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

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: human all
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Genomic context

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_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Structural snapshots of the cellular folded protein translocation machinery Bcs1.
Title: Structural snapshots of the cellular folded protein translocation machinery Bcs1.
This study reports structures of mouse BCS1L in two different conformations, representing three nucleotide states. The apo and ADP-bound structures reveal a homo-heptamer and show a large putative substrate-binding cavity accessible to the matrix space. ATP binding drives a contraction of the cavity by concerted motion of the ATPase domains, which could push substrate across the membrane.
Title: Structures of AAA protein translocase Bcs1 suggest translocation mechanism of a folded protein.
COX7A2L/SCAFI and Pre-Complex III Modify Respiratory Chain Supercomplex Formation in Different Mouse Strains with a Bcs1l Mutation.
Title: COX7A2L/SCAFI and Pre-Complex III Modify Respiratory Chain Supercomplex Formation in Different Mouse Strains with a Bcs1l Mutation.
Studies in the yeast BCS1 ortholog indicate that the Bcs1 protein is anchored in the mitochondrial inner membrane, despite the absence of an N-terminal targeting sequence. Targeting occurs via charged amino acids near the transmembrane domain that act as an internal targeting signal.
Title: Internal targeting signal of the BCS1 protein: a novel mechanism of import into mitochondria.
Metabolite profiles reveal energy failure and impaired beta-oxidation in liver of mice with complex III deficiency due to a BCS1L mutation.
Title: Metabolite profiles reveal energy failure and impaired beta-oxidation in liver of mice with complex III deficiency due to a BCS1L mutation.
The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency and is a viable mouse model for mitochondrial hepatopathy.
Title: The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: a viable mouse model for mitochondrial hepatopathy.
The predominant expression of BCS1L in the floor plate of the neural tube region, together with its presence in peripheral ganglia from E13 onwards, indicates a role for BCS1L in the development of neural structures.
Title: BCS1L is expressed in critical regions for neural development during ontogenesis in mice.

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Variation

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Alleles

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

Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

Process	Evidence Code	Pubs
involved_in mitochondrial cytochrome c oxidase assembly	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial respiratory chain complex I assembly	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial respiratory chain complex III assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within mitochondrial respiratory chain complex III assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial respiratory chain complex III assembly	ISO Inferred from Sequence Orthology more info
involved_in mitochondrion organization	ISO Inferred from Sequence Orthology more info
involved_in protein insertion into mitochondrial inner membrane from matrix	IBA Inferred from Biological aspect of Ancestor 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 more info	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

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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)

NM_001305652.1 → NP_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:223 → 354

AAA; ATPases associated with a variety of cellular activities

smart01024
Location:24 → 191

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:226 → 355

AAA; ATPase family associated with various cellular activities (AAA)
NM_025784.5 → NP_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:223 → 354

AAA; ATPases associated with a variety of cellular activities

smart01024
Location:24 → 191

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:226 → 355

AAA; ATPase family associated with various cellular activities (AAA)