InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: UQCRC2

Summary

InnateDB Protein

IDBP-19699.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

UQCRC2

Protein Name

ubiquinol-cytochrome c reductase core protein II

Synonyms

MC3DN5; QCR2; UQCR2;

Species

Homo sapiens

Ensembl Protein

ENSP00000268379

InnateDB Gene

IDBG-19697 (UQCRC2)

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. The core protein 2 is required for the assembly of the complex.

Subcellular Localization

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Disease Associations

Mitochondrial complex III deficiency, nuclear 5 (MC3DN5) [MIM:615160]: 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:23281071}. 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 39 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	39 [view]
Protein-Protein	35 [view]
Protein-DNA	4 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0004222	metalloendopeptidase activity
GO:0005515	protein binding
GO:0032403	protein complex binding
GO:0046872	metal ion binding

Biological Process

GO:0006119	oxidative phosphorylation
GO:0006508	proteolysis
GO:0009060	aerobic respiration
GO:0022904	respiratory electron transport chain
GO:0044237	cellular metabolic process
GO:0044281	small molecule metabolic process

Cellular Component

GO:0005739	mitochondrion
GO:0005743	mitochondrial inner membrane
GO:0005750	mitochondrial respiratory chain complex III
GO:0070062	extracellular vesicular exosome