SURF1

SURF1
Identifiers
Aliases SURF1, CMT4K, surfeit 1
External IDs MGI: 98443 HomoloGene: 2387 GeneCards: SURF1
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez

6834

20930

Ensembl

n/a

ENSMUSG00000015790

UniProt

Q15526

P09925

RefSeq (mRNA)

NM_001280787
NM_003172

NM_001271724
NM_013677

RefSeq (protein)

NP_001267716.1
NP_003163.1

NP_001258653.2
NP_038705.2

Location (UCSC) Chr 9: 133.35 – 133.36 Mb Chr 2: 26.91 – 26.92 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Surfeit locus protein 1 is a protein that in humans is encoded by the SURF1 gene.[3][4][5]

Function

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.[5]

References

  1. ↑ "Human PubMed Reference:".
  2. ↑ "Mouse PubMed Reference:".
  3. ↑ Yon J, Jones T, Garson K, Sheer D, Fried M (March 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". Human Molecular Genetics. 2 (3): 237–40. doi:10.1093/hmg/2.3.237. PMID 8499913.
  4. ↑ 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 (December 1998). "SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome". Nature Genetics. 20 (4): 337–43. doi:10.1038/3804. PMID 9843204.
  5. 1 2 "Entrez Gene: SURF1 surfeit 1".

Further reading

  • Shoubridge EA (2001). "Cytochrome c oxidase deficiency". American Journal of Medical Genetics. 106 (1): 46–52. doi:10.1002/ajmg.1378. PMID 11579424. 
  • Lennard A, Gaston K, Fried M (November 1994). "The Surf-1 and Surf-2 genes and their essential bidirectional promoter elements are conserved between mouse and human". DNA and Cell Biology. 13 (11): 1117–26. doi:10.1089/dna.1994.13.1117. PMID 7702754. 
  • Duhig T, Ruhrberg C, Mor O, Fried M (August 1998). "The human Surfeit locus". Genomics. 52 (1): 72–8. doi:10.1006/geno.1998.5372. PMID 9740673. 
  • Yao J, Shoubridge EA (December 1999). "Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency". Human Molecular Genetics. 8 (13): 2541–9. doi:10.1093/hmg/8.13.2541. PMID 10556303. 
  • Teraoka M, Yokoyama Y, Ninomiya S, Inoue C, Yamashita S, Seino Y (December 1999). "Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency". Human Genetics. 105 (6): 560–3. doi:10.1007/s004390051145. PMID 10647889. 
  • Poyau A, Buchet K, Bouzidi MF, Zabot MT, Echenne B, Yao J, Shoubridge EA, Godinot C (February 2000). "Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients". Human Genetics. 106 (2): 194–205. doi:10.1007/s004390051028. PMID 10746561. 
  • Péquignot MO, Dey R, Zeviani M, Tiranti V, Godinot C, Poyau A, Sue C, Di Mauro S, Abitbol M, Marsac C (May 2001). "Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency". Human Mutation. 17 (5): 374–81. doi:10.1002/humu.1112. PMID 11317352. 
  • Ogawa Y, Naito E, Ito M, Yokota I, Saijo T, Shinahara K, Kuroda Y (March 2002). "Three novel SURF-1 mutations in Japanese patients with Leigh syndrome". Pediatric Neurology. 26 (3): 196–200. doi:10.1016/S0887-8994(01)00382-4. PMID 11955926. 
  • Capková M, Hansíková H, Godinot C, Houst'ková H, Houstĕk J, Zeman J (October 2002). "[A new missense mutation of 574C>T in the SURF1 gene--biochemical and molecular genetic study in seven children with Leigh syndrome]". Casopís Lékar̆ů C̆eských. 141 (20): 636–41. PMID 12515039. 
  • Sacconi S, Salviati L, Sue CM, Shanske S, Davidson MM, Bonilla E, Naini AB, De Vivo DC, DiMauro S (February 2003). "Mutation screening in patients with isolated cytochrome c oxidase deficiency". Pediatric Research. 53 (2): 224–30. doi:10.1203/01.PDR.0000048100.91730.6A. PMID 12538779. 
  • Rossi A, Biancheri R, Bruno C, Di Rocco M, Calvi A, Pessagno A, Tortori-Donati P (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, Aman P, Holme E, Oldfors A (October 2003). "SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency". Neurology. 61 (7): 991–3. doi:10.1212/01.wnl.0000082391.98672.0a. PMID 14557577. 
  • Williams SL, Valnot I, Rustin P, Taanman JW (February 2004). "Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1". The Journal of Biological Chemistry. 279 (9): 7462–9. doi:10.1074/jbc.M309232200. PMID 14607829. 
  • Salviati L, Freehauf C, Sacconi S, DiMauro S, Thoma J, Tsai AC (July 2004). "Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome". American Journal of Medical Genetics. Part A. 128A (2): 195–8. doi:10.1002/ajmg.a.30073. PMID 15214016. 
  • Smith D, Gray J, Mitchell L, Antholine WE, Hosler JP (May 2005). "Assembly of cytochrome-c oxidase in the absence of assembly protein Surf1p leads to loss of the active site heme". The Journal of Biological Chemistry. 280 (18): 17652–6. doi:10.1074/jbc.C500061200. PMID 15764605. 
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