LOCUS       NM_006004                537 bp    mRNA    linear   PRI 26-FEB-2025
DEFINITION  Homo sapiens ubiquinol-cytochrome c reductase hinge protein
            (UQCRH), transcript variant 1, mRNA; nuclear gene for mitochondrial
            product.
ACCESSION   NM_006004
VERSION     NM_006004.4
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 537)
  AUTHORS   Tan,Y., Ma,Y., Guo,S. and Lin,Y.
  TITLE     Association of abnormal NDUFB2 and UQCRH expression with venous
            thromboembolism in patients with liver cirrhosis
  JOURNAL   Medicine (Baltimore) 103 (1), e36868 (2024)
   PUBMED   38181234
  REMARK    GeneRIF: Association of abnormal NDUFB2 and UQCRH expression with
            venous thromboembolism in patients with liver cirrhosis.
REFERENCE   2  (bases 1 to 537)
  AUTHORS   Miyakuni,K., Nishida,J., Koinuma,D., Nagae,G., Aburatani,H.,
            Miyazono,K. and Ehata,S.
  TITLE     Genome-wide analysis of DNA methylation identifies the
            apoptosis-related gene UQCRH as a tumor suppressor in renal cancer
  JOURNAL   Mol Oncol 16 (3), 732-749 (2022)
   PUBMED   34133843
  REMARK    GeneRIF: Genome-wide analysis of DNA methylation identifies the
            apoptosis-related gene UQCRH as a tumor suppressor in renal cancer.
REFERENCE   3  (bases 1 to 537)
  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 537)
  AUTHORS   Vidali,S., Gerlini,R., Thompson,K., Urquhart,J.E.,
            Meisterknecht,J., Aguilar-Pimentel,J.A., Amarie,O.V., Becker,L.,
            Breen,C., Calzada-Wack,J., Chhabra,N.F., Cho,Y.L., da
            Silva-Buttkus,P., Feichtinger,R.G., Gampe,K., Garrett,L.,
            Hoefig,K.P., Holter,S.M., Jameson,E., Klein-Rodewald,T.,
            Leuchtenberger,S., Marschall,S., Mayer-Kuckuk,P., Miller,G.,
            Oestereicher,M.A., Pfannes,K., Rathkolb,B., Rozman,J., Sanders,C.,
            Spielmann,N., Stoeger,C., Szibor,M., Treise,I., Walter,J.H.,
            Wurst,W., Mayr,J.A., Fuchs,H., Gartner,U., Wittig,I., Taylor,R.W.,
            Newman,W.G., Prokisch,H., Gailus-Durner,V. and Hrabe de Angelis,M.
  TITLE     Characterising a homozygous two-exon deletion in UQCRH: comparing
            human and mouse phenotypes
  JOURNAL   EMBO Mol Med 13 (12), e14397 (2021)
   PUBMED   34750991
  REMARK    GeneRIF: Characterising a homozygous two-exon deletion in UQCRH:
            comparing human and mouse phenotypes.
REFERENCE   5  (bases 1 to 537)
  AUTHORS   Luo,Y., Medina Bengtsson,L., Wang,X., Huang,T., Liu,G., Murphy,S.,
            Wang,C., Koren,J. 3rd, Schafer,Z. and Lu,X.
  TITLE     UQCRH downregulation promotes Warburg effect in renal cell
            carcinoma cells
  JOURNAL   Sci Rep 10 (1), 15021 (2020)
   PUBMED   32929120
  REMARK    GeneRIF: UQCRH downregulation promotes Warburg effect in renal cell
            carcinoma cells.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 537)
  AUTHORS   Park,E.R., Kim,S.B., Lee,J.S., Kim,Y.H., Lee,D.H., Cho,E.H.,
            Park,S.H., Han,C.J., Kim,B.Y., Choi,D.W., Yoo,Y.D., Yu,A.,
            Lee,J.W., Jang,J.J., Park,Y.N., Suh,K.S. and Lee,K.H.
  TITLE     The mitochondrial hinge protein, UQCRH, is a novel prognostic
            factor for hepatocellular carcinoma
  JOURNAL   Cancer Med 6 (4), 749-760 (2017)
   PUBMED   28332314
  REMARK    GeneRIF: Results show that UQCRH is overexpressed in hepatocellular
            carcinoma.
REFERENCE   7  (bases 1 to 537)
  AUTHORS   Zhao,X., Leon,I.R., Bak,S., Mogensen,M., Wrzesinski,K., Hojlund,K.
            and Jensen,O.N.
  TITLE     Phosphoproteome analysis of functional mitochondria isolated from
            resting human muscle reveals extensive phosphorylation of inner
            membrane protein complexes and enzymes
  JOURNAL   Mol Cell Proteomics 10 (1), M110.000299 (2011)
   PUBMED   20833797
REFERENCE   8  (bases 1 to 537)
  AUTHORS   Modena,P., Testi,M.A., Facchinetti,F., Mezzanzanica,D.,
            Radice,M.T., Pilotti,S. and Sozzi,G.
  TITLE     UQCRH gene encoding mitochondrial Hinge protein is interrupted by a
            translocation in a soft-tissue sarcoma and epigenetically
            inactivated in some cancer cell lines
  JOURNAL   Oncogene 22 (29), 4586-4593 (2003)
   PUBMED   12881716
  REMARK    GeneRIF: These data provide preliminary evidence of the
            inactivation of UQCRH gene in cancer either by structural
            rearrangements or epigenetic mechanisms.
REFERENCE   9  (bases 1 to 537)
  AUTHORS   Liu,A.Y. and Bradner,R.C.
  TITLE     Elevated expression of the human mitochondrial hinge protein gene
            in cancer
  JOURNAL   Cancer Res 53 (11), 2460-2465 (1993)
   PUBMED   7684318
REFERENCE   10 (bases 1 to 537)
  AUTHORS   Ohta,S., Goto,K., Arai,H. and Kagawa,Y.
  TITLE     An extremely acidic amino-terminal presequence of the precursor for
            the human mitochondrial hinge protein
  JOURNAL   FEBS Lett 226 (1), 171-175 (1987)
   PUBMED   2826252
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BP366403.1 and BC001934.1.
            
            On Nov 23, 2018 this sequence version replaced NM_006004.3.
            
            Transcript Variant: This variant (1) encodes the longest 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 :: AL583587.3, BG033879.1 [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                 :: ENST00000311672.10/
                                                  ENSP00000309565.5
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-10                BP366403.1         88-97
            11-537              BC001934.1         1-527
FEATURES             Location/Qualifiers
     source          1..537
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p33"
     gene            1..537
                     /gene="UQCRH"
                     /gene_synonym="MC3DN11; QCR6; UQCR8"
                     /note="ubiquinol-cytochrome c reductase hinge protein"
                     /db_xref="GeneID:7388"
                     /db_xref="HGNC:HGNC:12590"
                     /db_xref="MIM:613844"
     exon            1..123
                     /gene="UQCRH"
                     /gene_synonym="MC3DN11; QCR6; UQCR8"
                     /inference="alignment:Splign:2.1.0"
     CDS             70..345
                     /gene="UQCRH"
                     /gene_synonym="MC3DN11; QCR6; UQCR8"
                     /EC_number="7.1.1.8"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; ubiquinol-cytochrome c reductase, complex III
                     subunit VIII; cytochrome b-c1 complex subunit 6,
                     mitochondrial; complex III subunit 6; mitochondrial hinge
                     protein; cytochrome c1 non-heme 11 kDa protein;
                     ubiquinol-cytochrome c reductase complex 11 kDa protein"
                     /codon_start=1
                     /product="cytochrome b-c1 complex subunit 6, mitochondrial
                     isoform 1 precursor"
                     /protein_id="NP_005995.2"
                     /db_xref="CCDS:CCDS30704.1"
                     /db_xref="GeneID:7388"
                     /db_xref="HGNC:HGNC:12590"
                     /db_xref="MIM:613844"
                     /translation="MGLEDEQKMLTESGDPEEEEEEEEELVDPLTTVREQCEQLEKCV
                     KARERLELCDERVSSRSHTEEDCTEELFDFLHARDHCVAHKLFNNLK"
     exon            124..150
                     /gene="UQCRH"
                     /gene_synonym="MC3DN11; QCR6; UQCR8"
                     /inference="alignment:Splign:2.1.0"
     exon            151..312
                     /gene="UQCRH"
                     /gene_synonym="MC3DN11; QCR6; UQCR8"
                     /inference="alignment:Splign:2.1.0"
     exon            313..537
                     /gene="UQCRH"
                     /gene_synonym="MC3DN11; QCR6; UQCR8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      514..519
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UQCRH"
                     /gene_synonym="MC3DN11; QCR6; UQCR8"
                     /note="hexamer: AATAAA"
     polyA_site      537
                     /gene="UQCRH"
                     /gene_synonym="MC3DN11; QCR6; UQCR8"
                     /note="major polyA site"
ORIGIN      
        1 cttcttgatc ctgaactggg ttaggtgccg ctgttgctgc tcgtgttgaa tctagaaccg
       61 tagccagaca tgggactgga ggacgagcaa aagatgctta ccgaatccgg agatcctgag
      121 gaggaggaag aggaagagga ggaattagtg gatcccctaa caacagtgag agagcaatgc
      181 gagcagttgg agaaatgtgt aaaggcccgg gagcggctag agctctgtga tgagcgtgta
      241 tcctctcgat cacatacaga agaggattgc acggaggagc tctttgactt cttgcatgcg
      301 agggaccatt gcgtggccca caaactcttt aacaacttga aataaatgtg tggacttaat
      361 tcaccccagt cttcatcatc tgggcatcag aatatttcct tatggttttg gatgtaccat
      421 ttgtttctta tttgtgtaac tgtaagttca catgaacctc atgggtttgg cttaggctgg
      481 tagcttctat gtaattcgca atgattccat ctaaataaaa gttctatgat ctgcaaa
//
