UQCC5: A Key Assembly Factor for Mitochondrial Complex III
Explore the genomic context, expression patterns, and clinical relevance of the UQCC5 gene, a critical component in the assembly of mitochondrial respiratory chain Complex III.
Gene Information Card
| Symbol | UQCC5 |
|---|---|
| Full Name | ubiquinol-cytochrome c reductase complex assembly factor 5 |
| Gene Type | protein coding |
| Chromosomal Location | 3p14.3 |
| NCBI Gene ID | 100130819 ncbi.nlm.nih.gov/gene/100130819 |
| Ensembl ID | ENSG00000203875 |
| UniProt ID | Q5T9Y4 |
| OMIM ID | 620121 |
| HGNC ID | 43862 |
| Aliases | C3orf63, MGC26717 |
Description
UQCC5 (ubiquinol-cytochrome c reductase complex assembly factor 5) is a protein-coding gene located on chromosome 3 at position p14.3. It encodes a mitochondrial protein that plays a crucial role in the assembly of mitochondrial respiratory chain Complex III (ubiquinol-cytochrome c reductase). UQCC5 is essential for the proper formation and function of Complex III, which is involved in oxidative phosphorylation and ATP production. The gene is expressed in various tissues, with highest levels in the heart, skeletal muscle, and liver. Mutations in UQCC5 have been associated with mitochondrial complex III deficiency, leading to a range of clinical symptoms including encephalopathy, cardiomyopathy, and metabolic acidosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex III deficiency, nuclear type 11 | Pathogenic variants in UQCC5 impair Complex III assembly, leading to reduced enzymatic activity and mitochondrial dysfunction. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | High |
| Skeletal Muscle | 10.8 | High |
| Liver | 8.5 | Medium |
| Kidney | 7.2 | Medium |
| Brain | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 9.4 | Hepatocellular carcinoma cell line |
| K562 | 6.8 | Chronic myelogenous leukemia cell line |
| A549 | 5.9 | Lung carcinoma cell line |
| MCF7 | 4.7 | Breast adenocarcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Start codon loss | Rare | Loss of protein expression, likely loss-of-function |
| c.238C>T (p.Arg80*) | Nonsense | Rare | Premature truncation, loss-of-function |
| c.389G>A (p.Trp130*) | Nonsense | Rare | Premature truncation, loss-of-function |
| c.424A>G (p.Thr142Ala) | Missense | Rare | Potential impact on protein stability or function |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic variants are loss-of-function, leading to reduced or absent UQCC5 protein, impairing Complex III assembly.
Gain of Function (GOF)
No evidence of gain-of-function mutations in UQCC5.
Dominant Negative (DN)
No evidence of dominant-negative effects; disease inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial respiratory chain complex III assembly | • protein binding |
| • mitochondrion | • ubiquinol-cytochrome-c reductase activity |
Pathways
• Mitochondrial complex III assembly
• Oxidative phosphorylation
Protein Summary
The UQCC5 protein is a mitochondrial assembly factor that is part of the UQCC complex (UQCC1-UQCC2-UQCC3-UQCC5) required for the proper assembly of Complex III (ubiquinol-cytochrome c reductase). It is a small protein of approximately 15 kDa, localized to the mitochondrial inner membrane. UQCC5 interacts with other assembly factors and the structural subunits of Complex III to facilitate the incorporation of the catalytic core and the maturation of the complex. Defects in UQCC5 lead to Complex III deficiency, affecting cellular energy metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UQCC5 Knockout HEK293 Cell Line | EDJ-KQ16042 | Human | 440957 | Details Get a Quote |
| UQCC5 Knockout HeLa Cell Line | EDJ-KQ45937 | Human | 440957 | Details Get a Quote |
| UQCC5 Knockout A-549 Cell Line | EDJ-KQ47158 | Human | 440957 | Details Get a Quote |
| UQCC5 Knockout HCT 116 Cell Line | EDJ-KQ47159 | Human | 440957 | Details Get a Quote |
