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CX3CR1

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Immunopharmacology Ligand  Target has curated data in GtoImmuPdb

Target id: 74

Nomenclature: CX3CR1

Family: Chemokine receptors

Gene and Protein Information Click here for help
class A G protein-coupled receptor
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human 7 355 3p22.2 CX3CR1 C-X3-C motif chemokine receptor 1 5,7,25
Mouse 7 354 9 F4 Cx3cr1 C-X3-C motif chemokine receptor 1 6
Rat 7 354 8q32 Cx3cr1 C-X3-C motif chemokine receptor 1 23
Previous and Unofficial Names Click here for help
CMKBRL1 [5,7] | Fractalkine receptor | GPR13 | V28 [14,25] | CCRL1 | CMKDR1 | Rbs11 | chemokine (C-X3-C motif) receptor 1
Database Links Click here for help
Specialist databases
GPCRdb cx3c1_human (Hs), cx3c1_mouse (Mm), cx3c1_rat (Rn)
Other databases
Alphafold
ChEMBL Target
Ensembl Gene
Entrez Gene
Human Protein Atlas
KEGG Gene
OMIM
Orphanet
Pharos
RefSeq Nucleotide
RefSeq Protein
UniProtKB
Wikipedia
Natural/Endogenous Ligands Click here for help
CX3CL1 {Sp: Human} , CX3CL1 {Sp: Mouse} , CX3CL1 {Sp: Rat}

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Agonists
Key to terms and symbols Click column headers to sort
Ligand Sp. Action Value Parameter Reference
CX3CL1 {Sp: Human} Peptide Ligand is endogenous in the given species Immunopharmacology Ligand Hs Full agonist 8.9 pIC50 12
pIC50 8.9 [12]
Antagonists
Key to terms and symbols View all chemical structures Click column headers to sort
Ligand Sp. Action Value Parameter Reference
JMS-17-2 Small molecule or natural product Hs Antagonist 9.5 pIC50 27
pIC50 9.5 (IC50 3.2x10-10 M) [27]
Description: Measuring the inhibition of FKN-stimulated ERK1/2 phosphorylation.
Immunopharmacology Comments
CX3CR1 is one of more than 20 distinct chemokine receptors expressed in human leukocytes. Chemokines primarily act to promote leukocyte chemotaxis to sites of inflammation.
Immuno Process Associations
Immuno Process:  Cytokine production & signalling
Immuno Process:  Inflammation
Immuno Process:  Immune regulation
Immuno Process:  Chemotaxis & migration
Immuno Process:  Cellular signalling
Primary Transduction Mechanisms Click here for help
Transducer Effector/Response
Gi/Go family Calcium channel
References:  24
Tissue Distribution Click here for help
Blood peripheral leukocytes.
Species:  Human
Technique:  Northern blotting.
References:  14
Blood monocytes.
Species:  Human
Technique: 
References:  26
Skeletal muscle, spleen, peripheral blood leukocytes.
Species:  Human
Technique:  Northern blotting.
References:  25
CNS: cerebral cortex, medulla, occipital pole, frontal lobe, temporal lobe, putamen, spinal cord.
Species:  Human
Technique:  Northern blotting.
References:  25
Brain, lung > liver, kidney, testes.
Species:  Mouse
Technique:  Northern blotting.
References:  6
Hippocampal neurons.
Species:  Rat
Technique:  RT-PCR.
References:  20
Primary cultures of rat astrocytes and microglia.
Species:  Rat
Technique:  Northern blotting.
References:  15
Glial cells throughout the whole brain.
Species:  Rat
Technique:  in situ hybridisation.
References:  23
Expression Datasets Click here for help

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Log average relative transcript abundance in mouse tissues measured by qPCR from Regard, J.B., Sato, I.T., and Coughlin, S.R. (2008). Anatomical profiling of G protein-coupled receptor expression. Cell, 135(3): 561-71. [PMID:18984166] [Raw data: website]

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Functional Assays Click here for help
Measurement of Ca2+ levels in HEK 293/EBNA-1 cells transfected with the human CX3CR1 receptor.
Species:  Human
Tissue:  HEK 293/EBNA-1 cells.
Response measured:  Ca2+ mobilisation.
References:  14
Measurement of chemotaxis of HEK 293/EBNA-1 cells transfected with the human CX3CR1 receptor.
Species:  Human
Tissue:  HEK 293/EBNA-1 cells.
Response measured:  Chemotaxis.
References:  14
Measurement of adhesion of HEK 293/EBNA-1 cells transfected with the human CX3CR1 receptor to immobilized fractalkine-SEAP (fractalkine, a chemokine, fused to a secreted form of placental alkaline phosphatase).
Species:  Human
Tissue:  HEK 293/EBNA-1 cells.
Response measured:  Cell adhesion.
References:  14
Detection of HIV-1 fusion to NIH 3T3 cells transfected with the CX3CR1 receptor and CD4.
Species:  Human
Tissue:  NIH 3T3 cells.
Response measured:  HEV-1 fusion.
References:  7
Measurement of Ca2+ currents in HEK 293 cells stably expressing N-type calcium channels and the rat CX3CR1 receptor, using Ba2+ as the charge carrier (IBa).
Species:  Rat
Tissue:  HEK 293 cells.
Response measured:  IBa inhibition.
References:  24
Measurement of chemotaxis of HEK 293 cells transfected with the mouse CX3CR1 receptor.
Species:  Mouse
Tissue:  HEK 293 cells.
Response measured:  Chemotaxis.
References:  6
Measurement of Ca2+ levels in HEK 293 cells transfected with the mouse CX3CR1 receptor.
Species:  Mouse
Tissue:  HEK 293 cells.
Response measured:  Ca2+ mobilisation.
References:  6
Physiological Functions Click here for help
Macrophage recruitment.
Species:  Mouse
Tissue:  In vivo.
References:  8
Atherogenesis.
Species:  Mouse
Tissue:  In vivo.
References:  8,17,29
Atherogenesis.
Species:  Human
Tissue:  In vivo.
References:  9
HIV coreceptor.
Species:  Human
Tissue:  In vitro.
References:  7
Physiological Consequences of Altering Gene Expression Click here for help
CX3CR1(-/-)/apoE(-/-) double knockout mice exhibit attenuated macrophage recruitment and atherosclerotic lesion development.
Species:  Mouse
Tissue: 
Technique:  Gene targeting in embryonic stem cells.
References:  8,17,29
Phenotypes, Alleles and Disease Models Click here for help Mouse data from MGI

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Allele Composition & genetic background Accession Phenotype Id Phenotype Reference
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
B6.129P2-Cx3cr1
MGI:1333815  MP:0004883 abnormal blood vessel healing PMID: 16809547 
Ccl2tm1Rol|Cx3cr1tm1Zm Ccl2tm1Rol/Ccl2tm1Rol,Cx3cr1tm1Zm/Cx3cr1tm1Zm
involves: 129 * 129S4/SvJae
MGI:1333815  MGI:98259  MP:0005239 abnormal Bruch membrane morphology PMID: 17652758 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
involves: 129P2/OlaHsd
MGI:1333815  MP:0002376 abnormal dendritic cell physiology PMID: 15653504 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
involves: 129P2/OlaHsd * C57BL/6
MGI:1333815  MP:0002442 abnormal leukocyte physiology PMID: 18843253 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
B6.129P2-Cx3cr1
MGI:1333815  MP:0002442 abnormal leukocyte physiology PMID: 16809547 
Cx3cr1+|Cx3cr1tm1Litt|Psen1tm1Mpm|Tg(APPSwe,tauP301L)1Lfa|Tg(Thy1-YFPH)2Jrs Cx3cr1tm1Litt/Cx3cr1+,Psen1tm1Mpm/Psen1tm1Mpm,Tg(APPSwe,tauP301L)1Lfa/0,Tg(Thy1-YFPH)2Jrs/0
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA
MGI:1202717  MGI:1333815  MGI:2684637  MGI:3497950  MP:0000136 abnormal microglial cell morphology PMID: 20305648 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
B6.129P2-Cx3cr1
MGI:1333815  MP:0003691 abnormal microglial cell physiology PMID: 16732273 
Cx3cr1+|Cx3cr1tm1Litt|Psen1tm1Mpm|Tg(APPSwe,tauP301L)1Lfa|Tg(Thy1-YFPH)2Jrs Cx3cr1tm1Litt/Cx3cr1+,Psen1tm1Mpm/Psen1tm1Mpm,Tg(APPSwe,tauP301L)1Lfa/0,Tg(Thy1-YFPH)2Jrs/0
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA
MGI:1202717  MGI:1333815  MGI:2684637  MGI:3497950  MP:0003691 abnormal microglial cell physiology PMID: 20305648 
Cx3cr1tm1Ifc Cx3cr1tm1Ifc/Cx3cr1tm1Ifc
involves: 129S4/SvJae * C57BL/6
MGI:1333815  MP:0005069 abnormal NK cell physiology PMID: 11544273 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
B6.129P2-Cx3cr1
MGI:1333815  MP:0005069 abnormal NK cell physiology PMID: 16675847 
Cx3cr1tm1Litt|H2-Ab1+|H2-Ab1tm1Hpl Cx3cr1tm1Litt/Cx3cr1tm1Litt,H2-Ab1tm1Hpl/H2-Ab1+
involves: 129P2/OlaHsd * 129S4/SvJae
MGI:103070  MGI:1333815  MP:0005025 abnormal response to infection PMID: 15653504 
Cx3cr1tm1Ifc Cx3cr1tm1Ifc/Cx3cr1tm1Ifc
involves: 129S4/SvJae * C57BL/6
MGI:1333815  MP:0005671 abnormal response to transplant PMID: 11544273 
Cx3cr1tm1Zm Cx3cr1tm1Zm/Cx3cr1tm1Zm
C.129-Cx3cr1
MGI:1333815  MP:0003728 abnormal retinal photoreceptor layer PMID: 17909628 
Cx3cr1tm1Zm Cx3cr1tm1Zm/Cx3cr1tm1Zm
involves: 129 * C57BL/6
MGI:1333815  MP:0003728 abnormal retinal photoreceptor layer PMID: 17909628 
Ccl2tm1Rol|Cx3cr1tm1Zm Ccl2tm1Rol/Ccl2tm1Rol,Cx3cr1tm1Zm/Cx3cr1tm1Zm
involves: 129 * 129S4/SvJae
MGI:1333815  MGI:98259  MP:0005103 abnormal retinal pigmentation PMID: 17652758 
Ccl2tm1Rol|Cx3cr1tm1Zm Ccl2tm1Rol/Ccl2tm1Rol,Cx3cr1tm1Zm/Cx3cr1tm1Zm
involves: 129 * 129S4/SvJae
MGI:1333815  MGI:98259  MP:0005201 abnormal retinal pigment epithelium morphology PMID: 17652758 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
involves: 129P2/OlaHsd * C57BL/6
MGI:1333815  MP:0001325 abnormal retina morphology PMID: 17909628 
Cx3cr1tm1Zm Cx3cr1tm1Zm/Cx3cr1tm1Zm
C.129-Cx3cr1
MGI:1333815  MP:0001325 abnormal retina morphology PMID: 17909628 
Cx3cr1tm1Zm Cx3cr1tm1Zm/Cx3cr1tm1Zm
involves: 129 * C57BL/6
MGI:1333815  MP:0001325 abnormal retina morphology PMID: 17909628 
Ccl2tm1Rol|Cx3cr1tm1Zm Ccl2tm1Rol/Ccl2tm1Rol,Cx3cr1tm1Zm/Cx3cr1tm1Zm
involves: 129 * 129S4/SvJae
MGI:1333815  MGI:98259  MP:0001325 abnormal retina morphology PMID: 17652758 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
involves: 129P2/OlaHsd
MGI:1333815  MP:0008108 abnormal small intestinal villus morphology PMID: 15653504 
Cx3cr1tm1Zm Cx3cr1tm1Zm/Cx3cr1tm1Zm
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
MGI:1333815  MP:0009333 abnormal splenocyte physiology PMID: 12600915 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
B6.129P2-Cx3cr1
MGI:1333815  MP:0005595 abnormal vascular smooth muscle physiology PMID: 16809547 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
B6.129P2-Cx3cr1
MGI:1333815  MP:0001847 brain inflammation PMID: 16675847 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
B6.129P2-Cx3cr1
MGI:1333815  MP:0006051 brainstem hemorrhage PMID: 16675847 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
involves: 129P2/OlaHsd * C57BL/6
MGI:1333815  MP:0005546 choroidal neovascularization PMID: 17909628 
Cx3cr1tm1Zm Cx3cr1tm1Zm/Cx3cr1tm1Zm
involves: 129 * C57BL/6
MGI:1333815  MP:0005546 choroidal neovascularization PMID: 17909628 
Ccl2tm1Rol|Cx3cr1tm1Zm Ccl2tm1Rol/Ccl2tm1Rol,Cx3cr1tm1Zm/Cx3cr1tm1Zm
involves: 129 * 129S4/SvJae
MGI:1333815  MGI:98259  MP:0005546 choroidal neovascularization PMID: 17652758 
Cx3cr1tm1Litt|Tg(SOD1*G93A)1Gur Cx3cr1tm1Litt/Cx3cr1tm1Litt,Tg(SOD1*G93A)1Gur/0
involves: 129P2/OlaHsd * C57BL/6 * SJL
MGI:1333815  MGI:2388308  MP:0010053 decreased grip strength PMID: 16732273 
Ccl2tm1Rol|Cx3cr1tm1Zm Ccl2tm1Rol/Ccl2tm1Rol,Cx3cr1tm1Zm/Cx3cr1tm1Zm
involves: 129 * 129S4/SvJae
MGI:1333815  MGI:98259  MP:0001935 decreased litter size PMID: 17652758 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
involves: 129P2/OlaHsd * C57BL/6
MGI:1333815  MP:0000223 decreased monocyte cell number PMID: 18971423 
Cx3cr1tm1Litt|Tg(SOD1*G93A)1Gur Cx3cr1tm1Litt/Cx3cr1tm1Litt,Tg(SOD1*G93A)1Gur/0
involves: 129P2/OlaHsd * C57BL/6 * SJL
MGI:1333815  MGI:2388308  MP:0008948 decreased neuron number PMID: 16732273 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
B6.129P2-Cx3cr1
MGI:1333815  MP:0008045 decreased NK cell number PMID: 16675847 
Cd1d1tm1Luc|Cx3cr1tm1Litt Cd1d1tm1Luc/Cd1d1tm1Luc,Cx3cr1tm1Litt/Cx3cr1tm1Litt
B6.129-Cd1d1 Cx3cr1
MGI:107674  MGI:1333815  MP:0008045 decreased NK cell number PMID: 16675847 
Apoetm1Bres|Cx3cr1tm1Ifc Apoetm1Bres/Apoetm1Bres,Cx3cr1tm1Ifc/Cx3cr1tm1Ifc
involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6
MGI:1333815  MGI:88057  MP:0005341 decreased susceptibility to atherosclerosis PMID: 12569158 
Apoetm1Unc|Cx3cr1tm1Zm Apoetm1Unc/Apoetm1Unc,Cx3cr1tm1Zm/Cx3cr1tm1Zm
B6.129-Apoe Cx3cr1
MGI:1333815  MGI:88057  MP:0005341 decreased susceptibility to atherosclerosis PMID: 12600915 
Apoetm1Unc|Cx3cr1+|Cx3cr1tm1Zm Apoetm1Unc/Apoetm1Unc,Cx3cr1tm1Zm/Cx3cr1+
B6.129-Apoe Cx3cr1
MGI:1333815  MGI:88057  MP:0005341 decreased susceptibility to atherosclerosis PMID: 12600915 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
involves: 129P2/OlaHsd * C57BL/6
MGI:1333815  MP:0004042 decreased susceptibility to kidney reperfusion injury PMID: 18843253 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
B6.129P2-Cx3cr1
MGI:1333815  MP:0000921 demyelination PMID: 16675847 
Ccl2tm1Rol|Cx3cr1tm1Zm Ccl2tm1Rol/Ccl2tm1Rol,Cx3cr1tm1Zm/Cx3cr1tm1Zm
involves: 129 * 129S4/SvJae
MGI:1333815  MGI:98259  MP:0008586 disorganized photoreceptor outer segment PMID: 17652758 
Cx3cr1tm1Ifc Cx3cr1tm1Ifc/Cx3cr1tm1Ifc
involves: 129S4/SvJae * C57BL/6
MGI:1333815  MP:0005496 impaired macrophage recruitment PMID: 11544273 
Apoetm1Bres|Cx3cr1tm1Ifc Apoetm1Bres/Apoetm1Bres,Cx3cr1tm1Ifc/Cx3cr1tm1Ifc
involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6
MGI:1333815  MGI:88057  MP:0005496 impaired macrophage recruitment PMID: 12569158 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
involves: 129P2/OlaHsd * C57BL/6
MGI:1333815  MP:0005496 impaired macrophage recruitment PMID: 18843253 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
B6.129P2-Cx3cr1
MGI:1333815  MP:0003203 increased neuron apoptosis PMID: 16732273 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
B6.129P2-Cx3cr1
MGI:1333815  MP:0008873 increased physiological sensitivity to xenobiotic PMID: 16732273 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
B6.129P2-Cx3cr1
MGI:1333815  MP:0009763 increased sensitivity to induced morbidity/mortality PMID: 16675847 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
involves: 129P2/OlaHsd
MGI:1333815  MP:0009788 increased susceptibility to bacterial infection induced morbidity/mortality PMID: 15653504 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
B6.129P2-Cx3cr1
MGI:1333815  MP:0004799 increased susceptibility to experimental autoimmune encephalomyelitis PMID: 16675847 
Cx3cr1+|Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1+
B6.129P2-Cx3cr1
MGI:1333815  MP:0004799 increased susceptibility to experimental autoimmune encephalomyelitis PMID: 16675847 
Cd1d1tm1Luc|Cx3cr1tm1Litt Cd1d1tm1Luc/Cd1d1tm1Luc,Cx3cr1tm1Litt/Cx3cr1tm1Litt
B6.129-Cd1d1 Cx3cr1
MGI:107674  MGI:1333815  MP:0004799 increased susceptibility to experimental autoimmune encephalomyelitis PMID: 16675847 
Cx3cr1tm1Litt|Tg(SOD1*G93A)1Gur Cx3cr1tm1Litt/Cx3cr1tm1Litt,Tg(SOD1*G93A)1Gur/0
involves: 129P2/OlaHsd * C57BL/6 * SJL
MGI:1333815  MGI:2388308  MP:0010180 increased susceptibility to weight loss PMID: 16732273 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
B6.129P2-Cx3cr1
MGI:1333815  MP:0008918 microgliosis PMID: 16732273 
Cx3cr1+|Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1+
B6.129P2-Cx3cr1
MGI:1333815  MP:0008918 microgliosis PMID: 16732273 
Cx3cr1+|Cx3cr1tm1Litt|Psen1tm1Mpm|Tg(APPSwe,tauP301L)1Lfa|Tg(Thy1-YFPH)2Jrs Cx3cr1tm1Litt/Cx3cr1+,Psen1tm1Mpm/Psen1tm1Mpm,Tg(APPSwe,tauP301L)1Lfa/0,Tg(Thy1-YFPH)2Jrs/0
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA
MGI:1202717  MGI:1333815  MGI:2684637  MGI:3497950  MP:0003224 neuron degeneration PMID: 20305648 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
B6.129P2-Cx3cr1
MGI:1333815  MP:0000753 paralysis PMID: 16675847 
Cd1d1tm1Luc|Cx3cr1tm1Litt Cd1d1tm1Luc/Cd1d1tm1Luc,Cx3cr1tm1Litt/Cx3cr1tm1Litt
B6.129-Cd1d1 Cx3cr1
MGI:107674  MGI:1333815  MP:0000753 paralysis PMID: 16675847 
Cx3cr1+|Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1+
B6.129P2-Cx3cr1
MGI:1333815  MP:0000754 paresis PMID: 16675847 
Cx3cr1tm1Litt|Tg(SOD1*G93A)1Gur Cx3cr1tm1Litt/Cx3cr1tm1Litt,Tg(SOD1*G93A)1Gur/0
involves: 129P2/OlaHsd * C57BL/6 * SJL
MGI:1333815  MGI:2388308  MP:0002083 premature death PMID: 16732273 
Cx3cr1tm1Zm Cx3cr1tm1Zm/Cx3cr1tm1Zm
C.129-Cx3cr1
MGI:1333815  MP:0001326 retinal degeneration PMID: 17909628 
Cx3cr1tm1Zm Cx3cr1tm1Zm/Cx3cr1tm1Zm
involves: 129 * C57BL/6
MGI:1333815  MP:0001326 retinal degeneration PMID: 17909628 
Cx3cr1tm1Zm Cx3cr1tm1Zm/Cx3cr1tm1Zm
involves: 129 * C57BL/6
MGI:1333815  MP:0006187 retinal deposits PMID: 17909628 
Ccl2tm1Rol|Cx3cr1tm1Zm Ccl2tm1Rol/Ccl2tm1Rol,Cx3cr1tm1Zm/Cx3cr1tm1Zm
involves: 129 * 129S4/SvJae
MGI:1333815  MGI:98259  MP:0006187 retinal deposits PMID: 17652758 
Ccl2tm1Rol|Cx3cr1tm1Zm Ccl2tm1Rol/Ccl2tm1Rol,Cx3cr1tm1Zm/Cx3cr1tm1Zm
involves: 129 * 129S4/SvJae
MGI:1333815  MGI:98259  MP:0008450 retinal photoreceptor degeneration PMID: 17652758 
Ccl2tm1Rol|Cx3cr1tm1Zm Ccl2tm1Rol/Ccl2tm1Rol,Cx3cr1tm1Zm/Cx3cr1tm1Zm
involves: 129 * 129S4/SvJae
MGI:1333815  MGI:98259  MP:0005548 retinal pigment epithelium atrophy PMID: 17652758 
Ccl2tm1Rol|Cx3cr1tm1Zm Ccl2tm1Rol/Ccl2tm1Rol,Cx3cr1tm1Zm/Cx3cr1tm1Zm
involves: 129 * 129S4/SvJae
MGI:1333815  MGI:98259  MP:0005549 retinal pigment epithelium hyperplasia PMID: 17652758 
Cx3cr1tm1Zm Cx3cr1tm1Zm/Cx3cr1tm1Zm
involves: 129 * C57BL/6
MGI:1333815  MP:0008515 thin retinal outer nuclear layer PMID: 17909628 
Ccl2tm1Rol|Cx3cr1tm1Zm Ccl2tm1Rol/Ccl2tm1Rol,Cx3cr1tm1Zm/Cx3cr1tm1Zm
involves: 129 * 129S4/SvJae
MGI:1333815  MGI:98259  MP:0010016 variable depigmentation PMID: 17652758 
Clinically-Relevant Mutations and Pathophysiology Click here for help
Disease:  Human immunodeficiency virus type 1, susceptibility to
Synonyms: Human immunodeficiency virus infectious disease [Disease Ontology: DOID:526]
Disease Ontology: DOID:526
OMIM: 609423
Orphanet: ORPHA319269
Disease:  Macular degeneration, age-related, 12; ARMD12
Synonyms: Age-related macular degeneration [Orphanet: ORPHA279] [Disease Ontology: DOID:10871]
Disease Ontology: DOID:10871
OMIM: 613784
Orphanet: ORPHA279
Comments: 
References:  4
Click column headers to sort
Type Species Amino acid change Nucleotide change Description Reference
Missense Human T280M 4
Biologically Significant Variants Click here for help
Type:  Single nucleotide polymorphism
Species:  Human
Description:  A Val249 -> Ile polymorphism is thought may be associated with increased intercellular adhesion.
Amino acid change:  V249I
References:  10
Type:  Single nucleotide failure
Species:  Human
Description:  A Val249 -> Ile polymorphism may be linked to immunological therapy failure.
Amino acid change:  V249I
References:  3
Type:  Single nucleotide polymorphism
Species:  Human
Description:  A Val249 -> Ile polymorphism may be associated with an decreased risk of atherosclerotic coronary artery disease and improved endothelium-dependent vasodilation.
Amino acid change:  V249I
References:  19,21
Type:  Single nucleotide polymorphism
Species:  Human
Description:  The Val249 -> Ile polymorphism may be linked to an increased occurrence of acute coronary syndrome (ACS).
Amino acid change:  V249I
References:  22
Type:  Single nucleotide polymorphism
Species:  Human
Description:  The Val249 -> Ile polymorphism may be involved in the stabilisation of carotid plaques.
Amino acid change:  V229I
References:  13
Type:  Single nucleotide polymorphism
Species:  Human
Description:  The Thr280 -> Met polymorphism is associated with a reduced risk of internal carotid artery (ICA) occlusive disease.
Amino acid change:  T280M
References:  13
Type:  Single nucleotide polymorphism
Species:  Human
Description:  A Thr280 -> Met polymorphism may be associated with a reduced risk of developing cardiovascular disease.
Amino acid change:  T280M
References:  18
Type:  Single nucleotide polymorphisms
Species:  Human
Description:  A Thr280 -> Met, Val249 -> Ile haplotype variant is associated with more rapid HIV-1 disease progression.
Amino acid change:  T280M; V249I
References:  11,28
Type:  Single nucleotide polymorphisms
Species:  Human
Description:  Both Thr280 -> Met and Val249 -> Ile polymorphisms are associated with an increased risk of brain infarction.
Amino acid change:  T280M; V249I
References:  16
Type:  Single nucleotide polymorphism
Species:  Human
Description:  The Thr280 -> Met polymorphism may be associated with the phenotype and localisation of Crohn's disease.
Amino acid change:  T280M
References:  2
Type:  Single nucleotide polymorphism
Species:  Human
Description:  The Thr280 -> Met polymorphism may be linked to a decreased occurrence of acute coronary syndrome (ACS).
Amino acid change:  T280M
References:  22
Type:  Single nucleotide polymorphism
Species:  Human
Description:  A Thr280 -> Met polymorphism may have an atheroprotective effect.
Amino acid change:  T280M
References:  1

References

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1. Apostolakis S, Baritaki S, Kochiadakis GE, Igoumenidis NE, Panutsopulos D, Spandidos DA. (2007) Effects of polymorphisms in chemokine ligands and receptors on susceptibility to coronary artery disease. Thromb Res, 119 (1): 63-71. [PMID:16480760]

2. Brand S, Hofbauer K, Dambacher J, Schnitzler F, Staudinger T, Pfennig S, Seiderer J, Tillack C, Konrad A, Göke B et al.. (2006) Increased expression of the chemokine fractalkine in Crohn's disease and association of the fractalkine receptor T280M polymorphism with a fibrostenosing disease Phenotype. Am J Gastroenterol, 101 (1): 99-106. [PMID:16405540]

3. Brumme ZL, Dong WW, Chan KJ, Hogg RS, Montaner JS, O'Shaughnessy MV, Harrigan PR. (2003) Influence of polymorphisms within the CX3CR1 and MDR-1 genes on initial antiretroviral therapy response. AIDS, 17 (2): 201-8. [PMID:12545080]

4. Chan CC, Tuo J, Bojanowski CM, Csaky KG, Green WR. (2005) Detection of CX3CR1 single nucleotide polymorphism and expression on archived eyes with age-related macular degeneration. Histol Histopathol, 20: 857-863. [PMID:15944936]

5. Combadiere C, Ahuja SK, Murphy PM. (1995) Cloning, chromosomal localization, and RNA expression of a human beta chemokine receptor-like gene. DNA Cell Biol, 14: 673-680. [PMID:7646814]

6. Combadiere C, Gao J, Tiffany HL, Murphy PM. (1998) Gene cloning, RNA distribution, and functional expression of mCX3CR1, a mouse chemotactic receptor for the CX3C chemokine fractalkine. Biochem Biophys Res Commun, 253 (3): 728-32. [PMID:9918795]

7. Combadiere C, Salzwedel K, Smith ED, Tiffany HL, Berger EA, Murphy PM. (1998) Identification of CX3CR1. A chemotactic receptor for the human CX3C chemokine fractalkine and a fusion coreceptor for HIV-1. J Biol Chem, 273: 23799-23804. [PMID:9726990]

8. Combadière C, Potteaux S, Gao JL, Esposito B, Casanova S, Lee EJ, Debré P, Tedgui A, Murphy PM, Mallat Z. (2003) Decreased atherosclerotic lesion formation in CX3CR1/apolipoprotein E double knockout mice. Circulation, 107 (7): 1009-16. [PMID:12600915]

9. Damås JK, Boullier A, Waehre T, Smith C, Sandberg WJ, Green S, Aukrust P, Quehenberger O. (2005) Expression of fractalkine (CX3CL1) and its receptor, CX3CR1, is elevated in coronary artery disease and is reduced during statin therapy. Arterioscler Thromb Vasc Biol, 25 (12): 2567-72. [PMID:16224053]

10. Daoudi M, Lavergne E, Garin A, Tarantino N, Debré P, Pincet F, Combadière C, Deterre P. (2004) Enhanced adhesive capacities of the naturally occurring Ile249-Met280 variant of the chemokine receptor CX3CR1. J Biol Chem, 279 (19): 19649-57. [PMID:14990582]

11. Faure S, Meyer L, Costagliola D, Vaneensberghe C, Genin E, Autran B, Delfraissy JF, McDermott DH, Murphy PM, Debré P et al.. (2000) Rapid progression to AIDS in HIV+ individuals with a structural variant of the chemokine receptor CX3CR1. Science, 287 (5461): 2274-7. [PMID:10731151]

12. Garin A, Tarantino N, Faure S, Daoudi M, Lécureuil C, Bourdais A, Debré P, Deterre P, Combadiere C. (2003) Two novel fully functional isoforms of CX3CR1 are potent HIV coreceptors. J Immunol, 171 (10): 5305-12. [PMID:14607932]

13. Ghilardi G, Biondi ML, Turri O, Guagnellini E, Scorza R. (2004) Internal carotid artery occlusive disease and polymorphisms of fractalkine receptor CX3CR1: a genetic risk factor. Stroke, 35 (6): 1276-9. [PMID:15118174]

14. Imai T, Hieshima K, Haskell C, Baba M, Nagira M, Nishimura M, Kakizaki M, Takagi S, Nomiyama H, Schall TJ et al.. (1997) Identification and molecular characterization of fractalkine receptor CX3CR1, which mediates both leukocyte migration and adhesion. Cell, 91 (4): 521-30. [PMID:9390561]

15. Jiang Y, Salafranca MN, Adhikari S, Xia Y, Feng L, Sonntag MK, deFiebre CM, Pennell NA, Streit WJ, Harrison JK. (1998) Chemokine receptor expression in cultured glia and rat experimental allergic encephalomyelitis. J Neuroimmunol, 86 (1): 1-12. [PMID:9655467]

16. Lavergne E, Labreuche J, Daoudi M, Debré P, Cambien F, Deterre P, Amarenco P, Combadière C, GENIC Investigators. (2005) Adverse associations between CX3CR1 polymorphisms and risk of cardiovascular or cerebrovascular disease. Arterioscler Thromb Vasc Biol, 25 (4): 847-53. [PMID:15681302]

17. Lesnik P, Haskell CA, Charo IF. (2003) Decreased atherosclerosis in CX3CR1-/- mice reveals a role for fractalkine in atherogenesis. J Clin Invest, 111 (3): 333-40. [PMID:12569158]

18. McDermott DH, Fong AM, Yang Q, Sechler JM, Cupples LA, Merrell MN, Wilson PW, D'Agostino RB, O'Donnell CJ, Patel DD, Murphy PM. (2003) Chemokine receptor mutant CX3CR1-M280 has impaired adhesive function and correlates with protection from cardiovascular disease in humans. J Clin Invest, 111: 1241-1250. [PMID:12697743]

19. McDermott DH, Halcox JP, Schenke WH, Waclawiw MA, Merrell MN, Epstein N, Quyyumi AA, Murphy PM. (2001) Association between polymorphism in the chemokine receptor CX3CR1 and coronary vascular endothelial dysfunction and atherosclerosis. Circ Res, 89 (5): 401-7. [PMID:11532900]

20. Meucci O, Fatatis A, Simen AA, Bushell TJ, Gray PW, Miller RJ. (1998) Chemokines regulate hippocampal neuronal signaling and gp120 neurotoxicity. Proc Natl Acad Sci USA, 95 (24): 14500-5. [PMID:9826729]

21. Moatti D, Faure S, Fumeron F, Amara Mel-W, Seknadji P, McDermott DH, Debré P, Aumont MC, Murphy PM, de Prost D et al.. (2001) Polymorphism in the fractalkine receptor CX3CR1 as a genetic risk factor for coronary artery disease. Blood, 97 (7): 1925-8. [PMID:11264153]

22. Niessner A, Marculescu R, Haschemi A, Endler G, Zorn G, Weyand CM, Maurer G, Mannhalter C, Wojta J, Wagner O et al.. (2005) Opposite effects of CX3CR1 receptor polymorphisms V249I and T280M on the development of acute coronary syndrome. A possible implication of fractalkine in inflammatory activation. Thromb Haemost, 93 (5): 949-54. [PMID:15886814]

23. Nishiyori A, Minami M, Ohtani Y, Takami S, Yamamoto J, Kawaguchi N, Kume T, Akaike A, Satoh M. (1998) Localization of fractalkine and CX3CR1 mRNAs in rat brain: does fractalkine play a role in signaling from neuron to microglia?. FEBS Lett, 429 (2): 167-72. [PMID:9650583]

24. Oh SB, Endoh T, Simen AA, Ren D, Miller RJ. (2002) Regulation of calcium currents by chemokines and their receptors. J Neuroimmunol, 123 (1-2): 66-75. [PMID:11880151]

25. Raport CJ, Schweickart VL, Eddy RL, Shows TB, Gray PW. (1995) The orphan G-protein-coupled receptor-encoding gene V28 is closely related to genes for chemokine receptors and is expressed in lymphoid and neural tissues. Gene, 163: 295-299. [PMID:7590284]

26. Sbrana S, Bevilacqua S, Buffa M, Spiller D, Parri MS, Gianetti J, De Filippis R, Clerico A. (2005) Post-reperfusion changes of monocyte function in coronary blood after extracorporeal circulation. Cytometry B Clin Cytom, 65 (1): 14-21. [PMID:15786508]

27. Shen F, Zhang Y, Jernigan DL, Feng X, Yan J, Garcia FU, Meucci O, Salvino JM, Fatatis A. (2016) Novel Small-Molecule CX3CR1 Antagonist Impairs Metastatic Seeding and Colonization of Breast Cancer Cells. Mol Cancer Res, 14 (6): 518-27. [PMID:27001765]

28. Singh KK, Hughes MD, Chen J, Spector SA. (2005) Genetic polymorphisms in CX3CR1 predict HIV-1 disease progression in children independently of CD4+ lymphocyte count and HIV-1 RNA load. J Infect Dis, 191 (11): 1971-80. [PMID:15871132]

29. Teupser D, Pavlides S, Tan M, Gutierrez-Ramos JC, Kolbeck R, Breslow JL. (2004) Major reduction of atherosclerosis in fractalkine (CX3CL1)-deficient mice is at the brachiocephalic artery, not the aortic root. Proc Natl Acad Sci USA, 101 (51): 17795-800. [PMID:15596719]

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