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BC1 (ubiquinol-cytochrome c reductase) synthesis-like
Symbols BCS1L ; BCS; BCS1; BJS; FLNMS; GRACILE; Hs.6719; MC3DN1; PTD; h-BCS
External IDs OMIM603647 MGI1914071 HomoloGene3193 GeneCards: BCS1L Gene
RNA expression pattern
PBB GE BCS1L 207618 s at tn.png
More reference expression data
Species Human Mouse
Entrez 617 66821
Ensembl ENSG00000074582 ENSMUSG00000026172
UniProt Q9Y276 Q9CZP5
RefSeq (mRNA) NM_001079866 NM_025784
RefSeq (protein) NP_001073335 NP_080060
Location (UCSC) Chr 2:
218.66 – 218.66 Mb
Chr 1:
74.59 – 74.59 Mb
PubMed search [1] [2]
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.[1][2][3]

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. [4] 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.[3]

See also[edit]


  1. ^ 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. 
  2. ^ 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. 
  3. ^ a b "Entrez Gene: BCS1L BCS1-like (yeast)". 
  4. ^ 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 150725. PMID 12640110.  edit

Further reading[edit]