SURF1

SURF1
Identifiers
Aliases	SURF1, CMT4K, surfeit 1, cytochrome c oxidase assembly factor, SURF1 cytochrome c oxidase assembly factor, MC4DN1, SHY1
External IDs	OMIM: 185620; MGI: 98443; HomoloGene: 2387; GeneCards: SURF1; OMA:SURF1 - orthologs
Gene location (Human)
Chr.	Chromosome 9 (human)
End	133,356,676 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	26,806,542 bp
RNA expression pattern
	Top expressed in
	apex of heart; ; body of pancreas; ; right lobe of liver; ; body of stomach; ; mucosa of transverse colon; ; granulocyte; ; right adrenal gland; ; right adrenal cortex; ; muscle layer of sigmoid colon; ; left adrenal cortex;
	Top expressed in
	facial motor nucleus; ; neural layer of retina; ; anterior horn of spinal cord; ; motor neuron; ; superior frontal gyrus; ; dentate gyrus of hippocampal formation granule cell; ; yolk sac; ; transitional epithelium of urinary bladder; ; right kidney; ; primary visual cortex;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	cytochrome-c oxidase activity; protein binding;
Cellular component	integral component of membrane; mitochondrial inner membrane; mitochondrion; membrane; mitochondrial respirasome;
Biological process	proton transmembrane transport; aerobic respiration; oxidative phosphorylation; ATP biosynthetic process; respiratory chain complex IV assembly; mitochondrial cytochrome c oxidase assembly; electron transport chain;
	Sources:Amigo / QuickGO
Orthologs
	6834
	20930
	ENSG00000148290; ENSG00000280627
	ENSMUSG00000015790
	Q15526
	P09925
	NM_001280787; NM_003172
	NM_001271724; NM_013677
	NP_001267716; NP_003163
	NP_001258653; NP_038705
	Wikidata
View/Edit Human	View/Edit Mouse

Surfeit locus protein 1 (SURF1) is a protein that in humans is encoded by the SURF1 gene. The protein encoded by SURF1 is a component of the mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex (MITRAC complex), which is involved in the regulation of cytochrome c oxidase assembly. Defects in this gene are a cause of Leigh syndrome, a severe neurological disorder that is commonly associated with systemic cytochrome c oxidase (complex IV) deficiency, and Charcot-Marie-Tooth disease 4K (CMT4K).