3.1.6.12: N-acetylgalactosamine-4-sulfatase
This is an abbreviated version!
For detailed information about N-acetylgalactosamine-4-sulfatase, go to the full flat file.
Word Map on EC 3.1.6.12
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3.1.6.12
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mucopolysaccharidosis
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lysosomal
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maroteaux-lamy
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glycosaminoglycans
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arylsulfatase
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dermatan
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feline
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rhasb
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medicine
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galsulfase
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sulfatases
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stair
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enzyme-replacement
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mps-vi
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dysostosis
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diagnostics
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nutrition
- 3.1.6.12
- mucopolysaccharidosis
- lysosomal
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maroteaux-lamy
- glycosaminoglycans
- arylsulfatase
- dermatan
- feline
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rhasb
- medicine
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galsulfase
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sulfatases
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stair
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enzyme-replacement
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mps-vi
- dysostosis
- diagnostics
- nutrition
Reaction
Synonyms
4-sulfatase, 4-sulphatase, acetylgalactosamine 4-sulfatase, ARSB, arylsulfatase B, ASB, chondroitinase, chondroitinsulfatase, chondrosulfatase, G4S, gastric chondrosulfohydrolase, N-acetylgalactosamine 4-sulfatase, N-acetylgalactosamine 4-sulfate sulfohydrolase, N-acetylgalactosamine-4-sulfatase, N-acetylgalactosamine-4-sulphatase, sulfatase, acetylgalactosamine 4-
ECTree
3.1.6.12 N-acetylgalactosamine-4-sulfataseAdvanced search results
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results (Engineering
Engineering on EC 3.1.6.12 - N-acetylgalactosamine-4-sulfatase
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PROTEIN VARIANTS 
ORGANISM
UNIPROT
COMMENTARY 
LITERATURE
C117R
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, severe phenotype
C192R
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, mild phenotype
C405Y
C447F
C447S
associated with the severe phenotype of mucopolysaccharidosis type VI
C521Y
C53S
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the mutation causes ASB-deficiency, phenoytpe, overview. The enzyme is taken up into cultured ASB-deficient human fibroblasts, GM00519 cells, and translocates to the lysosomes, it is catalytically active. The enzyme enters target cells predominantly through the CI-M6P receptor. The uptake of rhASB is able to restore lysosomal function in an in vitro cell-based assay
C91S
D54N
associated with the severe phenotype of mucopolysaccharidosis type VI
D83Y
associated with the attenuated phenotype of mucopolysaccharidosis type VI
E421X
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, intermediate phenotype
G137V
G144R
G171D
associated with the attenuated phenotype of mucopolysaccharidosis type VI
G171S
associated with the attenuated phenotype of mucopolysaccharidosis type VI
G302R
G308R
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mutant shows very low level of activity, the expressed mutation significantly reduces the amount of mature protein, the ARSB mutation has a significant effect on enzyme activity, protein processing and mRNA stability
H393P
H430R
associated with the attenuated phenotype of mucopolysaccharidosis type VI
I296N
associated with the severe phenotype of mucopolysaccharidosis type VI
K439E
associated with the severe phenotype of mucopolysaccharidosis type VI
K470A
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mutation leads to an decrease of enzyme activity in the medium to 13% of total activity compared to 25% of the wild-type enzyme, no effect on phosphorylation
K470A/K497A/K507A
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mutation leads to an decrease of enzyme activity in the medium to 17% of total activity compared to 25% of the wild-type enzyme, no effect on phosphorylation
K470A/K507A
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mutation leads to an decrease of enzyme activity in the medium to 16% of total activity compared to 25% of the wild-type enzyme, no effect on phosphorylation
K497A
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mutation leads to an decrease of enzyme activity in the medium to 19% of total activity compared to 25% of the wild-type enzyme, no effect on phosphorylation
K497A/K507A
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mutation leads to an decrease of enzyme activity in the medium to 18% of total activity compared to 25% of the wild-type enzyme, no effect on phosphorylation
K507A
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mutation leads to an decrease of enzyme activity in the medium to 23% of total activity compared to 25% of the wild-type enzyme, no effect on phosphorylation
L236P
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, second mutation C405Y, mild phenotype
L321P
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, intermediate phenotype
L360P
L472P
L498P
L72Q
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, heterozygote of L72Q and 219delC/221-230delCGCTGGCGGC on same allele and 743delC on other allele, severe phenotype
L72R
associated with the severe phenotype of mucopolysaccharidosis type VI
L82R
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mutant shows very low level of activity, the expressed mutation significantly reduces the amount of mature protein, the ARSB mutation has a significant effect on enzyme activity, protein processing and mRNA stability
L98P
M142I
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, intermediate phenotype
P116H
P313A
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mutant shows very low level of activity, the expressed mutation significantly reduces the amount of mature protein, the ARSB mutation has a significant effect on enzyme activity, protein processing and mRNA stability
P531R
Q456X
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, intermediate phenotype
Q503X
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, intermediate phenotype
R102H
associated with the attenuated phenotype of mucopolysaccharidosis type VI
R152W
R160Q
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, intermediate phenotype
R160X
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, intermediate phenotype
R315Q
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, intermediate phenotype
R315X
R434I
associated with the attenuated phenotype of mucopolysaccharidosis type VI
R513X
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, heterozygote of the R315X and Y513W alleles, severe phenotype
R95Q
S240F
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mutant shows very low level of activity, the expressed mutation significantly reduces the amount of mature protein, the ARSB mutation has a significant effect on enzyme activity, protein processing and mRNA stability
S320R
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, intermediate phenotype
S384N
S65F
T442M
associated with the attenuated phenotype of mucopolysaccharidosis type VI
T442R
associated with the attenuated phenotype of mucopolysaccharidosis type VI
T92M
W146L
W146R
W146S
W146X
second mutation Y210C, mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, intermediate phenotype
W353R
associated with the severe phenotype of mucopolysaccharidosis type VI
Y138C
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mutant shows very low level of activity, the expressed mutation significantly reduces the amount of mature protein, the ARSB mutation has a significant effect on enzyme activity, protein processing and mRNA stability
Y210C
additional information
C405Y
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, second mutation L236P, mild phenotype
C405Y
associated with the attenuated phenotype of mucopolysaccharidosis type VI
C447F
associated with the severe phenotype of mucopolysaccharidosis type VI
C447F
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mutant shows very low level of activity, the expressed mutation significantly reduces the amount of mature protein, the ARSB mutation has a significant effect on enzyme activity, protein processing and mRNA stability
C521Y
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, severe phenotype. Second mutation R152W, intermediate phenotype
C521Y
causes large structural changes, associated with the severe phenotype of mucopolysaccharidosis type VI
C91S
catalytically inactive enzyme can be converted into an active enzyme form by vanadate and light
C91S
present at significantly higher levels in conditioned media when compared with the wild type
G137V
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, intermediate phenotype
G137V
causes small structural changes, associated with the attenuated phenotype of mucopolysaccharidosis type VI
G144R
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, severe phenotype
G144R
causes large structural changes, associated with the severe phenotype of mucopolysaccharidosis type VI
G302R
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, severe phenotype
G302R
associated with the severe phenotype of mucopolysaccharidosis type VI
H393P
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, second mutation R95Q, severe phenotype. Second mutation Y210C, intermediate phenotype
H393P
causes large structural changes, associated with the severe phenotype of mucopolysaccharidosis type VI
L360P
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, second mutation R152W and S384N, mild phenotype
L360P
associated with the attenuated phenotype of mucopolysaccharidosis type VI
L472P
associated with the attenuated phenotype of mucopolysaccharidosis type VI
L472P
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mutant shows very low level of activity, the expressed mutation significantly reduces the amount of mature protein, the ARSB mutation has a significant effect on enzyme activity, protein processing and mRNA stability
L498P
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, second mutation T92M, mild phenotype
L98P
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, second mutation 245delT, intermediate phenotype
L98P
associated with the attenuated phenotype of mucopolysaccharidosis type VI
P116H
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, severe phenotype
P116H
associated with the severe phenotype of mucopolysaccharidosis type VI
P531R
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, mild phenotype
P531R
associated with the attenuated phenotype of mucopolysaccharidosis type VI
R152W
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, second mutation 237-243delGGTGCTC or C521Y, intermediate phenotype. Second mutation L360P or S384N, mild phenotype
R152W
associated with the attenuated phenotype of mucopolysaccharidosis type VI
R315X
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, heterozygote of the R315X and Y513W alleles, severe phenotype
R315X
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a narturally occuring mutationiin exon 5 of the ARSB gene causing reduced enzyme activity
R95Q
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, second mutation H393P, severe phenotype
R95Q
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, second mutazion Y210C alleles, mild phenotype
R95Q
causes large structural changes, associated with the severe phenotype of mucopolysaccharidosis type VI
S384N
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, severe phenotype
S384N
associated with the severe phenotype of mucopolysaccharidosis type VI
S65F
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, intermediate phenotype
S65F
associated with the attenuated phenotype of mucopolysaccharidosis type VI
T92M
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, second mutation L489P, mild phenotype
W146L
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, svere phenotype
W146L
associated with the severe phenotype of mucopolysaccharidosis type VI
W146R
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, severe phenotype
W146R
associated with the severe phenotype of mucopolysaccharidosis type VI
W146S
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, mild phenotype
W146S
associated with the severe phenotype of mucopolysaccharidosis type VI
Y210C
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, second mutation H393P, intermediate phenotype. Second mutation R95Q, mild phenotype
Y210C
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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
Y210C
causes small structural changes, associated with the attenuated phenotype of mucopolysaccharidosis type VI
additional information
the vast majority of mucopolysaccharidosis type VI mutant alleles are either unique to a patient or are present in a small number of patients
additional information
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the vast majority of mucopolysaccharidosis type VI mutant alleles are either unique to a patient or are present in a small number of patients
additional information
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a large deletion, c.899-1142del, e.iminates the whole exon5, the large deletion mutation g.99367-102002del involves exon 5 and parts of introns 4 and 5 of the arylsulfatase B gene leading to a frameshift and causing apparent homozygosity in a mucopolysaccharidosis type VI patient
additional information
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ASB silencing and overexpression are associated with alterations in syndecan-1 and decorin expression in MCF-7 cells and in IL-8 secretion in human bronchial epithelial cells. Silencing or overexpression of ASB in normal rat kidney epithelial cells in tissue culture modified the content of total sulfated glycosaminoglycans, chondroitin 4-sulfate, kininogen, and bradykinin in spent media and cell lysates. When ASB is overexpressed, the cellular kininogen that associated with C4S declines
additional information
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ASB silencing in IB3-1 and C38 bronchial epithelial cell lines and in primary bronchial epithelial cells, leading to reduced ASB activity, chondroitin 4-sulfate content, and increased interleukin-8 content associated to the cell membranes instead of secreted. Neutrophil attraction to the cell lysate is increased in ABS silencing, overview
additional information
a homozygous deletion of exon 4 is observed in a 5-year-old girl who presented with an exaggerated, convex curvature of the back at the age of one year. The mutation leads to abnormal excretion of dermatan sulfate in the urine and extremely low leukocyte ARSB activity. The deletion leads to a truncated protein that lacks most of the catalytic domain. The patient received recombinant human ARSB as enzyme replacement therapy at an early stage (2 years), and responded positively in terms of skeletal development and other developmental milestones
additional information
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a homozygous deletion of exon 4 is observed in a 5-year-old girl who presented with an exaggerated, convex curvature of the back at the age of one year. The mutation leads to abnormal excretion of dermatan sulfate in the urine and extremely low leukocyte ARSB activity. The deletion leads to a truncated protein that lacks most of the catalytic domain. The patient received recombinant human ARSB as enzyme replacement therapy at an early stage (2 years), and responded positively in terms of skeletal development and other developmental milestones
additional information
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ASB silencing or overexpression, silencing leads to reduced ASB activity, which than leads to increased chondroitin-4-sulfation, increased binding of kininogen, and reduced bradykinin release
