LOCUS       NM_014402               1573 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens ubiquinol-cytochrome c reductase complex III subunit
            VII (UQCRQ), mRNA.
ACCESSION   NM_014402
VERSION     NM_014402.5
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 1573)
  AUTHORS   Qiu,L., Sheng,P. and Wang,X.
  TITLE     Identification of Metabolic Syndrome-Related miRNA-mRNA Regulatory
            Networks and Key Genes Based on Bioinformatics Analysis
  JOURNAL   Biochem Genet 61 (1), 428-447 (2023)
   PUBMED   35877019
  REMARK    GeneRIF: Identification of Metabolic Syndrome-Related miRNA-mRNA
            Regulatory Networks and Key Genes Based on Bioinformatics Analysis.
REFERENCE   2  (bases 1 to 1573)
  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 1573)
  AUTHORS   Guo,R., Zong,S., Wu,M., Gu,J. and Yang,M.
  TITLE     Architecture of Human Mitochondrial Respiratory Megacomplex
            I2III2IV2
  JOURNAL   Cell 170 (6), 1247-1257 (2017)
   PUBMED   28844695
REFERENCE   4  (bases 1 to 1573)
  AUTHORS   Yin,L., Coelho,S.G., Valencia,J.C., Ebsen,D., Mahns,A., Smuda,C.,
            Miller,S.A., Beer,J.Z., Kolbe,L. and Hearing,V.J.
  TITLE     Identification of Genes Expressed in Hyperpigmented Skin Using
            Meta-Analysis of Microarray Data Sets
  JOURNAL   J Invest Dermatol 135 (10), 2455-2463 (2015)
   PUBMED   25950827
  REMARK    GeneRIF: QP-C protein gene expression involved in the development
            of hyperpigmentation.
REFERENCE   5  (bases 1 to 1573)
  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   6  (bases 1 to 1573)
  AUTHORS   Barel,O., Shorer,Z., Flusser,H., Ofir,R., Narkis,G., Finer,G.,
            Shalev,H., Nasasra,A., Saada,A. and Birk,O.S.
  TITLE     Mitochondrial complex III deficiency associated with a homozygous
            mutation in UQCRQ
  JOURNAL   Am J Hum Genet 82 (5), 1211-1216 (2008)
   PUBMED   18439546
  REMARK    GeneRIF: We thus suggest that a homozygous mutation in UQCRQ is
            associated with defective function of mitochondrial complex III,
            leading to a severe autosomal-recessive neurological phenotype.
REFERENCE   7  (bases 1 to 1573)
  AUTHORS   Wen,J.J. and Garg,N.
  TITLE     Oxidative modification of mitochondrial respiratory complexes in
            response to the stress of Trypanosoma cruzi infection
  JOURNAL   Free Radic Biol Med 37 (12), 2072-2081 (2004)
   PUBMED   15544925
REFERENCE   8  (bases 1 to 1573)
  AUTHORS   Schagger,H., Brandt,U., Gencic,S. and von Jagow,G.
  TITLE     Ubiquinol-cytochrome-c reductase from human and bovine mitochondria
  JOURNAL   Methods Enzymol 260, 82-96 (1995)
   PUBMED   8592474
REFERENCE   9  (bases 1 to 1573)
  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 1573)
  AUTHORS   Usui,S., Yu,L. and Yu,C.A.
  TITLE     The small molecular mass ubiquinone-binding protein (QPc-9.5 kDa)
            in mitochondrial ubiquinol-cytochrome c reductase: isolation,
            ubiquinone-binding domain, and immunoinhibition
  JOURNAL   Biochemistry 29 (19), 4618-4626 (1990)
   PUBMED   2164842
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BU953465.1, CR743513.1,
            BU190580.1 and AC004500.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_014402.4.
            
            Summary: This gene encodes a ubiquinone-binding protein of low
            molecular mass. This protein is a small core-associated protein and
            a subunit of ubiquinol-cytochrome c reductase complex III, which is
            part of the mitochondrial respiratory chain. [provided by RefSeq,
            Jul 2008].
            
            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 :: SRR5189655.63876.1,
                                           SRR1803611.53820.1 [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                 :: ENST00000378670.8/
                                                  ENSP00000367939.3
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-412               BU953465.1         19-430
            413-745             CR743513.1         135-467
            746-1287            BU190580.1         254-795
            1288-1570           AC004500.1         35113-35395         c
            1571-1573           AC004500.1         35110-35112         c
FEATURES             Location/Qualifiers
     source          1..1573
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.1"
     gene            1..1573
                     /gene="UQCRQ"
                     /gene_synonym="MC3DN4; QCR8; QP-C; QPC; UQCR7"
                     /note="ubiquinol-cytochrome c reductase complex III
                     subunit VII"
                     /db_xref="GeneID:27089"
                     /db_xref="HGNC:HGNC:29594"
                     /db_xref="MIM:612080"
     exon            1..46
                     /gene="UQCRQ"
                     /gene_synonym="MC3DN4; QCR8; QP-C; QPC; UQCR7"
                     /inference="alignment:Splign:2.1.0"
     exon            47..213
                     /gene="UQCRQ"
                     /gene_synonym="MC3DN4; QCR8; QP-C; QPC; UQCR7"
                     /inference="alignment:Splign:2.1.0"
     CDS             60..308
                     /gene="UQCRQ"
                     /gene_synonym="MC3DN4; QCR8; QP-C; QPC; UQCR7"
                     /EC_number="7.1.1.8"
                     /note="low molecular mass ubiquinone-binding protein
                     (9.5kD); complex III subunit 8; complex III subunit VIII;
                     ubiquinol-cytochrome c reductase complex 9.5 kDa protein;
                     ubiquinol-cytochrome c reductase complex
                     ubiquinone-binding protein QP-C; ubiquinol-cytochrome c
                     reductase, complex III subunit VII, 9.5kDa"
                     /codon_start=1
                     /product="cytochrome b-c1 complex subunit 8"
                     /protein_id="NP_055217.2"
                     /db_xref="CCDS:CCDS34237.1"
                     /db_xref="GeneID:27089"
                     /db_xref="HGNC:HGNC:29594"
                     /db_xref="MIM:612080"
                     /translation="MGREFGNLTRMRHVISYSLSPFEQRAYPHVFTKGIPNVLRRIRE
                     SFFRVVPQFVVFYLIYTWGTEEFERSKRKNPAAYENDK"
     exon            214..1573
                     /gene="UQCRQ"
                     /gene_synonym="MC3DN4; QCR8; QP-C; QPC; UQCR7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      392..397
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UQCRQ"
                     /gene_synonym="MC3DN4; QCR8; QP-C; QPC; UQCR7"
                     /note="hexamer: AATAAA"
     polyA_site      413
                     /gene="UQCRQ"
                     /gene_synonym="MC3DN4; QCR8; QP-C; QPC; UQCR7"
                     /note="major polyA site"
     regulatory      424..429
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UQCRQ"
                     /gene_synonym="MC3DN4; QCR8; QP-C; QPC; UQCR7"
                     /note="hexamer: ATTACA"
     polyA_site      444
                     /gene="UQCRQ"
                     /gene_synonym="MC3DN4; QCR8; QP-C; QPC; UQCR7"
     regulatory      661..666
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UQCRQ"
                     /gene_synonym="MC3DN4; QCR8; QP-C; QPC; UQCR7"
                     /note="hexamer: AATAAA"
     polyA_site      686
                     /gene="UQCRQ"
                     /gene_synonym="MC3DN4; QCR8; QP-C; QPC; UQCR7"
     regulatory      1550..1555
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UQCRQ"
                     /gene_synonym="MC3DN4; QCR8; QP-C; QPC; UQCR7"
                     /note="hexamer: AATAAA"
     polyA_site      1573
                     /gene="UQCRQ"
                     /gene_synonym="MC3DN4; QCR8; QP-C; QPC; UQCR7"
ORIGIN      
        1 gaacgagtca accggatcgg tgactgtgga gggcgagctg agccctggcc gccgccacaa
       61 tgggccgcga gtttgggaat ctgacgcgga tgcggcatgt gatcagctac agcttgtcac
      121 cgttcgagca gcgcgcctat ccgcacgtct tcactaaagg aatccccaat gttctgcgcc
      181 gcattcggga gtctttcttt cgcgtggtgc cgcagtttgt agtgttttat cttatctaca
      241 catgggggac tgaagagttc gagagatcca agaggaagaa tccagctgcc tatgaaaatg
      301 acaaatgagc aacgcatccg gatgacggtt ccctgtctct gaaagacctt tctctggaag
      361 aggagtctgc attgtagtgt ctcaaagaca caataaactt cctatggtct gcactgttgt
      421 gatattacat ttttgtgagt agaatcctgt gtgaccacta atattcaagt tcatgaagcg
      481 cccctcctca gcatgagtct tgaagttttg cctggtctcg ggttttggtg aaagagcagg
      541 gctccccctt tgttccatta tctacaagaa agtagctgca ggtactcctg catctaacca
      601 tttgtgggtg acatgggcta tggcgagtgc tggttcttgg ccctctgctc ccatagcaac
      661 aataaagtct actaactata ttgtaattag tatgtgtcag ggacgctttt attttttatt
      721 ttttgagatg gagtcttgct ctctcaccca ggctggagtg cagtggtgtg atctcggctc
      781 actgccatct gtgcctcctg ggttcaaacg attctcctgt ctcagcctcc gagtagctgg
      841 gattacaggt gcaggacacc acacctggct aattttttgt atttttagta gagacaggtt
      901 tcaccatgtt ggccaggctg gtctggaact cctgacctca gatgatctgt gcgcctcagc
      961 ctcccaaagt gctgggatta caggcgtaag ccatggtgct ctgggcctca aatactcttc
     1021 ttagctacac aaatgaactg ttaaacctca caagcacctt taacgtatcc tcatttggca
     1081 gatgaggaaa tgggcacaga gagattaagt aatttgccag aaattataca gcagtgaatg
     1141 gtggagtctt gcactaaagt gatgctctta aaactatgct ctattgcagg ggtgtccaat
     1201 cttttagctt ccctgggcca cacataaaat acgctaacat tacaatagct gataagcttt
     1261 aaaaaatggc aaaaaaaacc ctcagcgttt tagaaagttt acaaattttt gttgggtcgg
     1321 attcaaagcc atcctgggct gcttgctgcc caggactgcg gttggacaag cttgctctac
     1381 tgcctttcct cctaaggcag gccttagcct gaggggatat cagctataaa acggatgagg
     1441 tgatctctta gcctccacag cagttttctg tttctgtgcc aggaggccaa caatgttttc
     1501 aaccatatgt ggttcataaa gcctcaaaga tttactctgg ccctttatga ataaagttta
     1561 cccctgatct aaa
//
