UQCRC1 Gene Summary [Human]
Enables ubiquitin protein ligase binding activity. Predicted to be involved in oxidative phosphorylation. Predicted to act upstream of or within mitochondrial electron transport, ubiquinol to cytochrome c. Located in mitochondrion. Implicated in Alzheimer's disease. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Retained Intron |
| Official Symbol | UQCRC1 |
| Official Name | ubiquinol-cytochrome c reductase core protein 1 [Source:HGNC Symbol;Acc:HGNC:12585] |
| Ensembl ID | ENSG00000010256 |
| Bio databases IDs | |
| Aliases | ubiquinol-cytochrome c reductase core protein 1 |
| Synonyms | 1110032G10Rik, COR1, D3S3191, PKNPY, QCR1, Ubiquinol cytochrome c reductase 1, Ubiquinol Cytochrome C Reductase Core 1, ubiquinol-cytochrome c reductase core protein 1, UQCR1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human UQCRC1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ubiquitin protein ligase binding
- ubiquinol-cytochrome-c reductase
- binding protein
- enzyme
- protein binding
- Insulinase (Peptidase family M16)
- Peptidase M16 inactive domain
Pathways
Biological processes and signaling networks where the UQCRC1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- insulin resistance
- liver cancer
- epithelial cancer
- Huntington disease
- Alzheimer disease
- parkinsonism with polyneuropathy
- hepatitis B virus-related hepatocellular carcinoma
- idiopathic scoliosis
- hypertrophic cardiomyopathy
- hepatitis C virus-related hepatocellular carcinoma
regulates
- reactive oxygen species
- Cytochrome bc1
role in cell
- apoptosis
- production in
- survival
- respiration
- quantity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- myelin enriched fraction
- pH resistant lipid raft fraction
- detergent resistant lipid raft fraction
- cellular membrane
- Nucleus
- Mitochondria
- myofilaments
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human UQCRC1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- oxidative phosphorylation
- response to alkaloid
- cellular respiration
- response to activity
- mitochondrial electron transport, ubiquinol to cytochrome c
- aerobic respiration
Cellular Component
Where in the cell the gene product is active
- mitochondrial respiratory chain
- mitochondrion
- mitochondrial respiratory chain complex III
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- ubiquitin protein ligase binding
- protein binding
- ubiquinol-cytochrome-c reductase activity
- metal ion binding