LOCUS       NM_013387                916 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens ubiquinol-cytochrome c reductase, complex III subunit
            X (UQCR10), transcript variant 1, mRNA.
ACCESSION   NM_013387
VERSION     NM_013387.4
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 916)
  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   2  (bases 1 to 916)
  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 916)
  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 916)
  AUTHORS   Olsen,T.K., Panagopoulos,I., Gorunova,L., Micci,F., Andersen,K.,
            Kilen Andersen,H., Meling,T.R., Due-Tonnessen,B., Scheie,D.,
            Heim,S. and Brandal,P.
  TITLE     Novel fusion genes and chimeric transcripts in ependymal tumors
  JOURNAL   Genes Chromosomes Cancer 55 (12), 944-953 (2016)
   PUBMED   27401149
  REMARK    GeneRIF: Reciprocal fusion gene involving UQCR10 and C1orf194 is
            associated with spinal ependymoma.
REFERENCE   5  (bases 1 to 916)
  AUTHORS   Calvo,S.E., Compton,A.G., Hershman,S.G., Lim,S.C., Lieber,D.S.,
            Tucker,E.J., Laskowski,A., Garone,C., Liu,S., Jaffe,D.B.,
            Christodoulou,J., Fletcher,J.M., Bruno,D.L., Goldblatt,J.,
            Dimauro,S., Thorburn,D.R. and Mootha,V.K.
  TITLE     Molecular diagnosis of infantile mitochondrial disease with
            targeted next-generation sequencing
  JOURNAL   Sci Transl Med 4 (118), 118ra10 (2012)
   PUBMED   22277967
  REMARK    GeneRIF: Strong candidate gene for mitochondrial disease, based on
            recessive mutations detected in infantile patients
REFERENCE   6  (bases 1 to 916)
  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   7  (bases 1 to 916)
  AUTHORS   Guzy,R.D., Hoyos,B., Robin,E., Chen,H., Liu,L., Mansfield,K.D.,
            Simon,M.C., Hammerling,U. and Schumacker,P.T.
  TITLE     Mitochondrial complex III is required for hypoxia-induced ROS
            production and cellular oxygen sensing
  JOURNAL   Cell Metab 1 (6), 401-408 (2005)
   PUBMED   16054089
  REMARK    GeneRIF: Functionality of complex III of the mitochondrial electron
            transport chain is required for the hypoxic stabilization of HIF-1
            alpha and HIF-2 alpha
REFERENCE   8  (bases 1 to 916)
  AUTHORS   Wistow,G., Bernstein,S.L., Wyatt,M.K., Behal,A., Touchman,J.W.,
            Bouffard,G., Smith,D. and Peterson,K.
  TITLE     Expressed sequence tag analysis of adult human lens for the NEIBank
            Project: over 2000 non-redundant transcripts, novel genes and
            splice variants
  JOURNAL   Mol Vis 8, 171-184 (2002)
   PUBMED   12107413
  REMARK    Publication Status: Online-Only
REFERENCE   9  (bases 1 to 916)
  AUTHORS   Dunham,I., Shimizu,N., Roe,B.A., Chissoe,S., Hunt,A.R.,
            Collins,J.E., Bruskiewich,R., Beare,D.M., Clamp,M., Smink,L.J.,
            Ainscough,R., Almeida,J.P., Babbage,A., Bagguley,C., Bailey,J.,
            Barlow,K., Bates,K.N., Beasley,O., Bird,C.P., Blakey,S.,
            Bridgeman,A.M., Buck,D., Burgess,J., Burrill,W.D., O'Brien,K.P. et
            al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
REFERENCE   10 (bases 1 to 916)
  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
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CB999839.1, BI754905.1 and CA311834.1.
            
            On Nov 22, 2018 this sequence version replaced NM_013387.3.
            
            Summary: UCRC is a subunit of mitochondrial complex III
            (ubiquinol-cytochrome c reductase; EC 1.10.2.2), which forms the
            middle segment of the respiratory chain of the inner mitochondrial
            membrane (Schagger et al., 1995 [PubMed 8592474]).[supplied by
            OMIM, Mar 2008].
            
            Transcript Variant: This variant (1) encodes the longer and
            predominant isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189655.194147.1,
                                           SRR5189655.7688.1 [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                 :: ENST00000330029.6/
                                                  ENSP00000332887.6
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-591               CB999839.1         3-593
            592-747             BI754905.1         554-709
            748-916             CA311834.1         19-187              c
FEATURES             Location/Qualifiers
     source          1..916
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.2"
     gene            1..916
                     /gene="UQCR10"
                     /gene_synonym="HSPC051; HSPC119; HSPC151; QCR9; UCCR7.2;
                     UCRC"
                     /note="ubiquinol-cytochrome c reductase, complex III
                     subunit X"
                     /db_xref="GeneID:29796"
                     /db_xref="HGNC:HGNC:30863"
                     /db_xref="MIM:610843"
     exon            1..180
                     /gene="UQCR10"
                     /gene_synonym="HSPC051; HSPC119; HSPC151; QCR9; UCCR7.2;
                     UCRC"
                     /inference="alignment:Splign:2.1.0"
     CDS             31..222
                     /gene="UQCR10"
                     /gene_synonym="HSPC051; HSPC119; HSPC151; QCR9; UCCR7.2;
                     UCRC"
                     /note="isoform a is encoded by transcript variant 1;
                     ubiquinol-cytochrome c reductase, complex III subunit X,
                     7.2kDa; ubiquinol-cytochrome c reductase complex (7.2 kD);
                     cytochrome b-c1 complex subunit 9; cytochrome C1, nonheme
                     7kDa protein; cytochrome c1 non-heme 7 kDa protein;
                     ubiquinol-cytochrome c reductase complex 7.2 kDa protein"
                     /codon_start=1
                     /product="cytochrome b-c1 complex subunit 9 isoform a"
                     /protein_id="NP_037519.2"
                     /db_xref="CCDS:CCDS46680.1"
                     /db_xref="GeneID:29796"
                     /db_xref="HGNC:HGNC:30863"
                     /db_xref="MIM:610843"
                     /translation="MAAATLTSKLYSLLFRRTSTFALTIIVGVMFFERAFDQGADAIY
                     DHINEGKLWKHIKHKYENK"
     exon            181..916
                     /gene="UQCR10"
                     /gene_synonym="HSPC051; HSPC119; HSPC151; QCR9; UCCR7.2;
                     UCRC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      426..431
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UQCR10"
                     /gene_synonym="HSPC051; HSPC119; HSPC151; QCR9; UCCR7.2;
                     UCRC"
                     /note="hexamer: AATAAA"
     polyA_site      447
                     /gene="UQCR10"
                     /gene_synonym="HSPC051; HSPC119; HSPC151; QCR9; UCCR7.2;
                     UCRC"
                     /note="major polyA site"
     regulatory      898..903
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UQCR10"
                     /gene_synonym="HSPC051; HSPC119; HSPC151; QCR9; UCCR7.2;
                     UCRC"
                     /note="hexamer: AATAAA"
     polyA_site      916
                     /gene="UQCR10"
                     /gene_synonym="HSPC051; HSPC119; HSPC151; QCR9; UCCR7.2;
                     UCRC"
ORIGIN      
        1 gcggtggcgc gagttggact gtgaagaaac atggcggccg cgacgttgac ttcgaaattg
       61 tactccctgc tgttccgcag gacctccacc ttcgccctca ccatcatcgt gggcgtcatg
      121 ttcttcgagc gcgccttcga tcaaggcgcg gacgctatct acgaccacat caacgagggg
      181 aagctgtgga aacacatcaa gcacaagtat gagaacaagt agttccttgg aggcccccat
      241 ccaggccaga aggaccaggt ccacccagca gctgtttgcc cagagctgga gcctcagctt
      301 gaagatgatg ctcaaggtac tcttcatgga ccaccattcg ctgttggcaa gaaacggctt
      361 tacttacaaa acagactctt taccttctgc tgtgtttgaa gtatgtttag tcagcatgct
      421 caggaaataa atgtgaattg cccttgagac ctgcttctac attggttgct ttgttaactc
      481 tacctgatct tcacttgtca gtaatttgag accacttcaa agccctctgc aaacacccca
      541 aaggcagaat ctgctatttt gagttttcca ttaacttcca aagaattctg gttttcaaaa
      601 caggagccag agttggagat attacagtca actttggctt ctaagccagt aattccattc
      661 ttaaatacct cactgtcttg gccatgggga agcactatgg cctcagctgg gggaaagacc
      721 ctggcctagg ggtcttagcc actccccacc ctagggtata gttcaggggt atccaatcct
      781 ttggcttccc tgggccatgt tggaagaatt gtcttgggcc acacataaaa tacagtaacc
      841 atagctgatg agctaaaaca aaaaacaatg gtttgtgcaa aaatctcata atgttttaat
      901 aaagttgaag aatttg
//
