CX3CL1
C-X3-C Motif Chemokine Ligand 1 (Fractalkine)
Gene Information Card
| Symbol | CX3CL1 |
|---|---|
| Full Name | C-X3-C Motif Chemokine Ligand 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 16q13 |
| NCBI Gene ID | 6376 ncbi.nlm.nih.gov/gene/6376 |
| Ensembl ID | ENSG00000006210 |
| UniProt ID | P78423 |
| OMIM ID | 601880 |
| HGNC ID | 10647 |
| Aliases | fractalkine, neurotactin, ABCD-3, C3Xkine, SCYD1 |
Description
CX3CL1 (fractalkine) is a unique member of the chemokine family that exists in both a membrane-bound form (acting as an adhesion molecule) and a soluble form (acting as a chemoattractant). It binds exclusively to the receptor CX3CR1. CX3CL1 is highly expressed in the brain, particularly by neurons, and plays critical roles in neuroinflammation, microglial activation, and immune surveillance. It is also involved in cardiovascular, renal, and cancer biology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Atherosclerosis | CX3CL1 promotes monocyte adhesion and infiltration into arterial walls via CX3CR1, driving plaque formation. | ClinVar, NCBI Gene |
| Rheumatoid Arthritis | Elevated soluble CX3CL1 recruits CX3CR1+ T cells and monocytes to synovial tissue, contributing to joint inflammation. | NCBI Gene, OMIM |
| HIV-Associated Neurocognitive Disorders | CX3CL1-CX3CR1 signaling modulates neuronal survival and microglial activation in the CNS. | NCBI Gene |
| Alzheimer Disease | Altered CX3CL1 expression influences microglial-mediated neuroinflammation and amyloid-beta clearance. | NCBI Gene, OMIM |
| Cancer (various) | CX3CL1 can have tumor-suppressive or tumor-promoting effects depending on context; it modulates immune cell trafficking into tumors. | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Heart | 4.2 | Medium |
| Lung | 3.8 | Medium |
| Kidney | 6.1 | Medium |
| Liver | 1.0 | Low |
| Spleen | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.0 | High expression; used as neuronal model |
| THP-1 (monocyte) | 8.5 | Moderate expression; inducible by inflammatory stimuli |
| HEK293 (embryonic kidney) | 2.0 | Low baseline expression |
| HUVEC (endothelial) | 6.0 | Expressed on activated endothelium |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.401C>T (p.Thr134Met) | missense | 0.001% (gnomAD) | Unknown functional impact; rare variant |
| c.679G>A (p.Val227Ile) | missense | 0.002% (gnomAD) | Located in chemokine domain; potential altered receptor binding |
| c.1-?_*_del | whole gene deletion | Very rare | Loss of function; associated with immune dysregulation |
Mutation functional classification
Loss of Function (LOF)
Whole gene deletions or truncating mutations that abolish protein expression or secretion lead to impaired leukocyte adhesion and chemotaxis.
Gain of Function (GOF)
Not well documented; no confirmed gain-of-function mutations reported in literature.
Dominant Negative (DN)
No dominant-negative mutations described for CX3CL1.
View complete mutation data：
Gene Ontology (GO)
| • chemokine activity | • CXCR3 chemokine receptor binding |
| • cell adhesion | • positive regulation of leukocyte chemotaxis |
| • inflammatory response | • signal transduction |
| • cell-cell signaling |
Pathways
• Chemokine signaling pathway (KEGG: hsa04062)
• Cytokine-cytokine receptor interaction (KEGG: hsa04060)
• Neuroinflammation and microglial activation (Reactome: R-HSA-6798695)
Protein Summary
CX3CL1 (fractalkine) is a 373-amino-acid transmembrane protein with an N-terminal chemokine domain, a mucin-like stalk, a transmembrane domain, and a short cytoplasmic tail. The soluble form is generated by proteolytic cleavage (ADAM10/ADAM17). The chemokine domain binds CX3CR1 with high affinity. The protein is heavily glycosylated and functions both as an adhesion molecule (membrane-bound) and as a chemoattractant (soluble).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CX3CL1 Knockout HEK293 Cell Line | EDJ-KQ984 | Human | 6376 | Details Get a Quote |
| CX3CL1 Knockout HeLa Cell Line | EDJ-KQ54435 | Human | 6376 | Details Get a Quote |
| CX3CL1 Knockout A-549 Cell Line | EDJ-KQ62923 | Human | 6376 | Details Get a Quote |
| CX3CL1 Knockout HCT 116 Cell Line | EDJ-KQ71393 | Human | 6376 | Details Get a Quote |
