Cloned (Comment) | Organism |
---|---|
mutant protein Y210C is expressed in CHO-K1 cells | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
Y210C | the enzyme is synthesized at a comparable molecular size and amount to wild-type enzyme. 33% of the intracellular Y210C mutant enzyme remains as a precursor form, for at least 8 h post labeling and is not processed to the mature lysosomal form. A significant amount of the mutant enzyme escapes the endoplasmic reticulum and is either secreted from the expression cells or underwent delayed intracellular traffic. The mutant enzyme is inactivated and degraded at an enhanced rate in the lysosomal compartment | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
lysosome | - |
Homo sapiens | 5764 | - |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | Homo sapiens | the enzyme is required for the degradation of the glycosaminoglycan substrates dermatan and chondroitin sulfate. A 4-sulfatase deficiency results in the accumulation of undegraded substrate and causes the severe lysosomal storage disorder mucopolysaccharidosis type VI or Maroteaux-Lamy syndrome. A wide variation in clinical severity is observed between MPS VI patients and reflects the number of different 4-sulfatase mutations that can cause the disorder.Y210C is detected in about 10% of the MPS VI patients | ? | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
mutant enzyme Y210C detected in 10% of the patients with mucopolysaccharidosis type VI | - |
Posttranslational Modification | Comment | Organism |
---|---|---|
proteolytic modification | 33% of the intracellular Y210C mutant enzyme remains as a precursor form, for at least 8 h post labeling and is not processed to the mature lysosomal form. A significant amount of the mutant enzyme escapes the endoplasmic reticulum and is either secreted from the expression cells or undergoes delayed intracellular traffic. 67% of the intracellular Y210C mutant enzyme is processed to the mature form by a proteolytic processing step known to occur in lysosomes | Homo sapiens |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
skin fibroblast | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | the enzyme is required for the degradation of the glycosaminoglycan substrates dermatan and chondroitin sulfate. A 4-sulfatase deficiency results in the accumulation of undegraded substrate and causes the severe lysosomal storage disorder mucopolysaccharidosis type VI or Maroteaux-Lamy syndrome. A wide variation in clinical severity is observed between MPS VI patients and reflects the number of different 4-sulfatase mutations that can cause the disorder.Y210C is detected in about 10% of the MPS VI patients | Homo sapiens | ? | - |
? |
pH Optimum Minimum | pH Optimum Maximum | Comment | Organism |
---|---|---|---|
5.3 | - |
wild-type and mutant enzyme | Homo sapiens |
pH Minimum | pH Maximum | Comment | Organism |
---|---|---|---|
3.9 | 6.1 | pH 3.9: about 40% of maximal activity, wild-type enzyme, pH 6.1: about 45% of maximal activity, wild-type enzyme. pH 3.9: about 40% of maximal activity, mutant enzyme Y210C, pH 6.1: about 45% of maximal activity, mutant enzyme Y210C | Homo sapiens |