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2019-03-25 08:19:23, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001199975            4953 bp    mRNA    linear   PRI 07-JUL-2013
DEFINITION  Homo sapiens ubiquinol-cytochrome c reductase binding protein
            (UQCRB), transcript variant 2, mRNA.
ACCESSION   NM_001199975
VERSION     NM_001199975.2  GI:363498930
KEYWORDS    RefSeq.
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 4953)
  AUTHORS   Lascorz,J., Bevier,M., Schonfels,W.V., Kalthoff,H., Aselmann,H.,
            Beckmann,J., Egberts,J., Buch,S., Becker,T., Schreiber,S.,
            Hampe,J., Hemminki,K., Forsti,A. and Schafmayer,C.
  TITLE     Polymorphisms in the mitochondrial oxidative phosphorylation chain
            genes as prognostic markers for colorectal cancer
  JOURNAL   BMC Med. Genet. 13, 31 (2012)
   PUBMED   22545919
  REMARK    GeneRIF: Two SNPs in the 3' untranslated region of UQCRB (complex
            III), rs7836698 and rs10504961, were associated with overall
            survival.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4953)
  AUTHORS   Jung,H.J., Kim,K.H., Kim,N.D., Han,G. and Kwon,H.J.
  TITLE     Identification of a novel small molecule targeting UQCRB of
            mitochondrial complex III and its anti-angiogenic activity
  JOURNAL   Bioorg. Med. Chem. Lett. 21 (3), 1052-1056 (2011)
   PUBMED   21215626
REFERENCE   3  (bases 1 to 4953)
  AUTHORS   Goto,K., Oda,H., Kondo,H., Igaki,M., Suzuki,A., Tsuchiya,S.,
            Murase,T., Hase,T., Fujiya,H., Matsumoto,I., Naito,H., Sugiura,T.,
            Ohira,Y. and Yoshioka,T.
  TITLE     Responses of muscle mass, strength and gene transcripts to
            long-term heat stress in healthy human subjects
  JOURNAL   Eur. J. Appl. Physiol. 111 (1), 17-27 (2011)
   PUBMED   20803152
REFERENCE   4  (bases 1 to 4953)
  AUTHORS   Pihlajamaki,J., Boes,T., Kim,E.Y., Dearie,F., Kim,B.W.,
            Schroeder,J., Mun,E., Nasser,I., Park,P.J., Bianco,A.C.,
            Goldfine,A.B. and Patti,M.E.
  TITLE     Thyroid hormone-related regulation of gene expression in human
            fatty liver
  JOURNAL   J. Clin. Endocrinol. Metab. 94 (9), 3521-3529 (2009)
   PUBMED   19549744
REFERENCE   5  (bases 1 to 4953)
  AUTHORS   Haut,S., Brivet,M., Touati,G., Rustin,P., Lebon,S.,
            Garcia-Cazorla,A., Saudubray,J.M., Boutron,A., Legrand,A. and
            Slama,A.
  TITLE     A deletion in the human QP-C gene causes a complex III deficiency
            resulting in hypoglycaemia and lactic acidosis
  JOURNAL   Hum. Genet. 113 (2), 118-122 (2003)
   PUBMED   12709789
REFERENCE   6  (bases 1 to 4953)
  AUTHORS   Malaney,S., Heng,H.H., Tsui,L.C., Shi,X.M. and Robinson,B.H.
  TITLE     Localization of the human gene encoding the 13.3-kDa subunit of
            mitochondrial complex III (UQCRB) to 8q22 by in situ hybridization
  JOURNAL   Cytogenet. Cell Genet. 73 (4), 297-299 (1996)
   PUBMED   8751380
REFERENCE   7  (bases 1 to 4953)
  AUTHORS   Hosokawa,Y., Suzuki,H., Nishikimi,M., Matsukage,A., Yoshida,M.C.
            and Ozawa,T.
  TITLE     Chromosomal assignment of the gene for the ubiquinone-binding
            protein of human mitochondrial cytochrome bc1 complex
  JOURNAL   Biochem. Int. 21 (1), 41-44 (1990)
   PUBMED   2167087
REFERENCE   8  (bases 1 to 4953)
  AUTHORS   Suzuki,H., Hosokawa,Y., Toda,H., Nishikimi,M. and Ozawa,T.
  TITLE     Isolation of a single nuclear gene encoding human
            ubiquinone-binding protein in complex III of mitochondrial
            respiratory chain
  JOURNAL   Biochem. Biophys. Res. Commun. 161 (1), 371-378 (1989)
   PUBMED   2543413
REFERENCE   9  (bases 1 to 4953)
  AUTHORS   Suzuki,H., Hosokawa,Y., Toda,H., Nishikimi,M. and Ozawa,T.
  TITLE     Cloning and sequencing of a cDNA for human mitochondrial
            ubiquinone-binding protein of complex III
  JOURNAL   Biochem. Biophys. Res. Commun. 156 (2), 987-994 (1988)
   PUBMED   3056408
REFERENCE   10 (bases 1 to 4953)
  AUTHORS   Wakabayashi,S., Takao,T., Shimonishi,Y., Kuramitsu,S.,
            Matsubara,H., Wang,T., Zhang,Z. and King,T.E.
  TITLE     Complete amino acid sequence of the ubiquinone binding protein
            (QP-C), a protein similar to the 14,000-dalton subunit of the yeast
            ubiquinol-cytochrome c reductase complex
  JOURNAL   J. Biol. Chem. 260 (1), 337-343 (1985)
   PUBMED   2981208
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP003465.2, BI547559.1,
            AK307085.1, BC005230.1 and AI365233.1.
            On Dec 15, 2011 this sequence version replaced gi:316983135.
            
            Summary: This gene encodes a subunit of the ubiquinol-cytochrome c
            oxidoreductase complex, which consists of one mitochondrial-encoded
            and 10 nuclear-encoded subunits. The protein encoded by this gene
            binds ubiquinone and participates in the transfer of electrons when
            ubiquinone is bound. This protein plays an important role in
            hypoxia-induced angiogenesis through mitochondrial reactive oxygen
            species-mediated signaling. Mutations in this gene are associated
            with mitochondrial complex III deficiency. Alternatively spliced
            transcript variants have been found for this gene. Related
            pseudogenes have been identified on chromosomes 1, 5 and X.
            [provided by RefSeq, Dec 2011].
            
            Transcript Variant: This variant (2) has an additional exon in its
            5' UTR, which results in the use of a downstream in-frame start
            codon, compared to variant 1. The encoded isoform (2) is shorter at
            the N-terminus, compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript 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 :: AK307085.1, DA110503.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           ERS025081, ERS025082 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-6                 AP003465.2         120874-120879       c
            7-91                BI547559.1         8-92
            92-270              AK307085.1         1-179
            271-1103            BC005230.1         106-938
            1104-4533           AP003465.2         112321-115750       c
            4534-4953           AI365233.1         1-420               c
FEATURES             Location/Qualifiers
     source          1..4953
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q22"
     gene            1..4953
                     /gene="UQCRB"
                     /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
                     UQPC"
                     /note="ubiquinol-cytochrome c reductase binding protein"
                     /db_xref="GeneID:7381"
                     /db_xref="HGNC:12582"
                     /db_xref="MIM:191330"
     exon            1..123
                     /gene="UQCRB"
                     /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
                     UQPC"
                     /inference="alignment:Splign:1.39.8"
     exon            124..237
                     /gene="UQCRB"
                     /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
                     UQPC"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    183..185
                     /gene="UQCRB"
                     /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
                     UQPC"
                     /note="upstream in-frame stop codon"
     exon            238..309
                     /gene="UQCRB"
                     /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
                     UQPC"
                     /inference="alignment:Splign:1.39.8"
     STS             292..508
                     /gene="UQCRB"
                     /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
                     UQPC"
                     /standard_name="RH70819"
                     /db_xref="UniSTS:86635"
     exon            310..476
                     /gene="UQCRB"
                     /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
                     UQPC"
                     /inference="alignment:Splign:1.39.8"
     CDS             315..554
                     /gene="UQCRB"
                     /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
                     UQPC"
                     /EC_number="1.10.2.2"
                     /note="isoform 2 is encoded by transcript variant 2;
                     ubiquinol-cytochrome c reductase, complex III subunit VI;
                     cytochrome b-c1 complex subunit 7; ubiquinol-cytochrome c
                     reductase complex 14 kDa protein; complex III subunit 7;
                     complex III subunit VII; mitochondrial ubiquinone-binding
                     protein"
                     /codon_start=1
                     /product="cytochrome b-c1 complex subunit 7 isoform 2"
                     /protein_id="NP_001186904.1"
                     /db_xref="GI:316983136"
                     /db_xref="GeneID:7381"
                     /db_xref="HGNC:12582"
                     /db_xref="MIM:191330"
                     /translation="
MRDDTIYEDEDVKEAIRRLPENLYNDRMFRIKRALDLNLKHQILPKEQWTKYEEENFYLEPYLKEVIRERKEREEWAKK
"
     misc_feature    <315..515
                     /gene="UQCRB"
                     /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
                     UQPC"
                     /note="Ubiquinol-cytochrome C reductase complex 14kD
                     subunit; Region: UCR_14kD; pfam02271"
                     /db_xref="CDD:202184"
     variation       413
                     /gene="UQCRB"
                     /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
                     UQPC"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:11558865"
     variation       424
                     /gene="UQCRB"
                     /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
                     UQPC"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1804263"
     exon            477..4933
                     /gene="UQCRB"
                     /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
                     UQPC"
                     /inference="alignment:Splign:1.39.8"
     variation       523
                     /gene="UQCRB"
                     /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
                     UQPC"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1056268"
     STS             563..687
                     /gene="UQCRB"
                     /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
                     UQPC"
                     /standard_name="SHGC-12379"
                     /db_xref="UniSTS:79393"
     polyA_signal    653..658
                     /gene="UQCRB"
                     /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
                     UQPC"
     polyA_site      678
                     /gene="UQCRB"
                     /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
                     UQPC"
     polyA_signal    1081..1086
                     /gene="UQCRB"
                     /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
                     UQPC"
     polyA_site      1103
                     /gene="UQCRB"
                     /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
                     UQPC"
     STS             1259..1427
                     /gene="UQCRB"
                     /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
                     UQPC"
                     /standard_name="GDB:335751"
                     /db_xref="UniSTS:156601"
     STS             1341..1430
                     /gene="UQCRB"
                     /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
                     UQPC"
                     /standard_name="D8S2279"
                     /db_xref="UniSTS:473907"
     STS             3270..3406
                     /gene="UQCRB"
                     /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
                     UQPC"
                     /standard_name="WI-14041"
                     /db_xref="UniSTS:40871"
     polyA_signal    3754..3759
                     /gene="UQCRB"
                     /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
                     UQPC"
     polyA_site      3777
                     /gene="UQCRB"
                     /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
                     UQPC"
     polyA_signal    4509..4514
                     /gene="UQCRB"
                     /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
                     UQPC"
     polyA_site      4533
                     /gene="UQCRB"
                     /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
                     UQPC"
     polyA_signal    4903..4908
                     /gene="UQCRB"
                     /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
                     UQPC"
     polyA_site      4933
                     /gene="UQCRB"
                     /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
                     UQPC"
ORIGIN      
agcggcctttctctgttcgcgatgtgacgtaacgcgcctgcggactgggcccagcttgtcctctatgacttacccagaaggcaacgcttctctttctggtcaaaatggctggtaagcaggccgatattgaaggagtcttactaaattcaagacactgcttctgtgcgtgtttgggaactacatagaccagatctcaactcccattagctaactctgaccttgggtgggatcacttcttttcagcatcaggcaagtggctggatggtattcgaaaatggtattacaatgctgcaggattcaataaactggggttaatgcgagatgatacaatatacgaggatgaagatgtaaaagaagccataagaagacttcctgagaacctttataatgacaggatgtttcgcattaagagggcactggacctgaacttgaagcatcagatcttgcctaaagagcagtggaccaaatatgaagaggaaaatttctaccttgaaccgtatctgaaagaggttattcgggaaagaaaagaaagagaagaatgggcaaagaagtaatcatgtagttgaagtctgtggatgcagctgttatgaagatggttaaacttgaaacaaacaattttaagaattatttggtctgaagatgttttactttaaataaatgtctattgtaatggctggagtttttgaattccaaaccttatactgaataactactgaatccctttactgttaaatttttttccaaactttcaagatatatttagttgtgtttaactgctacttggagctcagaagccactttatcagttttcctcactggttggatagcctatcagtttatggaaggatataacttccgtaagttacatccttatggaagctactgaataaaagaagggggtatgcaccccctagtttgccaagattgagaaatagcctcttcactggtatgcaaacagatttgattttgcatcctatcatttaaaaagaaattatgtctgcaccccaacataggcatacttaagtaatatacatactcctgtgctaacatgtatactagaaaacaaaaagatgttagaaaaataaaagtataaagacaaatcatactgtccccatatcccagtgacttttccactttggaaatgattgttatgaagtttaagggttggatactagtcagttaaaagttttaagattatagggtaatttttaaaaatataaattagaatcattggcaaggcatggtggctcatgcctgtaatcccagcactttgggaggccgaggcgggcgggtcacctgaagtcaggaatttgagaccagcctggccaacatggtgaaaccctgtctctactaaaaatacaaaaaattagctaggcgtgatggtaggcacctgtaatcccagctactcgggaggctgagggaggagaattgcttgaccccaggaggtggaggttgcagtgagcctagatcacaccactgcacttcagcctgagcgacattgactgtctcaaaaaaaaaattaggattattcaatgttgtcatcatttccactcctaaattctgaaatgctttctttggtagaggtgagagtgtggagccacagctagtagagaaggaacagtaggacctgcagcctccctggttttccaggacaagtcattgctgtgtgtggcaggaatgccttacctcaaataacaaaacagtgtgaaaaacgaatttgtgttacatttaaagtttgtaaagcaatgagaaatgtgtgtatcataaagagcatctttaaatttttgctaaaatattagcctcttaaattctctaggaaccccctcccccgcttttttttttcctttcgctggtcgttatttttctaaacctatcctgaaatcatgtcaattttcttttgtatggttgaagacaactagatcacttgataatggttttgctcaggtcacattgtgacaaggttttaatgtagtcctactttgcagaaggaggccaagaagatgggctgtctagaaccccctttaaaagcatttgtctattcagaaaattttcctgagtagatctctgcaaaggctcttttaatagtgatttcaagatcacgtttgcaggactctggtctattcgttcagacgtctactgtgcacaattacaaggagactacaactgaggcatctcaaagagcactgtcaaggtgtgtagggagccgggtgggtggagggaggctgggctctgaccctagaaaccatgcttatgaatgctgttaatgtttaaagcaagcctaagggcactgctgaaggacaggggaacaaatagaactgaccaagactgaggtataacaggaacccccaggctatccacctgctcaaggtaaagtgtggtattacataaggcaacctctgattttgtaagagttcttcctaaagccaaagtgtatgcctattctatgtttccagattacttcattcttctaaatgagaacaagtgtgcaaaagttctttgaacactagatcaatgttttgtgttcattataaattatggttatcgtcctgcttgttatgaagactaagaaagtagatctagtatttggctcacacaggtgaatgggtgagaatttgttaatccatcagtgaagtcctttcatttgaaagagagggcctttctattatcaaaagccgtcctgtgtggaaaatcaccatgagagtgcctgaaacacaggcactctgcattgtcctgtagaccaaatctacattgtcctgtagtctggtctacattgtcctgtagaccgaatggtagagtgattcagagctaattctgggttagactgcacaggtctgaatctatttgctcactgtgtagtgctttaggaatacaatttaacctctccgtgcttcagtttgtttgtccctaagatagagctaatgatagaaacctacttcacccagttgtgaaaattaactgactgcatgtcaagcactaacagtttctggcatatagtatgcataatgtaaattatgtgctgagaagcgagaaagaataacttgggaaaacgctgaatatcatcaatgtcgaatagctaaccagtagctaaggtccaaggtctcctctcttccttctatgtggcactcttgtttctggttcatctactccccttgggtgtcacctccttgagtgaagtacctgctggagatgagaagagtggaactggatctgcatgacagctttgattaggatggagctaagacttggctatctccctgttttgtgttttggatgggtgacattttaaaactgccaatattcaaatcctgctaatttgctttgtacagtttaaaatgtttgatatcttttgttgtttaaagtttgagattggttttgaatatacagttttcctacatcttgaagaaagttatgtttgtttactctgaagtggtctatgttctgtttgtttgttttactatactttgcaaaaaaacagatggctggcttatgttcactgttgtagtgcactacctagtatcacttggccttcctgttgtcaagatgtaggaagcagcgtaagggatgtcgggccttcagacccccaattgccagctgtggtcctagttccagattgcatggaaatatttgataacattcctgcactgagttatcatggtctgaatatttatgtgacgctctacgagtggtaccaaaatgttagtgatggagtttttactaatggcaccttttcctgtttttaaattctagaatcttaataaatccaaagtgtacattttggtagtgatttcatttagttatttactttaaggactcccttttcaagcattaactctgcactaattttgacttatgaaaagattcagcagtaagaataaaaactgggccaaagcccaaagtaataatccttcacaaataggatggagttttaaaaatatgggcatcctgtgtgtagctttgaaaataaccaaactacttggaattaaaaagttaggtgaacatgaagattgtcataaccaaatccttgacagcttgatggatgaagagcagatgggtttatggtgtatgggaggaagcatggattttaggagggacagtatcagagagggatggttagaaagtgagtaagacaggttgctctttggaaaacaaggaaaatccctttattagaacaaggcatgaaattctgccactaggtggcgatgccctataactttacaacttagtgtacatcacacgagcactatggaagatttctccattctgcgccccaccaactccctcccctccttcatttttcaggatgacaacaccttagaggtttatggccatcaggagaatttactactaagctatatactgatgtaatgaaatctaatatatgttgtgcaatgaattatgagatgttatttagtttcaggattttattacttcaatcagttatgaccatatttccttttatatgattgctcactctttaaacataccagatgactgtataaggaacacctaataaagtctatagatgttaaaatattttaaatgttttaatttatatgccataatttgtttacattctggttatactggcgttcatattaaaagccataacatgttagaatctgagatctcaggtcggatagtgcctctaagttatattttgctaagaaattttattgtattagcaattgagcaagaaagaagaactgaatcattatacggtggttaatttttagcatagatgtcagaaagcctgttaatattccagaggcttatgataaactatttaaattgtcattctggattctgattatatctcctacaaagaaagagtgtattatttattgaactttttgtttgaatacatgtgcctatttttgcataaatgtaaaaatgtaattttaaaataaacccctgaaaacttctggtaacattaaaaaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:7381 -> Biological process: GO:0006119 [oxidative phosphorylation] evidence: TAS
            GeneID:7381 -> Biological process: GO:0006122 [mitochondrial electron transport, ubiquinol to cytochrome c] evidence: IEA
            GeneID:7381 -> Biological process: GO:0009060 [aerobic respiration] evidence: TAS
            GeneID:7381 -> Biological process: GO:0022904 [respiratory electron transport chain] evidence: TAS
            GeneID:7381 -> Biological process: GO:0044237 [cellular metabolic process] evidence: TAS
            GeneID:7381 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS
            GeneID:7381 -> Biological process: GO:0055114 [oxidation-reduction process] evidence: TAS
            GeneID:7381 -> Cellular component: GO:0005743 [mitochondrial inner membrane] evidence: TAS
            GeneID:7381 -> Cellular component: GO:0005746 [mitochondrial respiratory chain] evidence: TAS
            GeneID:7381 -> Cellular component: GO:0005750 [mitochondrial respiratory chain complex III] evidence: IEA
ANNOTATIONS from NCBI Entrez Gene (20130726):
            NP_001186904 -> EC 1.10.2.2

by @meso_cacase at DBCLS
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