Aliases for SUMF1 Gene
External Ids for SUMF1 Gene
Previous GeneCards Identifiers for SUMF1 Gene
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]
GeneCards Summary for SUMF1 Gene
SUMF1 (Sulfatase Modifying Factor 1) is a Protein Coding gene. Diseases associated with SUMF1 include Multiple Sulfatase Deficiency and Metachromatic Leukodystrophy. Among its related pathways are Gamma carboxylation, hypusine formation and arylsulfatase activation and Sphingolipid metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and oxidoreductase activity. An important paralog of this gene is SUMF2.
UniProtKB/Swiss-Prot Summary for SUMF1 Gene
Oxidase that catalyzes the conversion of cysteine to 3-oxoalanine on target proteins, using molecular oxygen and an unidentified reducing agent (PubMed:12757706, PubMed:15657036, PubMed:15907468, PubMed:25931126, PubMed:16368756, PubMed:21224894). 3-oxoalanine modification, which is also named formylglycine (fGly), occurs in the maturation of arylsulfatases and some alkaline phosphatases that use the hydrated form of 3-oxoalanine as a catalytic nucleophile (PubMed:12757706, PubMed:15657036, PubMed:15907468, PubMed:25931126, PubMed:16368756). Known substrates include GALNS, ARSA, STS and ARSE (PubMed:12757706, PubMed:15907468, PubMed:15657036).