Granulocyte colony-stimulating factor receptor

CSF3R
Identifiers
AliasesCSF3R, CD114, GCSFR, colony stimulating factor 3 receptor, SCN7
External IDsOMIM: 138971; MGI: 1339755; GeneCards: CSF3R
Available structures
PDBOrtholog search: PDBe RCSB
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
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 MbChr 4: 125.92 – 125.94 Mb
PubMed search
Wikidata
View/Edit HumanView/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. 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.

See also

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000119535 – Ensembl, May 2017
  2. 1 2 3 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. 1 2 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