From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
The granulocyte colony-stimulating factor receptor (G-CSF-R ) also known as CD114 (C luster of D ifferentiation 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
References
^
a
b
c
GRCh38: Ensembl release 89: ENSG00000119535 –
Ensembl , May 2017
^
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, Whichard Z, Quinn M, Lu HF (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 .
ISSN
1476-5551 .
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, Zwaan CM, Reinhardt K, Hollink IH, Klusmann JH, Lehrnbecher T, Roettgers S, Stary J, Dworzak M, Welte K, Creutzig U, Reinhardt D (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 .
^
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 .
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, Nagata S (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, Park L, Sorensen E, March CJ, Smith CA (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, Yasukawa K, Ito S, Umezawa Y (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, Touw IP, Löwenberg B (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, Philo J (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, Rohde MF (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 .
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See IL-28R (IFNLR)
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