Homo sapiens Gene: ARSB
Summary
InnateDB Gene IDBG-30686.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ARSB
Gene Name arylsulfatase B
Synonyms ASB; G4S; MPS6;
Species Homo sapiens
Ensembl Gene ENSG00000113273
Encoded Proteins
arylsulfatase B
arylsulfatase B
arylsulfatase B
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:78777209-78986087
Strand Reverse strand
Band q14.1
Transcripts
ENST00000264914 ENSP00000264914
ENST00000396151 ENSP00000379455
ENST00000521011
ENST00000521800
ENST00000521117 ENSP00000428611
ENST00000565165 ENSP00000456339
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0003943 N-acetylgalactosamine-4-sulfatase activity
GO:0004065 arylsulfatase activity
GO:0008484 sulfuric ester hydrolase activity
GO:0046872 metal ion binding
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0006665 sphingolipid metabolic process
GO:0006687 glycosphingolipid metabolic process
GO:0006914 autophagy
GO:0007040 lysosome organization
GO:0007041 lysosomal transport
GO:0007417 central nervous system development
GO:0007584 response to nutrient
GO:0008152 metabolic process
GO:0009268 response to pH
GO:0030203 glycosaminoglycan metabolic process
GO:0030204 chondroitin sulfate metabolic process
GO:0030207 chondroitin sulfate catabolic process
GO:0043627 response to estrogen
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process
GO:0044281 small molecule metabolic process
GO:0051597 response to methylmercury
Cellular Component
GO:0005739 mitochondrion
GO:0005764 lysosome
GO:0005788 endoplasmic reticulum lumen
GO:0005791 rough endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0043202 lysosomal lumen
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Sphingolipid metabolism pathway
Metabolism of lipids and lipoproteins pathway
Mucopolysaccharidoses pathway
Post-translational protein modification pathway
Myoclonic epilepsy of Lafora pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Defective CHST6 causes MCDC1 pathway
CS/DS degradation pathway
MPS VI - Maroteaux-Lamy syndrome pathway
Defective PAPSS2 causes SEMD-PA pathway
Metabolism of carbohydrates pathway
MPS IIID - Sanfilippo syndrome D pathway
PTM: gamma carboxylation, hypusine formation and arylsulfatase activation pathway
Defective SLC26A2 causes chondrodysplasias pathway
MPS IX - Natowicz syndrome pathway
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
Metabolism of proteins pathway
Defective CHST14 causes EDS, musculocontractural type pathway
MPS IV - Morquio syndrome B pathway
The activation of arylsulfatases pathway
Defective B3GAT3 causes JDSSDHD pathway
Glycosphingolipid metabolism pathway
Defective CHST3 causes SEDCJD pathway
MPS IV - Morquio syndrome A pathway
Defective EXT2 causes exostoses 2 pathway
Diseases associated with glycosaminoglycan metabolism pathway
MPS II - Hunter syndrome pathway
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
Glycosaminoglycan metabolism pathway
Diseases of glycosylation pathway
Chondroitin sulfate/dermatan sulfate metabolism pathway
MPS VII - Sly syndrome pathway
Defective CHSY1 causes TPBS pathway
Metabolism pathway
MPS I - Hurler syndrome pathway
MPS IIIA - Sanfilippo syndrome A pathway
MPS IIIC - Sanfilippo syndrome C pathway
Disease pathway
Glycogen storage diseases pathway
MPS IIIB - Sanfilippo syndrome B pathway
KEGG
Glycosaminoglycan degradation pathway
Lysosome pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL E5RHC4
UniProt Splice Variant
Entrez Gene 411
UniGene Hs.149103 Hs.610205
RefSeq NM_000046 NM_198709 XM_005248506 XM_006714615
HUGO HGNC:714
OMIM 611542
CCDS CCDS4043 CCDS43334
HPRD 08358
IMGT
EMBL AC020937 AC025755 AC099485 AC114963
GenPept
RNA Seq Atlas 411