SURF1

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. [provided by RefSeq, Jul 2008]

Description

SURF1 cytochrome c oxidase assembly factor

Tissue specificity

Low tissue specificity

Predicted location

Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

9 (133351758 - 133356676)

Ensembl ID

ENSG00000148290  (ver. 103.38)

Orthologs

Mouse Surf1: ENSMUSG00000015790

UniProt

Q15526

neXtProt

NX_Q15526

Human splice variants
Mouse splice variants

Protein structure