Surfeit locus 1/Shy1 (IPR002994)

Short name: Surf1/Shy1

Overlapping homologous superfamilies


Family relationships



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 [PMID: 9843204]. Vertebrate SURF1 is evolutionary related to yeast protein Shy1, which is a mitochondrial inner membrane protein required for assembly of cytochrome c oxidase [PMID: 11782424]. 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 [PMID: 9843204, PMID: 10746561, PMID: 10647889].

GO terms

Biological Process

No terms assigned in this category.

Molecular Function

No terms assigned in this category.

Cellular Component

GO:0016020 membrane

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PROSITE profiles