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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; chr2:218659656-218663443 (+)  GRCh38
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: (16 annotations)
Process mitochondrial respiratory chain complex I assembly, mitochondrial respiratory chain complex III assembly, ...
Component integral component of 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 TypeResults
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 ModelOTTMUSG00000021745 (Evidence)
Ensembl Gene ModelENSMUSG00000026172 (Evidence)
Entrez Gene66821 (Evidence)
UniGene358700
DFCITC1580191
DoTSDT.529171
NIA Mouse Gene IndexU000455
Consensus CDS ProjectCCDS15051.1
International Mouse Knockout Project StatusBcs1l
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021745 VEGA Gene Model | MGI Sequence Detail 4155 C57BL/6J ±  kb
transcript OTTMUST00000051600 VEGA | MGI Sequence Detail 1890 Not Applicable 
polypeptide OTTMUSP00000024320 VEGA | MGI Sequence Detail 418 Not Applicable 

For the selected sequences
All sequences(33) RefSeq(4) UniProt(1)
Polymorphisms SNPs within 2kb(43 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
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
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory