The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)



Gene Review

SURF1  -  surfeit 1

Homo sapiens

Synonyms: SURF-1, Surfeit locus protein 1
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of SURF1


Psychiatry related information on SURF1

  • Given the present rate of producing psychiatrists, shifts in demands for psychiatric services, changing payment and access patterns regarding specialty medical care, increasing numbers of nonpsychiatrist mental health professionals, and a probable surfeit of primary care physicians, underemployment of psychiatrists may become commonplace [4].
  • However, it is important to stress that even a calcium surfeit will not prevent or reverse bone loss due to inactivity, gonadal hormone deficiency, alcohol abuse or, indeed, any other factor [5].
  • Satiation corresponds to the set point, deviations below which are called hunger or craving, deviations above which are called surfeit [6].
  • We found three gender-related features of OCD: males show an earlier age at onset with a lower impact of precipitant events in triggering the disorder; OCD seems to occur in a relative high proportion of males who already have phobias and/or tic disorders; and a surfeit of chronic course of the illness in males in comparison with females [7].
  • It appears to be a conglomerate term to encompass chronic anxiety without panic, mild depression without despair, neurasthenia without malaise, a smattering hypochondriasis and a surfeit of illness behavior, all superimposed on passive, dependent individuals with borderline normal intelligence and exposed to profound sociocultural deprivation [8].

High impact information on SURF1


Chemical compound and disease context of SURF1

  • SURF1-mutations were identified in three out of four cases with Leigh syndrome while a mutation in the mitochondrial tRNA (trp) gene was identified in the fourth [14].
  • In Paracoccus denitrificans, the Surf1 homologue is found in the quinol oxidase operon, suggesting that Surf1 is associated with a primitive quinol oxidase which belongs to the same superfamily as cytochrome oxidase [15].

Biological context of SURF1

  • Sequence analysis of SURF1 gene in our three patients revealed seven heterozygous mutations, six of which were new : an insertion, a nonsense mutation, a splicing mutation of intron 7 in addition to three missense mutations [16].
  • The human surfeit locus occupies about 60 kb of DNA, and the tightly clustered gene organization and the juxtaposition of the human genes are similar to the mouse and chicken surfeit loci with the 5' end of each gene associated with a CpG-rich island [17].
  • This allows us to determine the orientation of the Surfeit and ABO loci with respect to each other and to the telomere and centromere of human chromosome 9 [17].
  • A contig of 200 kb containing the human Surfeit locus has been constructed from overlapping cosmid, P1, and PAC clones [17].
  • These results indicate important functions for SURF1 specifically related to COX activity and suggest a crucial role of mitochondrial energy pathways in organogenesis and CNS development and function [18].

Anatomical context of SURF1

  • We studied fibroblast cultures from patients carrying mutations in the assembly factors COX10, SCO1, or SURF1 [19].
  • Surf1p is a protein of the inner membrane of mitochondria that functions in the assembly of cytochrome-c oxidase [20].
  • The same analysis revealed that no protein is present in cell lines harboring loss-of-function mutations of SURF-1, regardless of their type and position [21].
  • The mitochondrial membrane potential was unchanged in KO versus wild-type neurons, suggesting that the effects of the ablation of Surf1 on Ca(2+) homeostasis, and possibly on longevity, may be independent, at least in part, from those on COX assembly and mitochondrial bioenergetics [22].
  • RESULTS: All LS SURF-1 patients had lesions in the brain stem and subthalamic nuclei [23].

Associations of SURF1 with chemical compounds


Regulatory relationships of SURF1

  • A functional YY1 binding site is necessary and sufficient to activate Surf-1 promoter activity in response to serum growth factors [29].

Other interactions of SURF1

  • Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1 [30].
  • Mutations in the homologous human gene (SURF1) have been reported to cause Leigh's syndrome, a neurological disease associated with COX deficiency [31].
  • Human Surf-1 and Surf-2 cDNAs have been cloned and sequenced [32].
  • CONCLUSIONS: The clinical and biochemical phenotypes in COX15 defects are more heterogeneous than in other conditions associated with COX deficiency, such as mutations in SURF1 [33].
  • All of the patients with mutations in SURF-1 had Leigh syndrome, whereas the 3 patients with SCO2 mutations had a combination of encephalopathy and hypertrophic cardiomyopathy, and the neuropathology did not show the typical features of Leigh syndrome [34].

Analytical, diagnostic and therapeutic context of SURF1


  1. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Zhu, Z., Yao, J., Johns, T., Fu, K., De Bie, I., Macmillan, C., Cuthbert, A.P., Newbold, R.F., Wang, J., Chevrette, M., Brown, G.K., Brown, R.M., Shoubridge, E.A. Nat. Genet. (1998) [Pubmed]
  2. Genetic defects of cytochrome c oxidase assembly. Pecina, P., Houstková, H., Hansíková, H., Zeman, J., Houstek, J. Physiological research / Academia Scientiarum Bohemoslovaca. (2004) [Pubmed]
  3. Compulsory hyperventilation and hypocapnia of patients with Leigh syndrome associated with SURF1 gene mutations as a cause of low serum bicarbonates. Pronicka, E., Piekutowska-Abramczuk, D.H., Popowska, E., Pronicki, M., Karczmarewicz, E., Sykut-Cegielskâ, Y., Taybert, J. J. Inherit. Metab. Dis. (2001) [Pubmed]
  4. Are we training too many psychiatrists? Yager, J., Borus, J.F. The American journal of psychiatry. (1987) [Pubmed]
  5. Calcium in the prevention and treatment of osteoporosis. Heaney, R.P. J. Intern. Med. (1992) [Pubmed]
  6. No thanks, I'm good. Any more and I'll be sick: comment on Lynch and Carroll (2001). Killeen, P.R., Reilly, M.P. Experimental and clinical psychopharmacology. (2001) [Pubmed]
  7. Gender-related clinical differences in obsessive-compulsive disorder. Bogetto, F., Venturello, S., Albert, U., Maina, G., Ravizza, L. Eur. Psychiatry (1999) [Pubmed]
  8. "Nerves": a sociomedical diagnosis ... of sorts. Ludwig, A.M. American journal of psychotherapy. (1982) [Pubmed]
  9. Atrial natriuretic hormone, the renin-aldosterone axis, and blood pressure-electrolyte homeostasis. Laragh, J.H. N. Engl. J. Med. (1985) [Pubmed]
  10. Metabolic consequences of dietary trans fatty acids. Mann, G.V. Lancet (1994) [Pubmed]
  11. A surfeit of RAD51-like genes? Thacker, J. Trends Genet. (1999) [Pubmed]
  12. Transient excess of MYC activity can elicit genomic instability and tumorigenesis. Felsher, D.W., Bishop, J.M. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  13. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Tiranti, V., Hoertnagel, K., Carrozzo, R., Galimberti, C., Munaro, M., Granatiero, M., Zelante, L., Gasparini, P., Marzella, R., Rocchi, M., Bayona-Bafaluy, M.P., Enriquez, J.A., Uziel, G., Bertini, E., Dionisi-Vici, C., Franco, B., Meitinger, T., Zeviani, M. Am. J. Hum. Genet. (1998) [Pubmed]
  14. Genotypes and clinical phenotypes in children with cytochrome-c oxidase deficiency. Darin, N., Moslemi, A.R., Lebon, S., Rustin, P., Holme, E., Oldfors, A., Tulinius, M. Neuropediatrics. (2003) [Pubmed]
  15. Sequence conservation from human to prokaryotes of Surf1, a protein involved in cytochrome c oxidase assembly, deficient in Leigh syndrome. Poyau, A., Buchet, K., Godinot, C. FEBS Lett. (1999) [Pubmed]
  16. Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients. Poyau, A., Buchet, K., Bouzidi, M.F., Zabot, M.T., Echenne, B., Yao, J., Shoubridge, E.A., Godinot, C. Hum. Genet. (2000) [Pubmed]
  17. The human Surfeit locus. Duhig, T., Ruhrberg, C., Mor, O., Fried, M. Genomics (1998) [Pubmed]
  18. Post-transcriptional silencing and functional characterization of the Drosophila melanogaster homolog of human Surf1. Zordan, M.A., Cisotto, P., Benna, C., Agostino, A., Rizzo, G., Piccin, A., Pegoraro, M., Sandrelli, F., Perini, G., Tognon, G., De Caro, R., Peron, S., Kronniè, T.T., Megighian, A., Reggiani, C., Zeviani, M., Costa, R. Genetics (2006) [Pubmed]
  19. Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1. Williams, S.L., Valnot, I., Rustin, P., Taanman, J.W. J. Biol. Chem. (2004) [Pubmed]
  20. Assembly of cytochrome-c oxidase in the absence of assembly protein Surf1p leads to loss of the active site heme. Smith, D., Gray, J., Mitchell, L., Antholine, W.E., Hosler, J.P. J. Biol. Chem. (2005) [Pubmed]
  21. Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions. Tiranti, V., Galimberti, C., Nijtmans, L., Bovolenta, S., Perini, M.P., Zeviani, M. Hum. Mol. Genet. (1999) [Pubmed]
  22. Increased longevity and refractoriness to Ca2+-dependent neurodegeneration in Surf1 knockout mice. Dell'agnello, C., Leo, S., Agostino, A., Szabadkai, G., Tiveron, C., Zulian, A., Prelle, A., Roubertoux, P., Rizzuto, R., Zeviani, M. Hum. Mol. Genet. (2007) [Pubmed]
  23. MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations. Farina, L., Chiapparini, L., Uziel, G., Bugiani, M., Zeviani, M., Savoiardo, M. AJNR. American journal of neuroradiology. (2002) [Pubmed]
  24. Transcripts containing the sea urchin retroposon family 1 (SURF1) in embryos of the sea urchin Anthocidaris crassispina. Yamaguchi, M., Ohba, Y. Zool. Sci. (1997) [Pubmed]
  25. The bidirectional promoter of the divergently transcribed mouse Surf-1 and Surf-2 genes. Lennard, A.C., Fried, M. Mol. Cell. Biol. (1991) [Pubmed]
  26. The brain-gut-islet connection. Woods, S.C., Benoit, S.C., Clegg, D.J. Diabetes (2006) [Pubmed]
  27. New splicing-site mutations in the SURF1 gene in Leigh syndrome patients. Pequignot, M.O., Desguerre, I., Dey, R., Tartari, M., Zeviani, M., Agostino, A., Benelli, C., Fouque, F., Prip-Buus, C., Marchant, D., Abitbol, M., Marsac, C. J. Biol. Chem. (2001) [Pubmed]
  28. A surfeit of serotonin: sumatriptan and serotonergic antidepressants. Schwartz, C.E. Arch. Intern. Med. (1999) [Pubmed]
  29. A functional YY1 binding site is necessary and sufficient to activate Surf-1 promoter activity in response to serum growth factors. Cole, E.G., Gaston, K. Nucleic Acids Res. (1997) [Pubmed]
  30. Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1. Stiburek, L., Vesela, K., Hansikova, H., Pecina, P., Tesarova, M., Cerna, L., Houstek, J., Zeman, J. Biochem. J. (2005) [Pubmed]
  31. Shy1p is necessary for full expression of mitochondrial COX1 in the yeast model of Leigh's syndrome. Barrientos, A., Korr, D., Tzagoloff, A. EMBO J. (2002) [Pubmed]
  32. The Surf-1 and Surf-2 genes and their essential bidirectional promoter elements are conserved between mouse and human. Lennard, A., Gaston, K., Fried, M. DNA Cell Biol. (1994) [Pubmed]
  33. Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency. Bugiani, M., Tiranti, V., Farina, L., Uziel, G., Zeviani, M. J. Med. Genet. (2005) [Pubmed]
  34. Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2. Sue, C.M., Karadimas, C., Checcarelli, N., Tanji, K., Papadopoulou, L.C., Pallotti, F., Guo, F.L., Shanske, S., Hirano, M., De Vivo, D.C., Van Coster, R., Kaplan, P., Bonilla, E., DiMauro, S. Ann. Neurol. (2000) [Pubmed]
  35. 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. Yon, J., Jones, T., Garson, K., Sheer, D., Fried, M. Hum. Mol. Genet. (1993) [Pubmed]
  36. Nuclear gene defects in mitochondrial disorders. Zeviani, M., Corona, P., Nijtmans, L., Tiranti, V. Italian journal of neurological sciences. (1999) [Pubmed]
  37. Extensive gene order differences within regions of conserved synteny between the Fugu and human genomes: implications for chromosomal evolution and the cloning of disease genes. Gilley, J., Fried, M. Hum. Mol. Genet. (1999) [Pubmed]
WikiGenes - Universities