CX3CR1 (C-X3-C motif chemokine receptor 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1524
Gene name Gene Name - the full gene name approved by the HGNC.
C-X3-C motif chemokine receptor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CX3CR1
Synonyms (NCBI Gene) Gene synonyms aliases
CCRL1, CMKBRL1, CMKDR1, GPR13, GPRV28, V28
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p22.2
Summary Summary of gene provided in NCBI Entrez Gene.
Fractalkine is a transmembrane protein and chemokine involved in the adhesion and migration of leukocytes. The protein encoded by this gene is a receptor for fractalkine. The encoded protein also is a coreceptor for HIV-1, and some variations in this gene
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
SNP ID Visualize variation Clinical significance Consequence
rs3732378 G>A Protective, risk-factor, pathogenic Coding sequence variant, missense variant
rs3732379 C>T Protective, risk-factor, pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(21)
miRTarBase ID miRNA Experiments Reference
MIRT917546 hsa-miR-1207-5p CLIP-seq
MIRT917547 hsa-miR-1236 CLIP-seq
MIRT917548 hsa-miR-127-5p CLIP-seq
MIRT917549 hsa-miR-204 CLIP-seq
MIRT917550 hsa-miR-211 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0002052 Process Positive regulation of neuroblast proliferation ISS
GO:0002931 Process Response to ischemia ISS
GO:0004930 Function G protein-coupled receptor activity ISS
GO:0004950 Function Chemokine receptor activity TAS 10754298
GO:0005515 Function Protein binding IPI 9931005
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601470 2558 ENSG00000168329
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P49238
Protein name CX3C chemokine receptor 1 (C-X3-C CKR-1) (CX3CR1) (Beta chemokine receptor-like 1) (CMK-BRL-1) (CMK-BRL1) (Fractalkine receptor) (G-protein coupled receptor 13) (V28)
Protein function Receptor for the C-X3-C chemokine fractalkine (CX3CL1) present on many early leukocyte cells; CX3CR1-CX3CL1 signaling exerts distinct functions in different tissue compartments, such as immune response, inflammation, cell adhesion and chemotaxis
PDB 7XBW , 7XBX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00001 7tm_1 48 → 293 7 transmembrane receptor (rhodopsin family) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in lymphoid and neural tissues (PubMed:7590284). Expressed in lymphocyte subsets, such as natural killer (NK) cells, gamma-delta T-cells and terminally differentiated CD8(+) T-cells (PubMed:12055230). Expressed in smooth musc
Sequence
Sequence length 355
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Cytokine-cytokine receptor interaction
Viral protein interaction with cytokine and cytokine receptor
Chemokine signaling pathway
Efferocytosis 		  Chemokine receptors bind chemokines
G alpha (i) signalling events
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Age-related macular degeneration MACULAR DEGENERATION, AGE-RELATED, 12, NON RARE IN EUROPE: Age-related macular degeneration rs199474657, rs61750120, rs1800728, rs62654397, rs61749423, rs61751412, rs61749439, rs61751398, rs61752417, rs62645946, rs1801269, rs62646860, rs61750142, rs61750145, rs61750152
View all (20 more)
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Coronary heart disease Coronary heart disease ClinVar
Show/Hide Text Mining Associations (177)
Associations from Text Mining
Disease Name Relationship Type References
Abortion Habitual Associate 35027970
Acquired Immunodeficiency Syndrome Associate 18391751, 20531015
Acute Coronary Syndrome Associate 11264153
Acute Coronary Syndrome Inhibit 12697743
Adenocarcinoma Associate 26633537, 31077234
Adenocarcinoma Inhibit 30150990
Adenocarcinoma of Lung Associate 33977344, 35833114, 37770496
Adenoma Associate 35140706
Adrenocortical Carcinoma Associate 34220331
alpha 1 Antitrypsin Deficiency Associate 34002692