Protein Variants | Comment | Organism |
---|---|---|
R329Q | site-specific mutagenesis, construction of the naturally occurring mutation at R329 in Kanzaki disease, less severe phenotype compared to R329W | Homo sapiens |
R329Q | mutation results in protein instability | Homo sapiens |
R329W | site-specific mutagenesis, construction of the naturally occurring mutation at R329 in Kanzaki disease, more severe phenotype compared to R329Q | Homo sapiens |
R329W | mutation results in protein instability | 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 | enzyme deficiency, due to missense mutations at residue R329 causing structural changes in the enzyme leading to differing substrate specificity, causes the Kanzaki disease, an autosomal recessine storage disorder with accumulation of GalNAcalpha1-O-Ser/Thr in the lysosome and increased urinary excretion of O-linked sialylglycopeptides, phenotype, overview | ? | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
blood plasma | - |
Homo sapiens | - |
plasma | - |
Homo sapiens | - |
Specific Activity Minimum [µmol/min/mg] | Specific Activity Maximum [µmol/min/mg] | Comment | Organism |
---|---|---|---|
additional information | - |
- |
Homo sapiens |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
4-methylumbelliferyl-alpha-D-galactosaminide + H2O | - |
Homo sapiens | 4-methylumbelliferone + alpha-D-galactosamine | - |
? | |
GalNAc-alpha1-O-Ser + H2O | - |
Homo sapiens | ? | - |
? | |
GalNAc-alpha1-O-Thr + H2O | - |
Homo sapiens | ? | - |
? | |
additional information | enzyme deficiency, due to missense mutations at residue R329 causing structural changes in the enzyme leading to differing substrate specificity, causes the Kanzaki disease, an autosomal recessine storage disorder with accumulation of GalNAcalpha1-O-Ser/Thr in the lysosome and increased urinary excretion of O-linked sialylglycopeptides, phenotype, overview | Homo sapiens | ? | - |
? |
Synonyms | Comment | Organism |
---|---|---|
alpha-NAGA | - |
Homo sapiens |