F
IPR002994

Surfeit locus 1/Shy1

InterPro entry
Short nameSurf1/Shy1
family relationships

Description

This entry includes SURF1 and Shy1 proteins. The surfeit locus 1 gene (SURF1 or surf-1) encodes a conserved protein of about 300 amino-acid residues that seems to be involved in the biogenesis of cytochrome c oxidase
[1]
. Vertebrate SURF1 is evolutionary related to yeast protein Shy1, which is a mitochondrial inner membrane protein required for assembly of cytochrome c oxidase
[4]
. There seems to be two transmembrane regions in these proteins, one in the N-terminal, the other in the C-terminal.

Defects in SURF1 are a cause of Leigh syndrome (LS). LS is a severe neurological disorder characterised by bilaterally symmetrical necrotic lesions in subcortical brain regions that is commonly associated with systemic cytochrome c oxidase (COX) deficiency
[1, 2, 3]
.

References

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 AP, Newbold RF, Wang J, Chevrette M, Brown GK, Brown RM, Shoubridge EA. Nat. Genet. 20, 337-43, (1998). View articlePMID: 9843204

2.Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients. Poyau A, Buchet K, Bouzidi MF, Zabot MT, Echenne B, Yao J, Shoubridge EA, Godinot C. Hum. Genet. 106, 194-205, (2000). View articlePMID: 10746561

3.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

4.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

GO terms

biological process

  • None

molecular function

  • None

cellular component

Cross References

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