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 have 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 localize to mitochondrial inner membrane. Human ortholog(s) of this gene implicated in Bjornstad syndrome; GRACILE syndrome; Leigh disease; and mitochondrial complex III deficiency nuclear type 1. Orthologous to human BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone).
Genome Resources
Note
None
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
No data available
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
2 figures from Costa et al., 2019
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With bcs1l Human Ortholog
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
Associated With bcs1l Via Experimental Models
No data available
Gene Ontology
Protein Domains
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
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 P-loop containing nucleoside triphosphate hydrolase
UniProtKB:E9QEE7 200
UniProtKB:Q7ZV60 420
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Gene Tree
Ensembl
Citations