LOCUS       NM_018244               2267 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens ubiquinol-cytochrome c reductase complex assembly
            factor 1 (UQCC1), transcript variant 1, mRNA.
ACCESSION   NM_018244
VERSION     NM_018244.5
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 2267)
  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 2267)
  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 2267)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 2267)
  AUTHORS   Sun,Y., Wang,C., Hao,Z., Dai,J., Chen,D., Xu,Z., Shi,D., Mao,P.,
            Teng,H., Gao,X., Hu,Z., Shen,H. and Jiang,Q.
  TITLE     A common variant of ubiquinol-cytochrome c reductase complex is
            associated with DDH
  JOURNAL   PLoS One 10 (4), e0120212 (2015)
   PUBMED   25848760
  REMARK    GeneRIF: Single nucleotide polymorphism in UQCC is associated with
            developmental dysplasia of the hip.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2267)
  AUTHORS   He,M., Xu,M., Zhang,B., Liang,J., Chen,P., Lee,J.Y., Johnson,T.A.,
            Li,H., Yang,X., Dai,J., Liang,L., Gui,L., Qi,Q., Huang,J., Li,Y.,
            Adair,L.S., Aung,T., Cai,Q., Cheng,C.Y., Cho,M.C., Cho,Y.S.,
            Chu,M., Cui,B., Gao,Y.T., Go,M.J., Gu,D., Gu,W., Guo,H., Hao,Y.,
            Hong,J., Hu,Z., Hu,Y., Huang,J., Hwang,J.Y., Ikram,M.K., Jin,G.,
            Kang,D.H., Khor,C.C., Kim,B.J., Kim,H.T., Kubo,M., Lee,J., Lee,J.,
            Lee,N.R., Li,R., Li,J., Liu,J., Longe,J., Lu,W., Lu,X., Miao,X.,
            Okada,Y., Ong,R.T., Qiu,G., Seielstad,M., Sim,X., Song,H.,
            Takeuchi,F., Tanaka,T., Taylor,P.R., Wang,L., Wang,W., Wang,Y.,
            Wu,C., Wu,Y., Xiang,Y.B., Yamamoto,K., Yang,H., Liao,M., Yokota,M.,
            Young,T., Zhang,X., Kato,N., Wang,Q.K., Zheng,W., Hu,F.B., Lin,D.,
            Shen,H., Teo,Y.Y., Mo,Z., Wong,T.Y., Lin,X., Mohlke,K.L., Ning,G.,
            Tsunoda,T., Han,B.G., Shu,X.O., Tai,E.S., Wu,T. and Qi,L.
  TITLE     Meta-analysis of genome-wide association studies of adult height in
            East Asians identifies 17 novel loci
  JOURNAL   Hum Mol Genet 24 (6), 1791-1800 (2015)
   PUBMED   25429064
REFERENCE   6  (bases 1 to 2267)
  AUTHORS   Abdul-Al,H.M., Wang,G., Makhlouf,H.R. and Goodman,Z.D.
  TITLE     Fibrolamellar hepatocellular carcinoma: an immunohistochemical
            comparison with conventional hepatocellular carcinoma
  JOURNAL   Int J Surg Pathol 18 (5), 313-318 (2010)
   PUBMED   20444731
  REMARK    GeneRIF: GPC3 was significantly more often and more strongly
            expressed in HCCs (72%) than in FLCs (17%).
REFERENCE   7  (bases 1 to 2267)
  AUTHORS   Roodhart,J.M., Langenberg,M.H., Vermaat,J.S., Lolkema,M.P.,
            Baars,A., Giles,R.H., Witteveen,E.O. and Voest,E.E.
  TITLE     Late release of circulating endothelial cells and endothelial
            progenitor cells after chemotherapy predicts response and survival
            in cancer patients
  JOURNAL   Neoplasia 12 (1), 87-94 (2010)
   PUBMED   20072657
  REMARK    GeneRIF: Data show that a significant increase in plasma
            SDF-1alpha, and an immediate decrease in plasma VEGF and FGF levels
            after chemotherapy.
REFERENCE   8  (bases 1 to 2267)
  AUTHORS   Lettre,G., Jackson,A.U., Gieger,C., Schumacher,F.R., Berndt,S.I.,
            Sanna,S., Eyheramendy,S., Voight,B.F., Butler,J.L., Guiducci,C.,
            Illig,T., Hackett,R., Heid,I.M., Jacobs,K.B., Lyssenko,V., Uda,M.,
            Boehnke,M., Chanock,S.J., Groop,L.C., Hu,F.B., Isomaa,B., Kraft,P.,
            Peltonen,L., Salomaa,V., Schlessinger,D., Hunter,D.J., Hayes,R.B.,
            Abecasis,G.R., Wichmann,H.E., Mohlke,K.L. and Hirschhorn,J.N.
  CONSRTM   Diabetes Genetics Initiative; FUSION; KORA; Prostate, Lung
            Colorectal and Ovarian Cancer Screening Trial; Nurses' Health
            Study; SardiNIA
  TITLE     Identification of ten loci associated with height highlights new
            biological pathways in human growth
  JOURNAL   Nat Genet 40 (5), 584-591 (2008)
   PUBMED   18391950
REFERENCE   9  (bases 1 to 2267)
  AUTHORS   Sanna,S., Jackson,A.U., Nagaraja,R., Willer,C.J., Chen,W.M.,
            Bonnycastle,L.L., Shen,H., Timpson,N., Lettre,G., Usala,G.,
            Chines,P.S., Stringham,H.M., Scott,L.J., Dei,M., Lai,S., Albai,G.,
            Crisponi,L., Naitza,S., Doheny,K.F., Pugh,E.W., Ben-Shlomo,Y.,
            Ebrahim,S., Lawlor,D.A., Bergman,R.N., Watanabe,R.M., Uda,M.,
            Tuomilehto,J., Coresh,J., Hirschhorn,J.N., Shuldiner,A.R.,
            Schlessinger,D., Collins,F.S., Davey Smith,G., Boerwinkle,E.,
            Cao,A., Boehnke,M., Abecasis,G.R. and Mohlke,K.L.
  TITLE     Common variants in the GDF5-UQCC region are associated with
            variation in human height
  JOURNAL   Nat Genet 40 (2), 198-203 (2008)
   PUBMED   18193045
REFERENCE   10 (bases 1 to 2267)
  AUTHORS   Vetter,K. and Wurst,W.
  TITLE     Expression of a novel mouse gene 'mbFZb' in distinct regions of the
            developing nervous system and the adult brain
  JOURNAL   Mech Dev 100 (1), 123-125 (2001)
   PUBMED   11118897
  REMARK    GeneRIF: This paper describes the cloning of the human UQCC gene.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC119013.1, AL121752.13 and
            AY050659.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_018244.4.
            
            Summary: This gene encodes a transmembrane protein that is
            structurally similar to the mouse basic fibroblast growth factor
            repressed ZIC-binding protein. In mouse this protein may be
            involved in fibroblast growth factor regulated growth control. In
            humans, polymorphisms in this gene are associated with variation in
            human height and osteoarthritis. Alternate splicing results in
            multiple transcript variants. [provided by RefSeq, May 2010].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            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 :: AK001712.1, SRR1803617.94929.1
                                           [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                 :: ENST00000374385.10/
                                                  ENSP00000363506.5
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-161               BC119013.1         36-196
            162-162             AL121752.13        43203-43203         c
            163-2095            BC119013.1         198-2130
            2096-2267           AY050659.1         2266-2437
FEATURES             Location/Qualifiers
     source          1..2267
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.22"
     gene            1..2267
                     /gene="UQCC1"
                     /gene_synonym="BFZB; C20orf44; CBP3; UQCC"
                     /note="ubiquinol-cytochrome c reductase complex assembly
                     factor 1"
                     /db_xref="GeneID:55245"
                     /db_xref="HGNC:HGNC:15891"
                     /db_xref="MIM:611797"
     exon            1..34
                     /gene="UQCC1"
                     /gene_synonym="BFZB; C20orf44; CBP3; UQCC"
                     /inference="alignment:Splign:2.1.0"
     CDS             11..910
                     /gene="UQCC1"
                     /gene_synonym="BFZB; C20orf44; CBP3; UQCC"
                     /note="isoform a is encoded by transcript variant 1; basic
                     FGF-repressed Zic-binding protein; ubiquinol-cytochrome c
                     reductase complex chaperone CBP3 homolog; cytochrome B
                     protein synthesis 3 homolog; bFGF-repressed Zic-binding
                     protein"
                     /codon_start=1
                     /product="ubiquinol-cytochrome c reductase complex
                     assembly factor 1 isoform a"
                     /protein_id="NP_060714.3"
                     /db_xref="CCDS:CCDS13252.1"
                     /db_xref="GeneID:55245"
                     /db_xref="HGNC:HGNC:15891"
                     /db_xref="MIM:611797"
                     /translation="MALLVRVLRNQTSISQWVPVCSRLIPVSPTQGQGDRALSRTSQW
                     PQMSQSRACGGSEQIPGIDIQLNRKYHTTRKLSTTKDSPQPVEEKVGAFTKIIEAMGF
                     TGPLKYSKWKIKIAALRMYTSCVEKTDFEEFFLRCQMPDTFNSWFLITLLHVWMCLVR
                     MKQEGRSGKYMCRIIVHFMWEDVQQRGRVMGVNPYILKKNMILMTNHFYAAILGYDEG
                     ILSDDHGLAAALWRTFFNRKCEDPRHLELLVEYVRKQIQYLDSMNGEDLLLTGEVSWR
                     PLVEKNPQSILKPHSPTYNDEGL"
     exon            35..139
                     /gene="UQCC1"
                     /gene_synonym="BFZB; C20orf44; CBP3; UQCC"
                     /inference="alignment:Splign:2.1.0"
     exon            140..235
                     /gene="UQCC1"
                     /gene_synonym="BFZB; C20orf44; CBP3; UQCC"
                     /inference="alignment:Splign:2.1.0"
     exon            236..343
                     /gene="UQCC1"
                     /gene_synonym="BFZB; C20orf44; CBP3; UQCC"
                     /inference="alignment:Splign:2.1.0"
     exon            344..416
                     /gene="UQCC1"
                     /gene_synonym="BFZB; C20orf44; CBP3; UQCC"
                     /inference="alignment:Splign:2.1.0"
     exon            417..474
                     /gene="UQCC1"
                     /gene_synonym="BFZB; C20orf44; CBP3; UQCC"
                     /inference="alignment:Splign:2.1.0"
     exon            475..583
                     /gene="UQCC1"
                     /gene_synonym="BFZB; C20orf44; CBP3; UQCC"
                     /inference="alignment:Splign:2.1.0"
     exon            584..661
                     /gene="UQCC1"
                     /gene_synonym="BFZB; C20orf44; CBP3; UQCC"
                     /inference="alignment:Splign:2.1.0"
     exon            662..775
                     /gene="UQCC1"
                     /gene_synonym="BFZB; C20orf44; CBP3; UQCC"
                     /inference="alignment:Splign:2.1.0"
     exon            776..2267
                     /gene="UQCC1"
                     /gene_synonym="BFZB; C20orf44; CBP3; UQCC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2243..2248
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UQCC1"
                     /gene_synonym="BFZB; C20orf44; CBP3; UQCC"
                     /note="hexamer: AATAAA"
     polyA_site      2267
                     /gene="UQCC1"
                     /gene_synonym="BFZB; C20orf44; CBP3; UQCC"
                     /note="major polyA site"
ORIGIN      
        1 attgaggaac atggcgttgc tggtgcgagt ccttaggaac cagactagca tttctcagtg
       61 ggttccagta tgcagccgat tgatacctgt gtctcctacc caaggacagg gggacagggc
      121 tctgtctcgc acttcccagt ggccccagat gagccagtcc cgagcatgtg gtggatcaga
      181 acagattcct ggaatagaca tacagctgaa taggaagtat cacaccacac gtaagctttc
      241 tactaccaaa gattccccac agcctgttga ggagaaggtt ggtgctttca caaagataat
      301 agaagccatg ggattcacgg gacctttgaa atacagtaaa tggaagatta agattgcggc
      361 cctgcgcatg tatactagct gtgtggagaa aactgacttc gaggaattct ttctaaggtg
      421 tcagatgcct gatacattca attcatggtt tcttataacc ctactccacg tctggatgtg
      481 tctagtccga atgaagcagg aaggccggag tgggaagtac atgtgtcgta tcatagttca
      541 ttttatgtgg gaggatgttc agcagcgcgg cagagtcatg ggggttaatc cctatatcct
      601 gaagaagaac atgatcctca tgacaaatca tttctatgca gcgatcttgg gatatgatga
      661 ggggatcctt tcagatgatc atgggctggc cgctgccctc tggagaacct tcttcaaccg
      721 gaaatgtgaa gaccctcgac atcttgaatt gctggtagag tatgtgagga aacagataca
      781 gtacctggac tccatgaacg gggaggatct gcttctgaca ggggaggtga gctggcgccc
      841 tctagtggag aagaatcctc agagcatcct gaagccccat tctccgactt acaacgacga
      901 gggactttga tgggctgggc cctccgcacg gcccgccagc tggcttcgag gaacctccag
      961 gagagaagtg cctgttggtc caggaccctg cagaaagtgg cctgaactga cctctgaaca
     1021 gcatctgtca aatacctggc cccatttgtg ttgagtttcc tcttagtgtg cccaggagtc
     1081 tgatctgctg gggtacaggg ctgggagaac ccctagctct cccggggtgt cctctccctt
     1141 aggggaagcc ccgagtgaga gtcccccagc acacactccc caaccccctc cagcaactac
     1201 atgtgactga tagcttttcc caaaggccaa ggaagggatg gtgtaggttc aaaagggaaa
     1261 ccccccaggg cctgctgtgg cctaggagca gattgtaatg ctgccgagtc cggtcggtga
     1321 ccacgcgttg tccctcggct ttcagccatg gggttgagtt ggccattaaa agaaacagag
     1381 acttctctct gccatggccc ttctttattc cagggactta gaaacttgcc tgagatggtg
     1441 gacgcagtaa tgagggcacc gcgcagctca gttagagacg gagaaaggga agaggctggg
     1501 atggtctctg ctgctcttgc ctctagttca tggagatgtg tctctgttca ggccaagata
     1561 cagccagcca ggcctgtcgt ctgggaccca ggaggcctct gatgaccaag ggctttcaca
     1621 tcctaagtca tttggaagga ggccttgaga acaaagtcac ctttgtcact cccagtgaac
     1681 tgaatgagga acatgctgtc tcctgtcttg gcctcccctt tcatgagata ctggggagaa
     1741 gagaacattc ctcctggctt agttgtagca gacccagacc tgtgcccagc tttggtcccc
     1801 cttcccaact tctgaagcac gtgctgcaga gccaccttgg tctgagcacc tgaggaccag
     1861 cccctcctcc ctcagtgcgg gtcatctctt gggggatttt cttaaagtga agaaaggggg
     1921 tggggaacca tattgcccct ccctccccca tcaaacttcc ttcatttaac ttgctataaa
     1981 atgagtcata taaagaaact ctatatgggt gaggtatatc ccacttctgt gaaaacatta
     2041 caaatcaaac cgcttctctc agtttattta agatgctttt gttgcgagcg gagctctaga
     2101 gtgaagcctc ctgtgtgtgt gtgagataat aacaccttgt aactcattac agctgggcac
     2161 tatttacata aaccagagct gagccaggca ggaatttgct gattaattta tttttaatgg
     2221 agtgaagtat accatgcacc aaaataaact ttactgtgtg tacctaa
//
