UQCRH
Ubiquinol-Cytochrome c Reductase Hinge Protein
Gene Information Card
| Symbol | UQCRH |
|---|---|
| Full Name | Ubiquinol-Cytochrome c Reductase Hinge Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 1p34.1 |
| NCBI Gene ID | 7388 ncbi.nlm.nih.gov/gene/7388 |
| Ensembl ID | ENSG00000173660 |
| UniProt ID | P07919 |
| OMIM ID | 613844 |
| HGNC ID | 12584 |
| Aliases | UQCRH, UQCR8, UQCRH1, UQCRH2, UQCRH3 |
Description
UQCRH encodes the hinge protein (also known as subunit 8) of mitochondrial ubiquinol-cytochrome c reductase (complex III). This small acidic protein is essential for electron transfer between cytochrome c1 and cytochrome c. It is located in the inner mitochondrial membrane and is required for proper assembly and function of complex III.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex III deficiency nuclear type 6 | Loss-of-function mutations in UQCRH impair complex III assembly and activity, leading to reduced ATP production and oxidative stress. | ClinVar, OMIM |
| Leigh syndrome | Biallelic UQCRH variants cause mitochondrial dysfunction in the brain, resulting in neurodegeneration. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | High |
| Skeletal muscle | 10.2 | High |
| Liver | 8.1 | Medium |
| Kidney | 7.3 | Medium |
| Brain | 6.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | High expression |
| HeLa | 11.5 | High expression |
| K562 | 9.8 | Medium expression |
| HepG2 | 8.2 | 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.155C>T (p.Pro52Leu) | Missense | Rare | Impaired protein stability and complex III assembly |
| c.238_240del (p.Lys80del) | Deletion | Rare | Disrupts hinge region function |
Mutation functional classification
Loss of Function (LOF)
Most reported UQCRH mutations lead to loss of function, reducing complex III activity.
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 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
The UQCRH protein (hinge protein) is a 78-amino acid polypeptide that forms part of the cytochrome bc1 complex (complex III). It contains a single transmembrane domain and a highly acidic C-terminal region that interacts with cytochrome c. The protein is essential for electron transfer and proton translocation across the inner mitochondrial membrane.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UQCRHL Knockout HEK293 Cell Line | EDJ-KQ16044 | Human | 440567 | Details Get a Quote |
| UQCRHL Knockout A-549 Cell Line | EDJ-KQ47164 | Human | 440567 | Details Get a Quote |
| UQCRHL Knockout HCT 116 Cell Line | EDJ-KQ47165 | Human | 440567 | Details Get a Quote |
| UQCRHL Knockout HeLa Cell Line | EDJ-KQ47166 | Human | 440567 | Details Get a Quote |
| UQCRH Knockout HEK293 Cell Line | EDJ-KQ50705 | Human | 7388 | Details Get a Quote |
| UQCRH Knockout HeLa Cell Line | EDJ-KQ54731 | Human | 7388 | Details Get a Quote |
| UQCRH Knockout A-549 Cell Line | EDJ-KQ63224 | Human | 7388 | Details Get a Quote |
| UQCRH Knockout HCT 116 Cell Line | EDJ-KQ71689 | Human | 7388 | Details Get a Quote |
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