Information on EC 3.1.6.12 - N-acetylgalactosamine-4-sulfatase

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The expected taxonomic range for this enzyme is: Coelomata

EC NUMBER
COMMENTARY hide
3.1.6.12
-
RECOMMENDED NAME
GeneOntology No.
N-acetylgalactosamine-4-sulfatase
REACTION
REACTION DIAGRAM
COMMENTARY hide
ORGANISM
UNIPROT
LITERATURE
hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate
show the reaction diagram
-
-
-
-
REACTION TYPE
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
hydrolysis of sulfuric ester
-
-
-
-
PATHWAY
BRENDA Link
KEGG Link
MetaCyc Link
Glycosaminoglycan degradation
-
-
Metabolic pathways
-
-
SYSTEMATIC NAME
IUBMB Comments
N-acetyl-D-galactosamine-4-sulfate 4-sulfohydrolase
Acts also on N-acetylglucosamine 4-sulfate.
CAS REGISTRY NUMBER
COMMENTARY hide
55354-43-3
-
ORGANISM
COMMENTARY hide
LITERATURE
UNIPROT
SEQUENCE DB
SOURCE
-
-
-
Manually annotated by BRENDA team
-
-
-
Manually annotated by BRENDA team
-
-
-
Manually annotated by BRENDA team
GENERAL INFORMATION
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
malfunction
metabolism
modification of expression of the enzyme regulates the content of chondroitin sulfate
physiological function
additional information
-
a relatively high rate of immunotolerance towards recombinant human N-acetylgalactosamine-4-sulfatase can be achieved in MPS-VI cats with a shortcourse tolerisation regimen ultimately permitting removal of lysosomal storage within the dura mater with the use of intrathecal therapy
SUBSTRATE
PRODUCT                       
REACTION DIAGRAM
ORGANISM
UNIPROT
COMMENTARY
(Substrate) hide
LITERATURE
(Substrate)
COMMENTARY
(Product) hide
LITERATURE
(Product)
Reversibility
r=reversible
ir=irreversible
?=not specified
(2-acetamido-2-deoxy-O-(beta-D-glucuronic acid)-4-O-sulpho-D-galactose)2 + H2O
(2-acetamido-2-deoxy-O-(beta-D-glucuronic acid)-D-galactose)2 + sulfate
show the reaction diagram
-
exo-sulfatase, stepwise degradation of glycosaminoglycans
-
-
?
4-methylumbelliferyl sulfate + H2O
4-methylumbelliferol + sulfate
show the reaction diagram
-
-
-
-
?
4-methylumbelliferyl sulfate + H2O
4-methylumbelliferone + sulfate
show the reaction diagram
4-methylumbelliferyl sulfate + H2O
?
show the reaction diagram
-
-
-
-
?
4-methylumbelliferyl sulfate + H2O
sulfate + 4-methylumbelliferone
show the reaction diagram
-
-
-
?
4-nitrocatechol sulfate + H2O
4-nitrocatechol + sulfate
show the reaction diagram
-
-
-
-
?
carbobenzoxyglucosamine 4,6-disulfate + H2O
carbobenzoxyglucosamine 6-sulfate + sulfate
show the reaction diagram
-
-
-
-
?
chondroitin 4-sulfate + H2O
chondroitin + sulfate
show the reaction diagram
chondroitin 4-sulfate-heptasaccharide + H2O
chondroitin 4-sulfate-heptasaccharide + sulfate
show the reaction diagram
chondroitin 4-sulfate-tetrasaccharide + H2O
chondroitin 4-sulfate-tetrasaccharide + sulfate
show the reaction diagram
-
only the 4-sulfated endgroup is attacked by the enzyme, sulfate is released only in presence of beta-glucuronidase, acts as exosulphatase
-
-
?
chondroitin sulfate + H2O
?
show the reaction diagram
chondroitin sulfate + H2O
chondroitin + sulfate
show the reaction diagram
chondroitin-4-sulfate + H2O
chondroitin + sulfate
show the reaction diagram
-
arylsulfatase B removes 4-sulfate groups from the sulfated glycosaminoglycans chondroitin-4-sulfate and dermatan sulfate
-
-
?
dermatan sulfate + H2O
?
show the reaction diagram
dermatan sulfate + H2O
dermatan + sulfate
show the reaction diagram
glucosamine 4,6-disulfate + H2O
glucosamine 6-sulfate + sulfate
show the reaction diagram
-
-
-
-
?
N-acetygalactosamine 4-sulfate-(1-4)-beta-glucuronic acid-(1-3)-beta-N-acetylgalactosaminitol 4-sulfate + H2O
N-acetygalactosamine-(1-4)-beta glucuronic acid-(1-3)-beta N-acetylgalactosaminitol 4-sulfate + sulfate
show the reaction diagram
N-acetyl-D-galactosamine 4-sulfate + H2O
N-acetyl-D-galactosamine + sulfate
show the reaction diagram
N-acetyl-D-galactosamine 4-sulfate units + H2O
N-acetyl-D-galactosamine units + sulfate
show the reaction diagram
N-acetylgalactosamine 4,6-bisulfate-(beta-glucuronosyl-(1-3)-N-acetylgalactosamine 4-sulfate)3 + H2O
N-acetylgalactosamine 6-sulfate-(beta-glucuronosyl-(1-3)-N-acetylgalactosamine)3 + sulfate
show the reaction diagram
-
hydrolysis only at the nonreducing residues
-
-
?
N-acetylgalactosamine 4-sulfate + H2O
N-acetylgalactosamine + sulfate
show the reaction diagram
-
-
-
-
?
N-acetylgalactosamine 4-sulfate-(beta-glucuronosyl-(1-3)-N-acetylgalactosamine 4-sulfate)2 + H2O
N-acetylgalactosamine-(beta-glucuronosyl-(1-3)-N-acetylgalactosamine 4-sulfate)2 + sulfate
show the reaction diagram
-
only the 4-sulfated endgroup is attacked by the enzyme
-
-
?
N-acetylgalactosamine 4-sulfate-(beta-glucuronosyl-(1-3)-N-acetylgalactosamine 4-sulfate)3 + H2O
N-acetylgalactosamine-(beta-glucuronosyl-(1-3)-N-acetylgalactosamine)3 + sulfate
show the reaction diagram
-
only the 4-sulfated endgroup is attacked by the enzyme
-
-
?
N-acetylgalactosamine 4-sulfate-(beta-glucuronosyl-(1-3)-N-acetylgalactosamine 4-sulfate)4 + H2O
N-acetylgalactosamine-(beta-glucuronosyl-(1-3)-N-acetylgalactosamine 4-sulfate)4 + sulfate
show the reaction diagram
-
only the 4-sulfated endgroup is attacked by the enzyme
-
-
?
N-acetylgalactosamine 4-sulfate-beta-glucuronosyl-(1-3)-N-acetylgalactosamine 4-sulfate + H2O
N-acetylgalactosamine-beta-glucuronosyl-(1-3)-N-acetylgalactosamine 4-sulfate + sulfate
show the reaction diagram
-
-
-
-
?
N-acetylglucosamine 4-sulfate + H2O
N-acetylglucosamine + sulfate
show the reaction diagram
-
-
-
-
?
p-nitrocatechol sulfate + H2O
p-nitrocatechol + sulfate
show the reaction diagram
p-nitrophenyl sulfate + H2O
p-nitrophenol + sulfate
show the reaction diagram
sulfated glycosaminoglycan + H2O
glycosaminoglycan + sulfate
show the reaction diagram
-
-
-
?
UDP-N-acetylgalactosamine 4,6-bisulfate + H2O
UDP-N-acetylgalactosamine 6-sulfate + sulfate
show the reaction diagram
-
-
-
-
?
UDP-N-acetylgalactosamine-4-sulfate + H2O
UDP-N-acetylgalactosamine + sulfate
show the reaction diagram
additional information
?
-
NATURAL SUBSTRATES
NATURAL PRODUCTS
REACTION DIAGRAM
ORGANISM
UNIPROT
COMMENTARY
(Substrate) hide
LITERATURE
(Substrate)
COMMENTARY
(Product) hide
LITERATURE
(Product)
REVERSIBILITY
r=reversible
ir=irreversible
?=not specified
chondroitin 4-sulfate + H2O
chondroitin + sulfate
show the reaction diagram
-
-
-
-
?
chondroitin sulfate + H2O
?
show the reaction diagram
chondroitin-4-sulfate + H2O
chondroitin + sulfate
show the reaction diagram
-
arylsulfatase B removes 4-sulfate groups from the sulfated glycosaminoglycans chondroitin-4-sulfate and dermatan sulfate
-
-
?
dermatan sulfate + H2O
?
show the reaction diagram
dermatan sulfate + H2O
dermatan + sulfate
show the reaction diagram
-
arylsulfatase B removes 4-sulfate groups from the sulfated glycosaminoglycans chondroitin-4-sulfate and dermatan sulfate
-
-
?
N-acetyl-D-galactosamine 4-sulfate units + H2O
N-acetyl-D-galactosamine units + sulfate
show the reaction diagram
additional information
?
-
METALS and IONS
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
Ca2+
-
-
CaCl2
-
-
chloride
Cl-
-
activation
Mg2+
-
stimulates
NaCl
-
-
phosphate
Zn(CH3COO)2
-
50% activation at 10 mM
INHIBITORS
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
IMAGE
Borate
Ca2+
-
-
Carbobenzoxyglucosamine 4,6-disulfate
-
competitive to nitrocatechol
ethanol
-
astrocyte treatment with ethanol inhibits the activity of arylsulfatase B, and triggers the degradation of chondroitin-4-sulfate, increases total sulfated glycosaminoglycans, chondroitin-4-sulfate and neurocan core-protein content and inhibits neurite outgrowth in neurons cocultured with ethanol-treated astrocytes in vitro. Ethanol also inhibits arylsulfatase B activity and increases sulfated glycosaminoglycans and neurocan levels in the developing hippocampus after in vivo ethanol exposure
Glucosamine 4,6-disulfate
-
competitive to nitrocatechol
heparin
-
-
iodoacetate
-
-
K2HPO4
KCl
-
at 10 mM
Na2HPO4
NaCl
-
at 10 mM
NaF
-
-
phosphate
-
-
praziquantel
-
-
UDP-N-acetylgalactosamine 4-sulfate
-
competitive to nitrocatechol
vanadate
-
-
ACTIVATING COMPOUND
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
IMAGE
acetate
-
-
Cysteine hydrochloride
-
-
dithiothreitol
-
-
vanadate
-
maximal activation achieved for mutant arylsulfatase B C91S at highest vanadate concentration of 0.4 mM with concomitant irradation for 120 min
KM VALUE [mM]
SUBSTRATE
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
IMAGE
0.06 - 5.6
4-Methylumbelliferyl sulfate
0.03
N-acetylgalactosamine 4-sulfate-(beta-glucuronosyl-(1-3)-N-acetylgalactosamine 4-sulfate)2
-
-
-
0.049
N-acetylgalactosamine 4-sulfate-(beta-glucuronosyl-(1-3)-N-acetylgalactosamine 4-sulfate)3
-
-
-
0.064
N-acetylgalactosamine 4-sulfate-(beta-glucuronosyl-(1-3)-N-acetylgalactosamine 4-sulfate)4
-
-
-
0.027
N-acetylgalactosamine 4-sulfate-beta-glucuronosyl-(1-3)-N-acetylgalactosamine 4-sulfate
-
-
-
1.86
nitrocatechol 4-sulfate
-
-
0.8 - 3.6
nitrocatechol sulfate
1.3 - 3.9
p-nitrocatechol sulfate
10.8
p-Nitrophenyl sulfate
-
-
0.013 - 0.43
UDP-N-acetylgalactosamine 4-sulfate
TURNOVER NUMBER [1/s]
SUBSTRATE
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
IMAGE
143
nitrocatechol sulfate
Bos taurus
-
-
Ki VALUE [mM]
INHIBITOR
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
IMAGE
0.55
praziquantel
-
pH 6.0, 37C
SPECIFIC ACTIVITY [µmol/min/mg]
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
0.00129
-
in cystic fibrosis N6 cells
0.00138
-
in cystic fibrosis IB3-1 cells
0.00193
-
in cystic fibrosis C38 cells
0.005
-
in cystic fibrosis C38 cells with 50% 1 M phosphate buffered saline in reaction mixture
0.282
-
-
1.68
-
enzyme from animals without infection
2.335
-
enzyme from animals infected with Schistosoma mansoni
30.7
-
strain A/J
59.55
-
strain SWR/J
67.53
-
strain C57BL/6J
93.3
-
nitrocatechol sulfate
pH OPTIMUM
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
3.5
-
UDP-N-acetylgalactosamine 4-sulfate
3.8
-
oligosaccharide substrate, formate buffer
4 - 4.8
-
substrate-dependent
4.4
-
oligosaccharide substrate, acetate buffer or dimethylglutarate buffer
4.8
-
chondroitin 4-sulfate
5.3
-
wild-type and mutant enzyme
5.5
-
4-methylumbelliferyl sulfate
6
-
enzyme from animals without infection, maximal activity is about 60% of the activity of the enzyme from animals infected with Schistosoma mansoni
6.1
-
nitrocatechol sulfate
7
-
enzyme from animals infected with Schistosoma mansoni
8.2
-
assay at
pH RANGE
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
3 - 5
-
pH 3.0: about 85% of activity maximum, pH 5.0: about 15% of activity maximum
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
4.8 - 8
-
pH 4.8: about 80% of maximal activity, pH 8.0: about 60% of maximal activity, enzyme from animals infected with Schistosoma mansoni
5 - 7
-
pH 5.0: about 20% of maximal activity, pH 7.0: about 55% of maximal activity enzyme from animals without infection
TEMPERATURE OPTIMUM
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
45
-
assay at
SOURCE TISSUE
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
SOURCE
-
ARSB enzymatic activity is significantly greater in normal than in malignant tissue
Manually annotated by BRENDA team
-
ARSB enzymatic activity is significantly greater in normal than in malignant tissue
Manually annotated by BRENDA team
-
cultured embryo vertebral chondrocytes
Manually annotated by BRENDA team
-
; ARSB enzymatic activity is significantly greater in normal than in malignant tissue
Manually annotated by BRENDA team
-
recombinant enzyme
Manually annotated by BRENDA team
-
-
Manually annotated by BRENDA team
-
-
Manually annotated by BRENDA team
-
or NRK-E52 cell, renal epithelial cell
Manually annotated by BRENDA team
additional information
-
differences in distribution, intensity, and pattern of ARSB staining among normal colon, adenomas, and adenocarcinomas, overview. Distinctive, intense luminal membrane staining is present in the normal epithelial cells but reduced in the malignancies and less in the grade 3 than in the grade 1 adenocarcinomas. ARSB enzymatic activity is significantly greater in normal than in malignant tissue, detailed overview
Manually annotated by BRENDA team
LOCALIZATION
ORGANISM
UNIPROT
COMMENTARY hide
GeneOntology No.
LITERATURE
SOURCE
additional information
-
extra-lysosomal enzyme localization
-
Manually annotated by BRENDA team
PDB
SCOP
CATH
ORGANISM
UNIPROT
MOLECULAR WEIGHT
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
45000
-
gel filtration
47000 - 54000
-
gel filtration
47000
-
gel filtration
48000
-
gel filtration
55000
-
gel filtration
56000
-
equilibrium sedimentation
57000 - 61000
57000
-
SDS-PAGE
58000
-
SDS-PAGE
60000
-
equilibrium sedimentation
84000
-
gel filtration, non-denaturing PAGE
100000
-
gel filtration
SUBUNITS
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
?
-
x * 60000, SDS-PAGE
monomer
POSTTRANSLATIONAL MODIFICATION
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
glycoprotein
phosphoprotein
-
compared to degree of mannose-phosphorylation of the wild-type enzyme the mutant enzyme K457R has 33%, mutant enzyme K457S has 50%, mutant enzyme K457G has 31% mutant enzyme K433A has 95%, mutant enzyme K367A has 106% and mutant enzyme K393A has 123% of mannose-phosphorylation
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
additional information
-
conversion of an active-site cysteine into a formylglycine
Crystallization/COMMENTARY
ORGANISM
UNIPROT
LITERATURE
Ca2+ is bound to the active-site cysteine residue
-
pH STABILITY
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
5.9
-
maximal thermal stability at pH 5.9, rapid decline above pH 6 and below pH 5
135541
TEMPERATURE STABILITY
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
10 - 70
-
pH 6.0, the enzyme from animals infected with Schistosoma mansoni shows more stability than that of the control, the stability at 50C is identical to the enzyme from control
64
-
loss of activity
GENERAL STABILITY
ORGANISM
UNIPROT
LITERATURE
freezing, purified enzyme, rapid loss of activity, after 24 h irreversible
-
thawing and freezing, stable at -20C, 6 months with occasional thawing and refreezing
-
OXIDATION STABILITY
ORGANISM
UNIPROT
LITERATURE
photooxidation, with 1 mM Rose Bengal, 80% inactivation, no inactivation in presence of 1 mM pyridoxal phosphate and 30 mM 4-nitrocatechol
-
135544
STORAGE STABILITY
ORGANISM
UNIPROT
LITERATURE
-20C, 1 month, no loss of activity
-
-20C, 6 months, with occasional thawing and refreezing, no loss of activity
-
Purification/COMMENTARY
ORGANISM
UNIPROT
LITERATURE
mutant C91S purified on a anti-ASB affinity column prepared by coupling the antibody with NHS-sepharose beads; mutant enzyme C91S
-
Cloned/COMMENTARY
ORGANISM
UNIPROT
LITERATURE
ARSB, genotyping of wild-type and mutants
-
expressed in Escherichia coli
-
expression in CHO cells
expression in MCF-7 cells; expression in MCF-7 cells. Following overexpression of the enzyme, total sulfated glycosaminoglycans, chondroitin 4-sulfate, and chondroitin sulfates declines significantly
expression of ASB C53S mutant in CHO cells
-
mutant protein Y210C is expressed in CHO-K1 cells
-
mutants are expressed in COS-7 cells
-
overexpression in CHO-K1
-
wild-type and mutant enzymes transiently transfected into BHK cells
-
EXPRESSION
ORGANISM
UNIPROT
LITERATURE
differences in distribution, intensity, and pattern of ARSB staining among normal colon, adenomas, and adenocarcinomas is shown. Distinctive, intense luminal membrane staining is present in the normal epithelial cells but reduced in the malignancies and less in the grade 3 than in the grade 1 adenocarcinomas. In the normal cores, a distinctive pattern of intense cytoplasmic positivity at the luminal surface is followed by reduced staining deeper in the crypts
-
ENGINEERING
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
L476P
-
mutation in MPS IV cats
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
C447S
-
associated with the severe phenotype of mucopolysaccharidosis type VI
C53S
-
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
-
catalytically inactive enzyme can be converted into an active enzyme form by vanadate and light; present at significantly higher levels in conditioned media when compared with the wild type
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
G171D
-
associated with the attenuated phenotype of mucopolysaccharidosis type VI
G171S
-
associated with the attenuated phenotype of mucopolysaccharidosis type VI
G308R
-
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
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
-
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
-
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
-
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
-
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
-
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
-
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
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
-
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
M142I
-
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, intermediate phenotype
P313A
-
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
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
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
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
S240F
-
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
T442M
-
associated with the attenuated phenotype of mucopolysaccharidosis type VI
T442R
-
associated with the attenuated phenotype of mucopolysaccharidosis type VI
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
-
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
additional information
APPLICATION
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
diagnostics
-
altered ARSB immunostaining and reduced activity may be useful indicators of malignant transformation in human colonic tissue
medicine
nutrition
-
in the renal tissue of Dahl salt-sensitive rats exposed to high salt diet, arylsulfatase B activity is significantly less than in Dahl salt-sensitive rats exposed to low salt diet, and chondroitin-4-sulfate and total sulfated glycosaminoglycan content are significantly greater. A marked increase in chondroitin-4-sulfate disaccharidesis observed in the renal tissue of the rats exposed to high salt diet. Unsulfated, hyaluronan-derived disaccharides are increased in the rats on the low salt diet. In the rats on high salt diet, with lower arylsulfatase B activity and higher chondroitin-4-sulfate levels, cell-bound, high-molecular weight kininogen is greater and urinary bradykinin is lower. Arylsulfatase B activity in renal tissue and normal rat kidney cells declines when exogenous chloride concentration is increased in vitro
additional information
-
a relatively high rate of immunotolerance towards recombinant human N-acetylgalactosamine-4-sulfatase can be achieved in MPS-VI cats with a shortcourse tolerisation regimen ultimately permitting removal of lysosomal storage within the dura mater with the use of intrathecal therapy