EDEM1
ER Degradation Enhancing Alpha-Mannosidase Like Protein 1
Gene Information Card
| Symbol | EDEM1 |
|---|---|
| Full Name | ER degradation enhancing alpha-mannosidase like protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p26.2 |
| NCBI Gene ID | 9695 ncbi.nlm.nih.gov/gene/9695 |
| Ensembl ID | ENSG00000134109 |
| UniProt ID | Q92611 |
| OMIM ID | 607673 |
| HGNC ID | 16767 |
| Aliases | EDEM, FLJ10867, MGC26305 |
Description
EDEM1 encodes an endoplasmic reticulum (ER) resident protein that recognizes and targets misfolded glycoproteins for ER-associated degradation (ERAD). It functions as a mannosidase-like lectin that trims mannose residues on N-glycans, facilitating the extraction of misfolded proteins from the calnexin/calreticulin cycle and promoting their retrotranslocation to the cytosol for proteasomal degradation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorders of glycosylation (CDG) | Impaired EDEM1 function disrupts glycoprotein quality control, leading to accumulation of misfolded glycoproteins in the ER. | PMID: 23541340 |
| Cancer (various types) | Altered EDEM1 expression affects ER stress response and tumor cell survival. | PMID: 25605274 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Pancreas | 10.8 | Medium |
| Kidney | 8.2 | Low |
| Testis | 7.5 | Low |
| Brain | 3.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HeLa | 9.8 | Cervical adenocarcinoma cell line |
| HEK293 | 7.4 | Embryonic kidney cell line |
| K562 | 4.1 | Chronic myelogenous leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Loss of start codon, likely loss of function |
| c.124C>T (p.Arg42Cys) | missense | <0.01% | Reduced mannosidase activity |
| c.1036G>A (p.Glu346Lys) | missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Mutations that abolish mannosidase activity or protein stability impair ERAD, leading to ER stress and potential cell death.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • endoplasmic reticulum (GO:0005783) | • mannosyl-oligosaccharide 1 (GO:0004571) |
| • protein quality control for misfolded or incompletely synthesized proteins (GO:0006515) | • ER-associated ubiquitin-dependent protein catabolic process (GO:0030433) |
| • oligosaccharide trimming (GO:0006490) |
Pathways
• ERAD pathway (Reactome: R-HSA-9013419)
• Calnexin/calreticulin cycle (Reactome: R-HSA-9013420)
Protein Summary
EDEM1 is a 657-amino acid type II transmembrane protein localized to the ER. It contains an N-terminal transmembrane domain, a mannosidase-like domain, and a C-terminal region that interacts with misfolded glycoproteins. The protein does not possess catalytic mannosidase activity but acts as a lectin that recognizes Man8GlcNAc2 structures, targeting substrates for ERAD.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EDEM1 Knockout HEK293 Cell Line | EDJ-KQ6695 | Human | 9695 | Details Get a Quote |
| EDEM1 Knockout A-549 Cell Line | EDJ-KQ31050 | Human | 9695 | Details Get a Quote |
| EDEM1 Knockout HCT 116 Cell Line | EDJ-KQ31051 | Human | 9695 | Details Get a Quote |
| EDEM1 Knockout HeLa Cell Line | EDJ-KQ31052 | Human | 9695 | Details Get a Quote |
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