UQCC3
Ubiquinol-Cytochrome c Reductase Complex Assembly Factor 3
Gene Information Card
| Symbol | UQCC3 |
|---|---|
| Full Name | Ubiquinol-Cytochrome c Reductase Complex Assembly Factor 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 152816 ncbi.nlm.nih.gov/gene/152816 |
| Ensembl ID | ENSG00000166170 |
| UniProt ID | Q9BRT2 |
| OMIM ID | 614492 |
| HGNC ID | 28387 |
| Aliases | C11orf83, MGC26694 |
Description
UQCC3 (Ubiquinol-Cytochrome c Reductase Complex Assembly Factor 3) is a protein-coding gene located on chromosome 11q13.1. It encodes a mitochondrial protein essential for the assembly of mitochondrial complex III (ubiquinol-cytochrome c reductase). UQCC3 acts as a chaperone, facilitating the incorporation of the UQCRFS1 (Rieske iron-sulfur protein) subunit into the complex. Defects in UQCC3 are associated with mitochondrial complex III deficiency, nuclear type 9 (MC3DN9).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex III deficiency, nuclear type 9 (MC3DN9) | Loss-of-function mutations in UQCC3 impair assembly of complex III, leading to reduced mitochondrial respiratory chain activity. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Liver | 8.3 | Low |
| Skeletal Muscle | 15.1 | Medium |
| Kidney | 7.2 | Low |
| Brain | 6.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Cervical adenocarcinoma |
| HEK 293 | 9.5 | Embryonic kidney |
| HepG2 | 8.1 | Hepatocellular carcinoma |
| K562 | 6.4 | Chronic myelogenous leukemia |
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.2T>C (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.3G>A (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations that abolish start codon or introduce premature stop codons lead to loss of UQCC3 function, impairing complex III assembly.
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 (GO:0034551) | • Mitochondrion (GO:0005739) |
| • Protein binding (GO:0005515) |
Pathways
• Mitochondrial complex III assembly (Reactome: R-HSA-611105)
• Respiratory electron transport (Reactome: R-HSA-611105)
Protein Summary
UQCC3 is a small mitochondrial protein (approximately 10 kDa) localized to the inner mitochondrial membrane. It functions as a specific assembly factor for mitochondrial complex III, interacting with the UQCRFS1 subunit to facilitate its incorporation into the complex. Without UQCC3, complex III assembly is impaired, leading to respiratory chain dysfunction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UQCC3 Knockout HEK293 Cell Line | EDJ-KQ15247 | Human | 790955 | Details Get a Quote |
| UQCC3 Knockout A-549 Cell Line | EDJ-KQ47151 | Human | 790955 | Details Get a Quote |
| UQCC3 Knockout HCT 116 Cell Line | EDJ-KQ47153 | Human | 790955 | Details Get a Quote |
| UQCC3 Knockout HeLa Cell Line | EDJ-KQ47154 | Human | 790955 | Details Get a Quote |
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