SURF1

Surfeit 1
Identifiers
Symbols	SURF1 ;
External IDs	Template:OMIM5 Template:MGI HomoloGene: 2387
Gene ontology Molecular function 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
File:PBB GE SURF1 204295 at tn.png
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

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

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.

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.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.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)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• 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.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)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)