MAN2B1 Gene Summary [Human]
This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
Details
| Type | Retained Intron |
| Official Symbol | MAN2B1 |
| Official Name | mannosidase alpha class 2B member 1 [Source:HGNC Symbol;Acc:HGNC:6826] |
| Ensembl ID | ENSG00000104774 |
| Bio databases IDs | |
| Aliases | mannosidase alpha class 2B member 1, lysosomal alpha-mannosidase |
| Synonyms | Acidic Mannosidase, LAMAN, LYSMAN, lysosomal α-mannosidase, MANB, mannosidase 2, alpha B1, mannosidase 2, α B1, mannosidase alpha class 2B member 1, mannosidase, alpha, class 2B, member 1, mannosidase α class 2B member 1, mannosidase, α, class 2B, member 1, MGC72561 |
| 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 MAN2B1 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 mannosidase middle domain
- Glycosyl hydrolases family 38 N-terminal domain
- alpha-mannosidase
- GH38-57_N_LamB_YdjC_SF
- Alpha mannosidase, middle domain
- Glycosyl hydrolases family 38 C-terminal domain
- enzyme
- 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
- alpha-mannosidosis
- hereditary disorder
- mental retardation
- Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
- global developmental delay
role in cell
- replication in
- abnormal morphology
- long-term potentiation
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
- detergent resistant lipid raft fraction
- intracellular membrane-bounded organelle
- azurophil granule lumen
- Extracellular Space
- lysosome
- lysosomal compartment
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MAN2B1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein modification process
- protein deglycosylation
- mannose metabolic process
- oligosaccharide catabolic process
- learning or memory
Cellular Component
Where in the cell the gene product is active
- extracellular space
- extracellular vesicular exosome
- intracellular membrane-bounded organelle
- lysosomal lumen
- extracellular region
- azurophil granule lumen
- nucleoplasm
- lysosome
Molecular Function
What the gene product does at the molecular level
- alpha-mannosidase activity
- metal ion binding
- carbohydrate binding