Entity Details

Primary name ARSB_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP15848
EntryNameARSB_HUMAN
FullNameArylsulfatase B
TaxID9606
Evidenceevidence at protein level
Length533
SequenceStatuscomplete
DateCreated1990-04-01
DateModified2021-06-02

Ontological Relatives

GenesARSB

GO terms

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GOName
GO:0003943 N-acetylgalactosamine-4-sulfatase activity
GO:0004065 arylsulfatase activity
GO:0005576 extracellular region
GO:0005739 mitochondrion
GO:0005764 lysosome
GO:0005788 endoplasmic reticulum lumen
GO:0005791 rough endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0006914 autophagy
GO:0007040 lysosome organization
GO:0007041 lysosomal transport
GO:0007417 central nervous system development
GO:0007584 response to nutrient
GO:0009268 response to pH
GO:0009986 cell surface
GO:0010632 regulation of epithelial cell migration
GO:0010976 positive regulation of neuron projection development
GO:0030207 chondroitin sulfate catabolic process
GO:0035578 azurophil granule lumen
GO:0043202 lysosomal lumen
GO:0043312 neutrophil degranulation
GO:0043627 response to estrogen
GO:0046872 metal ion binding
GO:0051597 response to methylmercury
GO:0061580 colon epithelial cell migration
GO:0070062 extracellular exosome
GO:1904813 ficolin-1-rich granule lumen

Subcellular Location

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Subcellular Location
Cell surface
Lysosome

Domains

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DomainNameCategoryType
IPR000917 Sulfatase, N-terminalDomainDomain
IPR017850 Alkaline-phosphatase-like, core domain superfamilyFamilyHomologous superfamily
IPR024607 Sulfatase, conserved siteSiteConserved site

Diseases

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Disease IDSourceNameDescription
253200 OMIMMucopolysaccharidosis 6 (MPS6)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. The disease is caused by variants affecting the gene represented in this entry.
272200 OMIMMultiple sulfatase deficiency (MSD)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. 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.

Drugs

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DrugNameSourceType
DB09301 Chondroitin sulfateDrugbanksmall molecule

Interactions

0 interactions

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