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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 western clawed frog; 1 zebrafish

HCOP human homology predictions: BCS1L
Gene Tree: Bcs1l

Human
homologs
BCS1L, BC1 (ubiquinol-cytochrome c reductase) synthesis-like
Orthology source: HGNC, HomoloGene

IDs:
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.p2

Disease Associations: (4) Diseases Associated with Human BCS1L

Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Gene trapped(2) Radiation induced(1) Targeted(3)
Genomic Mutations involving Bcs1l (1)
Incidental mutations (data from Mutagenetix , APF )
 
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 in Mice Using Bcs1l (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Bcs1l interacts with 56 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (1 records)
Data Summary: Results (125)    Tissues (88)    Images (25)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 118
RNA in situ 5
Western blot 2
cDNA source data(36)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase bcs1l    NEW 
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, TC1668796
DoTS DT.101371439, DT.529171
NIA Mouse Gene Index U000455
Consensus CDS Project CCDS15051.1
International Mouse Phenotyping Consortium Status Bcs1l
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021745 VEGA Gene Model | MGI Sequence Detail 4155 C57BL/6J ±  kb
transcript OTTMUST00000051601 VEGA | MGI Sequence Detail 1488 Not Applicable 
polypeptide OTTMUSP00000024321 VEGA | MGI Sequence Detail 418 Not Applicable 

For the selected sequences
All sequences(37) 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:212727 Davoudi M, et al., Complex I function and supercomplex formation are preserved in liver mitochondria despite progressive complex III deficiency. PLoS One. 2014;9(1):e86767
All references(32)
Disease annotation references (1)

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
08/25/2015
MGI 6.0
The Jackson Laboratory