CSF3R
Domain
The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
The box 1 motif is required for JAK interaction and/or activation.
Function
Receptor for granulocyte colony-stimulating factor (CSF3), essential for granulocytic maturation. Plays a crucial role in the proliferation, differentiation and survival of cells along the neutrophilic lineage. In addition it may function in some adhesion or recognition events at the cell surface.
Involvement in disease
Hereditary neutrophilia
NEUTROPHILIA
A form of lifelong, persistent neutrophilia, a condition characterized by an increase in the number of neutrophils in the blood.
None
The disease is caused by variants affecting the gene represented in this entry.
Neutropenia, severe congenital 7, autosomal recessive
SCN7
A form of severe congenital neutropenia, a disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
N-glycosylated.
Sequence Similarities
Belongs to the type I cytokine receptor family. Type 2 subfamily.
Tissue Specificity
One or several isoforms have been found in myelogenous leukemia cell line KG-1, leukemia U-937 cell line, in bone marrow cells, placenta, and peripheral blood granulocytes. Isoform GCSFR-2 is found only in leukemia U-937 cells. Isoform GCSFR-3 is highly expressed in placenta.
Cellular localization
- Isoform 2
- Secreted
- Cell membrane
- Single-pass type I membrane protein
Alternative names
CD114, GCSFR, CSF3R, Granulocyte colony-stimulating factor receptor, G-CSF receptor, G-CSF-R