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
3.1.6.12
-
RECOMMENDED NAME
GeneOntology No.
N-acetylgalactosamine-4-sulfatase
REACTION
REACTION DIAGRAM
COMMENTARY
ORGANISM
UNIPROT ACCESSION NO.
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 ACCESSION NO.
COMMENTARY
LITERATURE
hydrolysis of sulfuric ester
-
-
-
-
PATHWAY
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.
SYNONYMS
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
LITERATURE
4-sulfatase
-
-
4-sulphatase
-
-
acetylgalactosamine 4-sulfatase
-
-
-
-
ARSB
P50430
-
arylsulfatase B
-
-
-
-
arylsulfatase B
P15848
-
arylsulfatase B
-
-
arylsulfatase B
-
-
arylsulfatase B
P50430
-
ASB
-
-
-
-
ASB
P15848
-
chondroitinase
-
-
-
-
chondroitinsulfatase
-
-
-
-
chondrosulfatase
-
similar enzyme
G4S
-
-
-
-
gastric chondrosulfohydrolase
-
similar enzyme
N-acetylgalactosamine 4-sulfatase
-
-
N-acetylgalactosamine 4-sulfatase
-
-
N-acetylgalactosamine 4-sulfate sulfohydrolase
-
-
-
-
N-acetylgalactosamine-4-sulfatase
-
-
-
-
N-acetylgalactosamine-4-sulfatase
-
-
N-acetylgalactosamine-4-sulfatase
-
recombinant
N-acetylgalactosamine-4-sulfatase
P15848
-
N-acetylgalactosamine-4-sulphatase
-
-
sulfatase, acetylgalactosamine 4-
-
-
-
-
CAS REGISTRY NUMBER
COMMENTARY
55354-43-3
-
ORGANISM
COMMENTARY
LITERATURE
SEQUENCE CODE
SEQUENCE DB
SOURCE
siamese cat, feline model of human Maroteaux-Lamy Syndrom
-
-
Manually annotated by BRENDA team
; precursor
SwissProt
Manually annotated by BRENDA team
mutant enzyme Y210C detected in 10% of the patients with mucopolysaccharidosis type VI
-
-
Manually annotated by BRENDA team
3 strains: C57BL/6J, SWR/J and A/J
-
-
Manually annotated by BRENDA team
healthy and Schistosoma-infected animals
-
-
Manually annotated by BRENDA team
GENERAL INFORMATION
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
LITERATURE
malfunction
-
ARSB mutations are involved in mucopolysaccharidosis type VI, i.e. MPS VI, Maroteaux-Lamy syndrome
malfunction
-
arylsulfatase B is associated with the lysosomal storage disease mucopolysaccharidosis VI
malfunction
-
ASB-deficient cells accumulate dermatan sulfate and chondroitin sulfate, which may be partially hydrolyzed by other lysosomal hydrolases
malfunction
-
mucopolysaccharidosis type VI, i.e. MPS VI or Maroteaux-Lamy syndrome, is a lysosomal storage disease in which deficient activity of the enzyme N-acetylgalactosamine 4-sulfatase impairs the stepwise degradation of the glycosaminoglycan dermatan sulfate
malfunction
-
mucopolysaccharidosis VI, MPS VI or Maroteaux-Lamy syndrome, is an inherited metabolic disease caused by the deficiency of N-acetylgalactosamine 4-sulfatase. In the absence of this enzyme, the stepwise degradation of the glycosaminoglycan dermatan sulfate is blocked, resulting in intracellular accumulation of the substrate into the lysosomes, leading to a progressive disorder with multiple organ and tissue involvement
malfunction
-
ARSB enzymatic activity is significantly greater in normal than in malignant tissue, inborn deficiency of ARSB leads to the lysosomal storage disease mucopolysaccharidosis VI, characterized by accumulation of sulfated glycosaminoglycans in vital organs, disruption of normal physiological processes, severe morbidity, and premature death
malfunction
-
silencing or overexpression of ASB in normal rat kidney epithelial cells in tissue culture modifies the content of total sulfated glycosaminoglycans, C4S, kininogen, and bradykinin in spent media and cell lysates. Treatment of the cultured cells with chondroitinase ABC also increases the secretion of bradykinin into the spent media and reduces the C4S-associated kininogen. When ASB is overexpressed, the cellular kininogen that associates with C4S declines, suggesting a vital role for chondroitin-4-sulfation in regulating the kininogen-C4S interaction
malfunction
P15848
deficiencies of N-acetylgalactosamine-4-sulfatase is associated with the mucopolysaccharidoses
physiological function
-
arylsulfatase B regulates interaction of chondroitin-4-sulfate and kininogen in renal epithelial cells. ASB activity may provide a link between salt responsiveness and the bradykinin-associated mechanism of blood pressure regulation
physiological function
-
ASB and chondroitin 4-sulafte are involved in regulation of interleukin-8 secretion
physiological function
-
arylsulfatase B removes 4-sulfate groups from the sulfated glycosaminoglycans chondroitin-4-sulfate and dermatan sulfate
physiological function
-
ASB, owing to its effect on chondroitin-4-sulfation, impacts on the kininogen-bradykinin axis and, thereby, may influence blood pressure
physiological function
-
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. Arylsulfatase B silencing increases the levels of sulfated glycosaminoglycans, chondroitin-4-sulfate, and neurocan in astrocytes and inhibits neurite outgrowth in cocultured neurons
physiological function
P34059
in human prostate stromal and epithelial cells, when arylsulfatase B is silenced, chondroitin-4-sulfate, versican and versican promoter activity increase, and the galectin-3 that co-immunoprecipitates with chondroitin-4-sulfate declines. Galectin-3 silencing inhibits the arylsulfatase B-silencing-induced increases in versican and versican promoter due to effects on the AP-1-binding site in the versican promoter
physiological function
-
in post-natal ventral rat prostate, a distinct and reciprocal localization of arylsulfatase B and N-acetylgalactosamine-6-sulfatase is seen, with arylsulfatase B predominant in the stroma and N-acetylgalactosamine-6-sulfatase predominant in the epithelium. Control arylsulfatase B activity increases significantly between days 5 and 30, but following estrogen exposure, activity is reduced and the observed increase on day 30 is inhibited
metabolism
P15848
modification of expression of the enzyme regulates the content of chondroitin sulfate
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 ACCESSION NO.
COMMENTARY
(Substrate)
LITERATURE
(Substrate)
COMMENTARY
(Product)
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-methylumbelliferone + sulfate
show the reaction diagram
-
-
-
-
?
4-methylumbelliferyl sulfate + H2O
4-methylumbelliferone + sulfate
show the reaction diagram
-
-
-
-
?
4-methylumbelliferyl sulfate + H2O
4-methylumbelliferone + sulfate
show the reaction diagram
-
-
-
-
?
4-methylumbelliferyl sulfate + H2O
4-methylumbelliferone + sulfate
show the reaction diagram
P15848
-
-
-
?
4-methylumbelliferyl sulfate + H2O
4-methylumbelliferol + sulfate
show the reaction diagram
-
-
-
-
?
4-methylumbelliferyl sulfate + H2O
sulfate + 4-methylumbelliferyl
show the reaction diagram
P15848
-
-
-
?
4-methylumbelliferyl sulfate + H2O
?
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 + H2O
chondroitin + sulfate
show the reaction diagram
-
-
-
-
?
chondroitin 4-sulfate + H2O
chondroitin + sulfate
show the reaction diagram
-
-
-
-
?
chondroitin 4-sulfate + H2O
chondroitin + sulfate
show the reaction diagram
-
-
-
-
?
chondroitin 4-sulfate + H2O
chondroitin + sulfate
show the reaction diagram
-
-
-
-
?
chondroitin 4-sulfate + H2O
chondroitin + sulfate
show the reaction diagram
-
-
-
-
?
chondroitin 4-sulfate + H2O
chondroitin + sulfate
show the reaction diagram
P15848
-
-
-
-
chondroitin 4-sulfate-heptasaccharide + H2O
chondroitin 4-sulfate-heptasaccharide + sulfate
show the reaction diagram
-
-
-
-
?
chondroitin 4-sulfate-heptasaccharide + H2O
chondroitin 4-sulfate-heptasaccharide + sulfate
show the reaction diagram
-
-
-
-
?
chondroitin 4-sulfate-heptasaccharide + H2O
chondroitin 4-sulfate-heptasaccharide + sulfate
show the reaction diagram
-
reduced activity in patients with Maroteaux-Lamy Syndrome
-
-
?
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
chondroitin + sulfate
show the reaction diagram
-
-
-
-
?
chondroitin sulfate + H2O
chondroitin + sulfate
show the reaction diagram
P15848
-
-
-
?
chondroitin sulfate + H2O
?
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
dermatan + sulfate
show the reaction diagram
-
-
-
-
?
dermatan sulfate + H2O
dermatan + sulfate
show the reaction diagram
-
-
-
-
?
dermatan sulfate + H2O
dermatan + sulfate
show the reaction diagram
-
-
-
-
?
dermatan sulfate + H2O
dermatan + sulfate
show the reaction diagram
-
-
-
-
?
dermatan sulfate + H2O
dermatan + sulfate
show the reaction diagram
P15848
-
-
-
?
dermatan sulfate + H2O
dermatan + sulfate
show the reaction diagram
-
reduced activity in patients with Maroteaux-Lamy Syndrome
-
-
?
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
-
-
?
dermatan sulfate + H2O
?
show the reaction diagram
-
-
-
-
?
dermatan sulfate + H2O
?
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-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
-
oligosaccharides
-
-
?
N-acetyl-D-galactosamine 4-sulfate + H2O
N-acetyl-D-galactosamine + 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 + H2O
N-acetyl-D-galactosamine + 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
-
acts also on N-acetylglucosamine 4-sulfate
-
-
?
N-acetyl-D-galactosamine 4-sulfate units + H2O
N-acetyl-D-galactosamine units + sulfate
show the reaction diagram
-
acts also on N-acetylglucosamine 4-sulfate
-
-
?
N-acetyl-D-galactosamine 4-sulfate units + H2O
N-acetyl-D-galactosamine units + sulfate
show the reaction diagram
-
acts also on N-acetylglucosamine 4-sulfate
-
-
?
N-acetyl-D-galactosamine 4-sulfate units + H2O
N-acetyl-D-galactosamine units + sulfate
show the reaction diagram
-
acts also on N-acetylglucosamine 4-sulfate
-
-
?
N-acetyl-D-galactosamine 4-sulfate units + H2O
N-acetyl-D-galactosamine units + sulfate
show the reaction diagram
-
acts also on N-acetylglucosamine 4-sulfate
-
-
?
N-acetyl-D-galactosamine 4-sulfate units + H2O
N-acetyl-D-galactosamine units + sulfate
show the reaction diagram
-
acts also on N-acetylglucosamine 4-sulfate
-
-
?
N-acetyl-D-galactosamine 4-sulfate units + H2O
N-acetyl-D-galactosamine units + sulfate
show the reaction diagram
-
acts also on N-acetylglucosamine 4-sulfate
-
-
?
N-acetyl-D-galactosamine 4-sulfate units + H2O
N-acetyl-D-galactosamine units + sulfate
show the reaction diagram
-
acts also on N-acetylglucosamine 4-sulfate
-
-
?
N-acetyl-D-galactosamine 4-sulfate units + H2O
N-acetyl-D-galactosamine units + sulfate
show the reaction diagram
-
acts also on N-acetylglucosamine 4-sulfate
-
-
?
N-acetyl-D-galactosamine 4-sulfate units + H2O
N-acetyl-D-galactosamine units + sulfate
show the reaction diagram
-
weak iduronate sulfatase activity
-
-
?
N-acetyl-D-galactosamine 4-sulfate units + H2O
N-acetyl-D-galactosamine units + sulfate
show the reaction diagram
-
no activity on galactosamine 6-sulfate
-
-
?
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-nitrocatechol sulfate + H2O
p-nitrocatechol + sulfate
show the reaction diagram
-
-
-
-
?
p-nitrocatechol sulfate + H2O
p-nitrocatechol + sulfate
show the reaction diagram
-
-
-
-
?
p-nitrocatechol sulfate + H2O
p-nitrocatechol + sulfate
show the reaction diagram
-
enzymes catalyze in addition to reaction of EC 3.1.6.12 also arylsulfatase reaction , see also EC 3.1.6.1
-
-
?
p-nitrocatechol sulfate + H2O
p-nitrocatechol + sulfate
show the reaction diagram
-
enzymes catalyze in addition to reaction of EC 3.1.6.12 also arylsulfatase reaction , see also EC 3.1.6.1
-
-
?
p-nitrocatechol sulfate + H2O
p-nitrocatechol + sulfate
show the reaction diagram
-
enzymes catalyze in addition to reaction of EC 3.1.6.12 also arylsulfatase reaction , see also EC 3.1.6.1
-
-
?
p-nitrocatechol sulfate + H2O
p-nitrocatechol + sulfate
show the reaction diagram
-
enzymes catalyze in addition to reaction of EC 3.1.6.12 also arylsulfatase reaction , see also EC 3.1.6.1
-
-
?
p-nitrophenyl sulfate + H2O
p-nitrophenol + 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
P15848
-
-
-
?
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
-
-
-
-
?
UDP-N-acetylgalactosamine-4-sulfate + H2O
UDP-N-acetylgalactosamine + sulfate
show the reaction diagram
-
-
-
-
?
UDP-N-acetylgalactosamine-4-sulfate + H2O
UDP-N-acetylgalactosamine + sulfate
show the reaction diagram
-
-
-
-
?
UDP-N-acetylgalactosamine-4-sulfate + H2O
UDP-N-acetylgalactosamine + sulfate
show the reaction diagram
-
-
-
-
?
glucosamine 4,6-disulfate + H2O
glucosamine 6-sulfate + sulfate
show the reaction diagram
-
-
-
-
?
additional information
?
-
P15848
mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-4-sulfatase. Mutations in the N-acetylgalactosamine-4-sulfatase gene are responsible for 4S deficiency, which leads to the intralysosomal storage of partially degraded glycosaminoglycan, dermatan sulfate, and chondroitin 4-sulfate
-
-
-
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
-
-
-
additional information
?
-
-
ARSB removes 4-sulfate groups from the nonreducing end of chondroitin-4-sulfate and dermatan sulfate
-
-
-
additional information
?
-
-
ASB is a lysosomal exohydrolase, cleaving the 4-sulfate from the N-acetylgalactosamine-4-sulfate residue at the nonreducing terminal of glycosaminoglycan structures
-
-
-
NATURAL SUBSTRATES
NATURAL PRODUCTS
REACTION DIAGRAM
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
(Substrate)
LITERATURE
(Substrate)
COMMENTARY
(Product)
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 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
dermatan + 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
-
-
-
-
?
N-acetyl-D-galactosamine 4-sulfate units + H2O
N-acetyl-D-galactosamine units + sulfate
show the reaction diagram
-
acts also on N-acetylglucosamine 4-sulfate
-
-
?
N-acetyl-D-galactosamine 4-sulfate units + H2O
N-acetyl-D-galactosamine units + sulfate
show the reaction diagram
-
acts also on N-acetylglucosamine 4-sulfate
-
-
?
N-acetyl-D-galactosamine 4-sulfate units + H2O
N-acetyl-D-galactosamine units + sulfate
show the reaction diagram
-
acts also on N-acetylglucosamine 4-sulfate
-
-
?
N-acetyl-D-galactosamine 4-sulfate units + H2O
N-acetyl-D-galactosamine units + sulfate
show the reaction diagram
-
acts also on N-acetylglucosamine 4-sulfate
-
-
?
N-acetyl-D-galactosamine 4-sulfate units + H2O
N-acetyl-D-galactosamine units + sulfate
show the reaction diagram
-
acts also on N-acetylglucosamine 4-sulfate
-
-
?
N-acetyl-D-galactosamine 4-sulfate units + H2O
N-acetyl-D-galactosamine units + sulfate
show the reaction diagram
-
acts also on N-acetylglucosamine 4-sulfate
-
-
?
N-acetyl-D-galactosamine 4-sulfate units + H2O
N-acetyl-D-galactosamine units + sulfate
show the reaction diagram
-
acts also on N-acetylglucosamine 4-sulfate
-
-
?
N-acetyl-D-galactosamine 4-sulfate units + H2O
N-acetyl-D-galactosamine units + sulfate
show the reaction diagram
-
acts also on N-acetylglucosamine 4-sulfate
-
-
?
N-acetyl-D-galactosamine 4-sulfate units + H2O
N-acetyl-D-galactosamine units + sulfate
show the reaction diagram
-
acts also on N-acetylglucosamine 4-sulfate
-
-
?
N-acetyl-D-galactosamine 4-sulfate units + H2O
N-acetyl-D-galactosamine units + sulfate
show the reaction diagram
-
weak iduronate sulfatase activity
-
-
?
N-acetyl-D-galactosamine 4-sulfate units + H2O
N-acetyl-D-galactosamine units + sulfate
show the reaction diagram
-
no activity on galactosamine 6-sulfate
-
-
?
dermatan sulfate + H2O
?
show the reaction diagram
-
-
-
-
?
additional information
?
-
P15848
mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-4-sulfatase. Mutations in the N-acetylgalactosamine-4-sulfatase gene are responsible for 4S deficiency, which leads to the intralysosomal storage of partially degraded glycosaminoglycan, dermatan sulfate, and chondroitin 4-sulfate
-
-
-
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
-
-
-
additional information
?
-
-
ARSB removes 4-sulfate groups from the nonreducing end of chondroitin-4-sulfate and dermatan sulfate
-
-
-
additional information
?
-
-
ASB is a lysosomal exohydrolase, cleaving the 4-sulfate from the N-acetylgalactosamine-4-sulfate residue at the nonreducing terminal of glycosaminoglycan structures
-
-
-
METALS and IONS
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
LITERATURE
Ca2+
-
-
CaCl2
-
-
chloride
-
affects the enzyme activity
Cl-
-
activation
Mg2+
-
stimulates
Mn2+
-
stimulates
NaCl
-
-
phosphate
-
affects the enzyme activity
Zn(CH3COO)2
-
50% activation at 10 mM
INHIBITORS
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
LITERATURE
IMAGE
Ba2+
-
not; slight
Carbobenzoxyglucosamine 4,6-disulfate
-
competitive to nitrocatechol
Cu2+
-
bivalent cations are inhibitory
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
-
-
Mn2+
-
slight
Na2HPO4
-
-
phosphate
-
-
praziquantel
-
-
UDP-N-acetylgalactosamine 4-sulfate
-
competitive to nitrocatechol
ACTIVATING COMPOUND
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
LITERATURE
IMAGE
acetate
-
-
Cysteine hydrochloride
-
-
dithiothreitol
-
-
EDTA
-
60% activation at 10 mM
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]
KM VALUE [mM] Maximum
SUBSTRATE
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
LITERATURE
IMAGE
0.06
-
4-Methylumbelliferyl sulfate
-
pH 3.5
4
-
4-Methylumbelliferyl sulfate
-
pH 5.5
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
-
nitrocatechol sulfate
-
-
1.2
-
nitrocatechol sulfate
-
-
3.6
-
nitrocatechol sulfate
-
-
1.3
-
p-nitrocatechol sulfate
-
-
3
-
p-nitrocatechol sulfate
-
pH 6.0, 37C, Schistosoma-infected animals
3.2
-
p-nitrocatechol sulfate
-
pH 7.4, 37C, enzyme from animals infected with Schistosoma mansoni
3.5
-
p-nitrocatechol sulfate
-
pH 6.0, 37C, healthy animals
3.9
-
p-nitrocatechol sulfate
-
pH 7.4, 37C, enzyme from animals without infection
10.8
-
p-Nitrophenyl sulfate
-
-
0.013
-
UDP-N-acetylgalactosamine 4-sulfate
-
-
0.43
-
UDP-N-acetylgalactosamine 4-sulfate
-
-
TURNOVER NUMBER [1/s]
TURNOVER NUMBER MAXIMUM[1/s]
SUBSTRATE
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
LITERATURE
IMAGE
143
-
nitrocatechol sulfate
-
-
Ki VALUE [mM]
Ki VALUE [mM] Maximum
INHIBITOR
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
LITERATURE
IMAGE
0.55
-
praziquantel
-
pH 6.0, 37C
SPECIFIC ACTIVITY [µmol/min/mg]
SPECIFIC ACTIVITY MAXIMUM
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
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
pH MAXIMUM
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
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
-
-
UDP-N-acetylgalactosamine 4-sulfate
5
-
-
-
5.3
-
-
wild-type and mutant enzyme
5.5
-
-
4-methylumbelliferyl sulfate
5.6
-
-
nitrocatechol sulfate
5.6
-
-
assay at
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
pH RANGE MAXIMUM
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
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
TEMPERATURE OPTIMUM MAXIMUM
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
LITERATURE
37
-
-
assay at
37
-
-
assay at
37
-
-
assay at
45
-
-
assay at
SOURCE TISSUE
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
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
-
brochial and renal
Manually annotated by BRENDA team
-
of animals infected with Schistosoma mansoni. The infection causes a significant increase in activity of arylsulfatase B
Manually annotated by BRENDA team
-
or NRK-E52 cell, renal epithelial cell
Manually annotated by BRENDA team
-
prostate cancer
Manually annotated by BRENDA team
-
in post-natal ventral rat prostate, a distinct and reciprocal localization of arylsulfatase B and N-acetylgalactosamine-6-sulfatase is seen, with arylsulfatase B predominant in the stroma and N-acetylgalactosamine-6-sulfatase predominant in the epithelium. Control arylsulfatase B activity increases significantly between days 5 and 30, but following estrogen exposure, activity is reduced and the observed increase on day 30 is inhibited
Manually annotated by BRENDA team
P34059
prostrate stromal and epithelial cells
Manually annotated by BRENDA team
-
cultured fibroblasts
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 ACCESSION NO.
COMMENTARY
GeneOntology No.
LITERATURE
SOURCE
additional information
-
extra-lysosomal enzyme localization
-
Manually annotated by BRENDA team
MOLECULAR WEIGHT
MOLECULAR WEIGHT MAXIMUM
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
LITERATURE
43000
-
-
gel filtration, SDS-PAGE
43000
-
-
gel filtration, SDS-PAGE; under reducing conditions
43000
-
-
gel filtration, SDS-PAGE; under reducing conditions
45000
-
-
gel filtration
47000
54000
-
gel filtration
47000
-
-
gel filtration
48000
-
-
gel filtration
55000
-
-
gel filtration
56000
-
-
equilibrium sedimentation
57000
61000
-
sedimentation equilibrium
57000
61000
-
diffuse band, unreduced PAGE
57000
-
-
SDS-PAGE
58000
-
-
SDS-PAGE
60000
-
-
equilibrium sedimentation
84000
-
-
gel filtration, non-denaturing PAGE
100000
-
-
gel filtration
SUBUNITS
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
LITERATURE
?
-
x * 60000, SDS-PAGE
dimer
-
-
dimer
-
2 * 41000, SDS-PAGE after suberimidate treatment
dimer
-
2 * 43000, SDS-PAGE after treatment with reducing agent
monomer
-
-
monomer
-
-
monomer
-
1 * 38000, SDS-PAGE
monomer
-
1 * 50000, SDS-PAGE, gel filtration
monomer
-
1 * 57000, composed of 2 peptides 1 * 43000, 1 * 13000
POSTTRANSLATIONAL MODIFICATION
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
LITERATURE
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
glycoprotein
-
fucosylated complex, reaction with lectins
glycoprotein
-
the wild-type enzyme has three N-glycosylation sites. Only oligosaccharides at the first, Asn158, and the third, Asn350, glycosylation site are phosphorylated, whereas the second, Asn184 is not
additional information
-
conversion of an active-site cysteine into a formylglycine
Crystallization/COMMENTARY
ORGANISM
UNIPROT ACCESSION NO.
LITERATURE
Ca2+ is bound to the active-site cysteine residue
-
pH STABILITY
pH STABILITY MAXIMUM
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
LITERATURE
5.9
-
-
maximal thermal stability at pH 5.9, rapid decline above pH 6 and below pH 5
TEMPERATURE STABILITY
TEMPERATURE STABILITY MAXIMUM
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
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
60
-
-
20 min; pH 5.9
60
-
-
20 min; t1/2: 68 min
60
-
-
20 min; t1/2: 30 min
60
-
-
20 min; 75% loss of activity
64
-
-
loss of activity
65
-
-
19 min; t1/2 of A/J enzyme: 20 min; t1/2 of SWR/J enzyme: 46 min
65
-
-
26 min; 72 min; t1/2 of C57BL/6J enzyme: 30 min
GENERAL STABILITY
ORGANISM
UNIPROT ACCESSION NO.
LITERATURE
thawing and freezing, stable at -20C, 6 months with occasional thawing and refreezing
-
freezing, purified enzyme, rapid loss of activity, after 24 h irreversible
-
OXIDATION STABILITY
ORGANISM
UNIPROT ACCESSION NO.
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 ACCESSION NO.
LITERATURE
-20C, 6 months, with occasional thawing and refreezing, no loss of activity
-
-20C, 1 month, no loss of activity
-
Purification/COMMENTARY
ORGANISM
UNIPROT ACCESSION NO.
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 ACCESSION NO.
LITERATURE
expression in CHO cells
-
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
P15848
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 ACCESSION NO.
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 ACCESSION NO.
COMMENTARY
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
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
-
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
C447S
-
associated with the severe phenotype of mucopolysaccharidosis type VI
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
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
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
G171D
-
associated with the attenuated phenotype of mucopolysaccharidosis type VI
G171S
-
associated with the attenuated 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
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
H393P
-
mutation in MPS IV patient
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
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
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
-
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 MPS IV patient
L498P
-
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, second mutation T92M, mild 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
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
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
P531R
-
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, mild phenotype
P531R
-
associated with the attenuated phenotype of mucopolysaccharidosis type VI
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
-
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
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
-
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, heterozygote of the R315X and Y513W alleles, severe phenotype
R315X
-
a narturally occuring mutationiin exon 5 of the ARSB gene causing reduced enzyme activity
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
-
mutation in MPS IV patient
R95Q
-
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, second mutation H393P, severe phenotype, 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
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
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
T442M
-
associated with the attenuated phenotype of mucopolysaccharidosis type VI
T442R
-
associated with the attenuated phenotype of mucopolysaccharidosis type VI
T92M
-
mutation in MPS IV patient
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
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
Y210C
-
mutation in MPS IV patient
Y210C
-
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, second mutation H393P, intermediate phenotype. Second mutation R95Q, mild phenotype
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
M142I
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mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, intermediate phenotype
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
Y210C
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causes small structural changes, associated with the attenuated phenotype of mucopolysaccharidosis type VI
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
APPLICATION
ORGANISM
UNIPROT ACCESSION NO.
COMMENTARY
LITERATURE
medicine
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enzyme replacement in MPS IV feline fibroblast
diagnostics
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altered ARSB immunostaining and reduced activity may be useful indicators of malignant transformation in human colonic tissue
medicine
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enzyme replacement in MPS IV feline fibroblast
medicine
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deficiency in Maroteaux-Lamy syndrome, mucopolysaccharidosis type IV
medicine
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application of recombinant enzyme may give improvement in mucopolysaccheridosis VI
medicine
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deficiency of arylsulfatase B causes mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)
medicine
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mucopolysaccharidosis type VI is a lysosomal storage disease in which deficient activity of the enzyme arylsulfatase B impairs the stepwise degradation of the glycosaminoglycan dermatan sulfate
medicine
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intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis, overview
medicine
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usage of ASB for enzyme replacement therapy in mucopolysaccharidosis type VI, overview
medicine
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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
nutrition
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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
medicine
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in prostatic malignancy, activity of arylsulfatase B declines. Arylsulfatase B may be useful as a biomarker of prostate cancer. In 82% of paired cases, the biochemical recurrences show lower arylsulfatase B immunostaining at the time of prostatectomy. Arylsulfatase B immunostaining is inversely associated with Gleason scores for epithelial and stromal compartments separately and in combination. Arylsulfatase B activity is significantly less in the malignant compared to normal tissue. In association with reduced arylsulfatase B activity, total sulfated glycosaminoglycans and chondroitin-4-sulfate content are increased in the malignant prostatic tissue, and the chondroitin-4-sulfate containing matrix proteoglycan versican is also increased
additional information
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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