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CX3CR1 Gene

protein-coding   GIFtS: 64
GCID: GC03M039279

Chemokine (C-X3-C Motif) Receptor 1

(Previous name: chemokine (C-X3-C) receptor 1)
(Previous symbols: GPR13, CMKBRL1)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Chemokine (C-X3-C Motif) Receptor 11 2     C-X3-C CKR-12 3
GPR131 2 3 5     G-Protein Coupled Receptor 132 3
CMKBRL11 2 3     CCRL12
V282 3 5     CMKDR12
Chemokine (C-X3-C) Receptor 11 2     GPRV282
Beta Chemokine Receptor-Like 12 3     Chemokine (C-C) Receptor-Like 12
Fractalkine Receptor2 3     CX3C Chemokine Receptor 12
CMK-BRL-12 3     G Protein-Coupled Receptor 132
CMK-BRL12 3     

External Ids:    HGNC: 25581   Entrez Gene: 15242   Ensembl: ENSG000001683297   OMIM: 6014705   UniProtKB: P492383   

Export aliases for CX3CR1 gene to outside databases

Previous GC identifers: GC03M038644 GC03M038538 GC03M039118 GC03M039265


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CX3CR1 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 lead to increased susceptibility to HIV-1 infection and rapid progression to
AIDS. Four transcript variants encoding two different isoforms have been found for this gene. (provided by
RefSeq, Jan 2010)

GeneCards Summary for CX3CR1 Gene:
CX3CR1 (chemokine (C-X3-C motif) receptor 1) is a protein-coding gene. Diseases associated with CX3CR1 include macular degeneration, age-related, 12, and rapid progression to aids from hiv1 infection. GO annotations related to this gene include C-X3-C chemokine receptor activity and chemokine receptor activity. An important paralog of this gene is CCR5.

UniProtKB/Swiss-Prot: CX3C1_HUMAN, P49238
Function: Receptor for the CX3C chemokine fractalkine and mediates both its adhesive and migratory functions. Acts
as coreceptor with CD4 for HIV-1 virus envelope protein (in vitro). Isoform 2 and isoform 3 seem to be more
potent HIV-1 coreceptors than isoform 1

Gene Wiki entry for CX3CR1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NC_018914.2  NT_022517.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the CX3CR1 gene promoter:
         Bach1   Brachyury   GATA-1   AREB6   PPAR-gamma1   HFH-1   FOXJ2 (long isoform)   PPAR-gamma2   FOXJ2   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCX3CR1 promoter sequence
   Search Chromatin IP Primers for CX3CR1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CX3CR1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p21.3   Ensembl cytogenetic band:  3p22.2   HGNC cytogenetic band: 3p21.3

CX3CR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CX3CR1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M039279:  view genomic region     (about GC identifiers)

Start:
39,304,985 bp from pter      End:
39,323,226 bp from pter
Size:
18,242 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CX3C1_HUMAN, P49238 (See protein sequence)
Recommended Name: CX3C chemokine receptor 1  
Size: 355 amino acids; 40396 Da
Subunit: Interacts with human respiratory syncytial virus (HRSV) protein G; this interaction modulates host immune
response. Interacts with HIV-1 envelope polyprotein gp160
Secondary accessions: A0N0N6 B2R5Z4 J3KP17
Alternative splicing: 4 isoforms:  P49238-1   P49238-2   P49238-3   P49238-4   (Ref.4 (DA413545) sequence is in conflict in position: 8:F->L. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CX3CR1: NX_P49238

Explore proteomics data for CX3CR1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CX3CR1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001164642.1  NP_001164643.1  NP_001164645.1  NP_001328.1  

    ENSEMBL proteins: 
     ENSP00000382166   ENSP00000394960   ENSP00000408835   ENSP00000351059   ENSP00000439140  
     ENSP00000444928  
    Reactome Protein details: P49238

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CX3CR: GPCR / Class A : Chemokine receptors : C-X-3-C motif

    IUPHAR Guide to PHARMACOLOGY protein family classification: CX3CR1
    Chemokine receptors

    4 InterPro protein domains:
     IPR017452 GPCR_Rhodpsn_7TM
     IPR005387 Chemokine_CX3CR1
     IPR000355 Chemokine_rcpt
     IPR000276 GPCR_Rhodpsn

    Graphical View of Domain Structure for InterPro Entry P49238

    ProtoNet protein and cluster: P49238

    2 Blocks protein domains:
    IPB000355 Chemokine receptor signature
    IPB005387 Fractalkine receptor signature


    UniProtKB/Swiss-Prot: CX3C1_HUMAN, P49238
    Similarity: Belongs to the G-protein coupled receptor 1 family


    CX3CR1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CX3C1_HUMAN, P49238
    Function: Receptor for the CX3C chemokine fractalkine and mediates both its adhesive and migratory functions. Acts
    as coreceptor with CD4 for HIV-1 virus envelope protein (in vitro). Isoform 2 and isoform 3 seem to be more
    potent HIV-1 coreceptors than isoform 1

         Genatlas biochemistry entry for CX3CR1:
    fractalkine receptor CX3CR1,expressed in T lymphocytes,polynuclear,G protein coupled receptor
    superfamily,mediating leukocyte migration and adhesion

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004896cytokine receptor activity ----
    GO:0004930G-protein coupled receptor activity ----
    GO:0004950chemokine receptor activity TAS10754298
    GO:0005515protein binding IPI9931005
    GO:0016495C-X3-C chemokine receptor activity IEA--
         
    CX3CR1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CX3CR1:
     Decreased nuclei size in G2M 

         Selected MGI mutant phenotypes (inferred from 7 alleles(MGI details for Cx3cr1) (see all 18):
     behavior/neurological  cardiovascular system  cellular  digestive/alimentary  growth/size/body 
     hematopoietic system  homeostasis/metabolism  immune system  integument  mortality/aging 
     muscle  nervous system  no phenotypic analysis  normal  pigmentation 

    CX3CR1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CX3CR1: Cx3cr1tm1Ifc Cx3cr1tm1Zm

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CX3CR1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CX3CR1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CX3CR1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CX3CR1

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    hsa-miR-183* hsa-miR-4261 hsa-miR-188-5p hsa-miR-138-2*
    SwitchGear 3'UTR luciferase reporter plasmidCX3CR1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CX3C1_HUMAN, P49238: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular2
    nucleus2
    cytoskeleton1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS9390561
    GO:0016021integral component of membrane ----
    GO:0032809neuronal cell body membrane IEA--
    GO:0043005neuron projection IEA--

    CX3CR1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CX3CR1 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Peptide ligand-binding receptors
    Class A/1 (Rhodopsin-like receptors)0.71
    Peptide ligand-binding receptors0.60
    GPCR ligand binding0.71
    GPCRs, Class A Rhodopsin-like0.43
    2Chemokine Superfamily: Human/Mouse Ligand-Receptor Interactions
    Chemokine Superfamily: Human/Mouse Ligand-Receptor Interactions0.81
    Chemokine receptors bind chemokines0.81
    3Neuropeptides signaling through G protein alpha i and G protein alpha q
    Peptide GPCRs0.46
    Neuropeptides signaling through G protein alpha i and G protein alpha q0.46
    4PEDF Induced Signaling
    STAT3 Pathway0.47
    Cytokine-cytokine receptor interaction0.43
    5Chemokine Signaling
    Chemokine signaling pathway0.33
    Chemokine Signaling0.33

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 R&D Systems Pathways for CX3CR1
        A-beta Uptake & Degradation
    Chemokine Superfamily: Human/Mouse Ligand-Receptor Interactions

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CX3CR1 (see all 7)
        Chemokine Signaling
    STAT3 Pathway
    Molecular Mechanisms of Cancer
    Antioxidant Action of Vitamin-C
    p38 Signaling

    2 BioSystems Pathways for CX3CR1
        GPCRs, Class A Rhodopsin-like
    Peptide GPCRs

    1 Reactome Pathway for CX3CR1
        Chemokine receptors bind chemokines


    2 Kegg Pathways  (Kegg details for CX3CR1):
        Cytokine-cytokine receptor interaction
    Chemokine signaling pathway


    CX3CR1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CX3CR1: 
              G Protein Coupled Receptors 384HT in human mouse rat
              Neurotrophins & Receptors in human mouse rat
              Inflammatory Cytokines & Receptors in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat
              Chemokines & Receptors in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CX3CR1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CX3CR1 (P492383 ENSP000003821664) via UniProtKB, MINT, STRING, and/or I2D (see all 59)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CX3CL1P784233, ENSP000000060534I2D: score=3 STRING: ENSP00000006053
    ADRBK1ENSP000003122624STRING: ENSP00000312262
    ADRBK2ENSP000003175784STRING: ENSP00000317578
    ARRB1ENSP000003771414STRING: ENSP00000377141
    ARRB2ENSP000002692604STRING: ENSP00000269260
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002282microglial cell activation involved in immune response IEA--
    GO:0006935chemotaxis TAS10754298
    GO:0006968cellular defense response TAS10754298
    GO:0007155cell adhesion IEA--
    GO:0007186G-protein coupled receptor signaling pathway TAS10754298

    CX3CR1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CX3CR1 (CX3C1)

    2 IUPHAR Ligands for CX3CR1 (CX3CR1)    About this table
    LigandTypeActionAffinityPubmed IDs
    CX3CL1
    AgonistFull agonist8.914607932
    [125I]CX3CL1 (human)
    AgonistFull agonist8.9--

    9 Novoseek inferred chemical compound relationships for CX3CR1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rantes 64.1 13 7646814 (2), 16314800 (2), 12879309 (2), 16542377 (2) (see all 8)
    ccl3 62.8 3 15784733 (1), 16978874 (1), 19067439 (1)
    grgdsp 45.7 1 16042481 (1)
    ccl4 22.5 2 16978874 (1), 19067439 (1)
    linoleic acid 15 1 16908772 (1)
    oxygen 0 1 17476338 (1)
    calcium 0 6 11777952 (1), 14607932 (1), 15598425 (1), 16166268 (1) (see all 5)
    phosphatidylinositol 0 2 16166268 (1), 17963723 (1)
    vegf 0 6 16979977 (5), 16823865 (1)



    CX3CR1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CX3CR1 gene (4 alternative transcripts): 
    NM_001171171.1  NM_001171172.1  NM_001171174.1  NM_001337.3  

    Unigene Cluster for CX3CR1:

    Chemokine (C-X3-C motif) receptor 1
    Hs.78913  [show with all ESTs]
    Unigene Representative Sequence: NM_001171171
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000399220(uc003cjl.3) ENST00000435290 ENST00000412814 ENST00000358309(uc021wwc.1)
    ENST00000541347(uc021wwb.1) ENST00000542107(uc021wwa.1)
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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      QuantiFast Probe-based Assays in human, mouse, rat CX3CR1

    Additional mRNA sequence: 

    AK225764.1 AK307911.1 AK312373.1 BC028078.1 U20350.1 U28934.1 

    6 DOTS entries:

    DT.440934  DT.97864067  DT.120888220  DT.120888223  DT.120888224  DT.40313986 

    Selected AceView cDNA sequences (see all 59):

    CN832906 BP362058 F05609 AW383382 CN832588 BC028078 Z39769 AI393440 
    AI697227 BP430014 BQ015469 BC017855 U20350 CF994665 BF431353 Z43711 
    NM_001337 F01871 BQ008660 AI400350 U28934 BQ015421 N51278 CA449437 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CX3CR1 expression in normal human tissues (normalized intensities)      CX3CR1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACCCCAATT
    CX3CR1 Expression
    About this image


    CX3CR1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 4 entries
             Macrophage-Dendritic cell progenitors Hematopoietic Bone Marrow
     
     Chorion (Extraembryonic Tissues)
             Hofbauer Cells Chorionic Villus
     
     Limb (Muscoskeletal System)
             Limb Muscle Progenitor Cells Forelimb Myotome
     
     Placenta (Extraembryonic Tissues)
             Hofbauer Cells Chorionic Villus
     
     Skeletal Muscle (Muscoskeletal System)
             Limb Muscle Progenitor Cells Forelimb Myotome
    CX3CR1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CX3CR1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.78913

    UniProtKB/Swiss-Prot: CX3C1_HUMAN, P49238
    Tissue specificity: Expressed in lymphoid and neural tissues

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CX3CR1: 
              G Protein Coupled Receptors 384HT in human mouse rat
              Neurotrophins & Receptors in human mouse rat
              Inflammatory Cytokines & Receptors in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat
              Chemokines & Receptors in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CX3CR1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CX3CR1 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cx3cr11 , 5 chemokine (C-X3-C) receptor 15
    chemokine (C-X3-C motif) receptor 11
    80.72(n)1
    83.48(a)1
      9 (71.37 cM)5
    130511  NM_009987.41  NP_034117.31 
     1200486935 
    chicken
    (Gallus gallus)
    Aves CX3CR11 chemokine (C-X3-C motif) receptor 1 61.35(n)
    53.85(a)
      420719  XM_004939482.1  XP_004939539.1 
    lizard
    (Anolis carolinensis)
    Reptilia CX3CR16
    chemokine (C-X3-C motif) receptor 1
    47(a)
    1 ↔ 1
    GL343324.1(552381-553448)


    ENSEMBL Gene Tree for CX3CR1 (if available)
    TreeFam Gene Tree for CX3CR1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CX3CR1 gene
    CCR52  CCR62  CXCR62  ACKR42  CXCR32  XCR12  CCR92  CCRL22  
    CCR72  ACKR22  CCR82  CXCR22  CCR12  CCR42  CXCR12  CCR22  
    CXCR52  CCR102  CCR32  CXCR42  
    Selected SIMAP similar genes for CX3CR1 using alignment to 3 protein entries:     CX3C1_HUMAN (see all proteins) (see all similar genes):
    CCKBR    CCR-5    CCR5    CCR8    CCR1    CCR3
    CXCR2    CCR2    OPRM1    CCR4    GPR18    SSTR5
    FPR1    IL8RB    XCR1    BDKRB1    CMKLR1    ACKR4

    CX3CR1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    CX3C1_HUMAN, P49238: Variations in CX3CR1 are associated with rapid progression to AIDS [MIM:609423]. Increased
    susceptibility to HIV infection and rapid progression to AIDS are associated with the Ile-249/Met-280 haplotype


    Selected SNPs for CX3CR1 (see all 486)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs37323781,2,,4
    C,F,Hpathogenic139239650(+) CAACCA/GTCTCA 8 T M mis1 ese334Minor allele frequency- T:0.00EA MN NA NS EU 5867
    rs37323791,2,,4
    C,F,Hpathogenic139239744(+) CATAAC/TGTTGT 8 I V mis141Minor allele frequency- T:0.14EA MN NA NS WA EU 6510
    rs559271581,2
    C--39237007(-) TGAGCT/AGAGCT 4 -- ds50015Minor allele frequency- A:0.01NS 190
    rs561925861,2
    C,F--39237017(-) AGGAAC/TTTTCT 4 -- ds50015Minor allele frequency- T:0.01NS 190
    rs117132821,2
    C,F,A,H--39237037(+) TCCGCT/CTCTAA 4 -- ds500123Minor allele frequency- C:0.13NA NS EA WA 1536
    rs561151521,2
    C,F--39237040(-) GCGTTA/GGAAGC 4 -- ds50016Minor allele frequency- G:0.03NS WA 308
    rs559567831,2
    C,F--39237043(-) AAGGCG/ATTAGA 4 -- ds50016Minor allele frequency- A:0.02NS WA 308
    rs170386451,2
    C,F,H--39237058(+) TATTCG/ACACAG 4 -- ds500130Minor allele frequency- A:0.04NA NS EA WA 3100
    rs170386471,2
    C,F,H--39237076(+) TCACAT/CTGTGG 4 -- ds500122Minor allele frequency- C:0.10NA NS EA WA 2222
    rs111298191,2
    C,F,A,H--39237090(+) TCACAC/TACTTC 4 -- ds500125Minor allele frequency- T:0.14NA NS EA WA 2558

    HapMap Linkage Disequilibrium report for CX3CR1 (39304985 - 39323226 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CX3CR1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv3772CNV Insertion18451855

    Human Gene Mutation Database (HGMD): CX3CR1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CX3CR1
    DNA2.0 Custom Variant and Variant Library Synthesis for CX3CR1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601470   
    OMIM disorders: 609423  607339  613784  
    UniProtKB/Swiss-Prot: CX3C1_HUMAN, P49238
  • Macular degeneration, age-related, 12 (ARMD12) [MIM:613784]: A form of age-related macular degeneration,
    a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In
    most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and
    lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch
    membrane. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry

  • Selected diseases for CX3CR1 (see all 97):    About MalaCards
    macular degeneration, age-related, 12    rapid progression to aids from hiv1 infection    carotid artery occlusion    coronary artery disease
    tropical spastic paraparesis    htlv-1 associated myelopathy/tropical spastic paraparesis    aneurysm disease    hiv1 infection
    htlv-1 associated myelopathy    retinal vasculitis    spastic paraparesis    cerebrovascular disease
    neuroretinitis    pneumoconiosis    age related macular degeneration    hiv-1
    synovitis    pancreatic ductal adenocarcinoma    vasculitis    angina pectoris

    2 diseases from the University of Copenhagen DISEASES database for CX3CR1:
    Age related macular degeneration     Atherosclerosis

    CX3CR1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for CX3CR1 gene (see all 30)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    inflammation 50.2 18 19915801 (2), 16026776 (1), 16751386 (1), 15608300 (1) (see all 14)
    atherosclerosis 49 12 12459434 (2), 16908772 (1), 15017357 (1), 16675737 (1) (see all 10)
    rheumatoid arthritis 38 7 12889997 (2), 15880821 (1), 17471309 (1), 18633630 (1) (see all 6)
    hiv infections 32.9 15 12799549 (2), 12969992 (1), 16478397 (1), 12646802 (1) (see all 9)
    immunodeficiency 30.5 3 15871132 (1), 12975017 (1), 12551893 (1)
    synovitis 25.7 1 15880821 (1)
    necrosis 24.6 5 12428227 (1), 17063178 (1), 16542377 (1), 16614140 (1) (see all 5)
    coronary artery disease 19.9 8 12969992 (1), 16224053 (1), 17329566 (1), 15017357 (1) (see all 8)
    coronary atherosclerosis 16.8 1 12697743 (1)
    aids 15 12 17151939 (3), 15787642 (1), 12975017 (1), 19032065 (1) (see all 6)

    Genetic Association Database (GAD): CX3CR1
    Human Genome Epidemiology (HuGE) Navigator: CX3CR1 (92 documents)

    Export disorders for CX3CR1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CX3CR1 gene, integrated from 10 sources (see all 354):
    (articles sorted by number of sources associating them with CX3CR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of CX3CR1. A chemotactic receptor for the human CX3C chemokine fractalkine and a fusion coreceptor for HIV-1. (PubMed id 9726990)1, 2, 3, 9 Combadiere C....Murphy P.M. (J. Biol. Chem. 1998)
    2. Cloning, chromosomal localization, and RNA expression of a human beta chemokine receptor-like gene. (PubMed id 7646814)1, 2, 3, 9 Combadiere C.... Murphy P.M. (DNA Cell Biol. 1995)
    3. Polymorphism in the fractalkine receptor CX3CR1 as a genetic risk factor for coronary artery disease. (PubMed id 11264153)1, 2, 4, 9 Moatti D....Combadiere C. (Blood 2001)
    4. Lack of association between the functional CX3CR1 polymorphism V249I and hepatocellular carcinoma. (PubMed id 15809764)1, 4, 9 MA1hlbauer M....Hellerbrand C. (Oncol. Rep. 2005)
    5. The fractalkine receptor CX3CR1 is involved in liver fibrosis due to chronic hepatitis C infection. (PubMed id 18078680)1, 4, 9 Wasmuth H.E....Lammert F. (J. Hepatol. 2008)
    6. Association study between the CX3CR1 gene and asthma. (PubMed id 17082760)1, 4, 9 Tremblay K....Laprise C. (Genes Immun. 2006)
    7. Adverse associations between CX3CR1 polymorphisms and risk of cardiovascular or cerebrovascular disease. (PubMed id 15681302)1, 4, 9 Lavergne E....CombadiA"re C. (Arterioscler. Thromb. Vasc. Biol. 2005)
    8. The involvement of sequence variation and expression of CX3CR1 in the pathogenesis of age-related macular degeneration. (PubMed id 15208270)1, 2, 9 Tuo J.... Chan C.C. (FASEB J. 2004)
    9. Genomic organization and evolution of the CX3CR1/CCR8 chemokine receptor locus. (PubMed id 12551893)1, 2, 9 DeVries M.E.... Kelvin D.J. (J. Biol. Chem. 2003)
    10. Two novel fully functional isoforms of CX3CR1 are potent HIV coreceptors. (PubMed id 14607932)1, 2, 9 Garin A.... Combadiere C. (J. Immunol. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1524 HGNC: 2558 AceView: CX3CR1 Ensembl:ENSG00000168329 euGenes: HUgn1524
    ECgene: CX3CR1 Kegg: 1524 H-InvDB: CX3CR1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CX3CR1 Pharmacogenomics, SNPs, Pathways
    NIEHS-SNPshttp://egp.gs.washington.edu/data/cx3cr1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CX3CR1 gene:
    Search GeneIP for patents involving CX3CR1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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