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

Gene ID: 617, updated on 21-Feb-2019

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

Genomic context

See BCS1L in Genome Data Viewer
Location:
2q35
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial respiratory chain complex III TAS
Traceable Author Statement
more info
PubMed 
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)

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, ENST00000359273.7
    Conserved Domains (2) summary
    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
    cl27568
    Location:3404
    TIP49; TIP49 C-terminus
  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, ENST00000392110.6
    Conserved Domains (2) summary
    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
    cl27568
    Location:3404
    TIP49; TIP49 C-terminus
  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, ENST00000392109.5
    Conserved Domains (2) summary
    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
    cl27568
    Location:3404
    TIP49; TIP49 C-terminus
  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, ENST00000412366.5
    Conserved Domains (2) summary
    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
    cl27568
    Location:3404
    TIP49; TIP49 C-terminus
  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
    pfam00004
    Location:106235
    AAA; ATPase family associated with various cellular activities (AAA)
    cl07381
    Location:271
    BCS1_N; BCS1 N terminal
    cl25701
    Location:66127
    RuvB_N; Holliday junction DNA helicase ruvB N-terminus
  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, ENST00000439945.5
    Conserved Domains (2) summary
    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
    cl27568
    Location:3404
    TIP49; TIP49 C-terminus
  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, ENST00000392111.6
    Conserved Domains (2) summary
    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
    cl27568
    Location:3404
    TIP49; TIP49 C-terminus

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. 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
  2. XM_017004631.1XP_016860120.1  mitochondrial chaperone BCS1 isoform X1

    UniProtKB/Swiss-Prot
    Q9Y276
    UniProtKB/TrEMBL
    A0A024R467
    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 BSC1. It encodes the import and intramitochondrial sorting for the protein
    cl27568
    Location:3404
    TIP49; TIP49 C-terminus
  3. XM_017004632.1XP_016860121.1  mitochondrial chaperone BCS1 isoform X1

    UniProtKB/Swiss-Prot
    Q9Y276
    UniProtKB/TrEMBL
    A0A024R467
    Conserved Domains (2) summary
    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
    cl27568
    Location:3404
    TIP49; TIP49 C-terminus
  4. XM_017004633.2XP_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
  5. XM_017004634.2XP_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_005246748.3XP_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 (2) summary
    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
    cl27568
    Location:3404
    TIP49; TIP49 C-terminus

RNA

  1. XR_427105.3 RNA Sequence

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