ARSB Gene Summary [Human]
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 targeted 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, Dec 2016]
Details
| Type | Protein Coding |
| Official Symbol | ARSB |
| Official Name | arylsulfatase B [Source:HGNC Symbol;Acc:HGNC:714] |
| Ensembl ID | ENSG00000113273 |
| Bio databases IDs | |
| Aliases | arylsulfatase B |
| Synonyms | 1110007C02RIK, 4-SULFATASE, 4-sulphATASE, arylsulfatase B, As-1, As-1r, As-1s, As-1t, ASB, Asr-1, Ast-1, G4S, MPS6 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ARSB often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- alkaline phosphatases and sulfatases
- sulfuric ester hydrolase
- Sulfatase
- enzyme
- N-acetylgalactosamine-4-sulfatase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hyperplasia
- mucopolysaccharidosis type VI
- severe mucopolysaccharidosis type VI
- attenuated mucopolysaccharidosis type VI
- hereditary disorder
- chronic lymphocytic leukemia
- deficiency of arylsulfatase A
- attention deficit hyperactivity disorder
- major depression
- abdominal aortic aneurysm
role in cell
- expression in
- accumulation in
- apoptosis
- activation in
- growth
- response
- quantity
- abnormal morphology
- development
- mitosis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- ficolin-1-rich granule lumen
- azurophil granule lumen
- cell surface
- Extracellular Space
- lysosome
- endoplasmic reticulum lumen
- lysosomal compartment
- secretory granules
- phagosomes
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ARSB gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lysosome organization
- response to methylmercury
- response to estrogen stimulus
- lysosomal transport
- autophagy
- regulation of epithelial cell migration
- response to pH
- response to nutrient
- positive regulation of neuron projection development
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- extracellular vesicular exosome
- lysosomal lumen
- extracellular region
- azurophil granule lumen
- cell surface
- lysosome
Molecular Function
What the gene product does at the molecular level
- N-acetylgalactosamine-4-sulfatase activity
- metal ion binding
- arylsulfatase activity