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    BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone [ Homo sapiens (human) ]

    Gene ID: 617, updated on 8-Jul-2021

    Summary

    Official Symbol
    BCS1Lprovided by HGNC
    Official Full Name
    BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperoneprovided by HGNC
    Primary source
    HGNC:HGNC:1020
    See related
    Ensembl:ENSG00000074582 MIM:603647
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BCS; BJS; PTD; BCS1; FLNMS; h-BCS; MC3DN1; h-BCS1; GRACILE; Hs.6719
    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. Several alternatively spliced transcripts encoding two different isoforms have been described. [provided by RefSeq, Jan 2016]
    Expression
    Ubiquitous expression in skin (RPKM 9.0), ovary (RPKM 7.2) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See BCS1L in Genome Data Viewer
    Location:
    2q35
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (218659683..218663443)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (219524406..219528166)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene phospholipase C delta 4 Neighboring gene tRNA-Gln (anticodon CTG) 16-1 Neighboring gene zinc finger protein 142 Neighboring gene ring finger protein 25 Neighboring gene serine/threonine kinase 36

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of mitochondrial respiratory chain complex III TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    mitochondrial chaperone BCS1
    Names
    BC1 (ubiquinol-cytochrome c reductase) synthesis-like
    BCS1-like protein
    mitochondrial complex III assembly

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_008018.1 RefSeqGene

      Range
      5001..8788
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_539

    mRNA and Protein(s)

    1. NM_001079866.2NP_001073335.1  mitochondrial chaperone BCS1 isoform a

      See identical proteins and their annotated locations for NP_001073335.1

      Status: REVIEWED

      Source sequence(s)
      AF038195, DA540458
      Consensus CDS
      CCDS2419.1
      UniProtKB/Swiss-Prot
      Q9Y276
      UniProtKB/TrEMBL
      A0A024R467
      Related
      ENSP00000352219.3, ENST00000359273.8
      Conserved Domains (2) summary
      smart01024
      Location:24191
      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:201353
      RecA-like_BCS1; Mitochondrial chaperone BCS1
    2. NM_001257342.2NP_001244271.1  mitochondrial chaperone BCS1 isoform a

      See identical proteins and their annotated locations for NP_001244271.1

      Status: REVIEWED

      Source sequence(s)
      AF038195, AK289363, DA613959
      Consensus CDS
      CCDS2419.1
      UniProtKB/Swiss-Prot
      Q9Y276
      UniProtKB/TrEMBL
      A0A024R467, A8JZZ8
      Related
      ENSP00000375958.2, ENST00000392110.6
      Conserved Domains (2) summary
      smart01024
      Location:24191
      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:201353
      RecA-like_BCS1; Mitochondrial chaperone BCS1
    3. NM_001257343.2NP_001244272.1  mitochondrial chaperone BCS1 isoform a

      See identical proteins and their annotated locations for NP_001244272.1

      Status: REVIEWED

      Source sequence(s)
      AF038195, BX571752, DA613959
      Consensus CDS
      CCDS2419.1
      UniProtKB/Swiss-Prot
      Q9Y276
      UniProtKB/TrEMBL
      A0A024R467
      Related
      ENSP00000375957.1, ENST00000392109.5
      Conserved Domains (2) summary
      smart01024
      Location:24191
      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:201353
      RecA-like_BCS1; Mitochondrial chaperone BCS1
    4. NM_001257344.2NP_001244273.1  mitochondrial chaperone BCS1 isoform a

      See identical proteins and their annotated locations for NP_001244273.1

      Status: REVIEWED

      Source sequence(s)
      AC009974, AC079810
      Consensus CDS
      CCDS2419.1
      UniProtKB/Swiss-Prot
      Q9Y276
      UniProtKB/TrEMBL
      A0A024R467
      Related
      ENSP00000406494.1, ENST00000412366.5
      Conserved Domains (2) summary
      smart01024
      Location:24191
      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:201353
      RecA-like_BCS1; Mitochondrial chaperone BCS1
    5. NM_001318836.2NP_001305765.1  mitochondrial chaperone BCS1 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC009974, BP215082, BX571752, DA613959
      UniProtKB/Swiss-Prot
      Q9Y276
      Conserved Domains (2) summary
      cd19510
      Location:81233
      RecA-like_BCS1; Mitochondrial chaperone BCS1
      cl07381
      Location:271
      BCS1_N; BCS1 N terminal
    6. NM_001320717.2NP_001307646.1  mitochondrial chaperone BCS1 isoform a

      Status: REVIEWED

      Source sequence(s)
      BC007500, CB159298, DA613959
      Consensus CDS
      CCDS2419.1
      UniProtKB/Swiss-Prot
      Q9Y276
      UniProtKB/TrEMBL
      A0A024R467
      Related
      ENSP00000404999.1, ENST00000439945.5
      Conserved Domains (2) summary
      smart01024
      Location:24191
      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:201353
      RecA-like_BCS1; Mitochondrial chaperone BCS1
    7. NM_001371443.1NP_001358372.1  mitochondrial chaperone BCS1 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC009974, AC079810
      Conserved Domains (2) summary
      smart01024
      Location:24191
      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:201353
      RecA-like_BCS1; Mitochondrial chaperone BCS1
    8. NM_001371444.1NP_001358373.1  mitochondrial chaperone BCS1 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC009974, AC079810
      Conserved Domains (2) summary
      smart01024
      Location:24191
      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:201353
      RecA-like_BCS1; Mitochondrial chaperone BCS1
    9. NM_001371446.1NP_001358375.1  mitochondrial chaperone BCS1 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC009974, AC079810
      Conserved Domains (2) summary
      smart01024
      Location:24191
      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:201353
      RecA-like_BCS1; Mitochondrial chaperone BCS1
    10. NM_001371447.1NP_001358376.1  mitochondrial chaperone BCS1 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC009974, AC079810
      Conserved Domains (2) summary
      smart01024
      Location:24191
      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:201353
      RecA-like_BCS1; Mitochondrial chaperone BCS1
    11. NM_001371448.1NP_001358377.1  mitochondrial chaperone BCS1 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC009974, AC079810
      Conserved Domains (2) summary
      smart01024
      Location:24191
      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:201353
      RecA-like_BCS1; Mitochondrial chaperone BCS1
    12. NM_001371449.1NP_001358378.1  mitochondrial chaperone BCS1 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC009974, AC079810
      Conserved Domains (2) summary
      smart01024
      Location:24191
      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:201353
      RecA-like_BCS1; Mitochondrial chaperone BCS1
    13. NM_001371450.1NP_001358379.1  mitochondrial chaperone BCS1 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC009974, AC079810
      Related
      ENSP00000413908.1, ENST00000431802.5
      Conserved Domains (2) summary
      smart01024
      Location:24191
      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:201353
      RecA-like_BCS1; Mitochondrial chaperone BCS1
    14. NM_001371451.1NP_001358380.1  mitochondrial chaperone BCS1 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC009974, AC079810
      Conserved Domains (2) summary
      cd19510
      Location:81233
      RecA-like_BCS1; Mitochondrial chaperone BCS1
      cl07381
      Location:271
      BCS1_N; BCS1 N terminal
    15. NM_001371452.1NP_001358381.1  mitochondrial chaperone BCS1 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC009974, AC079810
      Related
      ENST00000477422.5
      Conserved Domains (2) summary
      cd19510
      Location:34186
      RecA-like_BCS1; Mitochondrial chaperone BCS1
      cl07381
      Location:124
      BCS1_N; BCS1 N terminal
    16. NM_001371453.1NP_001358382.1  mitochondrial chaperone BCS1 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC009974, AC079810
      Conserved Domains (2) summary
      cd19510
      Location:34186
      RecA-like_BCS1; Mitochondrial chaperone BCS1
      cl07381
      Location:124
      BCS1_N; BCS1 N terminal
    17. NM_001371454.1NP_001358383.1  mitochondrial chaperone BCS1 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC009974, AC079810
      Conserved Domains (2) summary
      cd19510
      Location:34186
      RecA-like_BCS1; Mitochondrial chaperone BCS1
      cl07381
      Location:124
      BCS1_N; BCS1 N terminal
    18. NM_001371455.1NP_001358384.1  mitochondrial chaperone BCS1 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC009974, AC079810
      Conserved Domains (2) summary
      cd19510
      Location:34186
      RecA-like_BCS1; Mitochondrial chaperone BCS1
      cl07381
      Location:124
      BCS1_N; BCS1 N terminal
    19. NM_001371456.1NP_001358385.1  mitochondrial chaperone BCS1 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC009974, AC079810
      Conserved Domains (2) summary
      cd19510
      Location:34186
      RecA-like_BCS1; Mitochondrial chaperone BCS1
      cl07381
      Location:124
      BCS1_N; BCS1 N terminal
    20. NM_001374085.1NP_001361014.1  mitochondrial chaperone BCS1 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC009974, AC079810
      Conserved Domains (2) summary
      smart01024
      Location:24191
      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:201353
      RecA-like_BCS1; Mitochondrial chaperone BCS1
    21. NM_001374086.1NP_001361015.1  mitochondrial chaperone BCS1 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC009974, AC079810
      Conserved Domains (2) summary
      cd19510
      Location:34186
      RecA-like_BCS1; Mitochondrial chaperone BCS1
      cl07381
      Location:124
      BCS1_N; BCS1 N terminal
    22. NM_004328.5NP_004319.1  mitochondrial chaperone BCS1 isoform a

      See identical proteins and their annotated locations for NP_004319.1

      Status: REVIEWED

      Source sequence(s)
      AC009974, AC079810
      Consensus CDS
      CCDS2419.1
      UniProtKB/Swiss-Prot
      Q9Y276
      UniProtKB/TrEMBL
      A0A024R467
      Related
      ENSP00000375959.2, ENST00000392111.7
      Conserved Domains (2) summary
      smart01024
      Location:24191
      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:201353
      RecA-like_BCS1; Mitochondrial chaperone BCS1

    RNA

    1. NR_163955.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC009974, AC079810

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      218659683..218663443
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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