LOCUS       NM_032340               1284 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens ubiquinol-cytochrome c reductase complex assembly
            factor 2 (UQCC2), mRNA.
ACCESSION   NM_032340
VERSION     NM_032340.4
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 1284)
  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 1284)
  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 1284)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 1284)
  AUTHORS   Wanschers,B.F., Szklarczyk,R., van den Brand,M.A., Jonckheere,A.,
            Suijskens,J., Smeets,R., Rodenburg,R.J., Stephan,K., Helland,I.B.,
            Elkamil,A., Rootwelt,T., Ott,M., van den Heuvel,L., Nijtmans,L.G.
            and Huynen,M.A.
  TITLE     A mutation in the human CBP4 ortholog UQCC3 impairs complex III
            assembly, activity and cytochrome b stability
  JOURNAL   Hum Mol Genet 23 (23), 6356-6365 (2014)
   PUBMED   25008109
  REMARK    GeneRIF: UQCC3 is reduced in cells depleted for the complex III
            assembly factors UQCC1 and UQCC2. Conversely, absence of UQCC3 in
            patient cells does not affect UQCC1 and UQCC2.
REFERENCE   5  (bases 1 to 1284)
  AUTHORS   Tucker,E.J., Wanschers,B.F., Szklarczyk,R., Mountford,H.S.,
            Wijeyeratne,X.W., van den Brand,M.A., Leenders,A.M.,
            Rodenburg,R.J., Reljic,B., Compton,A.G., Frazier,A.E., Bruno,D.L.,
            Christodoulou,J., Endo,H., Ryan,M.T., Nijtmans,L.G., Huynen,M.A.
            and Thorburn,D.R.
  TITLE     Mutations in the UQCC1-interacting protein, UQCC2, cause human
            complex III deficiency associated with perturbed cytochrome b
            protein expression
  JOURNAL   PLoS Genet 9 (12), e1004034 (2013)
   PUBMED   24385928
  REMARK    GeneRIF: This work provides insight into human complex III assembly
            by establishing that UQCC1 and UQCC2 are complex III assembly
            factors participating in cytochrome b biogenesis.
REFERENCE   6  (bases 1 to 1284)
  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   7  (bases 1 to 1284)
  AUTHORS   Cambier,L., Rassam,P., Chabi,B., Mezghenna,K., Gross,R., Eveno,E.,
            Auffray,C., Wrutniak-Cabello,C., Lajoix,A.D. and Pomies,P.
  TITLE     M19 modulates skeletal muscle differentiation and insulin secretion
            in pancreatic beta-cells through modulation of respiratory chain
            activity
  JOURNAL   PLoS One 7 (2), e31815 (2012)
   PUBMED   22363741
  REMARK    GeneRIF: The function of M19, a novel mitochondrial nucleoid
            protein, is characterized in muscle and pancreatic beta-cells.
REFERENCE   8  (bases 1 to 1284)
  AUTHORS   Sumitani,M., Kasashima,K., Ohta,E., Kang,D. and Endo,H.
  TITLE     Association of a novel mitochondrial protein M19 with mitochondrial
            nucleoids
  JOURNAL   J Biochem 146 (5), 725-732 (2009)
   PUBMED   19643811
  REMARK    GeneRIF: M19 associates with the nucleoid and likely regulates the
            organization and metabolism of mtDNA.
REFERENCE   9  (bases 1 to 1284)
  AUTHORS   Mungall,A.J., Palmer,S.A., Sims,S.K., Edwards,C.A., Ashurst,J.L.,
            Wilming,L., Jones,M.C., Horton,R., Hunt,S.E., Scott,C.E.,
            Gilbert,J.G., Clamp,M.E., Bethel,G., Milne,S., Ainscough,R.,
            Almeida,J.P., Ambrose,K.D., Andrews,T.D., Ashwell,R.I.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Barker,D.J.,
            Barlow,K.F., Bates,K., Beare,D.M., Beasley,H., Beasley,O.,
            Bird,C.P., Blakey,S., Bray-Allen,S., Brook,J., Brown,A.J.,
            Brown,J.Y., Burford,D.C., Burrill,W., Burton,J., Carder,C.,
            Carter,N.P., Chapman,J.C., Clark,S.Y., Clark,G., Clee,C.M.,
            Clegg,S., Cobley,V., Collier,R.E., Collins,J.E., Colman,L.K.,
            Corby,N.R., Coville,G.J., Culley,K.M., Dhami,P., Davies,J.,
            Dunn,M., Earthrowl,M.E., Ellington,A.E., Evans,K.A., Faulkner,L.,
            Francis,M.D., Frankish,A., Frankland,J., French,L., Garner,P.,
            Garnett,J., Ghori,M.J., Gilby,L.M., Gillson,C.J., Glithero,R.J.,
            Grafham,D.V., Grant,M., Gribble,S., Griffiths,C., Griffiths,M.,
            Hall,R., Halls,K.S., Hammond,S., Harley,J.L., Hart,E.A.,
            Heath,P.D., Heathcott,R., Holmes,S.J., Howden,P.J., Howe,K.L.,
            Howell,G.R., Huckle,E., Humphray,S.J., Humphries,M.D., Hunt,A.R.,
            Johnson,C.M., Joy,A.A., Kay,M., Keenan,S.J., Kimberley,A.M.,
            King,A., Laird,G.K., Langford,C., Lawlor,S., Leongamornlert,D.A.,
            Leversha,M., Lloyd,C.R., Lloyd,D.M., Loveland,J.E., Lovell,J.,
            Martin,S., Mashreghi-Mohammadi,M., Maslen,G.L., Matthews,L.,
            McCann,O.T., McLaren,S.J., McLay,K., McMurray,A., Moore,M.J.,
            Mullikin,J.C., Niblett,D., Nickerson,T., Novik,K.L., Oliver,K.,
            Overton-Larty,E.K., Parker,A., Patel,R., Pearce,A.V., Peck,A.I.,
            Phillimore,B., Phillips,S., Plumb,R.W., Porter,K.M., Ramsey,Y.,
            Ranby,S.A., Rice,C.M., Ross,M.T., Searle,S.M., Sehra,H.K.,
            Sheridan,E., Skuce,C.D., Smith,S., Smith,M., Spraggon,L.,
            Squares,S.L., Steward,C.A., Sycamore,N., Tamlyn-Hall,G., Tester,J.,
            Theaker,A.J., Thomas,D.W., Thorpe,A., Tracey,A., Tromans,A.,
            Tubby,B., Wall,M., Wallis,J.M., West,A.P., White,S.S.,
            Whitehead,S.L., Whittaker,H., Wild,A., Willey,D.J., Wilmer,T.E.,
            Wood,J.M., Wray,P.W., Wyatt,J.C., Young,L., Younger,R.M.,
            Bentley,D.R., Coulson,A., Durbin,R., Hubbard,T., Sulston,J.E.,
            Dunham,I., Rogers,J. and Beck,S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC006007.1, BI604191.1,
            CN261727.1 and AI688269.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_032340.3.
            
            Summary: This gene encodes a nucleoid protein localized to the
            mitochondria inner membrane. The encoded protein affects regulation
            of insulin secretion, mitochondrial ATP production, and myogenesis
            through modulation of mitochondrial respiratory chain activity.
            [provided by RefSeq, Oct 2012].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189652.105486.1,
                                           SRR1660803.213719.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2151119, SAMEA2153932
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000607484.6/
                                                  ENSP00000476140.1
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-479               BC006007.1         28-506
            480-702             BI604191.1         481-703
            703-1127            CN261727.1         101-525
            1128-1284           AI688269.1         3-159               c
FEATURES             Location/Qualifiers
     source          1..1284
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.31"
     gene            1..1284
                     /gene="UQCC2"
                     /gene_synonym="bA6B20.2; C6orf125; C6orf126; Cbp6; M19;
                     MC3DN7; MNF1"
                     /note="ubiquinol-cytochrome c reductase complex assembly
                     factor 2"
                     /db_xref="GeneID:84300"
                     /db_xref="HGNC:HGNC:21237"
                     /db_xref="MIM:614461"
     exon            1..152
                     /gene="UQCC2"
                     /gene_synonym="bA6B20.2; C6orf125; C6orf126; Cbp6; M19;
                     MC3DN7; MNF1"
                     /inference="alignment:Splign:2.1.0"
     CDS             15..395
                     /gene="UQCC2"
                     /gene_synonym="bA6B20.2; C6orf125; C6orf126; Cbp6; M19;
                     MC3DN7; MNF1"
                     /EC_number="2.7.4.21"
                     /note="cytochrome B protein synthesis 6 homolog;
                     mitochondrial protein M19; breast cancer-associated
                     protein SGA-81M; mitochondrial nucleoid factor 1"
                     /codon_start=1
                     /product="ubiquinol-cytochrome c reductase complex
                     assembly factor 2"
                     /protein_id="NP_115716.1"
                     /db_xref="CCDS:CCDS4784.1"
                     /db_xref="GeneID:84300"
                     /db_xref="HGNC:HGNC:21237"
                     /db_xref="MIM:614461"
                     /translation="MAASRYRRFLKLCEEWPVDETKRGRDLGAYLRQRVAQAFREGEN
                     TQVAEPEACDQMYESLARLHSNYYKHKYPRPRDTSFSGLSLEEYKLILSTDTLEELKE
                     IDKGMWKKLQEKFAPKGPEEDHKA"
     exon            153..227
                     /gene="UQCC2"
                     /gene_synonym="bA6B20.2; C6orf125; C6orf126; Cbp6; M19;
                     MC3DN7; MNF1"
                     /inference="alignment:Splign:2.1.0"
     exon            228..297
                     /gene="UQCC2"
                     /gene_synonym="bA6B20.2; C6orf125; C6orf126; Cbp6; M19;
                     MC3DN7; MNF1"
                     /inference="alignment:Splign:2.1.0"
     exon            298..1284
                     /gene="UQCC2"
                     /gene_synonym="bA6B20.2; C6orf125; C6orf126; Cbp6; M19;
                     MC3DN7; MNF1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      454..459
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UQCC2"
                     /gene_synonym="bA6B20.2; C6orf125; C6orf126; Cbp6; M19;
                     MC3DN7; MNF1"
                     /note="hexamer: AATAAA"
     polyA_site      480
                     /gene="UQCC2"
                     /gene_synonym="bA6B20.2; C6orf125; C6orf126; Cbp6; M19;
                     MC3DN7; MNF1"
                     /note="major polyA site"
     regulatory      1257..1262
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UQCC2"
                     /gene_synonym="bA6B20.2; C6orf125; C6orf126; Cbp6; M19;
                     MC3DN7; MNF1"
                     /note="hexamer: AATAAA"
     polyA_site      1284
                     /gene="UQCC2"
                     /gene_synonym="bA6B20.2; C6orf125; C6orf126; Cbp6; M19;
                     MC3DN7; MNF1"
ORIGIN      
        1 acgcggggcc caagatggcg gccagccggt accggcgttt tcttaagctc tgtgaggaat
       61 ggccagtgga cgagaccaaa cggggccggg acttgggcgc ttacctgcga cagcgggtag
      121 cacaggcctt tcgggaggga gagaataccc aggttgcaga gcctgaggcc tgtgatcaga
      181 tgtacgagag cttagcgcga ctccattcaa actactacaa acacaagtac cctcgcccca
      241 gagacaccag cttcagtggc ctgtcgttgg aagagtacaa gctgatcctg tccacagaca
      301 ccttggaaga gcttaaggaa atagataaag gcatgtggaa gaaactgcag gagaagtttg
      361 cccccaaggg tcctgaggag gatcataagg cctgagctca ggccttacct cgtgcacata
      421 cctaggtgtg gagtcttgta cattgccatc gtcaataaaa ctgccccagt ttccccttga
      481 ccttacggtt tgggaatctc ctctagcttt cccagaaagg aagcccttgc tgctctaaag
      541 aaagtttcag cctgagaagg gatggtgatt gagctatctg ctgtgactgc tgctcagggt
      601 agggaaatct cctggggaga ggaaatgcag gtttccctct gggcctgatg agggtaatgg
      661 ggcctcggca caaggtgctt cctgcattgc cacgggagcc cccgcccctc tggcacgggt
      721 ctggtgtctc ctggcaagat actcaggctc ccttttgttg taggagctcc tgggaggaag
      781 ccaaaaatag cagtaaatac tgaaaagggc atcctgttgc aaacagaaag cagtagggag
      841 gtgtgaggcc gagagaggca aaaagcctgc ttggccctca tccccactga ctcagagaag
      901 gatggacctt aggcctctat ccctgacctt gcaaaaaccc acattgccca gttggcttaa
      961 gggacaggga agctatagac aggccttggc caagcggggc ctcagctgca gttggcttca
     1021 gcactgtggg caggttctgt aggtggccac aagtcagagg ccctgctggc tgaggacaca
     1081 cacagggtca cctcattatt ccatggaacc ttggctctta ctgatattga gcatccttct
     1141 ctctggaacc gtgagggaca gggctgggcc cacagcggcc ctggtgggta caaagtggaa
     1201 gtgggttctt aacctcgtct gtgtctagac tcctcaggat gttctgaaat gcataaaata
     1261 aaatcgacag gactgccgta gaaa
//
