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
|
|
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 |
|
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
|
|
|
|
Molecular Function |
Accession |
GO Term |
GO:0008121
|
ubiquinol-cytochrome-c reductase activity
|
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR004205
Cytochrome b-c1 complex subunit 8
|
PFAM |
PF02939
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
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
|
|
|