EDEM3 Gene Summary [Human]
Quality control in the endoplasmic reticulum (ER) ensures that only properly folded proteins are retained in the cell through recognition and degradation of misfolded or unassembled proteins. EDEM3 belongs to a group of proteins that accelerate degradation of misfolded glycoproteins in the ER (Hirao et al., 2006 [PubMed 16431915]).[supplied by OMIM, Mar 2008]
Details
| Type | Protein Coding |
| Official Symbol | EDEM3 |
| Official Name | ER degradation enhancing alpha-mannosidase like protein 3 [Source:HGNC Symbol;Acc:HGNC:16787] |
| Ensembl ID | ENSG00000116406 |
| Bio databases IDs | |
| Aliases | ER degradation enhancing alpha-mannosidase like protein 3 |
| Synonyms | 2310050N11Rik, C1orf22, CDG2V, ER degradation enhancer, mannosidase alpha-like 3, ER degradation enhancer, mannosidase α-like 3, ER degradation enhancing alpha-mannosidase like protein 3, ER degradation enhancing α-mannosidase like protein 3, RGD1561496 |
| 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 EDEM3 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
- PA domain
- mannosyl-oligosaccharide 1,2-alpha-mannosidase
- PA
- 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
- schizophrenia
- Congenital disorder of glycosylation type 2v
- bronchiectasis
role in cell
- production in
- stabilization in
- degradation in
- ubiquitination 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
- Endoplasmic Reticulum
- endoplasmic reticulum lumen
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EDEM3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- carbohydrate metabolic process
- protein glycosylation
- mannoprotein catabolic process
- response to unfolded protein
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- membrane
- endoplasmic reticulum quality control compartment
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- calcium ion binding
- mannosyl-oligosaccharide 1,2-alpha-mannosidase activity