UQCC1 Gene Summary [Human]
This gene encodes a transmembrane protein that is structurally similar to the mouse basic fibroblast growth factor repressed ZIC-binding protein. In mouse this protein may be involved in fibroblast growth factor regulated growth control. In humans, polymorphisms in this gene are associated with variation in human height and osteoarthritis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
Details
| Type | Retained Intron |
| Official Symbol | UQCC1 |
| Official Name | ubiquinol-cytochrome c reductase complex assembly factor 1 [Source:HGNC Symbol;Acc:HGNC:15891] |
| Ensembl ID | ENSG00000101019 |
| Bio databases IDs | |
| Aliases | ubiquinol-cytochrome c reductase complex assembly factor 1, Basic FGF-repressed Zic-binding protein, cytochrome B protein synthesis 3 homolog (S. cerevisiae) |
| Synonyms | 2310079L17Rik, 2410003P15Rik, 3110038N19Rik, BFZB, Bfzp, C20orf44, CBP3, ubiquinol-cytochrome c reductase complex assembly factor 1, UQCC |
| 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 UQCC1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Ubiquinol-cytochrome C chaperone
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- osteoarthritis
- diffuse idiopathic skeletal hyperostosis
- non-melanoma skin cancer
- flatfoot
- congenital dislocation of hip
regulates
- Cytochrome bc1
role in cell
- assembly 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
- Mitochondria
- mitochondrial inner membrane
- cytoplasmic vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human UQCC1 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
Cellular Component
Where in the cell the gene product is active
- mitochondrion
- cytoplasmic vesicle
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- protein binding