UQCRFS1 Gene Summary [Human]
Predicted to enable oxidoreductase activity. Involved in mitochondrial respiratory chain complex III assembly and respiratory electron transport chain. Located in mitochondrion. Part of mitochondrial respiratory chain complex III and mitochondrial respiratory chain complex IV. Implicated in mitochondrial complex III deficiency. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | UQCRFS1 |
| Official Name | ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 [Source:HGNC Symbol;Acc:HGNC:12587] |
| Ensembl ID | ENSG00000169021 |
| Bio databases IDs | |
| Aliases | ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1, cytochrome b-c1 complex subunit 5 |
| Synonyms | 4430402G14RIK, Complex III FeS, Fes subunit of complex iii, ISP, LRRGT00195, MC3DN10, Rieske, RIP1, RIS1, RISP, UBIQUINOL CYTOCHROME C REDUCTASE, ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1, ubiquinol-cytochrome c reductase, Rieske iron-sulphur polypeptide 1, UCRI, UQCR5 |
| 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 UQCRFS1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Rieske
- ubiquinol-cytochrome-c reductase
- binding protein
- Ubiquinol cytochrome reductase transmembrane region
- enzyme
- protein binding
- ubiquinol-cytochrome c reductase, iron-sulfur subunit
- Ubiquinol-cytochrome c reductase 8 kDa, N-terminal
Pathways
Biological processes and signaling networks where the UQCRFS1 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
- Parkinson disease
- Huntington disease
- organismal death
- ovarian cancer
- nuclear type 10 mitochondrial complex III deficienc
- progressive familial intrahepatic cholestasis type 1
- psoriasis
- infection by HIV-1
role in cell
- expression in
- proliferation
- apoptosis
- production in
- activation in
- cell death
- phosphorylation in
- number
- quantity
- flux in
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
- Mitochondria
- cytosol
- mitochondrial membrane
- mitochondrial matrix
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human UQCRFS1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- mitochondrial respiratory chain complex III assembly
- respiratory electron transport chain
- mitochondrial electron transport, ubiquinol to cytochrome c
Cellular Component
Where in the cell the gene product is active
- mitochondrion
- mitochondrial respiratory chain complex III
- mitochondrial respiratory chain complex IV
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- oxidoreductase activity
- ubiquinol-cytochrome-c reductase activity
- 2 iron, 2 sulfur cluster binding