InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ARSB

Summary

InnateDB Protein

IDBP-238102.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ARSB

Protein Name

arylsulfatase B

Synonyms

ASB; G4S; MPS6;

Species

Homo sapiens

Ensembl Protein

ENSP00000379455

InnateDB Gene

IDBG-30686 (ARSB)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Lysosome.

Disease Associations

Mucopolysaccharidosis 6 (MPS6) [MIM:253200]: An autosomal recessive lysosomal storage disease characterized by intracellular accumulation of dermatan sulfate. Clinical features can include abnormal growth, short stature, stiff joints, skeletal malformations, corneal clouding, hepatosplenomegaly, and cardiac abnormalities. A wide variation in clinical severity is observed. {ECO:0000269PubMed:10036316, ECO:0000269PubMed:10738004, ECO:0000269PubMed:11802522, ECO:0000269PubMed:14974081, ECO:0000269PubMed:1550123, ECO:0000269PubMed:1718978, ECO:0000269PubMed:8116615, ECO:0000269PubMed:8125475, ECO:0000269PubMed:8541342, ECO:0000269PubMed:8651289}. Note=The disease is caused by mutations affecting the gene represented in this entry.Multiple sulfatase deficiency (MSD) [MIM:272200]: A clinically and biochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defective post- translational modification and activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay. {ECO:0000269PubMed:15146462}. Note=The protein represented in this entry is involved in disease pathogenesis. Arylsulfatase B activity is impaired in multiple sulfatase deficiency due to mutations in SUMF1. SUMF1 mutations result in defective post-translational modification of ARSB at residue Cys-91 that is not converted to 3-oxoalanine.

Tissue Specificity

Comments

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: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:0007040	lysosome organization
GO:0007041	lysosomal transport
GO:0008152	metabolic process
GO:0030203	glycosaminoglycan metabolic process
GO:0030204	chondroitin sulfate metabolic process
GO:0030207	chondroitin sulfate catabolic process
GO:0043687	post-translational protein modification
GO:0044267	cellular protein metabolic process
GO:0044281	small molecule metabolic process