UQCRQ
Ubiquinol-Cytochrome c Reductase Complex III Subunit VII (9.5kDa)
Gene Information Card
| Symbol | UQCRQ |
|---|---|
| Full Name | Ubiquinol-Cytochrome c Reductase Complex III Subunit VII |
| Gene Type | protein-coding |
| Chromosomal Location | 5q31.1 |
| NCBI Gene ID | 27089 ncbi.nlm.nih.gov/gene/27089 |
| Ensembl ID | ENSG00000164182 |
| UniProt ID | O14949 |
| OMIM ID | 612080 |
| HGNC ID | 12594 |
| Aliases | QCR7, UQCR7, MC3DN4 |
Description
The UQCRQ gene encodes subunit VII (9.5 kDa) of the ubiquinol-cytochrome c reductase complex (complex III) of the mitochondrial respiratory chain. This subunit is essential for the assembly and function of complex III, which catalyzes electron transfer from ubiquinol to cytochrome c, coupled with proton translocation across the inner mitochondrial membrane. Mutations in UQCRQ cause mitochondrial complex III deficiency, nuclear type 4 (MC3DN4), a severe multisystem disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex III deficiency, nuclear type 4 (MC3DN4) | Loss-of-function mutations in UQCRQ impair complex III assembly and activity, leading to defective oxidative phosphorylation and reduced ATP production. | OMIM #612080; ClinVar; PMID: 18628315 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 19.2 | High |
| Skeletal Muscle | 15.8 | High |
| Liver | 12.1 | Medium |
| Kidney | 11.5 | Medium |
| Brain | 9.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.5 | High expression |
| HeLa | 14.2 | Medium expression |
| HepG2 | 11.0 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3G>A (p.Met1?) | Missense/Start loss | Rare | Loss of protein expression; causes MC3DN4 |
| c.287_288delAG (p.Gln96Argfs*3) | Frameshift | Rare | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported UQCRQ mutations are loss-of-function, leading to complex III deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial respiratory chain complex III (GO:0005750) | • mitochondrial electron transport (GO:0006122) |
| • integral component of membrane (GO:0016021) | • respiratory chain complex III (GO:0045275) |
Pathways
• KEGG hsa00190: Oxidative phosphorylation
• Reactome R-HSA-611105: Respiratory electron transport
Protein Summary
UQCRQ is a 9.5 kDa protein (subunit VII) of mitochondrial complex III. It is a nuclear-encoded component that localizes to the inner mitochondrial membrane. The protein is required for proper assembly and stability of the complex. Defects in UQCRQ lead to impaired electron transfer and proton pumping, resulting in mitochondrial complex III deficiency.
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