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Aliases BCS1L, BCS, BCS1, BJS, FLNMS, GRACILE, Hs.6719, MC3DN1, PTD, h-BCS, h-BCS1, BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
External IDs MGI: 1914071 HomoloGene: 3193 GeneCards: BCS1L
Gene location (Human)
Chromosome 2 (human)
Chr. Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for BCS1L
Genomic location for BCS1L
Band 2q35 Start 218,658,764 bp[1]
End 218,663,443 bp[1]
RNA expression pattern
PBB GE BCS1L 207618 s at fs.png
More reference expression data
Species Human Mouse
RefSeq (mRNA)


RefSeq (protein)


Location (UCSC) Chr 2: 218.66 – 218.66 Mb Chr 1: 74.59 – 74.59 Mb
PubMed search [3] [4]
View/Edit Human View/Edit Mouse
BCS1 N-terminal domain
Symbol BCS1_N
Pfam PF08740
InterPro IPR014851

Mitochondrial chaperone BCS1 is a protein that in humans is encoded by the BCS1L gene.[5][6][7]

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. A conserved domain at the N-terminus of BCS1 is responsible for the import and intramitochondrial sorting.[8] Mutations in this gene are associated with mitochondrial complex III deficiency and the GRACILE syndrome. Two alternatively spliced transcripts encoding the same protein have been described.[7]

See also[edit]


  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000074582 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026172 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ Petruzzella V, Tiranti V, Fernandez P, Ianna P, Carrozzo R, Zeviani M (Feb 1999). "Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain". Genomics. 54 (3): 494–504. doi:10.1006/geno.1998.5580. PMID 9878253. 
  6. ^ Hinson JT, Fantin VR, Schonberger J, Breivik N, Siem G, McDonough B, Sharma P, Keogh I, Godinho R, Santos F, Esparza A, Nicolau Y, Selvaag E, Cohen BH, Hoppel CL, Tranebjaerg L, Eavey RD, Seidman JG, Seidman CE (Feb 2007). "Missense mutations in the BCS1L gene as a cause of the Bjornstad syndrome". N Engl J Med. 356 (8): 809–19. doi:10.1056/NEJMoa055262. PMID 17314340. 
  7. ^ a b "Entrez Gene: BCS1L BCS1-like (yeast)". 
  8. ^ Stan, T.; Brix, J.; Schneider-Mergener, J.; Pfanner, N.; Neupert, W.; Rapaport, D. (2003). "Mitochondrial protein import: Recognition of internal import signals of BCS1 by the TOM complex". Molecular and Cellular Biology. 23 (7): 2239–2250. doi:10.1128/mcb.23.7.2239-2250.2003. PMC 150725Freely accessible. PMID 12640110. 

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