BCS1L

BCS1-like (yeast)
Identifiers
Symbols	BCS1L ; BCS; BCS1; FLNMS; GRACILE; Hs.6719; h-BCS
External IDs	Template:OMIM5 Template:MGI HomoloGene: 3193
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

BCS1-like (yeast), also known as BCS1L, is a human gene.

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. Two alternatively spliced transcripts encoding the same protein have been described.

Further reading

• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. PMID 8125298.
• Fölsch H, Guiard B, Neupert W, Stuart RA (1996). "Internal targeting signal of the BCS1 protein: a novel mechanism of import into mitochondria". EMBO J. 15 (3): 479–87. PMID 8599931.CS1 maint: Multiple names: authors list (link)
• Andersson B, Wentland MA, Ricafrente JY; et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Yu W, Andersson B, Worley KC; et al. (1997). "Large-scale concatenation cDNA sequencing". Genome Res. 7 (4): 353–8. PMID 9110174.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K; et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. PMID 9373149.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lubianca Neto JF, Lu L, Eavey RD; et al. (1998). "The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36". Am. J. Hum. Genet. 62 (5): 1107–12. PMID 9545407.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Visapää I, Fellman V, Varilo T; et al. (1998). "Assignment of the locus for a new lethal neonatal metabolic syndrome to 2q33-37". Am. J. Hum. Genet. 63 (5): 1396–403. PMID 9792866.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Petruzzella V, Tiranti V, Fernandez P; et al. (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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• de Lonlay P, Valnot I, Barrientos A; et al. (2001). "A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure". Nat. Genet. 29 (1): 57–60. doi:10.1038/ng706. PMID 11528392.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Visapää I, Fellman V, Vesa J; et al. (2002). "GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L". Am. J. Hum. Genet. 71 (4): 863–76. PMID 12215968.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kimura K, Wakamatsu A, Suzuki Y; et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMID 16344560.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hinson JT, Fantin VR, Schönberger J; et al. (2007). "Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome". N. Engl. J. Med. 356 (8): 809–19. doi:10.1056/NEJMoa055262. PMID 17314340.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Fernandez-Vizarra E, Bugiani M, Goffrini P; et al. (2007). "Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy". Hum. Mol. Genet. 16 (10): 1241–52. doi:10.1093/hmg/ddm072. PMID 17403714.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)