EDEM3: ER Degradation Enhancing Alpha-Mannosidase Like Protein 3
Key regulator of ER-associated degradation (ERAD) and glycoprotein quality control
Gene Information Card
| Symbol | EDEM3 |
|---|---|
| Full Name | ER degradation enhancing alpha-mannosidase like protein 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q25.3 |
| NCBI Gene ID | 80267 ncbi.nlm.nih.gov/gene/80267 |
| Ensembl ID | ENSG00000116489 |
| UniProt ID | Q9BQ22 |
| OMIM ID | 610227 |
| HGNC ID | 16787 |
| Aliases | C1orf22, FLJ10769, MGC117188 |
Description
EDEM3 encodes a member of the glycosyl hydrolase 47 family, localized to the endoplasmic reticulum (ER). The protein accelerates ER-associated degradation (ERAD) by trimming mannose residues from misfolded glycoproteins, targeting them for retrotranslocation and proteasomal degradation. It plays a critical role in the unfolded protein response (UPR) and glycoprotein quality control.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation type II (CDG-II) | Loss-of-function mutations impair ERAD of misfolded glycoproteins, leading to accumulation and cellular stress. | ClinVar, OMIM |
| Non-small cell lung cancer | Overexpression may promote tumor survival by enhancing ERAD and reducing ER stress. | COSMIC, PubMed |
| Hepatocellular carcinoma | Altered EDEM3 expression linked to dysregulated glycoprotein turnover and UPR activation. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Pancreas | 9.8 | Medium |
| Kidney | 8.3 | Medium |
| Testis | 7.1 | Low |
| Brain | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.3 | Hepatocellular carcinoma cell line |
| A549 | 11.0 | Lung adenocarcinoma cell line |
| HEK293 | 9.5 | Embryonic kidney cell line |
| MCF7 | 6.8 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1285C>T (p.Arg429*) | Nonsense | <0.01% | Loss of function; truncated protein |
| c.1672G>A (p.Gly558Arg) | Missense | <0.01% | Impaired mannosidase activity |
| c.2143_2144insA (p.Thr715Asnfs*12) | Frameshift | <0.01% | Loss of function; premature stop |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or unstable protein, reducing ERAD efficiency and causing glycoprotein accumulation.
Gain of Function (GOF)
Not reported in curated databases.
Dominant Negative (DN)
Not reported in curated databases.
View complete mutation data：
Gene Ontology (GO)
| • ER-associated ubiquitin-dependent protein catabolic process | • calcium ion binding |
| • mannosyl-oligosaccharide 1 | • 2-alpha-mannosidase activity |
| • endoplasmic reticulum lumen | • protein N-linked glycosylation |
| • unfolded protein response |
Pathways
• ERAD pathway (Reactome R-HSA-9016234)
• Unfolded Protein Response (UPR) (Reactome R-HSA-381119)
Protein Summary
EDEM3 is a 931-amino acid type II transmembrane protein with a luminal mannosidase domain. It localizes to the ER and specifically cleaves alpha-1,2-mannose residues from Man9GlcNAc2 to Man8GlcNAc2, a key step in targeting misfolded glycoproteins for ERAD. The protein interacts with SEL1L and HRD1 to facilitate retrotranslocation. Its activity is essential for maintaining ER homeostasis and preventing proteotoxicity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EDEM3 Knockout HEK293 Cell Line | EDJ-KQ9507 | Human | 80267 | Details Get a Quote |
| EDEM3 Knockout A-549 Cell Line | EDJ-KQ36254 | Human | 80267 | Details Get a Quote |
| EDEM3 Knockout HCT 116 Cell Line | EDJ-KQ36255 | Human | 80267 | Details Get a Quote |
| EDEM3 Knockout HeLa Cell Line | EDJ-KQ36256 | Human | 80267 | Details Get a Quote |
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