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. Predicted to localize to integral component of membrane and 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

Comparative Information

Expression

All Expression Data

No data available

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

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
Family	IPR050747	Mitochondrial chaperone BCS1 subfamily
Homologous_superfamily	IPR027417	P-loop containing nucleoside triphosphate hydrolase