BCS1L
From Wikipedia, the free encyclopedia
| BC1 (ubiquinol-cytochrome c reductase) synthesis-like | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | BCS1L; BCS; BCS1; BJS; FLNMS; GRACILE; Hs.6719; MC3DN1; PTD; h-BCS | ||||||||||||
| External IDs | OMIM: 603647 MGI: 1914071 HomoloGene: 3193 GeneCards: BCS1L Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| Orthologs | |||||||||||||
| 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: 219.52 – 219.53 Mb | Chr 1: 74.59 – 74.59 Mb | |||||||||||
| PubMed search | |||||||||||||
| BCS1 N-terminal domain | |||||||||
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| Identifiers | |||||||||
| Symbol | BCS1_N | ||||||||
| Pfam | PF08740 | ||||||||
| InterPro | IPR014851 | ||||||||
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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
- ↑ 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.
- ↑ 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.
- ↑ 3.0 3.1 "Entrez Gene: BCS1L BCS1-like (yeast)".
- ↑ 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. PMC 150725. PMID 12640110.
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. doi:10.1016/0378-1119(94)90802-8. 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. PMC 449966. 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. doi:10.1101/gr.7.4.353. PMC 139146. 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. doi:10.1016/S0378-1119(97)00411-3. 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. doi:10.1086/301837. PMC 1377094. 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. doi:10.1086/302123. PMC 1377549. PMID 9792866.
- 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. doi:10.1086/342773. PMC 378542. 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. PMC 139241. 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. PMC 528928. 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. PMC 1356129. PMID 16344560.
- 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.
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