BCS1L

BC1 (ubiquinol-cytochrome c reductase) synthesis-like
Identifiers
SymbolsBCS1L ; BCS; BCS1; BJS; FLNMS; GRACILE; Hs.6719; MC3DN1; PTD; h-BCS
External IDsOMIM: 603647 MGI: 1914071 HomoloGene: 3193 GeneCards: BCS1L Gene
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez61766821
EnsemblENSG00000074582ENSMUSG00000026172
UniProtQ9Y276Q9CZP5
RefSeq (mRNA)NM_001079866NM_025784
RefSeq (protein)NP_001073335NP_080060
Location (UCSC)Chr 2:
218.66 – 218.66 Mb
Chr 1:
74.59 – 74.59 Mb
PubMed search
BCS1 N-terminal domain
Identifiers
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

References

  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. 3.0 3.1 "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.

Further reading