cd06662

SURF1

CDD entry
Member databaseCDD
CDD typedomain
Short nameSURF1
SetSURF1

Description

SURF1 superfamily. Surf1/Shy1 has been implicated in the posttranslational steps of the biogenesis of the mitochondrially-encoded Cox1 subunit of cytochrome c oxidase (complex IV). Cytochrome c oxidase (complex IV), the terminal electron-transferring complex of the respiratory chain, is an assemblage of nuclear and mitochondrially-encoded subunits. Its assembly is mediated by nuclear encoded assembly factors, one of which is Surf1/Shy1. Mutations in human Surf1 are a major cause of Leigh syndrome, a severe neurodegenerative disorder.
[4, 5, 2, 6, 1, 3]

References

1.SHY1, the yeast homolog of the mammalian SURF-1 gene, encodes a mitochondrial protein required for respiration. Mashkevich G, Repetto B, Glerum DM, Jin C, Tzagoloff A. J Biol Chem 272, 14356-64, (1997). PMID: 9162072

2.Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency. Pequignot MO, Dey R, Zeviani M, Tiranti V, Godinot C, Poyau A, Sue C, Di Mauro S, Abitbol M, Marsac C. Hum Mutat 17, 374-81, (2001). PMID: 11317352

3.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. 21, 43-52, (2002). View articlePMID: 11782424

4.Biogenesis of cytochrome oxidase-sophisticated assembly lines in the mitochondrial inner membrane. Herrmann JM, Funes S. Gene 354, 43-52, (2005). PMID: 15905047

5.Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency. Teraoka M, Yokoyama Y, Ninomiya S, Inoue C, Yamashita S, Seino Y. Hum. Genet. 105, 560-3, (1999). View articlePMID: 10647889

6.Shy1 couples Cox1 translational regulation to cytochrome c oxidase assembly. Mick DU, Wagner K, van der Laan M, Frazier AE, Perschil I, Pawlas M, Meyer HE, Warscheid B, Rehling P. EMBO J. 26, 4347-58, (2007). View articlePMID: 17882259

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