MANBA Gene Summary [Human]
This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | MANBA |
| Official Name | mannosidase beta [Source:HGNC Symbol;Acc:HGNC:6831] |
| Ensembl ID | ENSG00000109323 |
| Bio databases IDs | |
| Aliases | mannosidase beta, beta-mannosidase A |
| Synonyms | 2410030O07Rik, B930014J03Rik, Beta-mannosidase, BMAN, Bmn, MANB1, mannosidase beta, mannosidase, beta A, lysosomal, mannosidase β, mannosidase, β A, lysosomal, β-mannosidase |
| 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 MANBA 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-mannosidase
- Glycosyl hydrolases family 2, sugar binding domain
- enzyme
- hydrolase
- Mannosidase Ig/CBM-like domain
- Ig-fold domain
- mannose binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- beta-mannosidosis
- headache
- primary biliary cirrhosis
- substance-related disorder
- asthma
- attention deficit hyperactivity disorder
- sarcoidosis
- systemic lupus erythematosus
- multiple sclerosis
- pervasive developmental disorder
regulates
- glycoprotein
- oligosaccharide
role in cell
- abnormal morphology
- function
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
- intracellular membrane-bounded organelle
- Extracellular Space
- Plasma Membrane
- lysosome
- secretory granule membrane
- lysosome membrane
- lysosomal compartment
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MANBA gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- glycoprotein catabolic process
- protein modification process
- oligosaccharide catabolic process
Cellular Component
Where in the cell the gene product is active
- lysosomal lumen
- azurophil granule membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- beta-mannosidase activity
- mannose binding