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Granulocyte colony-stimulating factor receptor

Protein-coding gene in the species Homo sapiens

Summary

Protein-coding gene in the species Homo sapiens

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. G-CSF-R is a cell-surface receptor for the granulocyte colony-stimulating factor (G-CSF). 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, and colony-stimulating.

Clinical significance

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

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

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.

Interactions

Granulocyte colony-stimulating factor receptor has been shown to interact with Grb2, HCK and SHC1.

References

(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.
"Entrez Gene: CSF3R colony stimulating factor 3 receptor (granulocyte)".
(May 2014). "Alternatively spliced, truncated GCSF receptor promotes leukemogenic properties and sensitivity to JAK inhibition". Leukemia.
(April 2002). "Kostmann syndrome and severe congenital neutropenia". Semin. Hematol..
(June 2010). "G-CSF and its receptor in myeloid malignancy". Blood.
(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..
(November 1998). "Direct binding of Shc, Grb2, SHP-2 and p40 to the murine granulocyte colony-stimulating factor receptor". Biochim. Biophys. Acta.
(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..

Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

clusters-of-differentiation type-i-cytokine-receptors

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