MAN1B1 Gene Summary [Human]
This gene encodes an enzyme belonging to the glycosyl hydrolase 47 family. This enzyme functions in N-glycan biosynthesis, and is a class I alpha-1,2-mannosidase that specifically converts Man9GlcNAc to Man8GlcNAc isomer B. It is required for N-glycan trimming to Man5-6GlcNAc2 in the endoplasmic-reticulum-associated degradation pathway. Mutations in this gene cause autosomal-recessive intellectual disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Dec 2011]
Details
| Type | Protein Coding |
| Official Symbol | MAN1B1 |
| Official Name | mannosidase alpha class 1B member 1 [Source:HGNC Symbol;Acc:HGNC:6823] |
| Ensembl ID | ENSG00000177239 |
| Bio databases IDs | |
| Aliases | mannosidase alpha class 1B member 1, endoplasmic reticulum alpha-mannosidase 1, alpha 1,2-mannosidase, endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1, ER alpha 1,2-mannosidase, Man9GlcNAc2-specific processing alpha-mannosidase, endoplasmic Reticulum Class I alpha-mannosidase |
| Synonyms | E430019H13Rik, ERMAN1, ER MANI, Gm108, Image:3498155, LOC124906816, LOC227619, MANA-ER, mannosidase alpha class 1B member 1, mannosidase, alpha, class 1B, member 1, mannosidase α class 1B member 1, mannosidase, α, class 1B, member 1, MRT15, RGD1563595 |
| 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 MAN1B1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Glycosyl hydrolase family 47
- mannosyl-oligosaccharide 1,2-alpha-mannosidase
- catalytic domain
- calcium ion binding
- Cyclases involved in the biosynthesis of lantibiotics, and similar proteins
- enzyme
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal recessive mental retardation type 15
- insulin-dependent diabetes mellitus
- hereditary disorder
- congenital disorder of glycosylation type 2 due to MAN1B1 deficiency
- coronary aneurysm
role in cell
- retention in
- endoplasmic reticulum-associated degradation 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
- cellular membrane
- Golgi Apparatus
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
- cytoplasmic vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MAN1B1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- viral protein processing
- protein glycosylation
- mannoprotein catabolic process
- oligosaccharide metabolic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- membrane
- endoplasmic reticulum quality control compartment
- cytoplasmic vesicle
- Golgi apparatus
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- calcium ion binding
- mannosyl-oligosaccharide 1,2-alpha-mannosidase activity