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MGP000738

UniProt Annotations

Entry Information
Gene Namechemokine (C-X3-C motif) receptor 1
Protein EntryCX3C1_HUMAN
UniProt IDP49238
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=1; IsoId=P49238-1; Sequence=Displayed; Name=2; IsoId=P49238-2; Sequence=VSP_009681; Name=3; IsoId=P49238-3; Sequence=VSP_009682; Name=4; IsoId=P49238-4; Sequence=VSP_044595; Note=Ref.4 (DA413545) sequence is in conflict in position: 8:F->L. No experimental confirmation available. {ECO:0000305};
DiseaseMacular 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.
FunctionReceptor 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.
PolymorphismVariations 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.
SimilarityBelongs to the G-protein coupled receptor 1 family. {ECO:0000255|PROSITE-ProRule:PRU00521}.
Subcellular LocationCell membrane; Multi-pass membrane protein.
SubunitInteracts with human respiratory syncytial virus (HRSV) protein G; this interaction modulates host immune response. Interacts with HIV-1 envelope polyprotein gp160. {ECO:0000269|PubMed:11477410}.
Tissue SpecificityExpressed in lymphoid and neural tissues.
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/cx3cr1/";
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