• Gene id: 617

Gene Summary

• Gene Symbol: BCS1L   Gene   UCSC   Ensembl
• Aliases: BCS, BCS1, BJS, FLNMS, GRACILE, Hs.6719, MC3DN1, PTD, h-BCS, h-BCS1
• Gene name: BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
• Alternate names: mitochondrial chaperone BCS1, BC1 (ubiquinol-cytochrome c reductase) synthesis-like, BCS1-like protein, mitochondrial complex III assembly,
• Gene location: 2q35 (218659682: 218663442)     Exons: 8     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 603647

SNPs

rs3747052

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.19131479A>G
NC_000022.11   g.19131479A>T
NC_000022.10   g.19118992A>G
NC_000022.10   g.19118992A>T
NG_008320.1   g.18199T>C
NG_008320.1   g.18199T>A
NM_022719.3   c.*2717T>C
NM_022719.3   c.*2717T>A
NM_022719.2   c.*2717T>C
NM_022719.2   c.*2717T>A
NR_1  

rs1052756

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.19132173C>T
NC_000022.10   g.19119686C>T
NG_008320.1   g.17505G>A
NM_022719.3   c.*2023G>A
NM_022719.2   c.*2023G>A
NR_134304.2   n.3542G>A
NR_134304.1   n.3568G>A
NM_053006.5   c.774C>T
NM_053006.4   c.774C>T|SEQ=[C/T]|GENE=ESS2
TSSK2   23617

rs1052763

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.19132238C>T
NC_000022.10   g.19119751C>T
NG_008320.1   g.17440G>A
NM_022719.3   c.*1958G>A
NM_022719.2   c.*1958G>A
NR_134304.2   n.3477G>A
NR_134304.1   n.3503G>A
NM_053006.5   c.839C>T
NM_053006.4   c.839C>T
NP_443732.3   p.Thr280Met|SEQ=[C/T]|GENE=ES

rs1052773

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.19132425G>A
NC_000022.10   g.19119938G>A
NG_008320.1   g.17253C>T
NM_022719.3   c.*1771C>T
NM_022719.2   c.*1771C>T
NR_134304.2   n.3290C>T
NR_134304.1   n.3316C>T
NM_053006.5   c.1026G>A
NM_053006.4   c.1026G>A|SEQ=[G/A]|GENE=ESS2
TSSK2   23617

Protein Summary

• Protein general information: Q9Y276  
  • Name: Mitochondrial chaperone BCS1 (h BCS1) (BCS1 like protein)
  • Length: 419  
  • Mass: 47534
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MPLSDFILALKDNPYFGAGFGLVGVGTALALARKGVQLGLVAFRRHYMITLEVPARDRSYAWLLSWLTRHSTRTQ
  HLSVETSYLQHESGRISTKFEFVPSPGNHFIWYRGKWIRVERSREMQMIDLQTGTPWESVTFTALGTDRKVFFNI
  LEEARELALQQEEGKTVMYTAVGSEWRPFGYPRRRRPLNSVVLQQGLADRIVRDVQEFIDNPKWYTDRGIPYRRG
  YLLYGPPGCGKSSFITALAGELEHSICLLSLTDSSLSDDRLNHLLSVAPQQSLVLLEDVDAAFLSRDLAVENPVK
  YQGLGRLTFSGLLNALDGVASTEARIVFMTTNHVDRLDPALIRPGRVDLKEYVGYCSHWQLTQMFQRFYPGQAPS
  LAENFAEHVLRATNQISPAQVQGYFMLYKNDPVGAIHNAESLRR

• Structural information:
  • Interpro: IPR003593  IPR003959  IPR003960  IPR027243  IPR014851   IPR027417  
  • Prosite: PS00674
  • STRING: ENSP00000413908
• Other Databases: GeneCards:  BCS1L  Malacards:  BCS1L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032979	protein insertion into mitochondrial inner membrane from matrix	IBA	biological process
GO:0034551	mitochondrial respiratory chain complex III assembly	IBA	biological process
GO:0005743	mitochondrial inner membrane	IBA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0007005	mitochondrion organization	IMP	biological process
GO:0033617	mitochondrial cytochrome c oxidase assembly	IMP	biological process
GO:0032981	mitochondrial respiratory chain complex I assembly	IMP	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0034551	mitochondrial respiratory chain complex III assembly	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005750	mitochondrial respiratory chain complex III	TAS	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0034551	mitochondrial respiratory chain complex III assembly	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0034551	mitochondrial respiratory chain complex III assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Leigh syndrome	KEGG:H01354
Mitochondrial complex III deficiency	KEGG:H02086
Bjornstad syndrome	KEGG:H00820
GRACILE syndrome	KEGG:H02007
Leigh syndrome	KEGG:H01354
Mitochondrial complex III deficiency	KEGG:H02086
Bjornstad syndrome	KEGG:H00820
GRACILE syndrome	KEGG:H02007
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)