sulfatase modifying factor 1
Symbol
SUMF1
(may also be known as: None)
Organism
Human
Description
This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. Mutations in this gene cause multiple sulfatase deficiency, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
Orthologs
Symbol | Species | |
---|---|---|
CG7049 | Drosophila melanogaster | |
sumf1 | Danio rerio | |
Sumf1 | Mus musculus | |
Sumf1 | Rattus norvegicus |
Links to external resources
Changes associated with this gene
GO Terms
GO ID | GO Term | GO Category |
---|---|---|
GO:0005783 | endoplasmic reticulum | cellular_component |
GO:0005788 | endoplasmic reticulum lumen | cellular_component |
GO:0005488 | binding | molecular_function |
GO:0016491 | oxidoreductase activity | molecular_function |
GO:0042803 | protein homodimerization activity | molecular_function |
GO:0046872 | metal ion binding | molecular_function |