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Literature summary for 3.1.6.4 extracted from

  • Sukegawa, K.; Nakamura, H.; Kato, Z.; Tomatsu, S.; Montano, A.M.; Fukao, T.; Toietta, G.; Tortora, P.; Orii, T.; Kondo, N.
    Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes (2000), Hum. Mol. Genet., 9, 1283-1290.
    View publication on PubMed
Search for more literature for 3.1.6.4

Application

Application Comment Organism
medicine enzyme defect leads to mucopolysaccharidosis IVA Homo sapiens

Cloned(Commentary)

Cloned (Comment) Organism
expressed in deficient fibroblasts Homo sapiens

Protein Variants

Protein Variants Comment Organism
C79S no enzymatic activity Homo sapiens
C79T no enzymatic activity Homo sapiens
F97V 10fold decrease in enzymatic activity, no mature polypeptide chain and precursor polypeptide is faintly visible Homo sapiens
G155R no enzymatic activity, no mature polypeptide chain and precursor polypeptide is faintly visible Homo sapiens
G301C no enzymatic activity, no mature polypeptide chain and precursor polypeptide is faintly visible Homo sapiens
I113F no enzymatic activity, no mature polypeptide chain and precursor polypeptide is faintly visible Homo sapiens
N204K decreased enzymatic activity, no mature polypeptide chain and precursor polypeptide is faintly visible Homo sapiens
P125L no enzymatic activity, no mature polypeptide chain and precursor polypeptide is faintly visible Homo sapiens
P151L no enzymatic activity, no mature polypeptide chain and precursor polypeptide is faintly visible Homo sapiens
P77R no enzymatic activity, no mature polypeptide chain and precursor polypeptide is faintly visible Homo sapiens
R295Q decreased enzymatic activity, no mature polypeptide chain and precursor polypeptide is faintly visible Homo sapiens
R386C no enzymatic activity, no mature polypeptide chain and precursor polypeptide is faintly visible Homo sapiens
R94C no enzymatic activity, no mature polypeptide chain and precursor polypeptide is faintly visible Homo sapiens
R94G no enzymatic activity, no mature polypeptide chain and precursor polypeptide is faintly visible Homo sapiens
S162F no enzymatic activity, no mature polypeptide chain and precursor polypeptide is faintly visible Homo sapiens
T312S decreased enzymatic activity, no mature polypeptide chain and precursor polypeptide is faintly visible Homo sapiens
V138A no enzymatic activity, no mature polypeptide chain and precursor polypeptide is faintly visible Homo sapiens

Molecular Weight [Da]

Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
40000
-
 mature protein, SDS-PAGE Homo sapiens
52000 53000 N204K mutant, precursor protein lacking one carbohydrate chain, SDS-PAGE Homo sapiens
55000
-
 precursor protein, SDS-PAGE Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Posttranslational Modification

Posttranslational Modification Comment Organism
glycoprotein one carbohydrate chain per subunit Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
Gal(6-SO4)beta(1-4)-GlcAc(6-SO4)beta(1-4)-D-galactitol + H2O
-
 Homo sapiens sulfate + ?
-
 ?
galactose 6-sulfate + H2O in chondroitin sulfate or keratan sulfate Homo sapiens galactose + sulfate
-
 ?