Human Gene UQCRB (ENST00000518406.5) Description and Page Index
Description: Homo sapiens ubiquinol-cytochrome c reductase binding protein (UQCRB), transcript variant 3, mRNA. (from RefSeq NM_001254752) RefSeq Summary (NM_001254752): 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]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on 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 :: SRR3476690.235901.1, AA811742.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## Gencode Transcript: ENST00000518406.5 Gencode Gene: ENSG00000156467.9 Transcript (Including UTRs) Position: hg38 chr8:96,230,942-96,235,539 Size: 4,598 Total Exon Count: 5 Strand: - Coding Region Position: hg38 chr8:96,231,105-96,235,530 Size: 4,426 Coding Exon Count: 5
ID:QCR7_HUMAN DESCRIPTION: RecName: Full=Cytochrome b-c1 complex subunit 7; AltName: Full=Complex III subunit 7; AltName: Full=Complex III subunit VII; AltName: Full=QP-C; AltName: Full=Ubiquinol-cytochrome c reductase complex 14 kDa protein; FUNCTION: This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This component is involved in redox-linked proton pumping. SUBUNIT: The bc1 complex contains 11 subunits: 3 respiratory subunits (cytochrome b, cytochrome c1 and Rieske/UQCRFS1), 2 core proteins (UQCRC1/QCR1 and UQCRC2/QCR2) and 6 low-molecular weight proteins (UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9, UQCR11/QCR10 and a cleavage product of Rieske/UQCRFS1). SUBCELLULAR LOCATION: Mitochondrion inner membrane. DISEASE: Defects in UQCRB are a cause of mitochondrial complex III deficiency (MT-C3D) [MIM:124000]. A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. SIMILARITY: Belongs to the UQCRB/QCR7 family. CAUTION: Was originally thought to be the ubiquinone-binding protein (QP-C). WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/UQCRB";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF02271 - Ubiquinol-cytochrome C reductase complex 14kD subunit
ModBase Predicted Comparative 3D Structure on P14927
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
R-HSA-164651 Electron transfer from ubiquinol to cytochrome c of complex III R-HSA-611105 Respiratory electron transport R-HSA-163200 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport R-HSA-1430728 Metabolism