UQCC1: Ubiquinol-Cytochrome c Reductase Complex Assembly Factor 1
A key mitochondrial assembly factor for Complex III of the electron transport chain
Gene Information Card
| Symbol | UQCC1 |
|---|---|
| Full Name | Ubiquinol-Cytochrome c Reductase Complex Assembly Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q11.22 |
| NCBI Gene ID | 55245 ncbi.nlm.nih.gov/gene/55245 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q9NVA1 |
| OMIM ID | 611797 |
| HGNC ID | 21297 |
| Aliases | CBP3, C20orf44, UQCC |
Description
UQCC1 (Ubiquinol-Cytochrome c Reductase Complex Assembly Factor 1) encodes a mitochondrial protein essential for the assembly of respiratory chain Complex III (ubiquinol-cytochrome c reductase). It acts as a chaperone facilitating the incorporation of the Rieske iron-sulfur protein (UQCRFS1) into the complex. Mutations in UQCC1 cause mitochondrial complex III deficiency, nuclear type 10 (MC3DN10), a disorder characterized by lactic acidosis, hypotonia, and encephalopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex III deficiency, nuclear type 10 (MC3DN10) | Loss-of-function mutations impair Complex III assembly, reducing ATP production and causing oxidative stress. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | High |
| Skeletal Muscle | 9.8 | Medium |
| Liver | 7.2 | Medium |
| Brain | 6.1 | Medium |
| Kidney | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.3 | Moderate expression |
| HeLa | 7.1 | Moderate expression |
| HepG2 | 6.5 | Moderate expression |
| K562 | 4.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense/Start loss | Rare | Loss of translation initiation, likely loss of function |
| c.148C>T (p.Arg50*) | Nonsense | Rare | Premature stop, loss of function |
| c.370G>A (p.Gly124Arg) | Missense | Rare | Impaired protein stability and assembly function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations 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 assembly | • Protein chaperone activity |
| • Mitochondrion | • Ubiquinol-cytochrome-c reductase activity |
Pathways
• Mitochondrial complex III assembly
• Respiratory electron transport chain
Protein Summary
UQCC1 is a 25.6 kDa mitochondrial matrix protein that functions as a specific assembly factor for Complex III. It binds to newly synthesized UQCRFS1 (Rieske protein) and facilitates its insertion into the pre-assembled cytochrome b-c1 core. The protein contains a conserved CBP3 domain and is ubiquitously expressed, with highest levels in heart and skeletal muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UQCC1 Knockout HEK293 Cell Line | EDJ-KQ16040 | Human | 55245 | Details Get a Quote |
| UQCC1 Knockout A-549 Cell Line | EDJ-KQ47148 | Human | 55245 | Details Get a Quote |
| UQCC1 Knockout HCT 116 Cell Line | EDJ-KQ47149 | Human | 55245 | Details Get a Quote |
| UQCC1 Knockout HeLa Cell Line | EDJ-KQ47150 | Human | 55245 | Details Get a Quote |
