UQCR10
Ubiquinol-Cytochrome c Reductase Complex III Subunit X (Rieske-like protein)
Gene Information Card
| Symbol | UQCR10 |
|---|---|
| Full Name | Ubiquinol-Cytochrome c Reductase Complex III Subunit X |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.2 |
| NCBI Gene ID | 29796 ncbi.nlm.nih.gov/gene/29796 |
| Ensembl ID | ENSG00000100243 |
| UniProt ID | Q9UDW1 |
| OMIM ID | 609711 |
| HGNC ID | 12547 |
| Aliases | UQCR10, QCR10, UQCR10.1, UQCR10.2 |
Description
UQCR10 encodes a small subunit of mitochondrial respiratory chain complex III (ubiquinol-cytochrome c reductase). This subunit is essential for complex III assembly and stability. Mutations in UQCR10 are associated with mitochondrial complex III deficiency, nuclear type 11 (MC3DN11).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex III deficiency, nuclear type 11 (MC3DN11) | Loss-of-function mutations impair complex III assembly and electron transfer, leading to reduced ATP production and oxidative stress. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | High |
| Skeletal Muscle | 10.2 | High |
| Liver | 8.1 | Medium |
| Kidney | 7.8 | Medium |
| Brain | 6.4 | Medium |
| Lung | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 12.8 | High expression |
| HepG2 | 9.5 | Medium expression |
| K562 | 7.1 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.118C>T (p.Arg40*) | Nonsense | Rare | Premature stop, loss of function |
| c.155G>A (p.Arg52Gln) | Missense | Rare | Impaired complex III assembly |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss variants lead to truncated or absent protein, causing 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 | • Ubiquinol-cytochrome-c reductase activity |
| • Mitochondrial inner membrane | • Electron transport chain |
Pathways
• Oxidative phosphorylation (KEGG: hsa00190)
• Respiratory electron transport (Reactome: R-HSA-611105)
Protein Summary
UQCR10 is a 10 kDa subunit of mitochondrial complex III (cytochrome bc1 complex). It is located in the inner mitochondrial membrane and is required for proper assembly and stability of the complex. The protein contains a Rieske-like iron-sulfur cluster binding domain, though its exact role in electron transfer remains to be fully elucidated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UQCR10 Knockout HEK293 Cell Line | EDJ-KQ9048 | Human | 29796 | Details Get a Quote |
| UQCR10 Knockout HCT 116 Cell Line | EDJ-KQ34249 | Human | 29796 | Details Get a Quote |
| UQCR10 Knockout HeLa Cell Line | EDJ-KQ35501 | Human | 29796 | Details Get a Quote |
| UQCR10 Knockout A-549 Cell Line | EDJ-KQ64596 | Human | 29796 | Details Get a Quote |
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