MGP Database

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MGP000219

UniProt Annotations

Entry Information
Gene Namearylsulfatase E (chondrodysplasia punctata 1)
Protein EntryARSE_HUMAN
UniProt IDP51690
SpeciesHuman
Comments
Comment typeDescription
Biophysicochemical PropertiespH dependence: Optimum pH is 7.; Temperature dependence: Almost completely inactivated after 10 minutes at 50 degrees Celsius.;
CofactorName=Ca(2+); Xref=ChEBI:CHEBI:29108; Evidence={ECO:0000250}; Note=Binds 1 Ca(2+) ion per subunit. {ECO:0000250};
DiseaseChondrodysplasia punctata 1, X-linked recessive (CDPX1) [MIM:302950]: A clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. CDPX1 is a congenital defect of bone and cartilage development characterized by aberrant bone mineralization, severe underdevelopment of nasal cartilage, and distal phalangeal hypoplasia. This disease can also be induced by inhibition with the drug warfarin. {ECO:0000269|PubMed:12567415, ECO:0000269|PubMed:7720070, ECO:0000269|PubMed:9409863}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationInhibited by millimolar concentrations of warfarin.
FunctionMay be essential for the correct composition of cartilage and bone matrix during development. Has no activity toward steroid sulfates.
PtmN-glycosylated. {ECO:0000269|PubMed:19159218}.
PtmThe conversion to 3-oxoalanine (also known as C- formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity. {ECO:0000250}.
SimilarityBelongs to the sulfatase family. {ECO:0000305}.
Subcellular LocationGolgi apparatus, Golgi stack.
Tissue SpecificityExpressed in the pancreas, liver and kidney.
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