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CX3C motif chemokine receptor 1

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CX3CR1
Identifiers
AliasesCX3CR1, CCRL1, CMKBRL1, CMKDR1, GPR13, GPRV28, V28, C-X3-C motif chemokine receptor 1
External IDsOMIM: 601470; MGI: 1333815; HomoloGene: 20350; GeneCards: CX3CR1; OMA:CX3CR1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

1524

13051

Ensembl

ENSG00000168329

ENSMUSG00000052336

UniProt

P49238

Q9Z0D9

RefSeq (mRNA)

NM_001337
NM_001171171
NM_001171172
NM_001171174

NM_009987

RefSeq (protein)

NP_001164642
NP_001164643
NP_001164645
NP_001328

NP_034117

Location (UCSC)Chr 3: 39.26 – 39.28 MbChr 9: 119.73 – 119.9 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

CX3C chemokine receptor 1 (CX3CR1) also known as the fractalkine receptor or G-protein coupled receptor 13 (GPR13) is a protein that in humans is encoded by the CX3CR1 gene.[5][6] As the name suggests, this receptor binds the chemokine CX3CL1 (also called neurotactin or fractalkine).

Function

The fractalkine ligand CX3CL1 is a transmembrane protein and chemokine involved in the adhesion and migration of leukocytes. The protein encoded by the CX3CR1 gene is a receptor for the fractalkine ligand.[7]

Expression of this receptor appears to be associated with lymphocytes.[8] CX3CR1 is also expressed by monocytes and plays a major role in the survival of monocytes.[9]

Fractalkine signaling has also recently been discovered to play a developmental role in the migration of microglia in the central nervous system to their synaptic targets, where phagocytosis and synaptic refinement occur. CX3CR1 knockout mice had more synapses on hippocampal neurons than wild-type mice.[10]

Clinical significance

CX3CR1 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.[7]

CX3CR1 variants have been described to modify the survival time and the progression rate of patients with amyotrophic lateral sclerosis.[11]

Mutations in CX3CR1 are associated to dysplasia of the hip.[12] Homozygous CX3CR1-M280 mutation impairs human monocyte survival and deteriorates outcome of human systemic candiasis.[13]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000168329 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000052336 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Combadiere C, Ahuja SK, Murphy PM (August 1995). "Cloning, chromosomal localization, and RNA expression of a human beta chemokine receptor-like gene". DNA and Cell Biology. 14 (8): 673–80. doi:10.1089/dna.1995.14.673. PMID 7646814.
  6. ^ Combadiere C, Salzwedel K, Smith ED, Tiffany HL, Berger EA, Murphy PM (September 1998). "Identification of CX3CR1. A chemotactic receptor for the human CX3C chemokine fractalkine and a fusion coreceptor for HIV-1". The Journal of Biological Chemistry. 273 (37): 23799–804. doi:10.1074/jbc.273.37.23799. PMID 9726990.
  7. ^ a b "Entrez Gene: chemokine (C-X3-C motif) receptor 1".
  8. ^ Imai T, Hieshima K, Haskell C, Baba M, Nagira M, Nishimura M, Kakizaki M, Takagi S, Nomiyama H, Schall TJ, Yoshie O (November 1997). "Identification and molecular characterization of fractalkine receptor CX3CR1, which mediates both leukocyte migration and adhesion". Cell. 91 (4): 521–30. doi:10.1016/S0092-8674(00)80438-9. PMID 9390561.
  9. ^ Landsman L, Bar-On L, Zernecke A, Kim KW, Krauthgamer R, Shagdarsuren E, Lira SA, Weissman IL, Weber C, Jung S (January 2009). "CX3CR1 is required for monocyte homeostasis and atherogenesis by promoting cell survival". Blood. 113 (4): 963–72. doi:10.1182/blood-2008-07-170787. PMID 18971423.
  10. ^ Paolicelli RC, Bolasco G, Pagani F, Maggi L, Scianni M, Panzanelli P, Giustetto M, Ferreira TA, Guiducci E, Dumas L, Ragozzino D, Gross CT (September 2011). "Synaptic pruning by microglia is necessary for normal brain development". Science. 333 (6048): 1456–8. doi:10.1126/science.1202529. PMID 21778362.
  11. ^ Lopez-Lopez A, Gamez J, Syriani E, Morales M, Salvado M, Rodríguez MJ, Mahy N, Vidal-Taboada JM (7 May 2014). "CX3CR1 is a modifying gene of survival and progression in amyotrophic lateral sclerosis". PLOS ONE. 9 (5): e96528. doi:10.1371/journal.pone.0096528. PMC 4013026. PMID 24806473.{{cite journal}}: CS1 maint: unflagged free DOI (link)
  12. ^ Feldman GJ, Parvizi J, Sawan H, Erickson JA, Peters CL (September 2014). "Linkage mapping and whole exome sequencing identify a shared variant in CX3CR1 in a large multi-generation family". The Journal of Arthroplasty. 29 (9 Suppl): 238–41. doi:10.1016/j.arth.2014.05.014. PMID 24998320.
  13. ^ Collar AL, Swamydas M, O'Hayre M, Sajib MS, Hoffman KW, Singh SP, et al. (February 2018). "The homozygous CX3CR1-M280 mutation impairs human monocyte survival". JCI Insight. 3 (3). doi:10.1172/jci.insight.95417. PMC 5821174. PMID 29415879.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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