Granulocyte colony-stimulating factor receptor

CSF3R
Available structures
PDB	Ortholog search: PDBe RCSB
showList 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
showGene location (Human)
Chr.	Chromosome 1 (human)
End	36,483,278 bp
showGene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	125,938,233 bp
showRNA expression pattern
	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
	More reference expression data
showGene 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
hideOrthologs
	1441
	12986
	ENSG00000119535
	ENSMUSG00000028859
	Q99062
	P40223
	NM_000760; NM_156038; NM_156039; NM_172313
	NM_001252651; NM_007782
	NP_000751; NP_724781; NP_758519
	NP_001239580; NP_031808
	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]

References

^ Jump up to: ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000119535 – Ensembl, May 2017
^ Jump up to: ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000028859 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ "Entrez Gene: CSF3R colony stimulating factor 3 receptor (granulocyte)".
^ 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.
^ 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.
^ 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.
^ 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.
^ Jump up to: ^a ^b 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.
^ 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. doi:10.1006/bbrc.1998.9441. PMID 9790917.

External links

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

[refGRCh38Ensembl-1] Jump up to: ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000119535 – Ensembl, May 2017

[refGRCm38Ensembl-2] Jump up to: ^a ^b ^c 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.

[pmid1371413-5] 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.

[entrez-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.

[pmid11957189-8] 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.

[pmid20237318-9] 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.

[pmid20406937-10] 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.

[pmid9824671-11] Jump up to: ^a ^b 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.

[pmid9790917-12] 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. doi:10.1006/bbrc.1998.9441. PMID 9790917.

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v t e Proteins: clusters of differentiation (see also list of human clusters of differentiation)
1–50	CD1 a-c 1A 1B 1D 1E CD2 CD3 γ δ ε CD4 CD5 CD6 CD7 CD8 a CD9 CD10 CD11 a b c d CD13 CD14 CD15 CD16 A B CD18 CD19 CD20 CD21 CD22 CD23 CD24 CD25 CD26 CD27 CD28 CD29 CD30 CD31 CD32 A B CD33 CD34 CD35 CD36 CD37 CD38 CD39 CD40 CD41 CD42 a b c d CD43 CD44 CD45 CD46 CD47 CD48 CD49 a b c d e f CD50
51–100	CD51 CD52 CD53 CD54 CD55 CD56 CD57 CD58 CD59 CD61 CD62 E L P CD63 CD64 A B C CD66 a b c d e f CD68 CD69 CD70 CD71 CD72 CD73 CD74 CD78 CD79 a b CD80 CD81 CD82 CD83 CD84 CD85 a d e h j k CD86 CD87 CD88 CD89 CD90 CD91 - CD92 CD93 CD94 CD95 CD96 CD97 CD98 CD99 CD100
101–150	CD101 CD102 CD103 CD104 CD105 CD106 CD107 a b CD108 CD109 CD110 CD111 CD112 CD113 CD114 CD115 CD116 CD117 CD118 CD119 CD120 a b CD121 a b CD122 CD123 CD124 CD125 CD126 CD127 CD129 CD130 CD131 CD132 CD133 CD134 CD135 CD136 CD137 CD138 CD140b CD141 CD142 CD143 CD144 CD146 CD147 CD148 CD150
151–200	CD151 CD152 CD153 CD154 CD155 CD156 a b c CD157 CD158 (a d e i k) CD159 a c CD160 CD161 CD162 CD163 CD164 CD166 CD167 a b CD168 CD169 CD170 CD171 CD172 a b g CD174 CD177 CD178 CD179 a b CD180 CD181 CD182 CD183 CD184 CD185 CD186 CD191 CD192 CD193 CD194 CD195 CD196 CD197 CDw198 CDw199 CD200
201–250	CD201 CD202b CD204 CD205 CD206 CD207 CD208 CD209 CDw210 a b CD212 CD213a 1 2 CD217 CD218 (a b) CD220 CD221 CD222 CD223 CD224 CD225 CD226 CD227 CD228 CD229 CD230 CD233 CD234 CD235 a b CD236 CD238 CD239 CD240CE CD240D CD241 CD243 CD244 CD246 CD247 - CD248 CD249
251–300	CD252 CD253 CD254 CD256 CD257 CD258 CD261 CD262 CD263 CD264 CD265 CD266 CD267 CD268 CD269 CD271 CD272 CD273 CD274 CD275 CD276 CD278 CD279 CD280 CD281 CD282 CD283 CD284 CD286 CD288 CD289 CD290 CD292 CDw293 CD294 CD295 CD297 CD298 CD299
301–350	CD300A CD301 CD302 CD303 CD304 CD305 CD306 CD307 CD309 CD312 CD314 CD315 CD316 CD317 CD318 CD320 CD321 CD322 CD324 CD325 CD326 CD327 CD328 CD329 CD331 CD332 CD333 CD334 CD335 CD336 CD337 CD338 CD339 CD340 CD344 CD349 CD350