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Tbio Arylsulfatase B

Removes sulfate groups from chondroitin-4-sulfate (C4S) and regulates its degradation (PubMed:19306108). Involved in the regulation of cell adhesion, cell migration and invasion in colonic epithelium (PubMed:19306108). In the central nervous system, is a regulator of neurite outgrowth and neuronal plasticity, acting through the control of sulfate glycosaminoglycans and neurocan levels (By similarity).

Arylsulfatase B encoded by this gene belongs to the sulfatase family. The arylsulfatase B homodimer hydrolyzes sulfate groups of N-Acetyl-D-galactosamine, chondriotin sulfate, and dermatan sulfate. The protein is targetted to the lysozyme. Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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Property Summary

NCBI Gene PubMed Count 58
PubMed Score 280.14
PubTator Score 354.36

Knowledge Summary

Patent

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TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Mucopolysaccharidosis VI 6 0.0 5.0
Disease Target Count Z-score Confidence
Mucosulfatidosis 5 4.617 2.3
Disease Target Count
Mucopolysaccharidosis type VI 1

Expression

  Differential Expression (5)

Disease log2 FC p
tuberculosis and treatment for 3 months 1.400 3.8e-05
active Crohn's disease 1.433 1.7e-02
group 4 medulloblastoma 1.100 4.0e-03
non primary Sjogren syndrome sicca -1.400 2.8e-02
ovarian cancer -1.200 2.6e-05

Synonym

Accession P15848 B2RC20 Q8N322 Q9UDI9 ASB
Symbols ASB
G4S
MPS6

Gene

ARSB

PANTHER Protein Class (1)

PDB

1FSU  

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

 UniProt Keyword (18)

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 GO Function (3)

 GO Component (8)

 GO Process (14)

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 Compartment GO Term (34)

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 OMIM Phenotype (1)

 MGI Phenotype (17)

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 GWAS Trait (4)

 HCA RNA Cell Line (56)

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Pathway (20)

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Protein-protein Interaction (3)

IDS   HYAL1   SUMF1  

Gene RIF (30)

PMID Text
26609033 Nine novel mutations of ARSB were identified in MPS VI cases from India in the present study. The study also provides some insights into the genotype-phenotype association in MPS VI
25511584 Silencing Wnt9A increased the expression of CHST11 in the colonic epithelial cells, and chromatin immunoprecipitation assay demonstrated enhancing effects of Wnt9A siRNA and exogenous BMP4 on the CHST11 promoter
24778176 These studies reveal how carrageenan exposure can lead to transcriptional events in colonic epithelial cells through decline in arylsulfatase B activity, with subsequent impact on C4S, galectin-3, Sp1, and Wnt9A
24677745 Mutation analysis of the ARSB gene revealed seven missense and three frameshift mutations of which eight were novel.
24240681 Arylsulfatase B regulates versican expression by galectin-3 and AP-1 mediated transcriptional effects.
23855929 novel homozygous missense mutation, c.278 C>T, p.P93L, associated with mucopolysaccharidosis type VI
23835622 ARSB activity was significantly higher in the normal tissues.
23520469 results indicate that mammalian ARSB improves functional recovery after CNS injury.
23023219 Sequencing analysis revealed a novel homozygous missense mutation in the ARSB gene at c.1457A
22971959 PTC124 but not gentamicin, increases the level of ARSB activity.
22550062 Arylsulfatase B activity was significantly less in the polymorphonuclear leukocytes and mononuclear cells from the cystic fibrosis patients than controls.
22428001 Hypoxia reduces arylsulfatase B activity and silencing arylsulfatase B replicates and mediates the effects of hypoxia.
22079206 investigation of substrate specificity of arylsulfatase B in colonic epithelial cells; competitive binding of complex polysaccharides/glycosaminoglycans with arylsulfatase B can affect generation of reactive oxygen species and inflammatory response
21996138 13 mucopolysaccharidosis type VI patients were found to be homozygous for the previously undescribed H178L ARSB mutation
21378286 Altered ARSB immunostaining and reduced activity may be useful indicators of malignant transformation in human colonic tissue.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19346317 IL-8 increases in bronchial epithelial cells after arylsulfatase B silencing due to sequestration with chondroitin-4-sulfate
19306108 Arylsulfatase B regulates colonic epithelial cell migration by effects on MMP9 expression and RhoA activation.
18486607 arylsulfatase B gene mutation profile in Taiwanese MPS VI patients may be different from MPS VI patients from other countries[mucopolysaccharidosis type VI ]
18406185 All the ARSB mutations studied had a significant effect on enzyme activity, protein processing and/or mRNA stability.
18299243 Reduced activity of arylsulfatase B enzymatic activity in children with cystic fibrosis
18285341 modification of expression of the lysosomal sulfatases ASB and GALNS regulates the content of CSs.
17643332 Novel mutations in arylsulfatase B is associated with mucopolysaccharidosis VI
17458871 The identification of many novel mutations unique to individuals/their families highlighted the genetic heterogeneity of the mucopolysaccharidosis VI disorder.
17324393 Decreased arylsulfatase B activity is associated with cystic fibrosis
16435196 analysis of novel mutations on the arylsulphatase B gene in South American Mucopolysaccharidosis type VI patients
14974081 Seven novel mutation were identified in ARSB in mucopolysaccharidosis type VI patients undergoing a Clinical trial of enzyme replacement therapy, 3 of these mutations resulted in truncated proteins.
11668612 Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase

AA Sequence 

MGPRGAASLPRGPGPRRLLLPVVLPLLLLLLLAPPGSGAGASRPPHLVFLLADDLGWNDVGFHGSRIRTP      1 - 70
HLDALAAGGVLLDNYYTQPLCTPSRSQLLTGRYQIRTGLQHQIIWPCQPSCVPLDEKLLPQLLKEAGYTT     71 - 140
HMVGKWHLGMYRKECLPTRRGFDTYFGYLLGSEDYYSHERCTLIDALNVTRCALDFRDGEEVATGYKNMY    141 - 210
STNIFTKRAIALITNHPPEKPLFLYLALQSVHEPLQVPEEYLKPYDFIQDKNRHHYAGMVSLMDEAVGNV    211 - 280
TAALKSSGLWNNTVFIFSTDNGGQTLAGGNNWPLRGRKWSLWEGGVRGVGFVASPLLKQKGVKNRELIHI    281 - 350
SDWLPTLVKLARGHTNGTKPLDGFDVWKTISEGSPSPRIELLHNIDPNFVDSSPCPRNSMAPAKDDSSLP    351 - 420
EYSAFNTSVHAAIRHGNWKLLTGYPGCGYWFPPPSQYNVSEIPSSDPPTKTLWLFDIDRDPEERHDLSRE    421 - 490
YPHIVTKLLSRLQFYHKHSVPVYFPAQDPRCDPKATGVWGPWM                               491 - 533
//

Text Mined References (65)

PMID Year Title
26609033 2015 Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25511584 2015 Regulation of chondroitin-4-sulfotransferase (CHST11) expression by opposing effects of arylsulfatase B on BMP4 and Wnt9A.
25343990 2015 Genome-wide association study of selenium concentrations.
24778176 2014 Increased expression of colonic Wnt9A through Sp1-mediated transcriptional effects involving arylsulfatase B, chondroitin 4-sulfate, and galectin-3.
24677745 2014 Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations.
24240681 2014 Arylsulfatase B regulates versican expression by galectin-3 and AP-1 mediated transcriptional effects.
23855929 2013 Case of a Mongolian child with extensive Mongolian spots in mucopolysaccharidosis type VI: identification of a novel mutation in the arylsulfatase B gene.
23835622 2013 Arylsulfatase B (N-acetylgalactosamine-4-sulfatase): potential role as a biomarker in prostate cancer.
23728934 2013 Polygenic transmission and complex neuro developmental network for attention deficit hyperactivity disorder: genome-wide association study of both common and rare variants.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23520469 2013 Arylsulfatase B improves locomotor function after mouse spinal cord injury.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23023219 2012 Identification of a novel arylsulfatase B gene mutation in three unrelated Iranian mucopolysaccharidosis type-VI patients with different phenotype severity.
22971959 2013 Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI.
22550062 2013 Reduced Arylsulfatase B activity in leukocytes from cystic fibrosis patients.
22428001 2012 Hypoxia reduces arylsulfatase B activity and silencing arylsulfatase B replicates and mediates the effects of hypoxia.
22079206 2012 Molecular signature of kappa-carrageenan mimics chondroitin-4-sulfate and dermatan sulfate and enables interaction with arylsulfatase B.
21996138 2011 Genetic studies in a cluster of mucopolysaccharidosis type VI patients in Northeast Brazil.
21378286 2011 Extra-lysosomal localization of arylsulfatase B in human colonic epithelium.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19668339 2009 Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.
19346317 2010 Cell-bound IL-8 increases in bronchial epithelial cells after arylsulfatase B silencing due to sequestration with chondroitin-4-sulfate.
19306108 2009 Arylsulfatase B regulates colonic epithelial cell migration by effects on MMP9 expression and RhoA activation.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
19084217 2009 Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.
18486607 2008 Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients.
18406185 2008 Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene.
18299243 2008 In vivo specific reduction of arylsulfatase B enzymatic activity in children with cystic fibrosis.
18285341 2008 Distinct effects of N-acetylgalactosamine-4-sulfatase and galactose-6-sulfatase expression on chondroitin sulfates.
17643332 Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations.
17458871 2007 Mutational analysis of 105 mucopolysaccharidosis type VI patients.
17324393 2007 Increased arylsulfatase B activity in cystic fibrosis cells following correction of CFTR.
16435196 2005 Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15372022 2004 The DNA sequence and comparative analysis of human chromosome 5.
15146462 2004 Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.
14974081 2004 Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11802522 2001 Mucopolysaccharidosis type VI: Report of two Taiwanese patients and identification of one novel mutation.
10738004 2000 A novel mutation (Q239R) identified in a Taiwan Chinese patient with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome).
10206678 1998 Two novel mutations of the arylsulfatase B gene in two Italian patients with severe form of mucopolysaccharidosis. Mutations in brief no. 127. Online.
10036316 1999 Maroteaux-lamy syndrome: five novel mutations and their structural localization.
9582121 1998 Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome.
9032078 1997 Structure of a human lysosomal sulfatase.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8723688 1996 Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndrome.
8651289 1996 Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients.
8541342 1995 N-acetylgalactosamine-4-sulfatase: identification of four new mutations within the conserved sulfatase region causing mucopolysaccharidosis type VI.
8125475 1994 Four novel mutant alleles of the arylsulfatase B gene in two patients with intermediate form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
8116615 1994 Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes.
7687847 1993 Structure of the human arylsulfatase B gene.
7628016 1995 A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency.
6767391 1980 Ultrastructures of Reilly bodies (metachromatic granules) in the Maroteaux-Lamy syndrome (mucopolysaccharidosis VI). A histochemical study.
4215420 1974 Maroteaux-Lamy disease (mucopolysaccharidosis VI), subtype A: deficiency of a N-acetylgalactosamine-4-sulfatase.
2303452 1990 Phylogenetic conservation of arylsulfatases. cDNA cloning and expression of human arylsulfatase B.
1968043 1990 Human arylsulfatase B: MOPAC cloning, nucleotide sequence of a full-length cDNA, and regions of amino acid identity with arylsulfatases A and C.
1930244 1991 Human N-acetylgalactosamine-4-sulphatase: protein maturation and isolation of genomic clones.
1718978 1991 Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B.
1550123 1992 Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity.
1390929 1992 Components and proteolytic processing sites of arylsulfatase B from human placenta.
1301949 1992 An N-acetylgalactosamine-4-sulfatase mutation (delta G238) results in a severe Maroteaux-Lamy phenotype.