Bcs1l
Gene Detail

Symbol Name ID

Bcs1l BCS1-like (yeast) MGI:1914071

Synonyms

9130022O19Rik

Feature Type

protein coding gene

Genetic Map

Chromosome 1

38.54 cM, cytoband C3
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

Chr1:74588289-74592443 bp, + strand From VEGA annotation of GRCm38   4155 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:3193  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Bcs1l

Human homologs

Human Homolog		BCS1L, BC1 (ubiquinol-cytochrome c reductase) synthesis-like
NCBI Gene ID		617
neXtProt AC		NX_Q9Y276
Human Synonyms		BCS, BCS1, BJS, FLNMS, GRACILE, h-BCS, Hs.6719, MC3DN1, PTD
Human Chr (Location)		2q33; chr2:219524379-219528166 (+)  GRCh37.p10
Disease Associations		(4) Diseases Associated with Human BCS1L

Alleles and phenotypes

All alleles(4) : Targeted(2) Gene trapped(2)
 

Mice homozygous for a knock-in allele exhibit reduced growth, defects in the liver, kidney and testes, and mitochondrial hepatopathy with premature death.

 
Human Diseases Modeled Using Mouse Bcs1l (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (14 annotations)

Process	mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex III assembly, ...
Component	integral to membrane, membrane, ...
Function	ATP binding, nucleoside-triphosphatase activity, ...

External Resources: FuncBase

Expression

Literature Summary: (1 records)
Data Summary: Results (125)    Tissues (88)    Images (25)
Theiler Stages: 10, 14, 18, 20, 21, 23, 24, 25, 26, 28

Assay Type	Results
Immunohistochemistry	118
RNA in situ	5
Western blot	2

cDNA source data(36)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(36) cDNA(36)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000021745 (Evidence)
Ensembl Gene Model	ENSMUSG00000026172 (Evidence)
Entrez Gene	66821 (Evidence)
UniGene	358700
DFCI	TC1580191
DoTS	DT.529171
NIA Mouse Gene Index	U000455
Consensus CDS Project	CCDS15051.1
International Mouse Knockout Project Status	Bcs1l

Sequences

Length	Strain/Species
genomic	OTTMUSG00000021745	VEGA Gene Model | MGI Sequence Detail	4155	C57BL/6J
transcript	OTTMUST00000051600	VEGA | MGI Sequence Detail	1890	Not Applicable
polypeptide	OTTMUSP00000024320	VEGA | MGI Sequence Detail	418	Not Applicable

All sequences(31) RefSeq(2) UniProt(1)

Polymorphisms

SNPs(22 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR003593	AAA+ ATPase domain
InterPro	IPR003960	ATPase, AAA-type, conserved site
InterPro	IPR003959	ATPase, AAA-type, core
InterPro	IPR014851	BCS1, N-terminal
InterPro	IPR027243	Mitochondrial chaperone BCS1
Protein Ontology	PR:000004713	mitochondrial chaperone BCS1

References

(Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:189584 Kotarsky H, et al., Metabolite profiles reveal energy failure and impaired beta-oxidation in liver of mice with complex III deficiency due to a BCS1L mutation. PLoS One. 2012;7(7):e41156
All references(31)