MAN2A1 Gene Summary [Human]
This gene encodes a glycosyl hydrolase that localizes to the Golgi and catalyzes the final hydrolytic step in the asparagine-linked oligosaccharide (N-glycan) maturation pathway. Mutations in the mouse homolog of this gene have been shown to cause a systemic autoimmune disease similar to human systemic lupus erythematosus. [provided by RefSeq, Dec 2013]
Details
| Type | Protein Coding |
| Official Symbol | MAN2A1 |
| Official Name | mannosidase alpha class 2A member 1 [Source:HGNC Symbol;Acc:HGNC:6824] |
| Ensembl ID | ENSG00000112893 |
| Bio databases IDs | |
| Aliases | mannosidase alpha class 2A member 1, golgi integral membrane protein 7 |
| Synonyms | Alpha-mannosidase II, alpha MII, AMan II, GOLIM7, LOC101927004, MANA2, MANII, Manno, mannosidase 2, alpha 1, mannosidase 2, α 1, mannosidase alpha class 2A member 1, mannosidase, alpha, class 2A, member 1, mannosidase α class 2A member 1, mannosidase, α, class 2A, member 1, Map-2, α Man2, α-mannosidase II, α MII |
| 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 MAN2A1 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
- GH38-57_N_LamB_YdjC_SF
- Alpha mannosidase, middle domain
- Glycosyl hydrolases family 38 C-terminal domain
- enzyme
- identical protein binding
- Alpha mannosidase middle domain
- Glycosyl hydrolases family 38 N-terminal domain
- mannosidase
- zinc ion binding
- N-glycosyl glycosylase
- protein homodimerization
- hydrolase
- mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- schizophrenia
- anemia
- anisocytosis
- diabetic retinopathy
- alopecia
- hematuria
- congenital dyserythropoietic anemia
- T-cell non-Hodgkin disease
- mature T-cell neoplasia
- respiratory failure
regulates
- histone
- IC
- IgG
- N-glycan
- IgM
- IgA
- immunoprotein
- Sm antigen
- Immunoglobulin
role in cell
- number
- apoptosis
- adhesion
- development
- organization
- quantity
- abnormal morphology
- translocation
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-insoluble fractions
- membrane fraction
- perinuclear Golgi regions
- Extracellular Space
- Plasma Membrane
- Golgi Apparatus
- Golgi membrane
- Golgi buds
- Golgi cisternae rim
- cis Golgi networks
- spine apparatus
- peri-Golgi vesicles
- Golgi cisternae
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MAN2A1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- vacuole organization
- N-glycan processing
- retina morphogenesis in camera-type eye
- mannose metabolic process
- protein glycosylation
- respiratory gaseous exchange
- mitochondrion organization
- lung alveolus development
- protein deglycosylation
- viral protein processing
- in utero embryonic development
- liver development
- positive regulation of neurogenesis
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cis-Golgi network
- membrane
- Golgi membrane
- Golgi medial cisterna
Molecular Function
What the gene product does at the molecular level
- hydrolase activity, hydrolyzing N-glycosyl compounds
- alpha-mannosidase activity
- protein homodimerization activity
- metal ion binding
- mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity
- carbohydrate binding