Granulocyte colony-stimulating factor receptor

Colony stimulating factor 3 receptor (granulocyte)
PDB rendering based on 2d9q.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 1AZ7, 2D9Q
Identifiers
Symbols	CSF3R ; CD114; GCSFR
External IDs	OMIM: 138971 MGI: 1339755 HomoloGene: 601 ChEMBL: 1996 GeneCards: CSF3R Gene
Gene ontology Molecular function • receptor activity • cytokine receptor activity • protein binding Cellular component • extracellular region • integral component of plasma membrane Biological process • defense response • cell adhesion • signal transduction • cytokine-mediated signaling pathway • neutrophil chemotaxis • regulation of myeloid cell differentiation • amelogenesis Sources: Amigo / QuickGO
RNA expression pattern
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: 36.47 – 36.48 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. G-CSF-R is a cell-surface receptor for the granulocyte colony-stimulating factor (G-CSF). 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

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

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

• Cluster of differentiation

External links

• CSF3R protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)