UQCRB
Ubiquinol-Cytochrome c Reductase Binding Protein
Gene Information Card
| Symbol | UQCRB |
|---|---|
| Full Name | Ubiquinol-Cytochrome c Reductase Binding Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 8q22.1 |
| NCBI Gene ID | 7381 ncbi.nlm.nih.gov/gene/7381 |
| Ensembl ID | ENSG00000156467 |
| UniProt ID | P14927 |
| OMIM ID | 191330 |
| HGNC ID | 12585 |
| Aliases | UQCR6, QCR7, UQBP, 13kDa protein |
Description
UQCRB encodes a 13 kDa subunit of the ubiquinol-cytochrome c reductase complex (mitochondrial complex III). This protein is essential for electron transfer from ubiquinol to cytochrome c and is involved in mitochondrial respiration. Mutations in UQCRB are associated with mitochondrial complex III deficiency and related disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex III deficiency, nuclear type 3 | Biallelic mutations in UQCRB impair complex III assembly or activity, reducing ATP production | OMIM #124000, ClinVar |
| Leigh syndrome | UQCRB mutations cause respiratory chain dysfunction leading to neurodegeneration | Case reports in PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 25.3 | High |
| Liver | 12.1 | Medium |
| Brain | 8.5 | Medium |
| Skeletal muscle | 18.7 | High |
| Kidney | 10.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 22.4 | High expression |
| HeLa | 15.8 | Medium expression |
| HepG2 | 11.3 | Medium expression |
| K562 | 9.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.18C>A (p.Cys6Ter) | Nonsense | Rare | Loss of function, premature truncation |
| c.287A>G (p.Gln96Arg) | Missense | Rare | Impaired complex III assembly |
| c.418C>T (p.Arg140Trp) | Missense | Rare | Reduced enzyme activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • ubiquinol to cytochrome c (GO:0006122) | • Ubiquinol-cytochrome-c reductase activity (GO:0008121) |
| • Mitochondrial inner membrane (GO:0005743) | • Respiratory chain complex III (GO:0005750) |
Pathways
• Oxidative phosphorylation (KEGG: hsa00190)
• Electron transport chain (Reactome: R-HSA-611105)
Protein Summary
UQCRB is a nuclear-encoded subunit of mitochondrial complex III (cytochrome bc1 complex). It binds ubiquinol and facilitates electron transfer to cytochrome c. The mature protein is imported into mitochondria and localizes to the inner membrane. Defects in UQCRB cause complex III deficiency, leading to multisystem disorders including encephalopathy and myopathy.
Related Services
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|---|---|---|---|---|
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