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Gene Ontology Classifications
Symbol
Name
ID
Bcs1l
BCS1-like (yeast)
MGI:1914071

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Summary from NCBI RefSeq

The protein encoded by this gene is a chaperone protein that is involved in the assembly of complex III (CIII), one of the five protein complexes of the mitochondrial respiratory chain, and is necessary for the insertion of the Rieske iron-sulfur (RISP) and Qcr10p proteins into the precomplex. Studies from the yeast ortholog of this protein indicate that it is targeted to the inner membrane of the mitochondria, despite the absence of an N-terminal targeting sequence. Positively charged amino acids located C-terminal to the transmembrane domain are thought to act as an internal targeting signal (PMID:8599931). Mutations in the human ortholog of this gene have been associated with GRACILE syndrome, characterized by Growth retardation, Amino aciduria, Cholestasis, Iron overload, Lactic acidosis, and Early death. Mouse models with the corresponding mutation mimic the phenotype of GRACILE syndrome and display decreased complex III activity and decreased electron transport capacity (PMID:21274865). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]



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Gene Ontology Evidence Code Abbreviations:

Experimental:
EXP
Inferred from experiment
IDA
Inferred from direct assay
IEP
Inferred from expression pattern
IGI
Inferred from genetic interaction
IMP
Inferred from mutant phenotype
IPI
Inferred from physical interaction
Homology:
IAS
Inferred from ancestral sequence
IBA
Inferred from biological aspect of ancestor
IBD
Inferred from biological aspect of descendant
IKR
Inferred from key residues
IMR
Inferred from missing residues
IRD
Inferred from rapid divergence
ISA
Inferred from sequence alignment
ISM
Inferred from sequence model
ISO
Inferred from sequence orthology
ISS
Inferred from sequence or structural similarity
Automated:
IEA
Inferred from electronic annotation
RCA
Reviewed computational analysis
Other:
IC
Inferred by curator
NAS
Non-traceable author statement
ND
No biological data available
TAS
Traceable author statement

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/14/2017
MGI 6.11
The Jackson Laboratory