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BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like [ Homo sapiens (human) ]

Gene ID: 617, updated on 22-Nov-2014
Official Symbol
BCS1Lprovided by HGNC
Official Full Name
BC1 (ubiquinol-cytochrome c reductase) synthesis-likeprovided by HGNC
Primary source
HGNC:HGNC:1020
See related
Ensembl:ENSG00000074582; HPRD:04708; 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; 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. Five alternatively spliced transcripts encoding the same protein have been described. [provided by RefSeq, Mar 2012]
See BCS1L in Epigenomics, MapViewer
Location:
2q33
Exon count:
9
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 uncharacterized LOC102723421 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 family, member 4

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
mitochondrial chaperone BCS1
h-BCS1
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 

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

mRNA and Protein(s)

  1. NM_001079866.1NP_001073335.1  mitochondrial chaperone BCS1

    See proteins identical to NP_001073335.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All five variants encode the same protein.
    Source sequence(s)
    AC079810, AF038195, DA540458
    Consensus CDS
    CCDS2419.1
    UniProtKB/TrEMBL
    A0A024R467
    UniProtKB/Swiss-Prot
    Q9Y276
    Related
    ENSP00000352219, OTTHUMP00000206493, ENST00000359273, OTTHUMT00000336753
    Conserved Domains (3) summary
    cd00009
    Location:199355
    AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
    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
  2. NM_001257342.1NP_001244271.1  mitochondrial chaperone BCS1

    See proteins identical to NP_001244271.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All five variants encode the same protein.
    Source sequence(s)
    AF038195, AK289363, DA613959
    Consensus CDS
    CCDS2419.1
    UniProtKB/TrEMBL
    A0A024R467
    UniProtKB/TrEMBL
    A8JZZ8
    UniProtKB/Swiss-Prot
    Q9Y276
    Related
    ENSP00000375958, OTTHUMP00000206492, ENST00000392110, OTTHUMT00000336752
    Conserved Domains (3) summary
    cd00009
    Location:199355
    AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
    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
  3. NM_001257343.1NP_001244272.1  mitochondrial chaperone BCS1

    See proteins identical to NP_001244272.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. All five variants encode the same protein.
    Source sequence(s)
    AF038195, BX571752, DA613959
    Consensus CDS
    CCDS2419.1
    UniProtKB/TrEMBL
    A0A024R467
    UniProtKB/Swiss-Prot
    Q9Y276
    Related
    ENSP00000375957, OTTHUMP00000164147, ENST00000392109, OTTHUMT00000256780
    Conserved Domains (3) summary
    cd00009
    Location:199355
    AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
    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
  4. NM_001257344.1NP_001244273.1  mitochondrial chaperone BCS1

    See proteins identical to NP_001244273.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. All five variants encode the same protein.
    Source sequence(s)
    AF026849, AF038195, DA613959
    Consensus CDS
    CCDS2419.1
    UniProtKB/TrEMBL
    A0A024R467
    UniProtKB/Swiss-Prot
    Q9Y276
    Related
    ENSP00000406494, OTTHUMP00000206494, ENST00000412366, OTTHUMT00000336754
    Conserved Domains (3) summary
    cd00009
    Location:199355
    AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
    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
  5. NM_004328.4NP_004319.1  mitochondrial chaperone BCS1

    See proteins identical to NP_004319.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. All five variants encode the same protein.
    Source sequence(s)
    AC079810, BC000416
    Consensus CDS
    CCDS2419.1
    UniProtKB/TrEMBL
    A0A024R467
    UniProtKB/Swiss-Prot
    Q9Y276
    Related
    ENSP00000375959, OTTHUMP00000206497, ENST00000392111, OTTHUMT00000336757
    Conserved Domains (3) summary
    cd00009
    Location:199355
    AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
    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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Alternate HuRef

Genomic

  1. AC_000134.1 

    Range
    211377868..211381655
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000002.12 

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

mRNA and Protein(s)

  1. XM_005246749.2XP_005246806.1  

    See proteins identical to XP_005246806.1

    Conserved Domains (3) summary
    cd00009
    Location:32188
    AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
    smart00382
    Location:56187
    AAA; ATPases associated with a variety of cellular activities
    cl07381
    Location:124
    BCS1_N; BCS1 N terminal
  2. XM_005246747.2XP_005246804.1  

    See proteins identical to XP_005246804.1

    UniProtKB/TrEMBL
    A0A024R467
    UniProtKB/Swiss-Prot
    Q9Y276
    Related
    ENSP00000413908, OTTHUMP00000206496, ENST00000431802, OTTHUMT00000336756
    Conserved Domains (3) summary
    cd00009
    Location:199355
    AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
    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
  3. XM_006712678.1XP_006712741.1  

    See proteins identical to XP_006712741.1

    UniProtKB/TrEMBL
    A0A024R467
    UniProtKB/Swiss-Prot
    Q9Y276
    Conserved Domains (3) summary
    cd00009
    Location:199355
    AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
    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
  4. XM_005246748.1XP_005246805.1  

    See proteins identical to XP_005246805.1

    Conserved Domains (3) summary
    cd00009
    Location:32188
    AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
    smart00382
    Location:56187
    AAA; ATPases associated with a variety of cellular activities
    cl07381
    Location:124
    BCS1_N; BCS1 N terminal

RNA

  1. XR_427105.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 

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