LOCUS       NM_006003               3086 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens ubiquinol-cytochrome c reductase, Rieske iron-sulfur
            polypeptide 1 (UQCRFS1), mRNA; nuclear gene for mitochondrial
            product.
ACCESSION   NM_006003
VERSION     NM_006003.3
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 3086)
  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   2  (bases 1 to 3086)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 3086)
  AUTHORS   Mei,L., Zheng,Y.M., Song,T., Yadav,V.R., Joseph,L.C., Truong,L.,
            Kandhi,S., Barroso,M.M., Takeshima,H., Judson,M.A. and Wang,Y.X.
  TITLE     Rieske iron-sulfur protein induces FKBP12.6/RyR2 complex remodeling
            and subsequent pulmonary hypertension through NF-kappaB/cyclin D1
            pathway
  JOURNAL   Nat Commun 11 (1), 3527 (2020)
   PUBMED   32669538
  REMARK    GeneRIF: Rieske iron-sulfur protein induces FKBP12.6/RyR2 complex
            remodeling and subsequent pulmonary hypertension through
            NF-kappaB/cyclin D1 pathway.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3086)
  AUTHORS   Bogenhagen,D.F. and Haley,J.D.
  TITLE     Pulse-chase SILAC-based analyses reveal selective oversynthesis and
            rapid turnover of mitochondrial protein components of respiratory
            complexes
  JOURNAL   J Biol Chem 295 (9), 2544-2554 (2020)
   PUBMED   31974161
  REMARK    GeneRIF: Pulse-chase SILAC-based analyses reveal selective
            oversynthesis and rapid turnover of mitochondrial protein
            components of respiratory complexes.
REFERENCE   5  (bases 1 to 3086)
  AUTHORS   Gusic,M., Schottmann,G., Feichtinger,R.G., Du,C., Scholz,C.,
            Wagner,M., Mayr,J.A., Lee,C.Y., Yepez,V.A., Lorenz,N.,
            Morales-Gonzalez,S., Panneman,D.M., Rotig,A., Rodenburg,R.J.T.,
            Wortmann,S.B., Prokisch,H. and Schuelke,M.
  TITLE     Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial
            Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis
  JOURNAL   Am J Hum Genet 106 (1), 102-111 (2020)
   PUBMED   31883641
  REMARK    GeneRIF: Bi-Allelic UQCRFS1 Variants Are Associated with
            Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia
            Totalis.
REFERENCE   6  (bases 1 to 3086)
  AUTHORS   Sarto,C., Marocchi,A., Sanchez,J.C., Giannone,D., Frutiger,S.,
            Golaz,O., Wilkins,M.R., Doro,G., Cappellano,F., Hughes,G.,
            Hochstrasser,D.F. and Mocarelli,P.
  TITLE     Renal cell carcinoma and normal kidney protein expression
  JOURNAL   Electrophoresis 18 (3-4), 599-604 (1997)
   PUBMED   9150947
REFERENCE   7  (bases 1 to 3086)
  AUTHORS   Pennacchio,L.A., Bergmann,A., Fukushima,A., Okubo,K., Salemi,A. and
            Lennon,G.G.
  TITLE     Structure, sequence and location of the UQCRFS1 gene for the human
            Rieske Fe-S protein
  JOURNAL   Gene 155 (2), 207-211 (1995)
   PUBMED   7721092
REFERENCE   8  (bases 1 to 3086)
  AUTHORS   Duncan,A.M., Anderson,L., Duff,C., Ozawa,T., Suzuki,H., Worton,R.
            and Rozen,R.
  TITLE     Assignment of the gene (UQCRFS1) for the Rieske iron-sulfur protein
            subunit of the mitochondrial cytochrome bc1 complex to the 22q13
            and 19q12-q13.1 regions of the human genome
  JOURNAL   Genomics 21 (1), 281-283 (1994)
   PUBMED   8088805
REFERENCE   9  (bases 1 to 3086)
  AUTHORS   Nishikimi,M., Hosokawa,Y., Toda,H., Suzuki,H. and Ozawa,T.
  TITLE     The primary structure of human Rieske iron-sulfur protein of
            mitochondrial cytochrome bc1 complex deduced from cDNA analysis
  JOURNAL   Biochem Int 20 (1), 155-160 (1990)
   PUBMED   2158323
REFERENCE   10 (bases 1 to 3086)
  AUTHORS   Shimomura,Y., Nishikimi,M. and Ozawa,T.
  TITLE     Novel purification of cytochrome c1 from mitochondrial Complex III.
            Reconstitution of antimycin-insensitive electron transfer with the
            iron-sulfur protein and cytochrome c1
  JOURNAL   J Biol Chem 260 (28), 15075-15080 (1985)
   PUBMED   2999105
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BF979273.1, BF210184.1, BC010035.2 and AC007786.1.
            
            On Nov 23, 2018 this sequence version replaced NM_006003.2.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The genomic coordinates used
            for the transcript record were based on 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 :: SRR1803614.6808.1,
                                           SRR1803616.267851.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000304863.6/
                                                  ENSP00000306397.3
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-48                BF979273.1         87-134
            49-111              BF210184.1         22-84
            112-1073            BC010035.2         98-1059
            1074-1146           AC007786.1         107298-107370       c
            1147-3086           AC007786.1         105358-107297       c
FEATURES             Location/Qualifiers
     source          1..3086
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q12"
     gene            1..3086
                     /gene="UQCRFS1"
                     /gene_synonym="MC3DN10; RIP1; RIS1; RISP; UQCR5"
                     /note="ubiquinol-cytochrome c reductase, Rieske
                     iron-sulfur polypeptide 1"
                     /db_xref="GeneID:7386"
                     /db_xref="HGNC:HGNC:12587"
                     /db_xref="MIM:191327"
     exon            1..247
                     /gene="UQCRFS1"
                     /gene_synonym="MC3DN10; RIP1; RIS1; RISP; UQCR5"
                     /inference="alignment:Splign:2.1.0"
     CDS             34..858
                     /gene="UQCRFS1"
                     /gene_synonym="MC3DN10; RIP1; RIS1; RISP; UQCR5"
                     /EC_number="7.1.1.8"
                     /note="complex III subunit 5; Rieske iron-sulfur protein;
                     cytochrome b-c1 complex subunit 5; ubiquinol-cytochrome c
                     reductase iron-sulfur subunit; Rieske protein UQCRFS1;
                     epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="cytochrome b-c1 complex subunit Rieske,
                     mitochondrial"
                     /protein_id="NP_005994.2"
                     /db_xref="CCDS:CCDS12415.1"
                     /db_xref="GeneID:7386"
                     /db_xref="HGNC:HGNC:12587"
                     /db_xref="MIM:191327"
                     /translation="MLSVASRSGPFAPVLSATSRGVAGALRPLVQATVPATPEQPVLD
                     LKRPFLSRESLSGQAVRRPLVASVGLNVPASVCYSHTDIKVPDFSEYRRLEVLDSTKS
                     SRESSEARKGFSYLVTGVTTVGVAYAAKNAVTQFVSSMSASADVLALAKIEIKLSDIP
                     EGKNMAFKWRGKPLFVRHRTQKEIEQEAAVELSQLRDPQHDLDRVKKPEWVILIGVCT
                     HLGCVPIANAGDFGGYYCPCHGSHYDASGRIRLGPAPLNLEVPTYEFTSDDMVIVG"
     exon            248..3086
                     /gene="UQCRFS1"
                     /gene_synonym="MC3DN10; RIP1; RIS1; RISP; UQCR5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1118..1123
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UQCRFS1"
                     /gene_synonym="MC3DN10; RIP1; RIS1; RISP; UQCR5"
                     /note="hexamer: ATTACA"
     polyA_site      1140
                     /gene="UQCRFS1"
                     /gene_synonym="MC3DN10; RIP1; RIS1; RISP; UQCR5"
                     /note="major polyA site"
     regulatory      3067..3072
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UQCRFS1"
                     /gene_synonym="MC3DN10; RIP1; RIS1; RISP; UQCR5"
                     /note="hexamer: ACTAAA"
     polyA_site      3086
                     /gene="UQCRFS1"
                     /gene_synonym="MC3DN10; RIP1; RIS1; RISP; UQCR5"
ORIGIN      
        1 gtgaccggct tggcggttgg agcggctgtc gccatgttgt cggtagcatc ccgctcaggc
       61 ccgttcgcgc ccgtcctgtc ggccacgtcc cgcggggtgg cgggcgcgct gcggcccttg
      121 gtgcaggcca cggtgcccgc caccccggag cagcctgtgt tggacctgaa gcggcccttc
      181 ctcagccggg agtcgctgag cggccaggcc gtgcgccggc ctttggtcgc ctccgtgggc
      241 ctcaatgtcc ctgcttctgt ttgttattcc cacacagaca tcaaggtgcc tgacttctct
      301 gaataccgcc gccttgaagt tttagatagt acgaagtctt caagagaaag cagcgaggct
      361 aggaaaggtt tctcctattt ggtaactgga gtaactactg tgggtgtcgc atatgctgcc
      421 aagaatgccg tcacccagtt cgtttccagc atgagtgctt ctgctgatgt gttggccctg
      481 gcgaaaatcg aaatcaagtt atccgatatt ccagaaggca agaacatggc tttcaaatgg
      541 agaggcaaac ccctgtttgt gcgtcataga acccagaagg aaattgagca ggaagctgca
      601 gttgaattat cacagttgag ggacccacag catgatctag atcgagtaaa gaaacctgaa
      661 tgggttatcc tgataggtgt ttgcactcat cttggctgtg tacccattgc aaatgcagga
      721 gattttggtg gttattactg cccttgccat gggtcacact atgatgcatc tggcaggatc
      781 agattgggtc ctgctcctct caaccttgaa gtccccacgt atgagttcac cagtgacgat
      841 atggtgattg ttggttaaga gacttggact caagtcatag gcttctttca gtctttatgt
      901 cacctcagga gacttatttg agaggaagcc ttctgtactt gaagttgatt tgaaatatgt
      961 aagaattgat gatgtatttg caaacattaa tgtgaaataa attgaattta atgttgaata
     1021 ctttcaggca ttcacttaat aaagacactg ttaagcactg ttatgctcag tcatacacgc
     1081 gaaaggtaca atgtctttta gctaattcta attaaaaatt acagactggt gtacaagata
     1141 cttgtgaaat ctgtaactga ctttattttc ttgcccaaat atttgcttcc tgctttgcgt
     1201 cagggacgca gattctgcac ggtcattgtt gggatgaagt aaaattaacg ggtcatctaa
     1261 gtgtctatgg cattgacaga aacagtagta tctaggtatt ccttatttac cggacttggt
     1321 aagagtcctg gctatgcatt tcctccctac tgtgtaagcc gtgtgataat ctcaacacta
     1381 atctgtggga aagagtcctg aatgaggcat tagtagctct gagggtttat cttcacgtct
     1441 ggtctgctgg tttttctcct taagtgacag gccaggaaat tttattagtc ccttatgagt
     1501 gtaaattagt acttaatcct ttagtcttaa taggcagtga tgggatatta cctgagagaa
     1561 actttccaaa atgagagtgc tctgccattt cgttcatttt gtgtgtggtt catcatgtcc
     1621 ccaaagttcc tgcatccact ctatcaggag gcagaaaggg agcatctgag acctaatact
     1681 gcctgcatgc agaagtggtc ctgctgggtt tgtttctgta gtgatgacac tttgaatgtt
     1741 ttttcctgtt gggtttacag tcactcagca cttttcactg taagatggtg tggaaccaga
     1801 cgcagagcac atcggaattc acatcctatt ctgcctccaa ttacacaggt gaaacaagac
     1861 taaggtccat tttcccctgg gagttgggag tgggctttgt cctttgagaa tcacagtcac
     1921 tttttgatgt gtttgtcttt gctgtttaga ggtggaccag tcgtgcttta ctgagtctac
     1981 ctgataatct catgtacact tttttaaaat ggcaaaaatg gttaggttgg gtctgcccaa
     2041 agggaactga ccatccagga ttccagcctt tgatgttaat agctaggtgt tgacagaaaa
     2101 aagaaaatgt caaactttct atgcttatga gtagatacta gtctttgctt catttttacc
     2161 attctagaaa tgaaattagc atgtgtgata attggtggga cacagaagta ttttatattc
     2221 tgtgtctcta gatagtggag gcactcttcg gattgggggt tggaggaagg gttggtggca
     2281 gagttggaat gtgaaacatt gagttgtgag gggaacacag gtccacacac taaaaaacct
     2341 gtgctgccaa aaatgtcaac agcaccccct ccctatagag aaatactgat aacctatatc
     2401 acctcccacc ctgaagtgat accttgaaat tctacatggc agtggaggac agaagtagga
     2461 agtttgcagg tctctaggta ctcacttagt gccggaattg ctatatttgg tggctgctta
     2521 cttcatcttt catatttaga gtttgatggt gggatgctgt taaattgtag tagaccattt
     2581 agtttttaaa gaaggctttg ttccacaagt gacaggacaa gtcaagtcac ttcatgctgt
     2641 tttgctgaat ggatacggca gacctgtgtt aacattttta ccattctgtg aaaacaaaat
     2701 cctagatagt aggagaaaat tacttacaga ataaacctga ccagctagca ccctgacatc
     2761 agatcattaa cctactgcat tttattgggg ataattcttg ggacaatctt gagagccaag
     2821 tgttttcatt atgctttaaa aagtgttata aaaatggcct ttttgaaaat gttgcattat
     2881 ttgttaaaga taacatcaaa ttttctttgg tctttctgag catacctttg taaaaacttt
     2941 gactcaatct gagtgtatag agggcatttg tcctgactgg atcaaaatgt gctttagtac
     3001 cctcattttt ctaaactgta ggaacatact atttaaatat cagaagtaat tcttcattct
     3061 cacagtacta aatttcattt tctgta
//
