SUMF1 is a 374 amino acid alternatively spliced protein that localizes to the lumen of the endoplasmic reticulum and belongs to the sulfatase-modifying factor family. Expressed ubiquitously with highest expression in liver, kidney and pancreas, SUMF1 exists as either a monomer, a homodimer or a heterodimer (with SUMF2) and functions to oxidize sulfatase cysteine residues to an active FGIy residue, thereby playing an important role in sulfatase activity. Defects in the gene encoding SUMF1 are the cause of multiple sulfatase deficiency (MSD), a heterogeneous disorder characterized by metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay.
Function:
Using molecular oxygen and an unidentified reducing agent, oxidizes a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also called C(alpha)-formylglycine. Known substrates include GALNS, ARSA, STS and ARSE.
Subunit:
Monomer, homodimer and heterodimer with SUMF2.
Subcellular Location:
Endoplasmic reticulum lumen.
Tissue Specificity:
Ubiquitous. Highly expressed in kidney, pancreas and liver. Detected at lower levels in leukocytes, lung, placenta, small intestine, skeletal muscle and heart.
Post-translational modifications:
N-glycosylated. Contains high-mannose-type oligosaccharides.
DISEASE:
Defects in SUMF1 are the cause of multiple sulfatase deficiency (MSD) [MIM:27440]. MSD is a clinically and biochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defective post-translational modification and activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay. Inheritance is autosomal recessive.
Similarity:
Belongs to the sulfatase-modifying factor family.
SWISS:
Q8NBK3
Gene ID:
285362
Database links:
Entrez Gene: 536435 Cow
Entrez Gene: 484681 Dog
Entrez Gene: 100734272 Guinea pig
Entrez Gene: 100052857 Horse
Entrez Gene: 285362 Human
Entrez Gene: 58911 Mouse
Entrez Gene: 100514188 Pig
Entrez Gene: 36489 Rat
Omim: 607939 Human
SwissProt: Q0P5L5 Cow
SwissProt: Q8NBK3 Human
SwissProt: Q8R0F3 Mouse
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