GLB1 Gene Summary [Human]
This gene encodes a member of the glycosyl hydrolase 35 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature lysosomal enzyme. This enzyme catalyzes the hydrolysis of a terminal beta-linked galactose residue from ganglioside substrates and other glycoconjugates. Mutations in this gene may result in GM1-gangliosidosis and Morquio B syndrome. [provided by RefSeq, Nov 2015]
Details
| Type | Protein Coding |
| Official Symbol | GLB1 |
| Official Name | galactosidase beta 1 [Source:HGNC Symbol;Acc:HGNC:4298] |
| Ensembl ID | ENSG00000170266 |
| Bio databases IDs | |
| Aliases | galactosidase beta 1, elastin binding protein |
| Synonyms | beta-GAL, Beta Galactosidase, Bge, Bgl, Bgl-e, Bgl-s, Bgl-t, Bgs, Bgt, C130097A14RIK, ELNR1, galactosidase beta 1, galactosidase, beta 1, galactosidase β 1, galactosidase, β 1, LOC105377022, MPS4B, SA-beta-GAL, Sa Beta galactosidase, SA-β-GAL, Sa β galactosidase, S-GAL, β-GAL, β-Galactosidase |
| 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 GLB1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Alpha amylase catalytic domain family
- protein homodimerization
- enzyme
- hydrolase
- protein binding
- beta-galactosidase
- galactoside binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- ataxia
- seizures
- GM1 gangliosidosis type 1
- GM1-gangliosidosis with cardiac involvement type I
- GM1 gangliosidosis type 2
- organismal death
- galactosylceramide beta-galactosidase deficiency
- allergy
- GM1 gangliosidosis
- asthma
role in cell
- molecular cleavage in
- quantity
- accumulation in
- assembly
- destruction
- priming
- morphology
- assembly in
- abnormal morphology
- transport
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
- intracellular membrane-bounded organelle
- ficolin-1-rich granule lumen
- azurophil granule lumen
- cell surface
- Extracellular Space
- perinuclear region
- lysosome
- Golgi Apparatus
- cytosol
- lysosomal compartment
- peripheral vesicles
- plasma
- late endosomal fractions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GLB1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- carbohydrate metabolic process
- keratan sulfate catabolic process
- galactose catabolic process
- glycosphingolipid catabolic process
- heparan sulfate proteoglycan catabolic process
- response to cortisone stimulus
Cellular Component
Where in the cell the gene product is active
- perinuclear region of cytoplasm
- extracellular vesicular exosome
- cytoplasm
- intracellular membrane-bounded organelle
- Golgi apparatus
- lysosomal lumen
- extracellular region
- vacuole
- azurophil granule lumen
Molecular Function
What the gene product does at the molecular level
- protein binding
- protein homodimerization activity
- galactoside binding
- beta-galactosidase activity