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    Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone [ Rattus norvegicus (Norway rat) ]

    Gene ID: 301514, updated on 27-Dec-2024

    Summary

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    Official Symbol
    Bcs1lprovided by RGD
    Official Full Name
    BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperoneprovided by RGD
    Primary source
    RGD:1359658
    See related
    EnsemblRapid:ENSRNOG00000016754 AllianceGenome:RGD:1359658
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable ATP hydrolysis activity. Predicted to be involved in mitochondrial cytochrome c oxidase assembly and mitochondrial respiratory chain complex I assembly. Predicted to act upstream of or within mitochondrial respiratory chain complex III assembly. Predicted to be located in mitochondrion. Human ortholog(s) of this gene implicated in Bjornstad syndrome; GRACILE syndrome; and mitochondrial complex III deficiency nuclear type 1. Orthologous to human BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Heart (RPKM 83.8), Muscle (RPKM 61.9) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Bcs1l in Genome Data Viewer
    Location:
    9q33
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 9 NC_086027.1 (83614045..83618052)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 9 NC_051344.1 (76164925..76168940)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 9 NC_005108.4 (81868158..81872201)

    Chromosome 9 - NC_086027.1Genomic Context describing neighboring genes Neighboring gene ubiquitin specific peptidase 37 Neighboring gene CCR4-NOT transcription complex subunit 9 Neighboring gene phospholipase C, delta 4 Neighboring gene zinc finger protein 142 Neighboring gene ring finger protein 25 Neighboring gene serine/threonine kinase 36 Neighboring gene uncharacterized LOC134480595

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: a viable mouse model for mitochondrial hepatopathy. Levéen P, et al. Hepatology, 2011 Feb. PMID 21274865
    2. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. Visapää I, et al. Am J Hum Genet, 2002 Oct. PMID 12215968, Free PMC Article
    3. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. de Lonlay P, et al. Nat Genet, 2001 Sep. PMID 11528392
    4. Characterization of the mitochondrial protein LETM1, which maintains the mitochondrial tubular shapes and interacts with the AAA-ATPase BCS1L. Tamai S, et al. J Cell Sci, 2008 Aug 1. PMID 18628306
    5. A mitochondrial protein compendium elucidates complex I disease biology. Pagliarini DJ, et al. Cell, 2008 Jul 11. PMID 18614015, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC94495

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    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
    		  
    acts_upstream_of_or_within mitochondrial respiratory chain complex III assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    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
    		  
    Component Evidence Code Pubs
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    mitochondrial chaperone BCS1
    Names
    BC1 (ubiquinol-cytochrome c reductase) synthesis-like

    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_001007666.1 → NP_001007667.1  mitochondrial chaperone BCS1

      See identical proteins and their annotated locations for NP_001007667.1

      Status: PROVISIONAL

      Source sequence(s)
      BC083660
      UniProtKB/TrEMBL
      A0A8I6G9R3, A6JVV4, F7F265, Q5XIM0
      Related
      ENSRNOP00000022632.3, ENSRNOT00000022632.7
      Conserved Domains (2) summary
      smart01024
      Location:24 → 191
      BCS1_N; This domain is found at the N terminal of the mitochondrial ATPase BCS1. It encodes the import and intramitochondrial sorting for the protein
      cd19510
      Location:201 → 353
      RecA-like_BCS1; Mitochondrial chaperone BCS1

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086027.1 Reference GRCr8

      Range
      83614045..83618052
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017596370.3 → XP_017451859.1  mitochondrial chaperone BCS1 isoform X1

      UniProtKB/TrEMBL
      A0A8I6G9R3, A6JVV4, F7F265, Q5XIM0
      Conserved Domains (2) summary
      smart01024
      Location:24 → 191
      BCS1_N; This domain is found at the N terminal of the mitochondrial ATPase BCS1. It encodes the import and intramitochondrial sorting for the protein
      cd19510
      Location:201 → 353
      RecA-like_BCS1; Mitochondrial chaperone BCS1
    Nucleotide Protein Strain
    Heading Accession and Version

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