2024-04-25 12:31:25, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001254752 4976 bp mRNA linear PRI 07-JUL-2013 DEFINITION Homo sapiens ubiquinol-cytochrome c reductase binding protein (UQCRB), transcript variant 3, mRNA. ACCESSION NM_001254752 VERSION NM_001254752.1 GI:363498928 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 4976) 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 4976) 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 4976) 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 4976) 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 4976) 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 4976) 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 4976) 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 4976) 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 4976) 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 4976) 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, BU535281.1 and AI365233.1. 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 (3) contains an additional exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is longer than 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 :: BU535281.1, BG030150.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025082 [ECO:0000348] ##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 7-95 BI547559.1 8-96 96-619 BU535281.1 4-527 620-4556 AP003465.2 112321-116257 c 4557-4976 AI365233.1 1-420 c FEATURES Location/Qualifiers source 1..4976 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="8" /map="8q22" gene 1..4976 /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" misc_feature 66..68 /gene="UQCRB" /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6; UQPC" /note="upstream in-frame stop codon" CDS 105..527 /gene="UQCRB" /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6; UQPC" /EC_number="1.10.2.2" /note="isoform 3 is encoded by transcript variant 3; 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 3" /protein_id="NP_001241681.1" /db_xref="GI:363498929" /db_xref="CCDS:CCDS59107.1" /db_xref="GeneID:7381" /db_xref="HGNC:12582" /db_xref="MIM:191330" /translation="
MAGKQAVSASGKWLDGIRKWYYNAAGFNKLGLMRDDTIYEDEDVKEAIRRLPENLYNDRMFRIKRALDLNLKHQILPKEQWTKYEEVFAVPALHSASYLDEKISPLSVPPDPKKSFCEANSHPLNCIETRQRKISTLNRI
" misc_feature 114..>362 /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" exon 124..195 /gene="UQCRB" /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6; UQPC" /inference="alignment:Splign:1.39.8" STS 178..531 /gene="UQCRB" /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6; UQPC" /standard_name="RH70819" /db_xref="UniSTS:86635" exon 196..362 /gene="UQCRB" /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6; UQPC" /inference="alignment:Splign:1.39.8" variation 299 /gene="UQCRB" /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6; UQPC" /replace="a" /replace="g" /db_xref="dbSNP:11558865" variation 310 /gene="UQCRB" /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6; UQPC" /replace="c" /replace="t" /db_xref="dbSNP:1804263" exon 363..499 /gene="UQCRB" /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6; UQPC" /inference="alignment:Splign:1.39.8" exon 500..4956 /gene="UQCRB" /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6; UQPC" /inference="alignment:Splign:1.39.8" variation 546 /gene="UQCRB" /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6; UQPC" /replace="a" /replace="g" /db_xref="dbSNP:1056268" STS 586..710 /gene="UQCRB" /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6; UQPC" /standard_name="SHGC-12379" /db_xref="UniSTS:79393" polyA_signal 676..681 /gene="UQCRB" /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6; UQPC" polyA_site 701 /gene="UQCRB" /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6; UQPC" polyA_signal 1104..1109 /gene="UQCRB" /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6; UQPC" polyA_site 1126 /gene="UQCRB" /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6; UQPC" STS 1282..1450 /gene="UQCRB" /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6; UQPC" /standard_name="GDB:335751" /db_xref="UniSTS:156601" STS 1364..1453 /gene="UQCRB" /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6; UQPC" /standard_name="D8S2279" /db_xref="UniSTS:473907" STS 3293..3429 /gene="UQCRB" /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6; UQPC" /standard_name="WI-14041" /db_xref="UniSTS:40871" polyA_signal 3777..3782 /gene="UQCRB" /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6; UQPC" polyA_site 3800 /gene="UQCRB" /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6; UQPC" polyA_signal 4532..4537 /gene="UQCRB" /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6; UQPC" polyA_site 4556 /gene="UQCRB" /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6; UQPC" polyA_signal 4926..4931 /gene="UQCRB" /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6; UQPC" polyA_site 4956 /gene="UQCRB" /gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6; UQPC" ORIGIN
agcggcctttctctgttcgcgatgtgacgtaacgcgcctgcggactgggcccagcttgtcctctatgacttacccagaaggcaacgcttctctttctggtcaaaatggctggtaagcaggccgtttcagcatcaggcaagtggctggatggtattcgaaaatggtattacaatgctgcaggattcaataaactggggttaatgcgagatgatacaatatacgaggatgaagatgtaaaagaagccataagaagacttcctgagaacctttataatgacaggatgtttcgcattaagagggcactggacctgaacttgaagcatcagatcttgcctaaagagcagtggaccaaatatgaagaggtctttgctgttccagctctgcactctgcttcctacttagatgaaaagatcagcccattgagtgtccctccagatcccaagaagagcttctgtgaagcaaactctcaccccttgaactgcattgaaactaggcaaaggaaaatttctaccttgaaccgtatctgaaagaggttattcgggaaagaaaagaaagagaagaatgggcaaagaagtaatcatgtagttgaagtctgtggatgcagctgttatgaagatggttaaacttgaaacaaacaattttaagaattatttggtctgaagatgttttactttaaataaatgtctattgtaatggctggagtttttgaattccaaaccttatactgaataactactgaatccctttactgttaaatttttttccaaactttcaagatatatttagttgtgtttaactgctacttggagctcagaagccactttatcagttttcctcactggttggatagcctatcagtttatggaaggatataacttccgtaagttacatccttatggaagctactgaataaaagaagggggtatgcaccccctagtttgccaagattgagaaatagcctcttcactggtatgcaaacagatttgattttgcatcctatcatttaaaaagaaattatgtctgcaccccaacataggcatacttaagtaatatacatactcctgtgctaacatgtatactagaaaacaaaaagatgttagaaaaataaaagtataaagacaaatcatactgtccccatatcccagtgacttttccactttggaaatgattgttatgaagtttaagggttggatactagtcagttaaaagttttaagattatagggtaatttttaaaaatataaattagaatcattggcaaggcatggtggctcatgcctgtaatcccagcactttgggaggccgaggcgggcgggtcacctgaagtcaggaatttgagaccagcctggccaacatggtgaaaccctgtctctactaaaaatacaaaaaattagctaggcgtgatggtaggcacctgtaatcccagctactcgggaggctgagggaggagaattgcttgaccccaggaggtggaggttgcagtgagcctagatcacaccactgcacttcagcctgagcgacattgactgtctcaaaaaaaaaattaggattattcaatgttgtcatcatttccactcctaaattctgaaatgctttctttggtagaggtgagagtgtggagccacagctagtagagaaggaacagtaggacctgcagcctccctggttttccaggacaagtcattgctgtgtgtggcaggaatgccttacctcaaataacaaaacagtgtgaaaaacgaatttgtgttacatttaaagtttgtaaagcaatgagaaatgtgtgtatcataaagagcatctttaaatttttgctaaaatattagcctcttaaattctctaggaaccccctcccccgcttttttttttcctttcgctggtcgttatttttctaaacctatcctgaaatcatgtcaattttcttttgtatggttgaagacaactagatcacttgataatggttttgctcaggtcacattgtgacaaggttttaatgtagtcctactttgcagaaggaggccaagaagatgggctgtctagaaccccctttaaaagcatttgtctattcagaaaattttcctgagtagatctctgcaaaggctcttttaatagtgatttcaagatcacgtttgcaggactctggtctattcgttcagacgtctactgtgcacaattacaaggagactacaactgaggcatctcaaagagcactgtcaaggtgtgtagggagccgggtgggtggagggaggctgggctctgaccctagaaaccatgcttatgaatgctgttaatgtttaaagcaagcctaagggcactgctgaaggacaggggaacaaatagaactgaccaagactgaggtataacaggaacccccaggctatccacctgctcaaggtaaagtgtggtattacataaggcaacctctgattttgtaagagttcttcctaaagccaaagtgtatgcctattctatgtttccagattacttcattcttctaaatgagaacaagtgtgcaaaagttctttgaacactagatcaatgttttgtgttcattataaattatggttatcgtcctgcttgttatgaagactaagaaagtagatctagtatttggctcacacaggtgaatgggtgagaatttgttaatccatcagtgaagtcctttcatttgaaagagagggcctttctattatcaaaagccgtcctgtgtggaaaatcaccatgagagtgcctgaaacacaggcactctgcattgtcctgtagaccaaatctacattgtcctgtagtctggtctacattgtcctgtagaccgaatggtagagtgattcagagctaattctgggttagactgcacaggtctgaatctatttgctcactgtgtagtgctttaggaatacaatttaacctctccgtgcttcagtttgtttgtccctaagatagagctaatgatagaaacctacttcacccagttgtgaaaattaactgactgcatgtcaagcactaacagtttctggcatatagtatgcataatgtaaattatgtgctgagaagcgagaaagaataacttgggaaaacgctgaatatcatcaatgtcgaatagctaaccagtagctaaggtccaaggtctcctctcttccttctatgtggcactcttgtttctggttcatctactccccttgggtgtcacctccttgagtgaagtacctgctggagatgagaagagtggaactggatctgcatgacagctttgattaggatggagctaagacttggctatctccctgttttgtgttttggatgggtgacattttaaaactgccaatattcaaatcctgctaatttgctttgtacagtttaaaatgtttgatatcttttgttgtttaaagtttgagattggttttgaatatacagttttcctacatcttgaagaaagttatgtttgtttactctgaagtggtctatgttctgtttgtttgttttactatactttgcaaaaaaacagatggctggcttatgttcactgttgtagtgcactacctagtatcacttggccttcctgttgtcaagatgtaggaagcagcgtaagggatgtcgggccttcagacccccaattgccagctgtggtcctagttccagattgcatggaaatatttgataacattcctgcactgagttatcatggtctgaatatttatgtgacgctctacgagtggtaccaaaatgttagtgatggagtttttactaatggcaccttttcctgtttttaaattctagaatcttaataaatccaaagtgtacattttggtagtgatttcatttagttatttactttaaggactcccttttcaagcattaactctgcactaattttgacttatgaaaagattcagcagtaagaataaaaactgggccaaagcccaaagtaataatccttcacaaataggatggagttttaaaaatatgggcatcctgtgtgtagctttgaaaataaccaaactacttggaattaaaaagttaggtgaacatgaagattgtcataaccaaatccttgacagcttgatggatgaagagcagatgggtttatggtgtatgggaggaagcatggattttaggagggacagtatcagagagggatggttagaaagtgagtaagacaggttgctctttggaaaacaaggaaaatccctttattagaacaaggcatgaaattctgccactaggtggcgatgccctataactttacaacttagtgtacatcacacgagcactatggaagatttctccattctgcgccccaccaactccctcccctccttcatttttcaggatgacaacaccttagaggtttatggccatcaggagaatttactactaagctatatactgatgtaatgaaatctaatatatgttgtgcaatgaattatgagatgttatttagtttcaggattttattacttcaatcagttatgaccatatttccttttatatgattgctcactctttaaacataccagatgactgtataaggaacacctaataaagtctatagatgttaaaatattttaaatgttttaatttatatgccataatttgtttacattctggttatactggcgttcatattaaaagccataacatgttagaatctgagatctcaggtcggatagtgcctctaagttatattttgctaagaaattttattgtattagcaattgagcaagaaagaagaactgaatcattatacggtggttaatttttagcatagatgtcagaaagcctgttaatattccagaggcttatgataaactatttaaattgtcattctggattctgattatatctcctacaaagaaagagtgtattatttattgaactttttgtttgaatacatgtgcctatttttgcataaatgtaaaaatgtaattttaaaataaacccctgaaaacttctggtaacattaaaaaaaaaaaaaaaaaaaaa
//
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_001241681 -> EC 1.10.2.2
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