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LMP002799

UniProt Annotations

Entry Information
Gene Namearylsulfatase A
Protein EntryARSA_HUMAN
UniProt IDP15289
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P15289-1; Sequence=Displayed; Name=2; IsoId=P15289-2; Sequence=VSP_046190; Note=No experimental confirmation available.;
Catalytic ActivityA cerebroside 3-sulfate + H(2)O = a cerebroside + sulfate.
CofactorName=Ca(2+); Xref=ChEBI
DiseaseLeukodystrophy metachromatic (MLD) [MIM
DiseaseMultiple sulfatase deficiency (MSD) [MIM
Enzyme RegulationInhibited by phosphate. The phosphate forms a covalent bond with the active site 3-oxoalanine.
FunctionHydrolyzes cerebroside sulfate.
MiscellaneousThe metal cofactor was first identified as magnesium ion, based on the structure of the recombinant protein, but when purified from human placenta, the protein contains 1 calcium ion per subunit.
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. This post-translational modification is severely defective in multiple sulfatase deficiency (MSD).
Sequence CautionSequence=AAB03341.1; Type=Erroneous initiation; Evidence= ; Sequence=BAH11167.1; Type=Erroneous initiation; Evidence= ;
SimilarityBelongs to the sulfatase family.
Subcellular LocationLysosome.
SubunitHomodimer at neutral pH and homooctamer at acidic pH. Exists both as a single chain of 58 kDa (component A) or as a chain of 50 kDa (component B) linked by disulfide bond(s) to a 7 kDa chain (component C). Interacts with SUMF1. {ECO
Web ResourceName=Arylsulfatase A (ARSA); Note=Leiden Open Variation Database (LOVD); URL="http://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=ARSA";
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/arsa/";
Web ResourceName=Wikipedia; Note=Arylsulfatase A entry; URL="http://en.wikipedia.org/wiki/Arylsulfatase_A";