Colony stimulating factor 1 receptor

Colony stimulating factor 1 receptor
Rendering based on PDB 2I0V.
Available structures PDB 2I0V, 2I0Y, 2I1M, 2OGV, 3BEA, 3DPK, 3LCD, 3LCO
Identifiers
Symbols	CSF1R; C-FMS; CD115; CSFR; FIM2; FMS
External IDs	OMIM: 164770 MGI: 1339758 HomoloGene: 3817 GeneCards: CSF1R Gene
EC number	2.7.10.1
Gene Ontology Molecular function • nucleotide binding • receptor activity • macrophage colony-stimulating factor receptor activity • ATP binding • cytokine binding • protein homodimerization activity Cellular component • plasma membrane • integral to plasma membrane • receptor complex Biological process • signal transduction • transmembrane receptor protein tyrosine kinase signaling pathway • multicellular organismal development • cell proliferation Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	1436	12978
Ensembl	ENSG00000182578	ENSMUSG00000024621
UniProt	P07333	Q0P635
RefSeq (mRNA)	NM_005211	NM_001037859.2
RefSeq (protein)	NP_005202	NP_001032948.2
Location (UCSC)	Chr 5: 149.43 – 149.49 Mb	Chr 18: 61.27 – 61.29 Mb
PubMed search	[1]	[2]

Colony stimulating factor 1 receptor (CSF1R), also known as macrophage colony-stimulating factor receptor (M-CSFR), and CD115 (Cluster of Differentiation 115), is a cell-surface protein encoded, in humans, by the CSF1R gene.^[1][2] It is a receptor for a cytokine called colony stimulating factor 1.

Function

The protein encoded by the CSFR1 gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most, if not all, of the biological effects of this cytokine. Ligand binding activates CSFR1 through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. The first intron of the CSFR1 gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene, oriented in the opposite direction to the CSFR1 gene.^[1]

Clinical significance

Mutations in CSF1R are associated with chronic myelomonocytic leukemia and type M4 acute myeloblastic leukemia.^[3] Increased levels of CSF1R1 are found in microglia in Alzheimer's disease and after brain injuries. The increased receptor expression causes microglia to become more active.^[4] Both CSF1R, and its ligand colony stimulating factor 1 play an important role in the development of the mammary gland and may be involved in the process of mammary gland carcinogenesis.^[5][6][7]

Interactions

Colony stimulating factor 1 receptor has been shown to interact with FYN,^[8] Suppressor of cytokine signaling 1,^[9] Grb2^[10] and Cbl gene.^[11]

See also

• Cluster of differentiation

References

1. ^ ^{a b} EntrezGene 1436
2. ^ Galland, F.; Stefanova, M.; Lafage, M.; Birnbaum, D. (1992). "Localization of the 5' end of the MCF2 oncogene to human chromosome 15ql5→q23". Cytogenetic and Genome Research 60 (2): 114–6. doi:10.1159/000133316. PMID 1611909. 
3. ^ Ridge, Susan A.; Worwood, Mark; Oscier, David; Jacobs, Allan; Padua, Rose Ann (1990). "FMS Mutations in Myelodysplastic, Leukemic, and Normal Subjects". Proceedings of the National Academy of Sciences 87 (4): 1377–80. doi:10.1073/pnas.87.4.1377. JSTOR 2353838. PMC 53478. PMID 2406720. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=53478. 
4. ^ Mitrasinovic, O. M.; Grattan, A; Robinson, CC; Lapustea, NB; Poon, C; Ryan, H; Phong, C; Murphy Jr, GM (2005). "Microglia Overexpressing the Macrophage Colony-Stimulating Factor Receptor Are Neuroprotective in a Microglial-Hippocampal Organotypic Coculture System". Journal of Neuroscience 25 (17): 4442–51. doi:10.1523/JNEUROSCI.0514-05.2005. PMID 15858070. 
5. ^ Tamimi, R. M.; Brugge, J. S.; Freedman, M. L.; Miron, A.; Iglehart, J. D.; Colditz, G. A.; Hankinson, S. E. (2008). "Circulating Colony Stimulating Factor-1 and Breast Cancer Risk". Cancer Research 68 (1): 18–21. doi:10.1158/0008-5472.CAN-07-3234. PMC 2821592. PMID 18172291. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2821592. 
6. ^ Pollard, J. W.; Hennighausen, L (1994). "Colony Stimulating Factor 1 is Required for Mammary Gland Development During Pregnancy". Proceedings of the National Academy of Sciences 91 (20): 9312–6. doi:10.1073/pnas.91.20.9312. PMC 44802. PMID 7937762. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=44802. 
7. ^ Sapi, Eva (2004). "The Role of CSF-1 in Normal Physiology of Mammary Gland and Breast Cancer: An Update". Experimental Biology and Medicine 229 (1): 1–11. PMID 14709771. http://ebm.rsmjournals.com/cgi/content/full/229/1/1. 
8. ^ Courtneidge, SA; Dhand, R; Pilat, D; Twamley, GM; Waterfield, MD; Roussel, MF (1993). "Activation of Src family kinases by colony stimulating factor-1, and their association with its receptor". The EMBO journal 12 (3): 943–50. PMC 413295. PMID 7681396. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=413295. 
9. ^ Bourette, R. P.; De Sepulveda, P; Arnaud, S; Dubreuil, P; Rottapel, R; Mouchiroud, G (2001). "Suppressor of Cytokine Signaling 1 Interacts with the Macrophage Colony-stimulating Factor Receptor and Negatively Regulates Its Proliferation Signal". Journal of Biological Chemistry 276 (25): 22133–9. doi:10.1074/jbc.M101878200. PMID 11297560. 
10. ^ Mancini, Annalisa; Niedenthal, Rainer; Joos, Hans; Koch, Alexandra; Trouliaris, Sylvia; Niemann, Heiner; Tamura, Teruko (1997). "Identification of a second Grb2 binding site in the v-Fms tyrosine kinase". Oncogene 15 (13): 1565–72. doi:10.1038/sj.onc.1201518. PMID 9380408. 
11. ^ Mancini, A.; Koch, A; Wilms, R; Tamura, T (2002). "C-Cbl Associates Directly with the C-terminal Tail of the Receptor for the Macrophage Colony-stimulating Factor, c-Fms, and Down-modulates This Receptor but Not the Viral Oncogene v-Fms". Journal of Biological Chemistry 277 (17): 14635–40. doi:10.1074/jbc.M109214200. PMID 11847211. 

Further reading

• Rettenmier, CW; Roussel, MF; Sherr, CJ (1988). "The colony-stimulating factor 1 (CSF-1) receptor (c-fms proto-oncogene product) and its ligand". Journal of cell science. Supplement 9: 27–44. PMID 2978516. 
• Stanley, E. Richard; Berg, Karen L.; Einstein, Douglas B.; Lee, Pierre S.W.; Pixley, Fiona J.; Wang, Yun; Yeung, Yee-Guide (1997). "Biology and action of colony-stimulating factor-1". Molecular Reproduction and Development 46 (1): 4–10. doi:10.1002/(SICI)1098-2795(199701)46:1<4::AID-MRD2>3.0.CO;2-V. PMID 8981357. 
• Gout, I; Dhand, R; Panayotou, G; Fry, MJ; Hiles, I; Otsu, M; Waterfield, MD (1992). "Expression and characterization of the p85 subunit of the phosphatidylinositol 3-kinase complex and a related p85 beta protein by using the baculovirus expression system". The Biochemical journal 288 (Pt 2): 395–405. PMC 1132024. PMID 1334406. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1132024. 
• Galland, F.; Stefanova, M.; Lafage, M.; Birnbaum, D. (1992). "Localization of the 5' end of the MCF2 oncogene to human chromosome 15ql5→q23". Cytogenetic and Genome Research 60 (2): 114–6. doi:10.1159/000133316. PMID 1611909. 
• Boultwood, J.; Rack, K; Kelly, S; Madden, J; Sakaguchi, AY; Wang, LM; Oscier, DG; Buckle, VJ et al. (1991). "Loss of Both CSF1R (FMS) Alleles in Patients with Myelodysplasia and a Chromosome 5 Deletion". Proceedings of the National Academy of Sciences 88 (14): 6176–80. doi:10.1073/pnas.88.14.6176. JSTOR 2357461. PMC 52045. PMID 1829836. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=52045. 
• Roussel, Marline F.; Cleveland, John L.; Shurtleff, Sheila A.; Sherr, Charles J. (1991). "Myc rescue of a mutant CSF-1 receptor impaired in mitogenic signalling". Nature 353 (6342): 361–3. doi:10.1038/353361a0. PMID 1833648. 
• Reedijk, M; Liu, XQ; Pawson, T (1990). "Interactions of phosphatidylinositol kinase, GTPase-activating protein (GAP), and GAP-associated proteins with the colony-stimulating factor 1 receptor". Molecular and cellular biology 10 (11): 5601–8. PMC 361316. PMID 2172781. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=361316. 
• Ridge, Susan A.; Worwood, Mark; Oscier, David; Jacobs, Allan; Padua, Rose Ann (1990). "FMS Mutations in Myelodysplastic, Leukemic, and Normal Subjects". Proceedings of the National Academy of Sciences 87 (4): 1377–80. doi:10.1073/pnas.87.4.1377. JSTOR 2353838. PMC 53478. PMID 2406720. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=53478. 
• Sherr, C; Rettenmier, C; Sacca, R; Roussel, M; Look, A; Stanley, E (1985). "The c-fms proto-oncogene product is related to the receptor for the mononuclear phagocyte growth factor, CSF 1". Cell 41 (3): 665–76. doi:10.1016/S0092-8674(85)80047-7. PMID 2408759. 
• Coussens, Lisa; Van Beveren, Charles; Smith, Douglas; Chen, Ellson; Mitchell, Richard L.; Isacke, Clare M.; Verma, Inder M.; Ullrich, Axel (1986). "Structural alteration of viral homologue of receptor proto-oncogene fms at carboxyl terminus". Nature 320 (6059): 277–80. doi:10.1038/320277a0. PMID 2421165. 
• Hampe, A; Shamoon, BM; Gobet, M; Sherr, CJ; Galibert, F (1989). "Nucleotide sequence and structural organization of the human FMS proto-oncogene". Oncogene research 4 (1): 9–17. PMID 2524025. 
• Visvader, J; Verma, IM (1989). "Differential transcription of exon 1 of the human c-fms gene in placental trophoblasts and monocytes". Molecular and cellular biology 9 (3): 1336–41. PMC 362728. PMID 2524648. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=362728. 
• Roberts, W.Mark; Look, A.Thomas; Roussel, Martine F.; Sherr, Charles J. (1988). "Tandem linkage of human CSF-1 receptor (c-fms) and PDGF receptor genes". Cell 55 (4): 655–61. doi:10.1016/0092-8674(88)90224-3. PMID 2846185. 
• Xu, D. Q.; Guilhot, S; Galibert, F (1985). "Restriction Fragment Length Polymorphism of the Human C-Fms Gene". Proceedings of the National Academy of Sciences 82 (9): 2862–5. doi:10.1073/pnas.82.9.2862. JSTOR 25278. PMC 397666. PMID 2986142. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=397666. 
• Sherr, CJ; Rettenmier, CW (1986). "The fms gene and the CSF-1 receptor". Cancer surveys 5 (2): 221–32. PMID 3022923. 
• Le Beau, M.; Westbrook, C.; Diaz, M.; Larson, R.; Rowley, J.; Gasson, J.; Golde, D.; Sherr, C. (1986). "Evidence for the involvement of GM-CSF and FMS in the deletion (5q) in myeloid disorders". Science 231 (4741): 984–7. doi:10.1126/science.3484837. PMID 3484837. 
• Wheeler, EF; Roussel, MF; Hampe, A; Walker, MH; Fried, VA; Look, AT; Rettenmier, CW; Sherr, CJ (1986). "The amino-terminal domain of the v-fms oncogene product includes a functional signal peptide that directs synthesis of a transforming glycoprotein in the absence of feline leukemia virus gag sequences". Journal of virology 59 (2): 224–33. PMC 253070. PMID 3525854. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=253070. 
• Browning, P. J.; Bunn, HF; Cline, A; Shuman, M; Nienhuis, AW (1986). "'Replacement' of COOH-Terminal Truncation of v-fms with c-fms Sequences Markedly Reduces Transformation Potential". Proceedings of the National Academy of Sciences 83 (20): 7800–4. doi:10.1073/pnas.83.20.7800. JSTOR 28182. PMC 386809. PMID 3532121. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=386809. 
• Verbeek, JS; Roebroek, AJ; Van Den Ouweland, AM; Bloemers, HP; Van De Ven, WJ (1985). "Human c-fms proto-oncogene: Comparative analysis with an abnormal allele". Molecular and cellular biology 5 (2): 422–6. PMC 366728. PMID 3974576. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=366728. 
• Lee, A. W.; Nienhuis, AW (1990). "Mechanism of Kinase Activation in the Receptor for Colony-Stimulating Factor 1". Proceedings of the National Academy of Sciences 87 (18): 7270–4. doi:10.1073/pnas.87.18.7270. PMC 54725. PMID 2169623. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=54725. 

External links

• MeSH CSF1R+protein,+human

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

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