LOCUS       NM_003365               1595 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens ubiquinol-cytochrome c reductase core protein 1
            (UQCRC1), mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_003365
VERSION     NM_003365.3
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 1595)
  AUTHORS   Wang,S., Zheng,X., Ou,R., Wei,Q., Lin,J., Yang,T., Xiao,Y.,
            Jiang,Q., Li,C. and Shang,H.
  TITLE     Rare variant analysis of UQCRC1 in Chinese patients with
            early-onset Parkinson's disease
  JOURNAL   Neurobiol Aging 134, 40-42 (2024)
   PUBMED   37984314
  REMARK    GeneRIF: Rare variant analysis of UQCRC1 in Chinese patients with
            early-onset Parkinson's disease.
REFERENCE   2  (bases 1 to 1595)
  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 1595)
  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 1595)
  AUTHORS   Senkevich,K., Bandres-Ciga,S., Gan-Or,Z. and Krohn,L.
  CONSRTM   International Parkinson's Disease Genomics Consortium (IPDGC)
  TITLE     Lack of evidence for association of UQCRC1 with Parkinson's disease
            in Europeans
  JOURNAL   Neurobiol Aging 101, 297 (2021)
   PUBMED   33248804
  REMARK    GeneRIF: Lack of evidence for association of UQCRC1 with
            Parkinson's disease in Europeans.
REFERENCE   5  (bases 1 to 1595)
  AUTHORS   Lin,C.H., Tsai,P.I., Lin,H.Y., Hattori,N., Funayama,M., Jeon,B.,
            Sato,K., Abe,K., Mukai,Y., Takahashi,Y., Li,Y., Nishioka,K.,
            Yoshino,H., Daida,K., Chen,M.L., Cheng,J., Huang,C.Y., Tzeng,S.R.,
            Wu,Y.S., Lai,H.J., Tsai,H.H., Yen,R.F., Lee,N.C., Lo,W.C.,
            Hung,Y.C., Chan,C.C., Ke,Y.C., Chao,C.C., Hsieh,S.T., Farrer,M. and
            Wu,R.M.
  TITLE     Mitochondrial UQCRC1 mutations cause autosomal dominant
            parkinsonism with polyneuropathy
  JOURNAL   Brain 143 (11), 3352-3373 (2020)
   PUBMED   33141179
  REMARK    GeneRIF: Mitochondrial UQCRC1 mutations cause autosomal dominant
            parkinsonism with polyneuropathy.
REFERENCE   6  (bases 1 to 1595)
  AUTHORS   Islam,M.M., Tanaka,M., Suzuki,H., Torii,K., Hattori,N. and Ozawa,T.
  TITLE     A complete cDNA sequence for core I protein subunit of human
            ubiquinol-cytochrome c reductase
  JOURNAL   Biochem Mol Biol Int 33 (4), 815 (1994)
   PUBMED   7981668
  REMARK    Correction to:[Biochem Mol Biol Int. 1994 Apr;32(5):797-805.. PMID:
            8069229]
REFERENCE   7  (bases 1 to 1595)
  AUTHORS   Islam,M.M., Tanaka,M., Suzuki,H., Torii,K., Hattori,N. and Ozawa,T.
  TITLE     A complete cDNA sequence for core I protein subunit of human
            ubiquinol-cytochrome c reductase
  JOURNAL   Biochem Mol Biol Int 33 (2), 410 (1994)
   PUBMED   7951059
  REMARK    Correction to:[Biochem Mol Biol Int. 1994 Apr;32(5):797-805.. PMID:
            8069229]
REFERENCE   8  (bases 1 to 1595)
  AUTHORS   Islam,M.M., Tanaka,M., Suzuki,H., Torii,K., Hattori,N. and Ozawa,T.
  TITLE     A complete cDNA sequence for core I protein subunit of human
            ubiquinol-cytochrome c reductase
  JOURNAL   Biochem Mol Biol Int 32 (5), 797-805 (1994)
   PUBMED   8069229
  REMARK    Erratum:[Biochem Mol Biol Int. 1994 May;33(2):410.. PMID: 7951059]
REFERENCE   9  (bases 1 to 1595)
  AUTHORS   Suzuki,H., Hosokawa,Y., Nishikimi,M. and Ozawa,T.
  TITLE     Existence of common homologous elements in the transcriptional
            regulatory regions of human nuclear genes and mitochondrial gene
            for the oxidative phosphorylation system
  JOURNAL   J Biol Chem 266 (4), 2333-2338 (1991)
   PUBMED   1846623
REFERENCE   10 (bases 1 to 1595)
  AUTHORS   Broger,C., Nalecz,M.J. and Azzi,A.
  TITLE     Interaction of cytochrome c with cytochrome bc1 complex of the
            mitochondrial respiratory chain
  JOURNAL   Biochim Biophys Acta 592 (3), 519-527 (1980)
   PUBMED   6251869
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            L16842.1, AK129903.1 and AA284910.1.
            
            On Nov 22, 2018 this sequence version replaced NM_003365.2.
            
            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 :: SRR3476690.1027118.1,
                                           SRR3476690.104321.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000203407.6/
                                                  ENSP00000203407.5
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-927               L16842.1           392-1318
            928-1574            AK129903.1         927-1573
            1575-1595           AA284910.1         84-104
FEATURES             Location/Qualifiers
     source          1..1595
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..1595
                     /gene="UQCRC1"
                     /gene_synonym="D3S3191; PKNPY; QCR1; UQCR1"
                     /note="ubiquinol-cytochrome c reductase core protein 1"
                     /db_xref="GeneID:7384"
                     /db_xref="HGNC:HGNC:12585"
                     /db_xref="MIM:191328"
     exon            1..95
                     /gene="UQCRC1"
                     /gene_synonym="D3S3191; PKNPY; QCR1; UQCR1"
                     /inference="alignment:Splign:2.1.0"
     CDS             27..1469
                     /gene="UQCRC1"
                     /gene_synonym="D3S3191; PKNPY; QCR1; UQCR1"
                     /EC_number="7.1.1.8"
                     /note="cytochrome b-c1 complex subunit 1, mitochondrial;
                     core protein I; complex III subunit 1;
                     ubiquinol-cytochrome-c reductase complex core protein 1;
                     ubiquinol-cytochrome c reductase core protein I"
                     /codon_start=1
                     /product="cytochrome b-c1 complex subunit 1, mitochondrial
                     precursor"
                     /protein_id="NP_003356.2"
                     /db_xref="CCDS:CCDS2774.1"
                     /db_xref="GeneID:7384"
                     /db_xref="HGNC:HGNC:12585"
                     /db_xref="MIM:191328"
                     /translation="MAASVVCRAATAGAQVLLRARRSPALLRTPALRSTATFAQALQF
                     VPETQVSLLDNGLRVASEQSSQPTCTVGVWIDVGSRFETEKNNGAGYFLEHLAFKGTK
                     NRPGSALEKEVESMGAHLNAYSTREHTAYYIKALSKDLPKAVELLGDIVQNCSLEDSQ
                     IEKERDVILREMQENDASMRDVVFNYLHATAFQGTPLAQAVEGPSENVRKLSRADLTE
                     YLSTHYKAPRMVLAAAGGVEHQQLLDLAQKHLGGIPWTYAEDAVPTLTPCRFTGSEIR
                     HRDDALPFAHVAIAVEGPGWASPDNVALQVANAIIGHYDCTYGGGVHLSSPLASGAVA
                     NKLCQSFQTFSICYAETGLLGAHFVCDRMKIDDMMFVLQGQWMRLCTSATESEVARGK
                     NILRNALVSHLDGTTPVCEDIGRSLLTYGRRIPLAEWESRIAEVDASVVREICSKYIY
                     DQCPAVAGYGPIEQLPDYNRIRSGMFWLRF"
     exon            96..236
                     /gene="UQCRC1"
                     /gene_synonym="D3S3191; PKNPY; QCR1; UQCR1"
                     /inference="alignment:Splign:2.1.0"
     exon            237..323
                     /gene="UQCRC1"
                     /gene_synonym="D3S3191; PKNPY; QCR1; UQCR1"
                     /inference="alignment:Splign:2.1.0"
     exon            324..453
                     /gene="UQCRC1"
                     /gene_synonym="D3S3191; PKNPY; QCR1; UQCR1"
                     /inference="alignment:Splign:2.1.0"
     exon            454..652
                     /gene="UQCRC1"
                     /gene_synonym="D3S3191; PKNPY; QCR1; UQCR1"
                     /inference="alignment:Splign:2.1.0"
     exon            653..732
                     /gene="UQCRC1"
                     /gene_synonym="D3S3191; PKNPY; QCR1; UQCR1"
                     /inference="alignment:Splign:2.1.0"
     exon            733..848
                     /gene="UQCRC1"
                     /gene_synonym="D3S3191; PKNPY; QCR1; UQCR1"
                     /inference="alignment:Splign:2.1.0"
     exon            849..992
                     /gene="UQCRC1"
                     /gene_synonym="D3S3191; PKNPY; QCR1; UQCR1"
                     /inference="alignment:Splign:2.1.0"
     exon            993..1153
                     /gene="UQCRC1"
                     /gene_synonym="D3S3191; PKNPY; QCR1; UQCR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1154..1239
                     /gene="UQCRC1"
                     /gene_synonym="D3S3191; PKNPY; QCR1; UQCR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1240..1328
                     /gene="UQCRC1"
                     /gene_synonym="D3S3191; PKNPY; QCR1; UQCR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1329..1404
                     /gene="UQCRC1"
                     /gene_synonym="D3S3191; PKNPY; QCR1; UQCR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1405..1595
                     /gene="UQCRC1"
                     /gene_synonym="D3S3191; PKNPY; QCR1; UQCR1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1575..1580
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UQCRC1"
                     /gene_synonym="D3S3191; PKNPY; QCR1; UQCR1"
                     /note="hexamer: AATAAA"
     polyA_site      1595
                     /gene="UQCRC1"
                     /gene_synonym="D3S3191; PKNPY; QCR1; UQCR1"
                     /note="major polyA site"
ORIGIN      
        1 gcaacagggc cgactgcagc tggaagatgg cggcgtccgt ggtctgtcgg gccgctaccg
       61 ccggggcaca agtgctattg cgcgcccgcc gctcgccggc cctgctgcgg acgccagcct
      121 tgcggagtac ggcaaccttc gctcaggcgc tccagttcgt gccggagacg caggttagcc
      181 tgctggacaa cggcctgcgt gtggcctccg agcagtcctc tcagcccact tgcacggtgg
      241 gagtgtggat tgatgttggc agccgttttg agactgagaa gaataatggg gcaggctact
      301 ttttggagca tctggctttc aagggaacaa agaatcggcc tggcagtgcc ctggagaagg
      361 aggtggagag catgggggcc catcttaatg cctacagcac ccgggagcac acagcttact
      421 acatcaaggc gctgtccaag gatctgccga aagctgtgga gctcctgggt gacattgtgc
      481 agaactgtag tctggaagac tcacagattg agaaggaacg tgatgtgatc ctgcgggaga
      541 tgcaggagaa tgatgcatct atgcgagatg tggtctttaa ctacctgcat gccacagcat
      601 tccagggcac acctctagcc caggctgtgg aggggcccag tgagaatgtc aggaagctgt
      661 ctcgtgcaga cttgaccgag tacctcagca cacattacaa ggcccctcga atggtgctgg
      721 cagcagctgg aggagtggag caccagcaac tgttagacct cgcccagaag cacctcggtg
      781 gcatcccatg gacatatgca gaggacgctg tgcccactct tactccatgc cgcttcactg
      841 gcagtgagat ccgccaccgt gatgatgctc taccttttgc ccacgtggcc attgcagtag
      901 agggtcctgg ctgggccagc ccggacaatg tggccttgca agtggccaat gccatcatcg
      961 gccactatga ctgcacttat ggtggtggcg tgcacctgtc cagcccactg gcttcaggtg
     1021 ctgtggccaa caagctatgc cagagtttcc agaccttcag catctgctat gcagagacgg
     1081 gcttgctggg tgcacacttt gtctgtgacc gaatgaaaat cgatgacatg atgttcgtcc
     1141 tgcaagggca gtggatgcgc ctgtgtacca gtgccacgga gagtgaggtg gcccggggca
     1201 aaaacatcct cagaaatgcc ctggtatctc atctagatgg cactactcct gtgtgtgagg
     1261 acatcggacg cagcctcctg acctatggcc gccgcatccc cctggctgaa tgggaaagcc
     1321 ggattgcgga ggtggatgcc agtgtggtac gtgagatctg ctccaagtac atctatgacc
     1381 agtgcccagc agtggctgga tatggcccca ttgagcagct cccagactac aaccggatcc
     1441 gtagcggcat gttctggctg cgcttctagg cgggaagcct atgtaagcaa gagggcaggg
     1501 ccggggtttg tggtcccccc cccaccacaa acacagcact tcggctcctc taacctgtgc
     1561 cacaggtgac caccaataaa atcctctgct gagaa
//
