Human Gene CX3CR1 (ENST00000399220.3_13) from GENCODE V47lift37
  Description: C-X3-C motif chemokine receptor 1, transcript variant 4 (from RefSeq NM_001337.4)
Gencode Transcript: ENST00000399220.3_13
Gencode Gene: ENSG00000168329.14_16
Transcript (Including UTRs)
   Position: hg19 chr3:39,304,987-39,321,527 Size: 16,541 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg19 chr3:39,306,933-39,308,000 Size: 1,068 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:39,304,987-39,321,527)mRNA (may differ from genome)Protein (355 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CX3C1_HUMAN
DESCRIPTION: RecName: Full=CX3C chemokine receptor 1; Short=C-X3-C CKR-1; Short=CX3CR1; AltName: Full=Beta chemokine receptor-like 1; AltName: Full=CMK-BRL-1; Short=CMK-BRL1; AltName: Full=Fractalkine receptor; AltName: Full=G-protein coupled receptor 13; AltName: Full=V28;
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.
SUBUNIT: Interacts with human respiratory syncytial virus (HRSV) protein G; this interaction modulates host immune response. Interacts with HIV-1 envelope polyprotein gp160.
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Expressed in lymphoid and neural tissues.
POLYMORPHISM: 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.
DISEASE: Defects in CX3CR1 are a cause of susceptibility to age- related macular degeneration type 12 (ARMD12) [MIM:613784]. ARMD12 is 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.
SIMILARITY: Belongs to the G-protein coupled receptor 1 family.
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/cx3cr1/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CX3CR1
Diseases sorted by gene-association score: macular degeneration, age-related, 12* (569), coronary artery disease* (568), hiv-1* (347), retinal vasculitis (10), cerebrovascular disease (7), degeneration of macula and posterior pole (5), macular degeneration, age-related, 1 (5), eye disease (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.33 RPKM in Whole Blood
Total median expression: 48.28 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -27.9092-0.303 Picture PostScript Text
3' UTR -521.101946-0.268 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000276 - 7TM_GPCR_Rhodpsn
IPR005387 - Chemokine_fractalkine_CX3CR1
IPR017452 - GPCR_Rhodpsn_supfam

Pfam Domains:
PF00001 - 7 transmembrane receptor (rhodopsin family)
PF10320 - Serpentine type 7TM GPCR chemoreceptor Srsx

SCOP Domains:
81321 - Family A G protein-coupled receptor-like

ModBase Predicted Comparative 3D Structure on P49238
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004871 signal transducer activity
GO:0004896 cytokine receptor activity
GO:0004930 G-protein coupled receptor activity
GO:0004950 chemokine receptor activity
GO:0005515 protein binding
GO:0016495 C-X3-C chemokine receptor activity
GO:0019960 C-X3-C chemokine binding

Biological Process:
GO:0002052 positive regulation of neuroblast proliferation
GO:0002282 microglial cell activation involved in immune response
GO:0006935 chemotaxis
GO:0006968 cellular defense response
GO:0007155 cell adhesion
GO:0007165 signal transduction
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007613 memory
GO:0009611 response to wounding
GO:0016032 viral process
GO:0016525 negative regulation of angiogenesis
GO:0019221 cytokine-mediated signaling pathway
GO:0021795 cerebral cortex cell migration
GO:0030336 negative regulation of cell migration
GO:0045766 positive regulation of angiogenesis
GO:0048246 macrophage chemotaxis
GO:0070098 chemokine-mediated signaling pathway
GO:0071222 cellular response to lipopolysaccharide
GO:0071560 cellular response to transforming growth factor beta stimulus
GO:1900272 negative regulation of long-term synaptic potentiation
GO:2001240 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0032809 neuronal cell body membrane
GO:0043005 neuron projection
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  LF384605 - JP 2014500723-A/192108: Polycomb-Associated Non-Coding RNAs.
AB464486 - Synthetic construct DNA, clone: pF1KB8986, Homo sapiens CX3CR1 gene for chemokine (C-X3-C motif) receptor 1, without stop codon, in Flexi system.
MA620182 - JP 2018138019-A/192108: Polycomb-Associated Non-Coding RNAs.
BC028078 - Homo sapiens chemokine (C-X3-C motif) receptor 1, mRNA (cDNA clone MGC:40024 IMAGE:5216452), complete cds.
LP880266 - Sequence 70 from Patent WO2017181111.
LP882085 - Sequence 27 from Patent WO2017181079.
U20350 - Human G protein-coupled receptor V28 mRNA, complete cds.
AK225764 - Homo sapiens mRNA for chemokine (C-X3-C motif) receptor 1 variant, clone: FCC134C01.
JD082822 - Sequence 63846 from Patent EP1572962.
JD563355 - Sequence 544379 from Patent EP1572962.
JD299585 - Sequence 280609 from Patent EP1572962.
JD382291 - Sequence 363315 from Patent EP1572962.
JD143132 - Sequence 124156 from Patent EP1572962.
JD085532 - Sequence 66556 from Patent EP1572962.
JD555930 - Sequence 536954 from Patent EP1572962.
JD113508 - Sequence 94532 from Patent EP1572962.
JD426107 - Sequence 407131 from Patent EP1572962.
JD188671 - Sequence 169695 from Patent EP1572962.
JD113301 - Sequence 94325 from Patent EP1572962.
JD418596 - Sequence 399620 from Patent EP1572962.
LF378879 - JP 2014500723-A/186382: Polycomb-Associated Non-Coding RNAs.
JD196437 - Sequence 177461 from Patent EP1572962.
JD561667 - Sequence 542691 from Patent EP1572962.
JD273801 - Sequence 254825 from Patent EP1572962.
JD422728 - Sequence 403752 from Patent EP1572962.
JD404226 - Sequence 385250 from Patent EP1572962.
JD468007 - Sequence 449031 from Patent EP1572962.
JD345756 - Sequence 326780 from Patent EP1572962.
JD423590 - Sequence 404614 from Patent EP1572962.
JD353890 - Sequence 334914 from Patent EP1572962.
JD110703 - Sequence 91727 from Patent EP1572962.
JD038869 - Sequence 19893 from Patent EP1572962.
JD516239 - Sequence 497263 from Patent EP1572962.
JD307866 - Sequence 288890 from Patent EP1572962.
JD336205 - Sequence 317229 from Patent EP1572962.
JD163153 - Sequence 144177 from Patent EP1572962.
JD417304 - Sequence 398328 from Patent EP1572962.
JD320442 - Sequence 301466 from Patent EP1572962.
JD303263 - Sequence 284287 from Patent EP1572962.
JD436661 - Sequence 417685 from Patent EP1572962.
JD111932 - Sequence 92956 from Patent EP1572962.
JD457772 - Sequence 438796 from Patent EP1572962.
JD190533 - Sequence 171557 from Patent EP1572962.
JD386974 - Sequence 367998 from Patent EP1572962.
JD124507 - Sequence 105531 from Patent EP1572962.
AK307911 - Homo sapiens cDNA, FLJ97859.
U28934 - Human beta chemokine receptor-like 1 mRNA, complete cds.
JD171781 - Sequence 152805 from Patent EP1572962.
JD121187 - Sequence 102211 from Patent EP1572962.
JD439367 - Sequence 420391 from Patent EP1572962.
JD285384 - Sequence 266408 from Patent EP1572962.
AK312373 - Homo sapiens cDNA, FLJ92697, highly similar to Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), mRNA.
KJ896673 - Synthetic construct Homo sapiens clone ccsbBroadEn_06067 CX3CR1 gene, encodes complete protein.
DQ891063 - Synthetic construct clone IMAGE:100003693; FLH168974.01X; RZPDo839F0294D chemokine (C-X3-C motif) receptor 1 (CX3CR1) gene, encodes complete protein.
DQ894243 - Synthetic construct Homo sapiens clone IMAGE:100008703; FLH168970.01L; RZPDo839F0293D chemokine (C-X3-C motif) receptor 1 (CX3CR1) gene, encodes complete protein.
BC017855 - Homo sapiens cDNA clone IMAGE:4695076, with apparent retained intron.
JD470129 - Sequence 451153 from Patent EP1572962.
MA614456 - JP 2018138019-A/186382: Polycomb-Associated Non-Coding RNAs.
MB143803 - JP 2019515670-A/14: METHODS FOR MONITORING AND TREATING CANCER.
MB423132 - JP 2019521641-A/19: METHODS FOR MONITORING AND TREATING CANCER.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P49238 (Reactome details) participates in the following event(s):

R-HSA-373342 CX3CR1 binds CX3CL1
R-HSA-749454 The Ligand:GPCR:Gi complex dissociates
R-HSA-749456 Liganded Gi-activating GPCRs bind inactive heterotrimeric G-protein Gi
R-HSA-380073 Liganded Gi-activating GPCR acts as a GEF for Gi
R-HSA-380108 Chemokine receptors bind chemokines
R-HSA-418594 G alpha (i) signalling events
R-HSA-375276 Peptide ligand-binding receptors
R-HSA-388396 GPCR downstream signalling
R-HSA-373076 Class A/1 (Rhodopsin-like receptors)
R-HSA-372790 Signaling by GPCR
R-HSA-500792 GPCR ligand binding
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: A0N0N6, B2R5Z4, CMKBRL1 , CX3C1_HUMAN, CX3CR1 , ENST00000399220.1, ENST00000399220.2, GPR13, J3KP17, NM_001337, P49238, uc319aff.1, uc319aff.2
UCSC ID: ENST00000399220.3_13
RefSeq Accession: NM_001337.4
Protein: P49238 (aka CX3C1_HUMAN or C3X1_HUMAN)

-  Gene Model Information
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.