Homo sapiens Gene: BCS1L
Summary
InnateDB Gene IDBG-81091.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BCS1L
Gene Name BC1 (ubiquinol-cytochrome c reductase) synthesis-like
Synonyms BCS; BCS1; BJS; FLNMS; GRACILE; h-BCS; Hs.6719; MC3DN1; PTD;
Species Homo sapiens
Ensembl Gene ENSG00000074582
Encoded Proteins
BCS1-like (S. cerevisiae)
BCS1-like (S. cerevisiae)
BCS1-like (S. cerevisiae)
BCS1-like (S. cerevisiae)
BCS1-like (S. cerevisiae)
BCS1-like (S. cerevisiae)
BCS1-like (S. cerevisiae)
BCS1-like (S. cerevisiae)
BCS1-like (S. cerevisiae)
BCS1-like (S. cerevisiae)
BCS1-like (S. cerevisiae)
BCS1-like (S. cerevisiae)
BCS1-like (S. cerevisiae)
BCS1-like (S. cerevisiae)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a homolog of the S. cerevisiae bcs1 protein which is involved in the assembly of complex III of the mitochondrial respiratory chain. The encoded protein does not contain a mitochondrial targeting sequence but experimental studies confirm that it is imported into mitochondria. Mutations in this gene are associated with mitochondrial complex III deficiency and the GRACILE syndrome. Five alternatively spliced transcripts encoding the same protein have been described. [provided by RefSeq, Mar 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:218658764-218663443
Strand Forward strand
Band q35
Transcripts
ENST00000359273 ENSP00000352219
ENST00000392111 ENSP00000375959
ENST00000392110 ENSP00000375958
ENST00000392109 ENSP00000375957
ENST00000428880 ENSP00000391007
ENST00000430322 ENSP00000398957
ENST00000456050 ENSP00000395440
ENST00000443791 ENSP00000412729
ENST00000423377 ENSP00000397293
ENST00000412366 ENSP00000406494
ENST00000439945 ENSP00000404999
ENST00000431802 ENSP00000413908
ENST00000426649 ENSP00000416169
ENST00000436603 ENSP00000389402
ENST00000490188
ENST00000493376
ENST00000471576
ENST00000477422
ENST00000460579
ENST00000465706
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
Experimentally validated
Total 9 [view]
Protein-Protein 8 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003723 RNA binding
GO:0003724 RNA helicase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0017111 nucleoside-triphosphatase activity
Biological Process
GO:0007005 mitochondrion organization
GO:0008152 metabolic process
GO:0032981 mitochondrial respiratory chain complex I assembly
GO:0033617 mitochondrial respiratory chain complex IV assembly
GO:0034551 mitochondrial respiratory chain complex III assembly
Cellular Component
GO:0005739 mitochondrion
GO:0005750 mitochondrial respiratory chain complex III
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Metabolism of proteins pathway
Mitochondrial protein import pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.471401 Hs.608972
RefSeq NM_001079866 NM_001257342 NM_001257343 NM_001257344 NM_004328 XM_005246747 XM_005246749
HUGO
OMIM
CCDS CCDS2419
HPRD 04708
IMGT
EMBL
GenPept
RNA Seq Atlas