  REMARK    GeneRIF: NDUFC2 gene expression is decreased in both classic and
            follicular variants of papillary thyroid carcinoma.
REFERENCE   7  (bases 1 to 2168)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 2168)
  AUTHORS   Wang,L., McDonnell,S.K., Hebbring,S.J., Cunningham,J.M., St
            Sauver,J., Cerhan,J.R., Isaya,G., Schaid,D.J. and Thibodeau,S.N.
  TITLE     Polymorphisms in mitochondrial genes and prostate cancer risk
  JOURNAL   Cancer Epidemiol Biomarkers Prev 17 (12), 3558-3566 (2008)
   PUBMED   19064571
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 2168)
  AUTHORS   Murray,J., Zhang,B., Taylor,S.W., Oglesbee,D., Fahy,E.,
            Marusich,M.F., Ghosh,S.S. and Capaldi,R.A.
  TITLE     The subunit composition of the human NADH dehydrogenase obtained by
            rapid one-step immunopurification
  JOURNAL   J Biol Chem 278 (16), 13619-13622 (2003)
   PUBMED   12611891
REFERENCE   10 (bases 1 to 2168)
  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
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AF087899.1, AP003032.2, AK022785.1 and CA414824.1.
            
            On Nov 23, 2018 this sequence version replaced NM_004549.5.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR3476690.1077713.1,
                                           SRR1803612.182535.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000281031.5/
                                                  ENSP00000281031.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-45                AF087899.1         359-403
            46-68               AP003032.2         87453-87475         c
            69-253              AK022785.1         1-185
            254-256             AP003032.2         87265-87267         c
            257-609             AK022785.1         189-541
            610-1923            AP003032.2         76200-77513         c
            1924-2118           CA414824.1         17-211              c
            2119-2168           AP003032.2         75955-76004         c
FEATURES             Location/Qualifiers
     source          1..2168
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q14.1"
     gene            1..2168
                     /gene="NDUFC2"
                     /gene_synonym="B14.5b; CI-B14.5b; HLC-1; MC1DN36; NADHDH2"
                     /note="NADH:ubiquinone oxidoreductase subunit C2"
                     /db_xref="GeneID:4718"
                     /db_xref="HGNC:HGNC:7706"
                     /db_xref="MIM:603845"
     exon            1..284
                     /gene="NDUFC2"
                     /gene_synonym="B14.5b; CI-B14.5b; HLC-1; MC1DN36; NADHDH2"
                     /inference="alignment:Splign:2.1.0"
     CDS             119..478
                     /gene="NDUFC2"
                     /gene_synonym="B14.5b; CI-B14.5b; HLC-1; MC1DN36; NADHDH2"
                     /EC_number="7.1.1.2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     complex I subunit B14.5b; NADH dehydrogenase [ubiquinone]
                     1 subunit C2; complex I-B14.5b; human lung cancer oncogene
                     1 protein; NADH-ubiquinone oxidoreductase subunit B14.5b;
                     NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2,
                     14.5kDa"
                     /codon_start=1
                     /product="NADH dehydrogenase [ubiquinone] 1 subunit C2
                     isoform 1"
                     /protein_id="NP_004540.1"
                     /db_xref="CCDS:CCDS8257.1"
                     /db_xref="GeneID:4718"
                     /db_xref="HGNC:HGNC:7706"
                     /db_xref="MIM:603845"
                     /translation="MIARRNPEPLRFLPDEARSLPPPKLTDPRLLYIGFLGYCSGLID
                     NLIRRRPIATAGLHRQLLYITAFFFAGYYLVKREDYLYAVRDREMFGYMKLHPEDFPE
                     EDKKTYGEIFEKFHPIR"
     exon            285..428
                     /gene="NDUFC2"
                     /gene_synonym="B14.5b; CI-B14.5b; HLC-1; MC1DN36; NADHDH2"
                     /inference="alignment:Splign:2.1.0"
     exon            429..2168
                     /gene="NDUFC2"
                     /gene_synonym="B14.5b; CI-B14.5b; HLC-1; MC1DN36; NADHDH2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      592..597
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFC2"
                     /gene_synonym="B14.5b; CI-B14.5b; HLC-1; MC1DN36; NADHDH2"
                     /note="hexamer: ATTAAA"
     polyA_site      610
                     /gene="NDUFC2"
                     /gene_synonym="B14.5b; CI-B14.5b; HLC-1; MC1DN36; NADHDH2"
                     /note="major polyA site"
     regulatory      752..757
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFC2"
                     /gene_synonym="B14.5b; CI-B14.5b; HLC-1; MC1DN36; NADHDH2"
                     /note="hexamer: AATAAA"
     polyA_site      773
                     /gene="NDUFC2"
                     /gene_synonym="B14.5b; CI-B14.5b; HLC-1; MC1DN36; NADHDH2"
     regulatory      2098..2103
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFC2"
                     /gene_synonym="B14.5b; CI-B14.5b; HLC-1; MC1DN36; NADHDH2"
                     /note="hexamer: AATAAA"
     polyA_site      2118
                     /gene="NDUFC2"
                     /gene_synonym="B14.5b; CI-B14.5b; HLC-1; MC1DN36; NADHDH2"
     regulatory      2145..2150
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFC2"
                     /gene_synonym="B14.5b; CI-B14.5b; HLC-1; MC1DN36; NADHDH2"
                     /note="hexamer: AATAAA"
     polyA_site      2168
                     /gene="NDUFC2"
                     /gene_synonym="B14.5b; CI-B14.5b; HLC-1; MC1DN36; NADHDH2"
ORIGIN      
        1 gagtccggcg cgcagaggag gaggagaaag ctgaccgctt aggccggggt agtggtcgtc
       61 gtggttttcc ttgtagttcg tggtctgaga ccaggcctca agtggaaacg gcgtcaccat
      121 gatcgcacgg cggaacccag aacccttacg gtttctgccg gatgaggccc ggagcctgcc
      181 cccgcccaag ctgaccgacc cgcggctcct ctacatcggc ttcttgggct actgctccgg
      241 cctgattgat aacctaatcc ggcggaggcc gatcgcgacg gctggtttgc atcgccagct
      301 tctatatatt acggcctttt tttttgctgg atattatctt gtaaaacgtg aagactacct
      361 gtatgctgtg agggaccgtg aaatgtttgg atatatgaaa ttacatccag aggattttcc
      421 tgaagaagat aagaaaacat atggtgaaat ttttgaaaaa ttccatccaa tacgttgaag
      481 tcttcaaaat gcttgctcca gtttcactga tacctgctgt ttctgaattt gatggaacat
      541 gtttcttatg acagttgaag cttatgctaa tctgtatgtt gacaccttgt aattaaaata
      601 cgtaccatga gtactctgac tctttattgt tgtaagaaaa atagttcatc atcagagaat
      661 ggtcagtttc cattcaccca tctgaaagat tttaagatga ggttgaattc tagtttagag
      721 ttagcagact acccaaatct ggcccactgc caataaagtc tcattggaac acagccatgc
      781 tcatttgttt acatgttgtt tatggcgact gccatgctgc aagagcagaa ttgagtagtt
      841 gtgatagaga cctatggcct gcaaagccta attaatatgt agccctttca gaaaaggttt
      901 gcctgcccct gtcctagtgc aaagtgaatt tagagtgagc cagattatgg aggattctgt
      961 gactcttgcc aaataatttt gacttcatcc tgtaggtatt aagtcattaa ggcgttttaa
     1021 atcatacagt caggtttgta tttctgagct gtctataatg aatgatatag aaggtggttt
     1081 cgaaggagga gactccagac aaggaaaaca gaaatcttat gttgccaagt tgtctttgct
     1141 cttaggtggg ttatcctgga gaaaatggac tcaggagcta atactgtcta cagtggagct
     1201 tggtgcaatt agaagcaaaa gactgtacct aactggaatg aggttacttt ttatggctta
     1261 tcaaatgctt gtcctggccc gatgcagtgg ctcatgcctg taatcccagc actttgagag
     1321 gctgaggcag ggcagattgc atgagcccag gagttcgaga ccaacttggg caacatggtg
     1381 aaacactgtc tctacataaa atacaaaaat tagctgggcg tggtggcacg ttcctgcaat
     1441 cccagctact cataaggctg aggtgggagg atctattgag ccctggaatt cgaggatgca
     1501 attaattgtg gttgtgtcac agttcactgc agcctgggtg acactccagc ctgggtgaca
     1561 aaggagaccc cgtcaaaaaa aaaagtactt gtcccaaaag tttttgtttc ctagcttaga
     1621 atttataatc agattaggtt ttggagataa agtatatgtg gtattttttt tttttttttt
     1681 gagacgacag tcttgctctg tcatcaggct ggagtgcagt ggcgcaattt cggctcactg
     1741 caacctccac ctcctgggtt caagcaattc tcctgcctca gcctcccgag tagctgggac
     1801 tacaggtgca tgccacgacg cccagctgat ttttgtgttt ttagtagaga cggggtttca
     1861 ccatgttggc caagatggtc tcaatctctt gaccttgtga tccacctgcc ttggccttcc
     1921 aaagtgttgg aattacaggc gtgagccacc gcgcctggtc tatatgtgat ttcaaattag
     1981 gtggccttat aaatataagc agatggtttc tgggcaaaat caaatgattt ctgtctctat
     2041 tttcttgagt accaattgta aaaactgaaa ttaggttgag gaaagtgctt tagaaataat
     2101 aaagatgtac aaatacaagg ctttggattt tttattagtt ctgcaataaa taataggttt
     2161 atagttca
//
