Granulocyte colony-stimulating factor receptor

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Colony stimulating factor 3 receptor (granulocyte)
Protein CSF3R PDB 2d9q.png
PDB rendering based on 2d9q.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols CSF3R ; CD114; GCSFR
External IDs OMIM138971 MGI1339755 HomoloGene601 ChEMBL: 1996 GeneCards: CSF3R Gene
RNA expression pattern
PBB GE CSF3R 203591 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1441 12986
Ensembl ENSG00000119535 ENSMUSG00000028859
UniProt Q99062 P40223
RefSeq (mRNA) NM_000760 NM_001252651
RefSeq (protein) NP_000751 NP_001239580
Location (UCSC) Chr 1:
36.93 – 36.95 Mb
Chr 4:
126.02 – 126.04 Mb
PubMed search [1] [2]

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.[1] G-CSF-R is a cell-surface receptor for the granulocyte colony-stimulating factor (G-CSF).[2] The G-CSF receptors belongs 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[edit]

The class IV isoform defective for both internalization and differentiation signaling.

Clinical significance[edit]

Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia.[3]

Mutations in the intracellular part of this receptor are also associated with certain types of leukemia.[4]

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.[5]

Interactions[edit]

Granulocyte colony-stimulating factor receptor has been shown to interact with Grb2,[6] HCK[7] and SHC1.[6]

See also[edit]

References[edit]

  1. ^ 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. PMID 1371413. 
  2. ^ "Entrez Gene: CSF3R colony stimulating factor 3 receptor (granulocyte)". 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ Ehlers S, Herbst C, Zimmermann M, 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. 
  6. ^ 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. PMID 9824671. 
  7. ^ 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[edit]

External links[edit]