CX3CR1
C-X3-C Motif Chemokine Receptor 1
Gene Information Card
| Symbol | CX3CR1 |
|---|---|
| Full Name | C-X3-C Motif Chemokine Receptor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p22.2 |
| NCBI Gene ID | 1524 ncbi.nlm.nih.gov/gene/1524 |
| Ensembl ID | ENSG00000168329 |
| UniProt ID | P49238 |
| OMIM ID | 601470 |
| HGNC ID | 2558 |
| Aliases | CMKBRL1, GPR13, V28 |
Description
CX3CR1 encodes a seven-transmembrane G protein-coupled receptor for the chemokine fractalkine (CX3CL1). It mediates adhesion and migration of leukocytes, plays roles in immune surveillance, neuroinflammation, and atherosclerosis, and serves as a coreceptor for HIV-1 entry.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Atherosclerosis | CX3CR1 variants (e.g., T280M) reduce fractalkine binding, altering monocyte adhesion and plaque formation | PMID: 12511656; ClinVar |
| HIV-1 infection | Acts as an alternative coreceptor for HIV-1 entry into CD4+ T cells | PMID: 9384498; NCBI Gene |
| Age-related macular degeneration | CX3CR1 deficiency impairs microglial clearance of drusen, promoting retinal degeneration | PMID: 17962412; OMIM |
| Neuroinflammation (multiple sclerosis) | CX3CR1 signaling regulates microglial activation and neurotoxicity | PMID: 20573919; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 5.2 | Medium |
| Lung | 4.8 | Medium |
| Blood | 6.1 | Medium |
| Brain | 3.5 | Low |
| Heart | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 8.3 | High expression |
| Jurkat (T cell) | 4.1 | Medium expression |
| U937 (macrophage) | 7.0 | High expression |
| HEK293 | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| T280M (rs3732379) | Missense | ~25% in Europeans | Reduced fractalkine binding; associated with atherosclerosis risk |
| V249I (rs3732378) | Missense | ~30% in Europeans | Altered receptor function; linked to AMD and HIV progression |
| R30X | Nonsense | Rare | Loss of function; impaired immune cell migration |
Mutation functional classification
Loss of Function (LOF)
R30X nonsense mutation leads to truncated nonfunctional receptor.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported.
Dominant Negative (DN)
Not described for CX3CR1.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • C-X3-C chemokine receptor activity |
| • chemokine binding | • cell adhesion |
| • positive regulation of cytosolic calcium ion concentration | • inflammatory response |
Pathways
• Chemokine signaling pathway (KEGG: hsa04062)
• Neuroactive ligand-receptor interaction (KEGG: hsa04080)
• CX3CR1-CX3CL1 signaling in microglia
Protein Summary
CX3CR1 is a 355-amino-acid integral membrane protein with seven transmembrane domains. It binds specifically to the chemokine CX3CL1 (fractalkine), mediating both chemotaxis and cell adhesion. The receptor is expressed on monocytes, natural killer cells, T cells, and microglia. Signaling through G proteins activates MAPK and PI3K pathways, regulating cell survival, migration, and cytokine production.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CX3CR1 Knockout HEK293 Cell Line | EDJ-KQ3859 | Human | 1524 | Details Get a Quote |
| CX3CR1 Knockout HeLa Cell Line | EDJ-KQ53033 | Human | 1524 | Details Get a Quote |
| CX3CR1 Knockout A-549 Cell Line | EDJ-KQ61497 | Human | 1524 | Details Get a Quote |
| CX3CR1 Knockout HCT 116 Cell Line | EDJ-KQ69993 | Human | 1524 | Details Get a Quote |
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