Gene Summary: The protein encoded by CSF3R gene is the receptor for colony stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of cytokine receptors, may also function in some cell surface adhesion or recognition processes. Alternatively spliced transcript variants have been described. Mutations in CSF3R gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia. [provided by RefSeq, Aug 2010]General information above from NCBI
Subunit structure: Homodimer. The dimeric receptor binds two CSF3 molecules.
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.
Subcellular location: Isoform 2: Secreted (Probable).
Cell membrane; Single-pass type I membrane protein.
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.
Involvement in disease: Hereditary neutrophilia (NEUTROPHILIA) [MIM:162830]: A form of lifelong, persistent neutrophilia, a condition characterized by an increase in the number of neutrophils in the blood. Note=The disease is caused by mutations affecting the gene represented in this entry.
Sequence similarity: Belongs to the type I cytokine receptor family. Type 2 subfamily.
Contains 5 fibronectin type-III domains.
Contains 1 Ig-like C2-type (immunoglobulin-like) domain.
General information above from UniProt