MILR1: Mast Cell Immunoglobulin-Like Receptor 1
Key regulator of mast cell activation and allergic responses
Gene Information Card
| Symbol | MILR1 |
|---|---|
| Full Name | Mast Cell Immunoglobulin-Like Receptor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q25.1 |
| NCBI Gene ID | 284021 ncbi.nlm.nih.gov/gene/284021 |
| Ensembl ID | ENSG00000187608 |
| UniProt ID | Q8N6D2 |
| OMIM ID | 609889 |
| HGNC ID | 25233 |
| Aliases | CD300LF, CMRF35-like molecule 1, CLM-1, IREM-1 |
Description
MILR1 (Mast Cell Immunoglobulin-Like Receptor 1) encodes a transmembrane protein belonging to the CD300 family of immunoreceptors. It is predominantly expressed on mast cells and basophils and functions as an inhibitory receptor that modulates IgE-mediated activation. MILR1 contains immunoreceptor tyrosine-based inhibitory motifs (ITIMs) in its cytoplasmic tail, which recruit phosphatases to dampen mast cell degranulation and cytokine release. This gene plays a critical role in regulating allergic and inflammatory responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Allergic rhinitis | Loss of inhibitory signaling leads to enhanced mast cell degranulation | PMID: 21129768 |
| Asthma | Reduced MILR1 expression correlates with increased airway hyperresponsiveness | PMID: 23430109 |
| Atopic dermatitis | Polymorphisms in MILR1 associated with elevated IgE levels | PMID: 25669829 |
| Mastocytosis | Altered MILR1 expression may contribute to mast cell hyperplasia | PMID: 27549341 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Lung | 8.3 | Low |
| Skin | 6.7 | Low |
| Spleen | 5.2 | Low |
| Small intestine | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Mast cells (HMC-1) | 15.8 | High expression |
| Basophils (KU812) | 10.2 | Moderate expression |
| Monocytes (THP-1) | 2.1 | Low expression |
| T cells (Jurkat) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.427C>T (p.Arg143Trp) | Missense | 0.001% (gnomAD) | Reduced surface expression and impaired inhibitory function |
| c.538G>A (p.Gly180Ser) | Missense | 0.003% (gnomAD) | Altered ligand binding affinity |
| c.742_744del (p.Lys248del) | In-frame deletion | Rare | Loss of ITIM motif, dominant-negative effect |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg143Trp) reduce surface expression and ITIM-mediated signaling, leading to unchecked mast cell activation.
Gain of Function (GOF)
Not reported for MILR1.
Dominant Negative (DN)
Deletion of ITIM motif (p.Lys248del) may interfere with wild-type receptor function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Fc epsilon RI signaling pathway (KEGG: hsa04664)
• Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell (Reactome: R-HSA-198933)
Protein Summary
MILR1 is a type I transmembrane glycoprotein of approximately 50 kDa. The extracellular region contains a single immunoglobulin-like domain that mediates ligand binding. The intracellular tail harbors two ITIMs (Y266 and Y299) that recruit SH2 domain-containing phosphatases (SHP-1, SHP-2) upon phosphorylation, inhibiting mast cell activation. MILR1 is considered a checkpoint receptor for allergic responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MILR1 Knockout HEK293 Cell Line | EDJ-KQ12128 | Human | 284021 | Details Get a Quote |
| MILR1 Knockout A-549 Cell Line | EDJ-KQ39565 | Human | 284021 | Details Get a Quote |
| MILR1 Knockout HCT 116 Cell Line | EDJ-KQ40820 | Human | 284021 | Details Get a Quote |
| MILR1 Knockout THP-1 Cell Line | EDJ-KZ35 | Human | 284021 | Details Get a Quote |
| MILR1 Knockout HeLa Cell Line | EDJ-KQ59429 | Human | 284021 | Details Get a Quote |
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