SURF1

From Wikipedia, the free encyclopedia

Surfeit 1

Identifiers

External IDs

OMIM: 185620 MGI: 98443 HomoloGene: 2387

Gene ontology
Molecular Function:	• cytochrome-c oxidase activity
Cellular Component:	• mitochondrion • mitochondrial respiratory chain • membrane • integral to membrane
Biological Process:	• electron transport • cytochrome c oxidase complex assembly • aerobic respiration

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_003172 (mRNA)
NP_003163 (protein)

NM_013677 (mRNA)
NP_038705 (protein)

Location

Chr 9: 135.21 - 135.21 Mb

Chr 2: 26.74 - 26.74 Mb

Pubmed search

[1]

[2]

Surfeit 1, also known as SURF1, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: SURF1 surfeit 1.

[edit] Further reading

Shoubridge EA (2001). "Cytochrome c oxidase deficiency.". Am. J. Med. Genet. 106 (1): 46-52. doi:10.1002/ajmg.1378. 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. PMID 7702754.
Yon J, Jones T, Garson K, et al. (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.
Duhig T, Ruhrberg C, Mor O, Fried M (1999). "The human Surfeit locus.". Genomics 52 (1): 72-8. doi:10.1006/geno.1998.5372. PMID 9740673.
Zhu Z, Yao J, Johns T, et al. (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:10.1038/3804. PMID 9843204.
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. 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. 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. 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:10.1002/humu.1112. 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. 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:10.1073/pnas.242603899. 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:10.1074/jbc.M309232200. 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:10.1002/ajmg.a.30073. 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:10.1101/gr.2596504. 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:10.1074/jbc.C500061200. PMID 15764605.