Version 5.4
Homo sapiens Protein: UQCRQ
Summary
InnateDB Protein IDBP-43594.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol UQCRQ
Protein Name ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000367939
InnateDB Gene IDBG-43592 (UQCRQ)
Protein Structure
UniProt Annotation
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.
Subcellular Localization Mitochondrion inner membrane.
Disease Associations Mitochondrial complex III deficiency, nuclear 4 (MC3DN4) [MIM:615159]: 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. {ECO:0000269PubMed:18439546}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.
Experimentally validated
Total 15 [view]
Protein-Protein 14 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0008121 ubiquinol-cytochrome-c reductase activity
Biological Process
GO:0021539 subthalamus development
GO:0021548 pons development
GO:0021680 cerebellar Purkinje cell layer development
GO:0021766 hippocampus development
GO:0021794 thalamus development
GO:0021854 hypothalamus development
GO:0021860 pyramidal neuron development
GO:0022904 respiratory electron transport chain
GO:0030901 midbrain development
GO:0044237 cellular metabolic process
GO:0044281 small molecule metabolic process
GO:1902600 hydrogen ion transmembrane transport
Cellular Component
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0070469 respiratory chain
Protein Structure and Domains
PDB ID
InterPro IPR004205 Cytochrome b-c1 complex subunit 8
PFAM PF02939
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt O14949
PhosphoSite PhosphoSite-O14949
TrEMBL
UniProt Splice Variant
Entrez Gene 27089
UniGene Hs.644948
RefSeq
HUGO HGNC:29594
OMIM 612080
CCDS CCDS34237
HPRD 17941
IMGT
EMBL BC001390 BC090048 D50369
GenPept AAH01390 AAH90048 BAA23321

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca