ADGRE1 (Adhesion G Protein-Coupled Receptor E1)
Gene encoding EMR1, a member of the adhesion GPCR family involved in immune cell regulation and expressed on eosinophils and macrophages.
Gene Information Card
| Symbol | ADGRE1 |
|---|---|
| Full Name | Adhesion G Protein-Coupled Receptor E1 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 2015 ncbi.nlm.nih.gov/gene/2015 |
| Ensembl ID | ENSG00000104853 |
| UniProt ID | Q14246 |
| OMIM ID | 600493 |
| HGNC ID | 3350 |
| Aliases | EMR1, EGF-like module containing mucin-like hormone receptor-like 1 |
Description
ADGRE1 (Adhesion G Protein-Coupled Receptor E1), also known as EMR1, encodes a member of the adhesion G protein-coupled receptor (GPCR) family. The protein contains multiple EGF-like domains and a mucin-like stalk, and is primarily expressed on eosinophils and subsets of macrophages. It functions in cell adhesion, migration, and immune surveillance. Mutations and altered expression have been implicated in inflammatory disorders and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Eosinophilic esophagitis | ADGRE1 expression on eosinophils may contribute to tissue infiltration and inflammation | ClinVar, PMID: 25683116 |
| Asthma | Elevated ADGRE1 levels on eosinophils correlate with airway inflammation | NCBI Gene, PMID: 20860570 |
| Colorectal cancer | ADGRE1 expression in tumor-associated macrophages may influence tumor progression | COSMIC, PMID: 28991257 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 0.8 | Low |
| Spleen | 1.2 | Low |
| Blood | 3.5 | Medium |
| Bone marrow | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Eosinophils (primary) | 12.5 | High expression |
| Macrophages (M2 polarized) | 8.3 | Moderate expression |
| THP-1 (monocytic) | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.01% | Altered ligand binding |
| c.56_57insA (p.Leu19fs) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Leu19fs) lead to truncated protein and loss of receptor activity.
Gain of Function (GOF)
Not reported in curated databases.
Dominant Negative (DN)
Not reported in curated databases.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • cell adhesion |
| • immune response | • plasma membrane |
| • signal transduction |
Pathways
• GPCR signaling (R-HSA-372790)
• Adhesion GPCR signaling (R-HSA-500792)
Protein Summary
ADGRE1 (EMR1) is a 886-amino acid adhesion GPCR with a large extracellular region containing EGF-like domains and a mucin-like stalk. It is expressed on eosinophils and macrophages, mediating cell adhesion and migration. The receptor couples to G proteins and modulates immune cell activation. Alternative splicing generates multiple isoforms.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADGRE1 Knockout HEK293 Cell Line | EDJ-KQ2083 | Human | 2015 | Details Get a Quote |
| ADGRE1 Knockout A-549 Cell Line | EDJ-KQ22174 | Human | 2015 | Details Get a Quote |
| ADGRE1 Knockout HeLa Cell Line | EDJ-KQ53156 | Human | 2015 | Details Get a Quote |
| ADGRE1 Knockout HCT 116 Cell Line | EDJ-KQ70116 | Human | 2015 | Details Get a Quote |
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