Human Gene UQCRQ (ENST00000378670.8_4) from GENCODE V47lift37 |
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 Sequence and Links to Tools and Databases
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Comments and Description Text from UniProtKB
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ID: QCR8_HUMAN
DESCRIPTION: RecName: Full=Cytochrome b-c1 complex subunit 8; AltName: Full=Complex III subunit 8; AltName: Full=Complex III subunit VIII; AltName: Full=Ubiquinol-cytochrome c reductase complex 9.5 kDa protein; AltName: Full=Ubiquinol-cytochrome c reductase complex ubiquinone-binding protein QP-C;
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 subunit, together with cytochrome b, binds to ubiquinone.
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 UQCRQ 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 UQCRQ/QCR8 family.
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Primer design for this transcript
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MalaCards Disease Associations
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Comparative Toxicogenomics Database (CTD)
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 Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
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Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
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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.
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Protein Domain and Structure Information
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InterPro Domains: Graphical view of domain structure
IPR004205 - Cyt_bc1_su8
Pfam Domains:
PF02939 - UcrQ family
SCOP Domains:
81508 - Ubiquinone-binding protein QP-C of cytochrome bc1 complex (Ubiquinol-cytochrome c reductase)
ModBase Predicted Comparative 3D Structure on O14949
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
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Orthologous Genes in Other Species
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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.
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Gene Ontology (GO) Annotations with Structured Vocabulary
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Descriptions from all associated GenBank mRNAs
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AK297061 - Homo sapiens cDNA FLJ50798 complete cds, weakly similar to Ubiquinol-cytochrome c reductase complex ubiquinone-binding protein QP-C (EC 1.10.2.2).
BC090048 - Homo sapiens ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa, mRNA (cDNA clone MGC:111100 IMAGE:30393278), complete cds.
BC064949 - Homo sapiens ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa, mRNA (cDNA clone IMAGE:6025609).
AK312148 - Homo sapiens cDNA, FLJ92432.
D50369 - Homo sapiens mRNA for low molecular mass ubiquinone-binding protein, complete cds.
BC001390 - Homo sapiens ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa, mRNA (cDNA clone MGC:785 IMAGE:3050489), complete cds.
KJ893598 - Synthetic construct Homo sapiens clone ccsbBroadEn_02992 UQCRQ gene, encodes complete protein.
KR710382 - Synthetic construct Homo sapiens clone CCSBHm_00012083 UQCRQ (UQCRQ) mRNA, encodes complete protein.
DQ579855 - Homo sapiens piRNA piR-47967, complete sequence.
JD077953 - Sequence 58977 from Patent EP1572962.
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Biochemical and Signaling Pathways
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BioCyc Knowledge Library
PWY-3781 - aerobic respiration I (cytochrome c)
Reactome (by CSHL, EBI, and GO)
Protein O14949 (Reactome details) participates in the following event(s):
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
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Other Names for This Gene
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Alternate Gene Symbols: ENST00000378670.1, ENST00000378670.2, ENST00000378670.3, ENST00000378670.4, ENST00000378670.5, ENST00000378670.6, ENST00000378670.7, NM_014402, O14949, Q5FVE2, Q9BV88, Q9T2V7, QCR8_HUMAN, uc318oli.1, uc318oli.2
UCSC ID: ENST00000378670.8_4
RefSeq Accession: NM_014402.5
Protein: O14949
(aka QCR8_HUMAN)
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GeneReviews for This Gene
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GeneReviews article(s) related to gene UQCRQ:
leigh-nucl-ov (Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview)
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Gene Model Information
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for a detailed description of the fields of the table above.
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Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.
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US Server
