Gene
bcs1l
- ID
- ZDB-GENE-040426-938
- Name
- BC1 (ubiquinol-cytochrome c reductase) synthesis-like
- Symbol
- bcs1l Nomenclature History
- Previous Names
-
- zgc:56205 (1)
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to enable ATP binding activity. Predicted to be involved in mitochondrial respiratory chain complex III assembly and protein insertion into mitochondrial inner membrane from matrix. Predicted to be located in membrane and mitochondrion. Predicted to be active in mitochondrial inner membrane. Human ortholog(s) of this gene implicated in Bjornstad syndrome; GRACILE syndrome; and mitochondrial complex III deficiency nuclear type 1. Orthologous to human BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Costa et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Bjornstad syndrome | Alliance | Bjornstad syndrome | 262000 |
| GRACILE syndrome | Alliance | GRACILE syndrome | 603358 |
| mitochondrial complex III deficiency nuclear type 1 | Alliance | Mitochondrial complex III deficiency, nuclear type 1 | 124000 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR003960 | ATPase, AAA-type, conserved site |
| Domain | IPR003593 | AAA+ ATPase domain |
| Domain | IPR003959 | ATPase, AAA-type, core |
| Domain | IPR014851 | BCS1, N-terminal |
| Family | IPR050747 | Mitochondrial chaperone BCS1 subfamily |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
Domain Details Per Protein
| Protein | Length | AAA+ ATPase domain | ATPase, AAA-type, conserved site | ATPase, AAA-type, core | BCS1, N-terminal | Mitochondrial chaperone BCS1 subfamily | P-loop containing nucleoside triphosphate hydrolase |
|---|---|---|---|---|---|---|---|
|
UniProtKB:Q7ZV60
|
420 |
Interactions and Pathways
No data available
Plasmids
No data available