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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]
CX3CR1 (C-X3-C Motif Chemokine Receptor 1) is a Protein Coding gene. Diseases associated with CX3CR1 include Macular Degeneration, Age-Related, 12 and Human Immunodeficiency Virus Type 1. Among its related pathways are Signaling by GPCR and Akt Signaling. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and chemokine receptor activity. An important paralog of this gene is CCR4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004896 | cytokine receptor activity | IEA | -- |
GO:0004930 | G protein-coupled receptor activity | ISS | -- |
GO:0004950 | chemokine receptor activity | IEA,TAS | 10754298 |
GO:0005515 | protein binding | IPI | 9931005 |
GO:0008528 | G protein-coupled peptide receptor activity | TAS | 24352739 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | TAS | 9390561 |
GO:0009897 | external side of plasma membrane | IBA | 21873635 |
GO:0009986 | cell surface | IEA,TAS | 24352739 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Peptide ligand-binding receptors |
.34
|
|
2 | Chemokine Superfamily: Human/Mouse Ligand-Receptor Interactions | ||
3 | Akt Signaling |
Akt Signaling
.60
p38 Signaling
.60
|
Tec Kinases Signaling
.55
|
4 | CCR5 Pathway in Macrophages |
Chemokine Signaling
.33
|
|
5 | PEDF Induced Signaling |
STAT3 Pathway
.47
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002052 | positive regulation of neuroblast proliferation | IEA,ISS | -- |
GO:0002931 | response to ischemia | IEA,ISS | -- |
GO:0006935 | chemotaxis | IGI | 16019082 |
GO:0006955 | immune response | IBA | 21873635 |
GO:0006968 | cellular defense response | TAS | 10754298 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CX3CR1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CX3CR1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CX3CR1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Cx3cr1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cx3cr1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | CX3CR1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CX3CR1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CX3CR1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CX3CR1 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
721250 | Benign: not provided | 39,266,054(-) | G/A | SYNONYMOUS_VARIANT | |
721354 | Likely Benign: not provided | 39,265,934(-) | A/G | SYNONYMOUS_VARIANT | |
750552 | Likely Benign: not provided | 39,266,175(-) | C/G | MISSENSE_VARIANT | |
764930 | Likely Benign: not provided | 39,265,685(-) | G/A | SYNONYMOUS_VARIANT | |
773131 | Benign: not provided | 39,266,471(-) | C/A | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
macular degeneration, age-related, 12 |
|
|
human immunodeficiency virus type 1 |
|
|
coronary heart disease 1 |
|
|
cerebrovascular disease |
|
|
retinal vasculitis |
|
|