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Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone [ Mus musculus (house mouse) ]

Gene ID: 66821, updated on 30-Apr-2024

Summary

Official Symbol
Bcs1lprovided by MGI
Official Full Name
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperoneprovided by MGI
Primary source
MGI:MGI:1914071
See related
Ensembl:ENSMUSG00000026172 AllianceGenome:MGI:1914071
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
9130022O19Rik
Summary
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]
Expression
Ubiquitous expression in heart adult (RPKM 9.4), kidney adult (RPKM 6.4) and 28 other tissues See more
Orthologs
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Genomic context

See Bcs1l in Genome Data Viewer
Location:
1 C4; 1 38.54 cM
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (74627448..74631602)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (74588289..74592443)

Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene ubiquitin specific peptidase 37 Neighboring gene phospholipase C, delta 4 Neighboring gene STARR-seq mESC enhancer starr_01339 Neighboring gene zinc finger protein 142 Neighboring gene STARR-positive B cell enhancer ABC_E791 Neighboring gene ring finger protein 25 Neighboring gene serine/threonine kinase 36

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables ATP hydrolysis activity IDA
Inferred from Direct Assay
more info
PubMed 
enables mitochondrial protein-transporting ATPase activity NAS
Non-traceable Author Statement
more info
PubMed 
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in mitochondrion HDA PubMed 
located_in mitochondrion IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
mitochondrial chaperone BCS1
Names
BCS1-like
BCS1-like protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001305652.1NP_001292581.1  mitochondrial chaperone BCS1

    See identical proteins and their annotated locations for NP_001292581.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK079385, AW489767, BY265931
    Consensus CDS
    CCDS15051.1
    UniProtKB/Swiss-Prot
    Q9CZP5
    Related
    ENSMUSP00000109362.4, ENSMUST00000113733.10
    Conserved Domains (3) summary
    smart00382
    Location:223354
    AAA; ATPases associated with a variety of cellular activities
    smart01024
    Location:24191
    BCS1_N; This domain is found at the N terminal of the mitochondrial ATPase BSC1. It encodes the import and intramitochondrial sorting for the protein
    pfam00004
    Location:226355
    AAA; ATPase family associated with various cellular activities (AAA)
  2. NM_025784.5NP_080060.1  mitochondrial chaperone BCS1

    See identical proteins and their annotated locations for NP_080060.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK079385, AW489767, BY265931
    Consensus CDS
    CCDS15051.1
    UniProtKB/Swiss-Prot
    Q9CZP5
    Related
    ENSMUSP00000027358.5, ENSMUST00000027358.11
    Conserved Domains (3) summary
    smart00382
    Location:223354
    AAA; ATPases associated with a variety of cellular activities
    smart01024
    Location:24191
    BCS1_N; This domain is found at the N terminal of the mitochondrial ATPase BSC1. It encodes the import and intramitochondrial sorting for the protein
    pfam00004
    Location:226355
    AAA; ATPase family associated with various cellular activities (AAA)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000067.7 Reference GRCm39 C57BL/6J

    Range
    74627448..74631602
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_003946408.2 RNA Sequence

  2. XR_003946409.2 RNA Sequence