UQCR11: Ubiquinol-Cytochrome c Reductase Complex III Subunit XI
Mitochondrial Complex III Subunit Involved in Electron Transport Chain
Gene Information Card
| Symbol | UQCR11 |
|---|---|
| Full Name | Ubiquinol-Cytochrome c Reductase Complex III Subunit XI |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 10975 ncbi.nlm.nih.gov/gene/10975 |
| Ensembl ID | ENSG00000167550 |
| UniProt ID | O14957 |
| OMIM ID | 609711 |
| HGNC ID | 12585 |
| Aliases | UQCR, UQCRX, 6.4 kDa protein, complex III subunit XI |
Description
UQCR11 encodes a small 6.4 kDa subunit of mitochondrial ubiquinol-cytochrome c reductase (complex III), which is part of the electron transport chain. This subunit is essential for the assembly and stability of complex III, facilitating electron transfer from ubiquinol to cytochrome c.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex III deficiency | Loss-of-function mutations impair complex III assembly and electron transport, leading to reduced ATP production | ClinVar, OMIM |
| Leigh syndrome | Deficiency in complex III activity due to UQCR11 mutations may contribute to neurodegeneration | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | High |
| Skeletal muscle | 10.2 | High |
| Liver | 8.1 | Medium |
| Brain | 7.4 | Medium |
| Kidney | 6.9 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line |
| HEK293 | 14.1 | Embryonic kidney cells |
| K562 | 12.8 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Potential loss of function |
| c.64C>T | Nonsense | Very rare | Premature truncation, likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Nonsense or frameshift mutations leading to truncated protein and complex III deficiency
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial electron transport (GO:0006122) | • mitochondrial respiratory chain complex III (GO:0005750) |
| • ubiquinol-cytochrome-c reductase activity (GO:0008121) | • integral component of membrane (GO:0016021) |
Pathways
• KEGG: hsa00190 - Oxidative phosphorylation
• Reactome: R-HSA-611105 - Respiratory electron transport
Protein Summary
UQCR11 is a 6.4 kDa subunit of mitochondrial complex III (cytochrome bc1 complex). It is located in the inner mitochondrial membrane and contributes to the structural integrity of the complex. The protein contains a single transmembrane domain and is required for efficient electron transfer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UQCR11 Knockout HEK293 Cell Line | EDJ-KQ51027 | Human | 10975 | Details Get a Quote |
| UQCR11 Knockout HeLa Cell Line | EDJ-KQ55537 | Human | 10975 | Details Get a Quote |
| UQCR11 Knockout A-549 Cell Line | EDJ-KQ64029 | Human | 10975 | Details Get a Quote |
| UQCR11 Knockout HCT 116 Cell Line | EDJ-KQ72480 | Human | 10975 | Details Get a Quote |
