CSF3R
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Colony stimulating factor 3 receptor (granulocyte) | |||||||||||||
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PDB rendering based on 2d9q. | |||||||||||||
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Identifiers | |||||||||||||
Symbols | CSF3R ; CD114; GCSFR | ||||||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 601 | ||||||||||||
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RNA expression pattern | |||||||||||||
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Species | Human | Mouse | |||||||||||
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Colony stimulating factor 3 receptor (granulocyte), also known as CSF3R, is a human gene.
The protein encoded by this gene is the receptor for colony stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of cytokine receptors, may also function in some cell surface adhesion or recognition processes. Four transcript variants encoding four different isoforms have been found for this gene, with three of the isoforms being membrane-bound and the other being secreted and soluble. Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia.[1]
References
Further reading
- Tsuji K, Ebihara Y (2002). "Expression of G-CSF receptor on myeloid progenitors". Leuk. Lymphoma. 42 (6): 1351–7. PMID 11911419.
- Kimura A, Sultana TA (2005). "Granulocyte colony-stimulating factor receptors on CD34++ cells in patients with myelodysplastic syndrome (MDS) and MDS-acute myeloid leukemia". Leuk. Lymphoma. 45 (10): 1995–2000. doi:10.1080/10428190410001714034. PMID 15370243.
- Tweardy DJ, Anderson K, Cannizzaro LA; et al. (1992). "Molecular cloning of cDNAs for the human granulocyte colony-stimulating factor receptor from HL-60 and mapping of the gene to chromosome region 1p32-34". Blood. 79 (5): 1148–54. PMID 1371413.
- Seto Y, Fukunaga R, Nagata S (1992). "Chromosomal gene organization of the human granulocyte colony-stimulating factor receptor". J. Immunol. 148 (1): 259–66. PMID 1530796.
- Fukunaga R, Seto Y, Mizushima S, Nagata S (1991). "Three different mRNAs encoding human granulocyte colony-stimulating factor receptor". Proc. Natl. Acad. Sci. U.S.A. 87 (22): 8702–6. PMID 1701053.
- Fukunaga R, Ishizaka-Ikeda E, Pan CX; et al. (1991). "Functional domains of the granulocyte colony-stimulating factor receptor". EMBO J. 10 (10): 2855–65. PMID 1717255.
- Inazawa J, Fukunaga R, Seto Y; et al. (1991). "Assignment of the human granulocyte colony-stimulating factor receptor gene (CSF3R) to chromosome 1 at region p35-p34.3". Genomics. 10 (4): 1075–8. PMID 1833306.
- Larsen A, Davis T, Curtis BM; et al. (1991). "Expression cloning of a human granulocyte colony-stimulating factor receptor: a structural mosaic of hematopoietin receptor, immunoglobulin, and fibronectin domains". J. Exp. Med. 172 (6): 1559–70. PMID 2147944.
- Uzumaki H, Okabe T, Sasaki N; et al. (1990). "Identification and characterization of receptors for granulocyte colony-stimulating factor on human placenta and trophoblastic cells". Proc. Natl. Acad. Sci. U.S.A. 86 (23): 9323–6. PMID 2480598.
- Nicholson SE, Oates AC, Harpur AG; et al. (1994). "Tyrosine kinase JAK1 is associated with the granulocyte-colony-stimulating factor receptor and both become tyrosine-phosphorylated after receptor activation". Proc. Natl. Acad. Sci. U.S.A. 91 (8): 2985–8. PMID 7512720.
- Dong F, Hoefsloot LH, Schelen AM; et al. (1994). "Identification of a nonsense mutation in the granulocyte-colony-stimulating factor receptor in severe congenital neutropenia". Proc. Natl. Acad. Sci. U.S.A. 91 (10): 4480–4. PMID 7514305.
- Dong F, Brynes RK, Tidow N; et al. (1995). "Mutations in the gene for the granulocyte colony-stimulating-factor receptor in patients with acute myeloid leukemia preceded by severe congenital neutropenia". N. Engl. J. Med. 333 (8): 487–93. PMID 7542747.
- Shimoda K, Okamura S, Harada N; et al. (1993). "Identification of a functional receptor for granulocyte colony-stimulating factor on platelets". J. Clin. Invest. 91 (4): 1310–3. PMID 7682568.
- Zhao Y, Wagner F, Frank SJ, Kraft AS (1995). "The amino-terminal portion of the JAK2 protein kinase is necessary for binding and phosphorylation of the granulocyte-macrophage colony-stimulating factor receptor beta c chain". J. Biol. Chem. 270 (23): 13814–8. PMID 7775438.
- Corey SJ, Burkhardt AL, Bolen JB; et al. (1994). "Granulocyte colony-stimulating factor receptor signaling involves the formation of a three-component complex with Lyn and Syk protein-tyrosine kinases". Proc. Natl. Acad. Sci. U.S.A. 91 (11): 4683–7. PMID 8197119.
- Haniu M, Horan T, Arakawa T; et al. (1996). "Extracellular domain of granulocyte-colony stimulating factor receptor. Interaction with its ligand and identification of a domain in close proximity of ligand-binding region". Arch. Biochem. Biophys. 324 (2): 344–56. doi:10.1006/abbi.1995.0047. PMID 8554326.
- Horan T, Wen J, Narhi L; et al. (1996). "Dimerization of the extracellular domain of granuloycte-colony stimulating factor receptor by ligand binding: a monovalent ligand induces 2:2 complexes". Biochemistry. 35 (15): 4886–96. doi:10.1021/bi9525841. PMID 8664280.
- McCracken S, Layton JE, Shorter SC; et al. (1996). "Expression of granulocyte-colony stimulating factor and its receptor is regulated during the development of the human placenta". J. Endocrinol. 149 (2): 249–58. PMID 8708536.
- Haniu M, Horan T, Arakawa T; et al. (1996). "Disulfide structure and N-glycosylation sites of an extracellular domain of granulocyte-colony stimulating factor receptor". Biochemistry. 35 (40): 13040–6. doi:10.1021/bi960213u. PMID 8855939.
- Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. PMID 8889548.
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