BCS1L

From Wikipedia, the free encyclopedia

BCS1-like (yeast)

Identifiers

BCS1L; BCS; BCS1; FLNMS; GRACILE; Hs.6719; h-BCS

External IDs

OMIM: 603647 MGI: 1914071 HomoloGene: 3193

Gene ontology
Molecular Function:	• nucleotide binding • ATP binding • nucleoside-triphosphatase activity
Cellular Component:	• mitochondrion • mitochondrial respiratory chain complex III • membrane • integral to membrane
Biological Process:	• protein folding • protein complex assembly • energy derivation by oxidation of organic compounds

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_001079866 (mRNA)
NP_001073335 (protein)

NM_025784 (mRNA)
NP_080060 (protein)

Location

Chr 2: 219.23 - 219.24 Mb

Chr 1: 74.52 - 74.53 Mb

Pubmed search

[1]

[2]

BCS1-like (yeast), also known as BCS1L, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: BCS1L BCS1-like (yeast).

[edit] 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.
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.
Yu W, Andersson B, Worley KC, et al. (1997). "Large-scale concatenation cDNA sequencing.". Genome Res. 7 (4): 353–8. PMID 9110174.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.