UQCRC1 Gene
Ubiquinol-Cytochrome c Reductase Core Protein 1
Gene Information Card
| Symbol | UQCRC1 |
|---|---|
| Full Name | Ubiquinol-Cytochrome c Reductase Core Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 7384 ncbi.nlm.nih.gov/gene/7384 |
| Ensembl ID | ENSG00000114779 |
| UniProt ID | P31930 |
| OMIM ID | 191328 |
| HGNC ID | 12585 |
| Aliases | UQCR1, D3S3191, QCR1, UQCRC |
Description
UQCRC1 encodes core protein 1 of the mitochondrial ubiquinol-cytochrome c reductase (complex III), a key component of the electron transport chain. This protein is essential for mitochondrial respiration and ATP production.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex III deficiency nuclear type 1 | Loss-of-function mutations impair complex III assembly and activity, leading to defective oxidative phosphorylation | ClinVar, OMIM #124000 |
| Isolated complex III deficiency | Biallelic UQCRC1 mutations reduce complex III activity, causing multisystem mitochondrial disorder | NCBI Gene, OMIM #191328 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 48.2 | High |
| Skeletal muscle | 35.1 | High |
| Liver | 22.8 | Medium |
| Brain | 18.5 | Medium |
| Kidney | 20.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 42.1 | High expression |
| HeLa | 38.7 | High expression |
| HepG2 | 30.5 | Medium expression |
| SH-SY5Y | 25.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.418C>T (p.Arg140Trp) | Missense | Rare | Reduces complex III activity; associated with mitochondrial disease |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of protein expression; causes complex III deficiency |
| c.157C>T (p.Arg53*) | Nonsense | Rare | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense, nonsense, and start-loss mutations that reduce or abolish UQCRC1 protein function, leading to complex III deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported for UQCRC1.
Dominant Negative (DN)
No dominant-negative mutations reported for UQCRC1.
View complete mutation data：
Gene Ontology (GO)
| • Mitochondrial electron transport | • ubiquinol to cytochrome c |
| • Ubiquinol-cytochrome-c reductase activity | • Mitochondrial respiratory chain complex III assembly |
| • Protein-containing complex binding |
Pathways
• Electron transport chain (oxidative phosphorylation)
• Respiratory electron transport
• Complex III biogenesis
Protein Summary
UQCRC1 is a 480-amino acid core protein of mitochondrial complex III. It is involved in the assembly and stabilization of the complex, and its dysfunction leads to impaired electron transfer and ATP synthesis.
Related Services
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|---|---|---|---|---|
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