SUMF1

SUMF1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1Y1E, 1Y1F, 1Y1G, 1Y1H, 1Y1I, 1Y1J, 1Z70, 2AFT, 2AFY, 2AII, 2AIJ, 2AIK, 2HI8, 2HIB
Identifiers
Aliases	SUMF1, AAPA3037, FGE, UNQ3037, sulfatase modifying factor 1
External IDs	OMIM: 607939; MGI: 1889844; HomoloGene: 16268; GeneCards: SUMF1; OMA:SUMF1 - orthologs
Gene location (Human)
Chr.	Chromosome 3 (human)
End	4,467,273 bp
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	108,162,543 bp
RNA expression pattern
	Top expressed in
	renal medulla; ; skin of arm; ; synovial membrane; ; synovial joint; ; tibia; ; human penis; ; skin of thigh; ; nipple; ; stromal cell of endometrium; ; pylorus;
	Top expressed in
	ascending aorta; ; aortic valve; ; stroma of bone marrow; ; epithelium of lens; ; Epithelium of choroid plexus; ; conjunctival fornix; ; iris; ; supraoptic nucleus; ; cumulus cell; ; tunica media of zone of aorta;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein homodimerization activity; metal ion binding; oxidoreductase activity; Formylglycine-generating oxidase activity; cupric ion binding;
Cellular component	endoplasmic reticulum lumen; endoplasmic reticulum;
Biological process	post-translational protein modification; glycosphingolipid metabolic process;
	Sources:Amigo / QuickGO
Orthologs
	285362
	58911
	ENSG00000144455
	ENSMUSG00000030101
	Q8NBK3
	Q8R0F3
	NM_001164674; NM_001164675; NM_182760
	NM_145937
	NP_001158146; NP_001158147; NP_877437
	NP_666049
	Wikidata
View/Edit Human	View/Edit Mouse

Sulfatase-modifying factor 1 is an enzyme that in humans is encoded by the SUMF1 gene.

Sulfatases catalyze the hydrolysis of sulfate esters such as glycosaminoglycans, sulfolipids, and steroid sulfates. C-alpha-formylglycine (FGly), the catalytic residue in the active site of eukaryotic sulfatases, is posttranslationally generated from a cysteine by SUMF1, the human form of the aerobic Formylglycine-generating enzyme (FGE), in the endoplasmic reticulum (ER). The genetic defect of FGly formation caused by mutations in the SUMF1 gene results in inactive FGE, and subsequently multiple sulfatase deficiency (MSD; MIM 272200), a lysosomal storage disorder (Roeser et al., 2006).[supplied by OMIM]