BCS1L Gene Summary [Human]
This gene encodes a homolog of the S. cerevisiae bcs1 protein which is involved in the assembly of complex III of the mitochondrial respiratory chain. The encoded protein does not contain a mitochondrial targeting sequence but experimental studies confirm that it is imported into mitochondria. Mutations in this gene are associated with mitochondrial complex III deficiency and the GRACILE syndrome. Several alternatively spliced transcripts encoding two different isoforms have been described. [provided by RefSeq, Jan 2016]
Details
| Type | Protein Coding |
| Official Symbol | BCS1L |
| Official Name | BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone [Source:HGNC Symbol;Acc:HGNC:1020] |
| Ensembl ID | ENSG00000074582 |
| Bio databases IDs | |
| Aliases | BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone, GRACILE syndrome, Bjornstad syndrome |
| Synonyms | 9130022O19Rik, BCS, BCS1, BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone, BJS, FLNMS, GRACILE, h-BCS, h-BCS1, Hs.6719, MC3DN1, PTD |
| 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 BCS1L often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- BCS1 N terminal
- ATPase family associated with various cellular activities (AAA)
- enzyme
- protein binding
- ATPase
- P-loop containing Nucleoside Triphosphate Hydrolases
- ATPases associated with a variety of cellular activities
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cardiomyopathy
- GRACILE syndrome
- nuclear type 1 mitochondrial complex III deficiency
- Björnstad syndrome
- hereditary disorder
- lipodystrophy
- neonatal encephalopathy
- fibrosis
- encephalopathy
- mental retardation
role in cell
- autophagy in
- assembly in
- autophagy
- state 3 respiration in
- organization
- ultrastructure
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
- pH resistant lipid raft fraction
- cellular membrane
- Mitochondria
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BCS1L gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein insertion into mitochondrial membrane from inner side
- mitochondrial respiratory chain complex IV assembly
- mitochondrial respiratory chain complex III assembly
- mitochondrial respiratory chain complex I assembly
- mitochondrion organization
Cellular Component
Where in the cell the gene product is active
- mitochondrion
- mitochondrial respiratory chain complex III
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- protein binding