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

    Gene ID: 617, updated on 20-Apr-2017
    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; Vega:OTTHUMG00000133114
    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]
    Orthologs
    Location:
    2q35
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (218659656..218663443)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (219524379..219528166)

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

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Mitochondrial protein import, organism-specific biosystem (from REACTOME)
      Mitochondrial protein import, organism-specific biosystemA human mitochondrion contains about 1500 proteins, more than 99% of which are encoded in the nucleus, synthesized in the cytosol and imported into the mitochondrion. Proteins are targeted to four lo...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    mitochondrial respiratory chain complex III TAS
    Traceable Author Statement
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    mitochondrial chaperone BCS1
    Names
    BC1 (ubiquinol-cytochrome c reductase) synthesis-like
    BCS1-like protein
    mitochondrial complex III assembly

    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_001079866.1NP_001073335.1  mitochondrial chaperone BCS1 isoform a

      See identical proteins and their annotated locations for NP_001073335.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4, 5, and 7 all encode the same isoform (a).
      Source sequence(s)
      AC079810, AF038195, DA540458
      Consensus CDS
      CCDS2419.1
      UniProtKB/Swiss-Prot
      Q9Y276
      UniProtKB/TrEMBL
      A0A024R467
      Related
      ENSP00000352219.3, OTTHUMP00000206493, ENST00000359273.7, OTTHUMT00000336753
      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_001257342.1NP_001244271.1  mitochondrial chaperone BCS1 isoform a

      See identical proteins and their annotated locations for NP_001244271.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4, 5, and 7 all encode the same isoform (a).
      Source sequence(s)
      AF038195, AK289363, DA613959
      Consensus CDS
      CCDS2419.1
      UniProtKB/Swiss-Prot
      Q9Y276
      UniProtKB/TrEMBL
      A0A024R467, A8JZZ8
      Related
      ENSP00000375958.2, OTTHUMP00000206492, ENST00000392110.6, OTTHUMT00000336752
      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)
    3. NM_001257343.1NP_001244272.1  mitochondrial chaperone BCS1 isoform a

      See identical proteins and their annotated locations for NP_001244272.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4, 5, and 7 all encode the same isoform (a).
      Source sequence(s)
      AF038195, BX571752, DA613959
      Consensus CDS
      CCDS2419.1
      UniProtKB/Swiss-Prot
      Q9Y276
      UniProtKB/TrEMBL
      A0A024R467
      Related
      ENSP00000375957.1, OTTHUMP00000164147, ENST00000392109.5, OTTHUMT00000256780
      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)
    4. NM_001257344.1NP_001244273.1  mitochondrial chaperone BCS1 isoform a

      See identical proteins and their annotated locations for NP_001244273.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4, 5, and 7 all encode the same isoform (a).
      Source sequence(s)
      AF026849, AF038195, DA613959
      Consensus CDS
      CCDS2419.1
      UniProtKB/Swiss-Prot
      Q9Y276
      UniProtKB/TrEMBL
      A0A024R467
      Related
      ENSP00000406494.1, OTTHUMP00000206494, ENST00000412366.5, OTTHUMT00000336754
      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)
    5. NM_001318836.1NP_001305765.1  mitochondrial chaperone BCS1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks two alternate exons compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a.
      Source sequence(s)
      AC009974, BP215082, BX571752, DA613959
      UniProtKB/Swiss-Prot
      Q9Y276
      Conserved Domains (3) summary
      smart00382
      Location:103234
      AAA; ATPases associated with a variety of cellular activities
      pfam00004
      Location:106235
      AAA; ATPase family associated with various cellular activities (AAA)
      cl07381
      Location:271
      BCS1_N; BCS1 N terminal
    6. NM_001320717.1NP_001307646.1  mitochondrial chaperone BCS1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4, 5, and 7 all encode the same isoform (a).
      Source sequence(s)
      BC007500, CB159298, DA613959
      Consensus CDS
      CCDS2419.1
      UniProtKB/Swiss-Prot
      Q9Y276
      UniProtKB/TrEMBL
      A0A024R467
      Related
      ENSP00000404999.1, OTTHUMP00000206495, ENST00000439945.5, OTTHUMT00000336755
      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)
    7. NM_004328.4NP_004319.1  mitochondrial chaperone BCS1 isoform a

      See identical proteins and their annotated locations for NP_004319.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1, 2, 3, 4, 5, and 7 all encode the same isoform (a).
      Source sequence(s)
      AC079810, BC000416
      Consensus CDS
      CCDS2419.1
      UniProtKB/Swiss-Prot
      Q9Y276
      UniProtKB/TrEMBL
      A0A024R467
      Related
      ENSP00000375959.2, OTTHUMP00000206497, ENST00000392111.6, OTTHUMT00000336757
      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: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

      Range
      218659656..218663443
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017004633.1XP_016860122.1  mitochondrial chaperone BCS1 isoform X2

      Conserved Domains (3) summary
      smart00382
      Location:56187
      AAA; ATPases associated with a variety of cellular activities
      pfam00004
      Location:59188
      AAA; ATPase family associated with various cellular activities (AAA)
      cl07381
      Location:124
      BCS1_N; BCS1 N terminal
    2. XM_005246749.3XP_005246806.1  mitochondrial chaperone BCS1 isoform X2

      See identical proteins and their annotated locations for XP_005246806.1

      Conserved Domains (3) summary
      smart00382
      Location:56187
      AAA; ATPases associated with a variety of cellular activities
      pfam00004
      Location:59188
      AAA; ATPase family associated with various cellular activities (AAA)
      cl07381
      Location:124
      BCS1_N; BCS1 N terminal
    3. XM_017004631.1XP_016860120.1  mitochondrial chaperone BCS1 isoform X1

      UniProtKB/Swiss-Prot
      Q9Y276
      UniProtKB/TrEMBL
      A0A024R467
      Related
      ENSP00000413908.1, OTTHUMP00000206496, ENST00000431802.5, OTTHUMT00000336756
      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)
    4. XM_017004632.1XP_016860121.1  mitochondrial chaperone BCS1 isoform X1

      UniProtKB/Swiss-Prot
      Q9Y276
      UniProtKB/TrEMBL
      A0A024R467
      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)
    5. XM_017004634.1XP_016860123.1  mitochondrial chaperone BCS1 isoform X2

      Conserved Domains (3) summary
      smart00382
      Location:56187
      AAA; ATPases associated with a variety of cellular activities
      pfam00004
      Location:59188
      AAA; ATPase family associated with various cellular activities (AAA)
      cl07381
      Location:124
      BCS1_N; BCS1 N terminal
    6. XM_005246748.2XP_005246805.1  mitochondrial chaperone BCS1 isoform X2

      See identical proteins and their annotated locations for XP_005246805.1

      Conserved Domains (3) summary
      smart00382
      Location:56187
      AAA; ATPases associated with a variety of cellular activities
      pfam00004
      Location:59188
      AAA; ATPase family associated with various cellular activities (AAA)
      cl07381
      Location:124
      BCS1_N; BCS1 N terminal
    7. XM_006712678.1XP_006712741.1  mitochondrial chaperone BCS1 isoform X1

      See identical proteins and their annotated locations for XP_006712741.1

      UniProtKB/Swiss-Prot
      Q9Y276
      UniProtKB/TrEMBL
      A0A024R467
      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)

    RNA

    1. XR_427105.2 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      219531354..219535141
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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