CX3CR1: 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. Defects in CX3CR1 are a cause of susceptibility to age- related macular degeneration type 12 (ARMD12). 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. Belongs to the G-protein coupled receptor 1 family. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, multi-pass; Receptor, cytokine; Motility/polarity/chemotaxis; Cell adhesion; Membrane protein, integral; GPCR, family 1; Receptor, GPCR
Chromosomal Location of Human Ortholog: 3p21.3
Cellular Component: neuron projection; integral to plasma membrane; perinuclear region of cytoplasm; plasma membrane
Molecular Function: protein binding; chemokine receptor activity; C-X3-C chemokine receptor activity
Biological Process: G-protein coupled receptor protein signaling pathway; positive regulation of angiogenesis; negative regulation of angiogenesis; cerebral cortex cell migration; viral reproduction; response to wounding; cellular defense response; chemotaxis; cell adhesion; macrophage chemotaxis; negative regulation of cell migration; microglial cell activation during immune response
Disease: Macular Degeneration, Age-related, 12; Coronary Heart Disease, Susceptibility To, 1; Human Immunodeficiency Virus Type 1, Susceptibility To
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