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| Surfeit 1 | ||||||||||||||
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| Identifiers | ||||||||||||||
| Symbols | SURF1; | |||||||||||||
| External IDs | OMIM: 185620 MGI: 98443 HomoloGene: 2387 | |||||||||||||
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| RNA expression pattern | ||||||||||||||
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| More reference expression data | ||||||||||||||
| Orthologs | ||||||||||||||
| Species | Human | Mouse | ||||||||||||
| Entrez | 6834 | 20930 | ||||||||||||
| Ensembl | ENSG00000148290 | ENSMUSG00000015790 | ||||||||||||
| UniProt | Q15526 | Q3U3J6 | ||||||||||||
| RefSeq | NM_003172 (mRNA) | NM_013677 (mRNA) | ||||||||||||
| NP_003163 (protein) | NP_038705 (protein) | |||||||||||||
| Location | Chr 9: 135.21 - 135.21 Mb |
Chr 2: 26.74 - 26.74 Mb |
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| PubMed search | [1] | [2] | ||||||||||||
Surfeit locus protein 1 is a protein that in humans is encoded by the SURF1 gene.[1][2][3]
This gene encodes a protein localized to the inner mitochondrial membrane and thought to be involved in the biogenesis of the cytochrome c oxidase complex. The protein is a member of the SURF1 family, which includes the related yeast protein SHY1 and rickettsial protein RP733. The gene is located in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity, where it shares a bidirectional promoter with SURF2 on the opposite strand. Defects in this gene are a cause of Leigh syndrome, a severe neurological disorder that is commonly associated with systemic cytochrome c oxidase deficiency.[3]
References
- ^ Yon J, Jones T, Garson K, Sheer D, Fried M (Jun 1993). "The organization and conservation of the human Surfeit gene cluster and its localization telomeric to the c-abl and can proto-oncogenes at chromosome band 9q34.1". Hum Mol Genet 2 (3): 237-40. PMID 8499913.
- ^ Zhu Z, Yao J, Johns T, Fu K, De Bie I, Macmillan C, Cuthbert AP, Newbold RF, Wang J, Chevrette M, Brown GK, Brown RM, Shoubridge EA (Dec 1998). "SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome". Nat Genet 20 (4): 337-43. doi:. PMID 9843204.
- ^ a b "Entrez Gene: SURF1 surfeit 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6834.
Further reading
- Shoubridge EA (2001). "Cytochrome c oxidase deficiency.". Am. J. Med. Genet. 106 (1): 46–52. doi:. PMID 11579424.
- Lennard A, Gaston K, Fried M (1995). "The Surf-1 and Surf-2 genes and their essential bidirectional promoter elements are conserved between mouse and human.". DNA Cell Biol. 13 (11): 1117–26. doi:. PMID 7702754.
- Duhig T, Ruhrberg C, Mor O, Fried M (1999). "The human Surfeit locus.". Genomics 52 (1): 72–8. doi:. PMID 9740673.
- Yao J, Shoubridge EA (2000). "Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency.". Hum. Mol. Genet. 8 (13): 2541–9. doi:. PMID 10556303.
- Teraoka M, Yokoyama Y, Ninomiya S, et al. (2000). "Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency.". Hum. Genet. 105 (6): 560–3. doi:. PMID 10647889.
- Poyau A, Buchet K, Bouzidi MF, et al. (2000). "Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients.". Hum. Genet. 106 (2): 194–205. doi:. PMID 10746561.
- Péquignot MO, Dey R, Zeviani M, et al. (2001). "Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency.". Hum. Mutat. 17 (5): 374–81. doi:. PMID 11317352.
- Ogawa Y, Naito E, Ito M, et al. (2002). "Three novel SURF-1 mutations in Japanese patients with Leigh syndrome.". Pediatr. Neurol. 26 (3): 196–200. doi:. PMID 11955926.
- 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:. PMID 12477932.
- Capková M, Hansíková H, Godinot C, et al. (2003). "[A new missense mutation of 574C>T in the SURF1 gene--biochemical and molecular genetic study in seven children with Leigh syndrome]". Cas. Lek. Cesk. 141 (20): 636–41. PMID 12515039.
- Sacconi S, Salviati L, Sue CM, et al. (2003). "Mutation screening in patients with isolated cytochrome c oxidase deficiency.". Pediatr. Res. 53 (2): 224–30. PMID 12538779.
- Rossi A, Biancheri R, Bruno C, et al. (2003). "Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings.". AJNR. American journal of neuroradiology 24 (6): 1188–91. PMID 12812953.
- Moslemi AR, Tulinius M, Darin N, et al. (2004). "SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency.". Neurology 61 (7): 991–3. PMID 14557577.
- Williams SL, Valnot I, Rustin P, Taanman JW (2004). "Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1.". J. Biol. Chem. 279 (9): 7462–9. doi:. PMID 14607829.
- Salviati L, Freehauf C, Sacconi S, et al. (2005). "Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome.". Am. J. Med. Genet. A 128 (2): 195–8. doi:. PMID 15214016.
- 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:. PMID 15489334.
- Smith D, Gray J, Mitchell L, et al. (2005). "Assembly of cytochrome-c oxidase in the absence of assembly protein Surf1p leads to loss of the active site heme.". J. Biol. Chem. 280 (18): 17652–6. doi:. PMID 15764605.
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