Granulocyte colony-stimulating factor receptor

CSF3R
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2D9Q
Identifiers
Aliases	CSF3R , CD114, GCSFR, colony stimulating factor 3 receptor, SCN7
External IDs	OMIM: 138971; MGI: 1339755; HomoloGene: 601; GeneCards: CSF3R; OMA:CSF3R - orthologs
Gene location (Human) Chr. Chromosome 1 (human) [1] Band 1p34.3 Start 36,466,043 bp [1] End 36,483,278 bp [1]
Gene location (Mouse) Chr. Chromosome 4 (mouse) [2] Band 4 D2.2|4 59.77 cM Start 125,918,343 bp [2] End 125,938,233 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in granulocyte monocyte blood upper lobe of left lung right lung spleen bone marrow cells placenta lower lobe of lung trabecular bone Top expressed in granulocyte tibiofemoral joint blood blastocyst bone marrow morula stroma of bone marrow spleen mesenteric lymph nodes right lung More reference expression data BioGPS More reference expression data
Gene ontology Molecular function cytokine receptor activity protein binding granulocyte colony-stimulating factor binding signaling receptor activity interleukin-3 receptor activity cytokine binding interleukin-3 binding Cellular component integral component of membrane extracellular region integral component of plasma membrane membrane plasma membrane external side of plasma membrane receptor complex Biological process defense response cell adhesion regulation of myeloid cell differentiation neutrophil chemotaxis signal transduction amelogenesis cytokine-mediated signaling pathway cellular response to interleukin-3 interleukin-3-mediated signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1441 12986 Ensembl ENSG00000119535 ENSMUSG00000028859 UniProt Q99062 P40223 RefSeq (mRNA) NM_000760 NM_156038 NM_156039 NM_172313 NM_001252651 NM_007782 RefSeq (protein) NP_000751 NP_724781 NP_758519 NP_001239580 NP_031808 Location (UCSC) Chr 1: 36.47 – 36.48 Mb Chr 4: 125.92 – 125.94 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

The granulocyte colony-stimulating factor receptor (G-CSF-R) also known as CD114 (Cluster of Differentiation 114) is a protein that in humans is encoded by the CSF3R gene. ^[5] G-CSF-R is a cell-surface receptor for the granulocyte colony-stimulating factor (G-CSF). ^[6] The G-CSF receptors belong to a family of cytokine receptors known as the hematopoietin receptor family. The granulocyte colony-stimulating factor receptor is present on precursor cells in the bone marrow, and, in response to stimulation by G-CSF, initiates cell proliferation and differentiation into mature neutrophilic granulocytes and macrophages.

The G-CSF-R is a transmembrane receptor that consists of an extracellular ligand-binding portion, a transmembrane domain, and the cytoplasmic portion that is responsible for signal transduction. GCSF-R ligand-binding is associated with dimerization of the receptor and signal transduction through proteins including Jak, Lyn, STAT, and Erk1/2.

Isoforms

The class IV isoform defective for both internalization and differentiation signaling, ^[7] and colony-stimulating.

Clinical significance

Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia. ^[8]

Mutations in the intracellular part of this receptor are also associated with certain types of leukemia. ^[9]

In clinical medicine, there is a suggestion that use of GCSF should be avoided, at least in children and adolescents and perhaps adults, when G-CSFR isoform IV is overexpressed. ^[10]

Interactions

Granulocyte colony-stimulating factor receptor has been shown to interact with Grb2, ^[11] HCK ^[12] and SHC1. ^[11]

See also

• Cluster of differentiation

References

1. GRCh38: Ensembl release 89: ENSG00000119535 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000028859 – 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. Tweardy DJ, Anderson K, Cannizzaro LA, Steinman RA, Croce CM, Huebner K (March 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. doi: 10.1182/blood.V79.5.1148.1148 . PMID   1371413.
6. "Entrez Gene: CSF3R colony stimulating factor 3 receptor (granulocyte)".
7. Mehta HM, Futami M, Glaubach T, Lee DW, Andolina JR, Yang Q, et al. (May 2014). "Alternatively spliced, truncated GCSF receptor promotes leukemogenic properties and sensitivity to JAK inhibition". Leukemia. 28 (5): 1041–1051. doi:10.1038/leu.2013.321. PMC   5875430 . PMID   24170028.
8. Zeidler C, Welte K (April 2002). "Kostmann syndrome and severe congenital neutropenia". Semin. Hematol. 39 (2): 82–8. doi:10.1053/shem.2002.31913. PMID   11957189.
9. Beekman R, Touw IP (June 2010). "G-CSF and its receptor in myeloid malignancy". Blood. 115 (25): 5131–6. doi: 10.1182/blood-2010-01-234120 . PMID   20237318.
10. Ehlers S, Herbst C, Zimmermann M, Scharn N, Germeshausen M, von Neuhoff N, et al. (May 2010). "Granulocyte colony-stimulating factor (G-CSF) treatment of childhood acute myeloid leukemias that overexpress the differentiation-defective G-CSF receptor isoform IV is associated with a higher incidence of relapse". J. Clin. Oncol. 28 (15): 2591–7. doi: 10.1200/JCO.2009.25.9010 . PMID   20406937.
11. Ward AC, Monkhouse JL, Hamilton JA, Csar XF (November 1998). "Direct binding of Shc, Grb2, SHP-2 and p40 to the murine granulocyte colony-stimulating factor receptor". Biochim. Biophys. Acta. 1448 (1): 70–6. doi: 10.1016/S0167-4889(98)00120-7 . hdl: 10536/DRO/DU:30096477 . PMID   9824671.
12. Ward AC, Monkhouse JL, Csar XF, Touw IP, Bello PA (October 1998). "The Src-like tyrosine kinase Hck is activated by granulocyte colony-stimulating factor (G-CSF) and docks to the activated G-CSF receptor". Biochem. Biophys. Res. Commun. 251 (1): 117–23. Bibcode:1998BBRC..251..117W. doi:10.1006/bbrc.1998.9441. PMID   9790917.

Further reading

• Tsuji K, Ebihara Y (2002). "Expression of G-CSF receptor on myeloid progenitors". Leuk. Lymphoma. 42 (6): 1351–7. doi:10.3109/10428190109097763. PMID   11911419. S2CID   8010177.
• 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. S2CID   36625508.
• Tweardy DJ, Anderson K, Cannizzaro LA, Steinman RA, Croce CM, Huebner K (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. doi: 10.1182/blood.V79.5.1148.1148 . 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. doi: 10.4049/jimmunol.148.1.259 . 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. doi: 10.1073/pnas.87.22.8702 . PMC   55027 . PMID   1701053.
• Fukunaga R, Ishizaka-Ikeda E, Pan CX, Seto Y, Nagata S (1991). "Functional domains of the granulocyte colony-stimulating factor receptor". EMBO J. 10 (10): 2855–65. doi:10.1002/j.1460-2075.1991.tb07835.x. PMC   452996 . PMID   1717255.
• Inazawa J, Fukunaga R, Seto Y, Nakagawa H, Misawa S, Abe T, 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. doi:10.1016/0888-7543(91)90202-P. PMID   1833306.
• Larsen A, Davis T, Curtis BM, Gimpel S, Sims JE, Cosman D, 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. doi:10.1084/jem.172.6.1559. PMC   2188748 . PMID   2147944.
• Uzumaki H, Okabe T, Sasaki N, Hagiwara K, Takaku F, Tobita M, 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. doi: 10.1073/pnas.86.23.9323 . PMC   298487 . PMID   2480598.
• Nicholson SE, Oates AC, Harpur AG, Ziemiecki A, Wilks AF, Layton JE (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. Bibcode:1994PNAS...91.2985N. doi: 10.1073/pnas.91.8.2985 . PMC   43499 . PMID   7512720.
• Dong F, Hoefsloot LH, Schelen AM, Broeders CA, Meijer Y, Veerman AJ, 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. Bibcode:1994PNAS...91.4480D. doi: 10.1073/pnas.91.10.4480 . PMC   43809 . PMID   7514305.
• Dong F, Brynes RK, Tidow N, Welte K, Löwenberg B, Touw IP (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. doi:10.1056/NEJM199508243330804. hdl: 1765/60338 . PMID   7542747.
• Shimoda K, Okamura S, Harada N, Kondo S, Okamura T, Niho Y (1993). "Identification of a functional receptor for granulocyte colony-stimulating factor on platelets". J. Clin. Invest. 91 (4): 1310–3. doi:10.1172/JCI116330. PMC   288100 . 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. doi: 10.1074/jbc.270.23.13814 . PMID   7775438.
• Corey SJ, Burkhardt AL, Bolen JB, Geahlen RL, Tkatch LS, Tweardy DJ (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. Bibcode:1994PNAS...91.4683C. doi: 10.1073/pnas.91.11.4683 . PMC   43852 . PMID   8197119.
• Haniu M, Horan T, Arakawa T, Le J, Katta V, Rohde MF (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, Parker V, Garcia A, Arakawa T, 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, Starkey PM, Barlow DH, Mardon HJ (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. doi:10.1677/joe.0.1490249. PMID   8708536.
• Haniu M, Horan T, Arakawa T, Le J, Katta V, Hara S, 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. doi: 10.1101/gr.6.9.791 . PMID   8889548.

External links

• CSF3R+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)