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2025-05-09 16:55:34, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_006294 4839 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens ubiquinol-cytochrome c reductase binding protein
(UQCRB), transcript variant 1, mRNA.
ACCESSION NM_006294
VERSION NM_006294.4 GI:363498368
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 4839)
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 4839)
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 4839)
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 4839)
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 4839)
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 4839)
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 4839)
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 4839)
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 4839)
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 4839)
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,
BC005230.1 and AI365233.1.
This sequence is a reference standard in the RefSeqGene project.
On Dec 15, 2011 this sequence version replaced gi:169658386.
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 (1) encodes 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 :: BI547559.1, BC005230.1 [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
7-51 BI547559.1 8-52
52-989 BC005230.1 1-938
990-4419 AP003465.2 112321-115750 c
4420-4839 AI365233.1 1-420 c
FEATURES Location/Qualifiers
source 1..4839
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="8"
/map="8q22"
gene 1..4839
/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="HPRD:11770"
/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..440
/gene="UQCRB"
/gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
UQPC"
/EC_number="1.10.2.2"
/note="isoform 1 is encoded by transcript variant 1;
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 1"
/protein_id="NP_006285.1"
/db_xref="GI:5454152"
/db_xref="CCDS:CCDS6269.1"
/db_xref="GeneID:7381"
/db_xref="HGNC:12582"
/db_xref="HPRD:11770"
/db_xref="MIM:191330"
/translation="
MAGKQAVSASGKWLDGIRKWYYNAAGFNKLGLMRDDTIYEDEDVKEAIRRLPENLYNDRMFRIKRALDLNLKHQILPKEQWTKYEEENFYLEPYLKEVIRERKEREEWAKK
"
misc_feature 114..401
/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..394
/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..4819
/gene="UQCRB"
/gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
UQPC"
/inference="alignment:Splign:1.39.8"
variation 409
/gene="UQCRB"
/gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
UQPC"
/replace="a"
/replace="g"
/db_xref="dbSNP:1056268"
STS 449..573
/gene="UQCRB"
/gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
UQPC"
/standard_name="SHGC-12379"
/db_xref="UniSTS:79393"
polyA_signal 539..544
/gene="UQCRB"
/gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
UQPC"
polyA_site 564
/gene="UQCRB"
/gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
UQPC"
polyA_signal 967..972
/gene="UQCRB"
/gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
UQPC"
polyA_site 989
/gene="UQCRB"
/gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
UQPC"
STS 1145..1313
/gene="UQCRB"
/gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
UQPC"
/standard_name="GDB:335751"
/db_xref="UniSTS:156601"
STS 1227..1316
/gene="UQCRB"
/gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
UQPC"
/standard_name="D8S2279"
/db_xref="UniSTS:473907"
STS 3156..3292
/gene="UQCRB"
/gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
UQPC"
/standard_name="WI-14041"
/db_xref="UniSTS:40871"
polyA_signal 3640..3645
/gene="UQCRB"
/gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
UQPC"
polyA_site 3663
/gene="UQCRB"
/gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
UQPC"
polyA_signal 4395..4400
/gene="UQCRB"
/gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
UQPC"
polyA_site 4419
/gene="UQCRB"
/gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
UQPC"
polyA_signal 4789..4794
/gene="UQCRB"
/gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
UQPC"
polyA_site 4819
/gene="UQCRB"
/gene_synonym="MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6;
UQPC"
ORIGIN
agcggcctttctctgttcgcgatgtgacgtaacgcgcctgcggactgggcccagcttgtcctctatgacttacccagaaggcaacgcttctctttctggtcaaaatggctggtaagcaggccgtttcagcatcaggcaagtggctggatggtattcgaaaatggtattacaatgctgcaggattcaataaactggggttaatgcgagatgatacaatatacgaggatgaagatgtaaaagaagccataagaagacttcctgagaacctttataatgacaggatgtttcgcattaagagggcactggacctgaacttgaagcatcagatcttgcctaaagagcagtggaccaaatatgaagaggaaaatttctaccttgaaccgtatctgaaagaggttattcgggaaagaaaagaaagagaagaatgggcaaagaagtaatcatgtagttgaagtctgtggatgcagctgttatgaagatggttaaacttgaaacaaacaattttaagaattatttggtctgaagatgttttactttaaataaatgtctattgtaatggctggagtttttgaattccaaaccttatactgaataactactgaatccctttactgttaaatttttttccaaactttcaagatatatttagttgtgtttaactgctacttggagctcagaagccactttatcagttttcctcactggttggatagcctatcagtttatggaaggatataacttccgtaagttacatccttatggaagctactgaataaaagaagggggtatgcaccccctagtttgccaagattgagaaatagcctcttcactggtatgcaaacagatttgattttgcatcctatcatttaaaaagaaattatgtctgcaccccaacataggcatacttaagtaatatacatactcctgtgctaacatgtatactagaaaacaaaaagatgttagaaaaataaaagtataaagacaaatcatactgtccccatatcccagtgacttttccactttggaaatgattgttatgaagtttaagggttggatactagtcagttaaaagttttaagattatagggtaatttttaaaaatataaattagaatcattggcaaggcatggtggctcatgcctgtaatcccagcactttgggaggccgaggcgggcgggtcacctgaagtcaggaatttgagaccagcctggccaacatggtgaaaccctgtctctactaaaaatacaaaaaattagctaggcgtgatggtaggcacctgtaatcccagctactcgggaggctgagggaggagaattgcttgaccccaggaggtggaggttgcagtgagcctagatcacaccactgcacttcagcctgagcgacattgactgtctcaaaaaaaaaattaggattattcaatgttgtcatcatttccactcctaaattctgaaatgctttctttggtagaggtgagagtgtggagccacagctagtagagaaggaacagtaggacctgcagcctccctggttttccaggacaagtcattgctgtgtgtggcaggaatgccttacctcaaataacaaaacagtgtgaaaaacgaatttgtgttacatttaaagtttgtaaagcaatgagaaatgtgtgtatcataaagagcatctttaaatttttgctaaaatattagcctcttaaattctctaggaaccccctcccccgcttttttttttcctttcgctggtcgttatttttctaaacctatcctgaaatcatgtcaattttcttttgtatggttgaagacaactagatcacttgataatggttttgctcaggtcacattgtgacaaggttttaatgtagtcctactttgcagaaggaggccaagaagatgggctgtctagaaccccctttaaaagcatttgtctattcagaaaattttcctgagtagatctctgcaaaggctcttttaatagtgatttcaagatcacgtttgcaggactctggtctattcgttcagacgtctactgtgcacaattacaaggagactacaactgaggcatctcaaagagcactgtcaaggtgtgtagggagccgggtgggtggagggaggctgggctctgaccctagaaaccatgcttatgaatgctgttaatgtttaaagcaagcctaagggcactgctgaaggacaggggaacaaatagaactgaccaagactgaggtataacaggaacccccaggctatccacctgctcaaggtaaagtgtggtattacataaggcaacctctgattttgtaagagttcttcctaaagccaaagtgtatgcctattctatgtttccagattacttcattcttctaaatgagaacaagtgtgcaaaagttctttgaacactagatcaatgttttgtgttcattataaattatggttatcgtcctgcttgttatgaagactaagaaagtagatctagtatttggctcacacaggtgaatgggtgagaatttgttaatccatcagtgaagtcctttcatttgaaagagagggcctttctattatcaaaagccgtcctgtgtggaaaatcaccatgagagtgcctgaaacacaggcactctgcattgtcctgtagaccaaatctacattgtcctgtagtctggtctacattgtcctgtagaccgaatggtagagtgattcagagctaattctgggttagactgcacaggtctgaatctatttgctcactgtgtagtgctttaggaatacaatttaacctctccgtgcttcagtttgtttgtccctaagatagagctaatgatagaaacctacttcacccagttgtgaaaattaactgactgcatgtcaagcactaacagtttctggcatatagtatgcataatgtaaattatgtgctgagaagcgagaaagaataacttgggaaaacgctgaatatcatcaatgtcgaatagctaaccagtagctaaggtccaaggtctcctctcttccttctatgtggcactcttgtttctggttcatctactccccttgggtgtcacctccttgagtgaagtacctgctggagatgagaagagtggaactggatctgcatgacagctttgattaggatggagctaagacttggctatctccctgttttgtgttttggatgggtgacattttaaaactgccaatattcaaatcctgctaatttgctttgtacagtttaaaatgtttgatatcttttgttgtttaaagtttgagattggttttgaatatacagttttcctacatcttgaagaaagttatgtttgtttactctgaagtggtctatgttctgtttgtttgttttactatactttgcaaaaaaacagatggctggcttatgttcactgttgtagtgcactacctagtatcacttggccttcctgttgtcaagatgtaggaagcagcgtaagggatgtcgggccttcagacccccaattgccagctgtggtcctagttccagattgcatggaaatatttgataacattcctgcactgagttatcatggtctgaatatttatgtgacgctctacgagtggtaccaaaatgttagtgatggagtttttactaatggcaccttttcctgtttttaaattctagaatcttaataaatccaaagtgtacattttggtagtgatttcatttagttatttactttaaggactcccttttcaagcattaactctgcactaattttgacttatgaaaagattcagcagtaagaataaaaactgggccaaagcccaaagtaataatccttcacaaataggatggagttttaaaaatatgggcatcctgtgtgtagctttgaaaataaccaaactacttggaattaaaaagttaggtgaacatgaagattgtcataaccaaatccttgacagcttgatggatgaagagcagatgggtttatggtgtatgggaggaagcatggattttaggagggacagtatcagagagggatggttagaaagtgagtaagacaggttgctctttggaaaacaaggaaaatccctttattagaacaaggcatgaaattctgccactaggtggcgatgccctataactttacaacttagtgtacatcacacgagcactatggaagatttctccattctgcgccccaccaactccctcccctccttcatttttcaggatgacaacaccttagaggtttatggccatcaggagaatttactactaagctatatactgatgtaatgaaatctaatatatgttgtgcaatgaattatgagatgttatttagtttcaggattttattacttcaatcagttatgaccatatttccttttatatgattgctcactctttaaacataccagatgactgtataaggaacacctaataaagtctatagatgttaaaatattttaaatgttttaatttatatgccataatttgtttacattctggttatactggcgttcatattaaaagccataacatgttagaatctgagatctcaggtcggatagtgcctctaagttatattttgctaagaaattttattgtattagcaattgagcaagaaagaagaactgaatcattatacggtggttaatttttagcatagatgtcagaaagcctgttaatattccagaggcttatgataaactatttaaattgtcattctggattctgattatatctcctacaaagaaagagtgtattatttattgaactttttgtttgaatacatgtgcctatttttgcataaatgtaaaaatgtaattttaaaataaacccctgaaaacttctggtaacattaaaaaaaaaaaaaaaaaaaaa
//
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_006285 -> EC 1.10.2.2
by
@meso_cacase at
DBCLS
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