GUSB Gene Summary [Human]
This gene encodes a hydrolase that degrades glycosaminoglycans, including heparan sulfate, dermatan sulfate, and chondroitin-4,6-sulfate. The enzyme forms a homotetramer that is localized to the lysosome. Mutations in this gene result in mucopolysaccharidosis type VII. Alternative splicing results in multiple transcript variants. There are many pseudogenes of this locus in the human genome.[provided by RefSeq, May 2014]
Details
| Type | Protein Coding |
| Official Symbol | GUSB |
| Official Name | glucuronidase beta [Source:HGNC Symbol;Acc:HGNC:4696] |
| Ensembl ID | ENSG00000169919 |
| Bio databases IDs | |
| Aliases | glucuronidase beta |
| Synonyms | Ac2-223, asd, BG, glucuronidase beta, glucuronidase, beta, Glucuronidase β, glucuronidase, β, Gur, Gus, Gus-r, Gus-s, Gus-t, Gus-u, Gut, MPS7, β Glucuronidase |
| 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 GUSB often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- beta-glucuronidase
- Glycosyl hydrolases family 2
- Glycosyl hydrolases family 2, sugar binding domain
- Beta galactosidase small chain
- protein domain specific binding
- enzyme
- receptor binding
- carbohydrate binding
- hydrolase
- Glycosyl hydrolases family 2, TIM barrel domain
- Glycosyl hydrolases
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- mucopolysaccharidosis type VII
- rubella
- androgenic alopecia
- osteoarthritis
- rheumatoid arthritis
- hearing loss
- alloxan-induced diabetic nephropathy
- idiopathic hydrops fetalis
- hereditary disorder
- mucopolysaccharidosis type VI
role in cell
- quantity
- binding in
- damage
- inhibition in
- exocytosis in
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
- lysosome fractions
- multivesicular domain
- intracellular membrane-bounded organelle
- ficolin-1-rich granule lumen
- azurophil granule lumen
- Extracellular Space
- lysosome
- Endoplasmic Reticulum
- granules
- lysosomal compartment
- cytotoxic granule
- azurophil granules
- phagosomes
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GUSB gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- glucuronoside catabolic process
- carbohydrate metabolic process
- chondroitin sulfate catabolic process
- heparan sulfate proteoglycan catabolic process
- hyaluronan catabolic process
- glycosaminoglycan catabolic process
Cellular Component
Where in the cell the gene product is active
- extracellular space
- extracellular vesicular exosome
- intracellular membrane-bounded organelle
- membrane
- lysosomal lumen
- extracellular region
- azurophil granule lumen
Molecular Function
What the gene product does at the molecular level
- protein domain specific binding
- carbohydrate binding
- receptor binding
- beta-glucuronidase activity