LOCUS       NM_003366               1914 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens ubiquinol-cytochrome c reductase core protein 2
            (UQCRC2), mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_003366
VERSION     NM_003366.4
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 1914)
  AUTHORS   Bansept,C., Gaignard,P., Lebigot,E., Eyer,D., Delplancq,G.,
            Hoebeke,C., Mazodier,K., Ledoyen,A., Rouzier,C., Fragaki,K.,
            Ait-El-Mkadem Saadi,S., Philippe,C., Bruel,A.L., Faivre,L.,
            Feillet,F. and Abi Warde,M.T.
  TITLE     UQCRC2-related mitochondrial complex III deficiency, about 7
            patients
  JOURNAL   Mitochondrion 68, 138-144 (2023)
   PUBMED   36509339
  REMARK    GeneRIF: UQCRC2-related mitochondrial complex III deficiency, about
            7 patients.
REFERENCE   2  (bases 1 to 1914)
  AUTHORS   Makarewich,C.A., Munir,A.Z., Bezprozvannaya,S., Gibson,A.M., Young
            Kim,S., Martin-Sandoval,M.S., Mathews,T.P., Szweda,L.I.,
            Bassel-Duby,R. and Olson,E.N.
  TITLE     The cardiac-enriched microprotein mitolamban regulates
            mitochondrial respiratory complex assembly and function in mice
  JOURNAL   Proc Natl Acad Sci U S A 119 (6) (2022)
   PUBMED   35101990
REFERENCE   3  (bases 1 to 1914)
  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 1914)
  AUTHORS   Wang,D., Su,F. and Feng,M.
  TITLE     Circular RNA hsa_circ_0000751 serves as a microRNA-488 sponge to
            suppress gastric cancer progression via ubiquinol-cytochrome c
            reductase core protein 2 regulation
  JOURNAL   Bioengineered 12 (1), 8793-8808 (2021)
   PUBMED   34565283
  REMARK    GeneRIF: Circular RNA hsa_circ_0000751 serves as a microRNA-488
            sponge to suppress gastric cancer progression via
            ubiquinol-cytochrome c reductase core protein 2 regulation.
REFERENCE   5  (bases 1 to 1914)
  AUTHORS   Burska,D., Stiburek,L., Krizova,J., Vanisova,M., Martinek,V.,
            Sladkova,J., Zamecnik,J., Honzik,T., Zeman,J., Hansikova,H. and
            Tesarova,M.
  TITLE     Homozygous missense mutation in UQCRC2 associated with severe
            encephalomyopathy, mitochondrial complex III assembly defect and
            activation of mitochondrial protein quality control
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1867 (8), 166147 (2021)
   PUBMED   33865955
  REMARK    GeneRIF: Homozygous missense mutation in UQCRC2 associated with
            severe encephalomyopathy, mitochondrial complex III assembly defect
            and activation of mitochondrial protein quality control.
REFERENCE   6  (bases 1 to 1914)
  AUTHORS   Wessels,H.J., Vogel,R.O., van den Heuvel,L., Smeitink,J.A.,
            Rodenburg,R.J., Nijtmans,L.G. and Farhoud,M.H.
  TITLE     LC-MS/MS as an alternative for SDS-PAGE in blue native analysis of
            protein complexes
  JOURNAL   Proteomics 9 (17), 4221-4228 (2009)
   PUBMED   19688755
REFERENCE   7  (bases 1 to 1914)
  AUTHORS   Hu,W.H., Hausmann,O.N., Yan,M.S., Walters,W.M., Wong,P.K. and
            Bethea,J.R.
  TITLE     Identification and characterization of a novel Nogo-interacting
            mitochondrial protein (NIMP)
  JOURNAL   J Neurochem 81 (1), 36-45 (2002)
   PUBMED   12067236
REFERENCE   8  (bases 1 to 1914)
  AUTHORS   Duncan,A.M., Ozawa,T., Suzuki,H. and Rozen,R.
  TITLE     Assignment of the gene for the core protein II (UQCRC2) subunit of
            the mitochondrial cytochrome bc1 complex to human chromosome 16p12
  JOURNAL   Genomics 18 (2), 455-456 (1993)
   PUBMED   8288258
REFERENCE   9  (bases 1 to 1914)
  AUTHORS   Hosokawa,Y., Suzuki,H., Toda,H., Nishikimi,M. and Ozawa,T.
  TITLE     The primary structure of the precursor to core protein II, a
            putative member of mitochondrial processing protease family, of rat
            mitochondrial cytochrome bc1 complex deduced from cDNA sequence
            analysis
  JOURNAL   Biochem Int 20 (4), 731-737 (1990)
   PUBMED   2162168
REFERENCE   10 (bases 1 to 1914)
  AUTHORS   Hosokawa,Y., Suzuki,H., Toda,H., Nishikimi,M. and Ozawa,T.
  TITLE     Complementary DNA encoding core protein II of human mitochondrial
            cytochrome bc1 complex. Substantial diversity in deduced primary
            structure from its yeast counterpart
  JOURNAL   J Biol Chem 264 (23), 13483-13488 (1989)
   PUBMED   2547763
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK094006.1 and BQ181225.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_003366.3.
            
            Summary: The protein encoded by this gene is located in the
            mitochondrion, where it is part of the ubiquinol-cytochrome c
            reductase complex (also known as complex III). This complex
            constitutes a part of the mitochondrial respiratory chain. Defects
            in this gene are a cause of mitochondrial complex III deficiency
            nuclear type 5. [provided by RefSeq, Jul 2015].
            
            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 :: SRR1803611.202247.1,
                                           SRR1803615.120769.1 [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                 :: ENST00000268379.9/
                                                  ENSP00000268379.4
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1606              AK094006.1         702-2307
            1607-1914           BQ181225.1         16-323              c
FEATURES             Location/Qualifiers
     source          1..1914
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.2"
     gene            1..1914
                     /gene="UQCRC2"
                     /gene_synonym="MC3DN5; QCR2; UQCR2"
                     /note="ubiquinol-cytochrome c reductase core protein 2"
                     /db_xref="GeneID:7385"
                     /db_xref="HGNC:HGNC:12586"
                     /db_xref="MIM:191329"
     exon            1..96
                     /gene="UQCRC2"
                     /gene_synonym="MC3DN5; QCR2; UQCR2"
                     /inference="alignment:Splign:2.1.0"
     CDS             64..1425
                     /gene="UQCRC2"
                     /gene_synonym="MC3DN5; QCR2; UQCR2"
                     /EC_number="7.1.1.8"
                     /note="cytochrome b-c1 complex subunit 2, mitochondrial;
                     complex III subunit 2; ubiquinol-cytochrome-c reductase
                     complex core protein 2; cytochrome bc-1 complex core
                     protein II; ubiquinol-cytochrome c reductase core protein
                     II"
                     /codon_start=1
                     /product="cytochrome b-c1 complex subunit 2, mitochondrial
                     precursor"
                     /protein_id="NP_003357.2"
                     /db_xref="CCDS:CCDS10601.1"
                     /db_xref="GeneID:7385"
                     /db_xref="HGNC:HGNC:12586"
                     /db_xref="MIM:191329"
                     /translation="MKLLTRAGSFSRFYSLKVAPKVKATAAPAGAPPQPQDLEFTKLP
                     NGLVIASLENYSPVSRIGLFIKAGSRYEDFSNLGTTHLLRLTSSLTTKGASSFKITRG
                     IEAVGGKLSVTATRENMAYTVECLRGDVDILMEFLLNVTTAPEFRRWEVADLQPQLKI
                     DKAVAFQNPQTHVIENLHAAAYRNALANPLYCPDYRIGKVTSEELHYFVQNHFTSARM
                     ALIGLGVSHPVLKQVAEQFLNMRGGLGLSGAKANYRGGEIREQNGDSLVHAAFVAESA
                     VAGSAEANAFSVLQHVLGAGPHVKRGSNTTSHLHQAVAKATQQPFDVSAFNASYSDSG
                     LFGIYTISQATAAGDVIKAAYNQVKTIAQGNLSNTDVQAAKNKLKAGYLMSVESSECF
                     LEEVGSQALVAGSYMPPSTVLQQIDSVANADIINAAKKFVSGQKSMAASGNLGHTPFV
                     DEL"
     exon            97..180
                     /gene="UQCRC2"
                     /gene_synonym="MC3DN5; QCR2; UQCR2"
                     /inference="alignment:Splign:2.1.0"
     exon            181..330
                     /gene="UQCRC2"
                     /gene_synonym="MC3DN5; QCR2; UQCR2"
                     /inference="alignment:Splign:2.1.0"
     exon            331..395
                     /gene="UQCRC2"
                     /gene_synonym="MC3DN5; QCR2; UQCR2"
                     /inference="alignment:Splign:2.1.0"
     exon            396..452
                     /gene="UQCRC2"
                     /gene_synonym="MC3DN5; QCR2; UQCR2"
                     /inference="alignment:Splign:2.1.0"
     exon            453..577
                     /gene="UQCRC2"
                     /gene_synonym="MC3DN5; QCR2; UQCR2"
                     /inference="alignment:Splign:2.1.0"
     exon            578..675
                     /gene="UQCRC2"
                     /gene_synonym="MC3DN5; QCR2; UQCR2"
                     /inference="alignment:Splign:2.1.0"
     exon            676..733
                     /gene="UQCRC2"
                     /gene_synonym="MC3DN5; QCR2; UQCR2"
                     /inference="alignment:Splign:2.1.0"
     exon            734..829
                     /gene="UQCRC2"
                     /gene_synonym="MC3DN5; QCR2; UQCR2"
                     /inference="alignment:Splign:2.1.0"
     exon            830..1029
                     /gene="UQCRC2"
                     /gene_synonym="MC3DN5; QCR2; UQCR2"
                     /inference="alignment:Splign:2.1.0"
     exon            1030..1110
                     /gene="UQCRC2"
                     /gene_synonym="MC3DN5; QCR2; UQCR2"
                     /inference="alignment:Splign:2.1.0"
     exon            1111..1187
                     /gene="UQCRC2"
                     /gene_synonym="MC3DN5; QCR2; UQCR2"
                     /inference="alignment:Splign:2.1.0"
     exon            1188..1341
                     /gene="UQCRC2"
                     /gene_synonym="MC3DN5; QCR2; UQCR2"
                     /inference="alignment:Splign:2.1.0"
     exon            1342..1914
                     /gene="UQCRC2"
                     /gene_synonym="MC3DN5; QCR2; UQCR2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1583..1588
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UQCRC2"
                     /gene_synonym="MC3DN5; QCR2; UQCR2"
                     /note="hexamer: AATAAA"
     polyA_site      1606
                     /gene="UQCRC2"
                     /gene_synonym="MC3DN5; QCR2; UQCR2"
                     /note="major polyA site"
     regulatory      1872..1877
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UQCRC2"
                     /gene_synonym="MC3DN5; QCR2; UQCR2"
                     /note="hexamer: AATAAA"
     polyA_site      1892
                     /gene="UQCRC2"
                     /gene_synonym="MC3DN5; QCR2; UQCR2"
                     /note="major polyA site"
ORIGIN      
        1 ctccgccacc atcttgcttt cctttaatcc ggcagtgacc gtgtgtcaga acaatcttga
       61 atcatgaagc tactaaccag agccggctct ttctcgagat tttattccct caaagttgcc
      121 cccaaagtta aagccacagc tgcgcctgca ggagcaccgc cacaacctca ggaccttgag
      181 tttaccaagt taccaaatgg cttggtgatt gcttctttgg aaaactattc tcctgtatca
      241 agaattggtt tgttcattaa agcaggcagt agatatgagg acttcagcaa tttaggaacc
      301 acccatttgc tgcgtcttac atccagtctg acgacaaaag gagcttcatc tttcaagata
      361 acccgtggaa ttgaagcagt tggtggcaaa ttaagtgtga ccgcaacaag ggaaaacatg
      421 gcttatactg tggaatgcct gcggggtgat gttgatattc taatggagtt cctgctcaat
      481 gtcaccacag caccagaatt tcgtcgttgg gaagtagctg accttcagcc tcagctaaag
      541 attgacaaag ctgtggcctt tcagaatccg cagactcatg tcattgaaaa tttgcatgca
      601 gcagcttacc ggaatgcctt ggctaatccc ttgtattgtc ctgactatag gattggaaaa
      661 gtgacatcag aggagttaca ttacttcgtt cagaaccatt tcacaagtgc aagaatggct
      721 ttgattggac ttggtgtgag tcatcctgtt ctaaagcaag ttgctgaaca gtttctcaac
      781 atgaggggtg ggcttggttt atctggtgca aaggccaact accgtggagg tgaaatccga
      841 gaacagaatg gagacagtct tgtccatgct gcttttgtag cagaaagtgc tgtcgcggga
      901 agtgcagagg caaatgcatt tagtgttctt cagcatgtcc tcggtgctgg gccacatgtc
      961 aagaggggca gcaacaccac cagccatctg caccaggctg ttgccaaggc aactcagcag
     1021 ccatttgatg tttctgcatt taatgccagt tactcagatt ctggactctt tgggatttat
     1081 actatctccc aggccacagc tgctggagat gttatcaagg ctgcctataa tcaagtaaaa
     1141 acaatagctc aaggaaacct ttccaacaca gatgtccaag ctgccaagaa caagctgaaa
     1201 gctggatacc taatgtcagt ggagtcttct gagtgtttcc tggaagaagt cgggtcccag
     1261 gctctagttg ctggttctta catgccacca tccacagtcc ttcagcagat tgattcagtg
     1321 gctaatgctg atatcataaa tgcggcaaag aagtttgttt ctggccagaa gtcaatggca
     1381 gcaagtggaa atttgggaca tacacctttt gttgatgagt tgtaatactg atgcacacat
     1441 tacaggagag agctgaacgt tctctcagcc cagagcagca aacacatgaa agtcagaagt
     1501 ctctaatata tcatttgtct tttttccagt gaggtaaaat aaggcataaa tgcaggtaat
     1561 tattcccagc tgacctaaag tcaataaaac attctgttta agtgtttttc ttacgttttt
     1621 ctcaatgagt taatcaacaa gtatttatta tgtgctgata tctttgtttt agatgcttta
     1681 aaggagacag gaatataatt attgagtata gaagcatcag aaactattaa aattaaggct
     1741 aagtggctat cggggtaaat agtgccagat tactattggt ggcgtttaag atgaaagcaa
     1801 gttcaaaatt tgtcattttg ggtgtcaaca gctaaatggt ctggttttta cccctgtttt
     1861 gccttttttg caataaaatt atttccaaaa aacatacatt tcctatcaat cata
//
