The protein encoded by this 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 this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia. [provided by RefSeq, Aug 2010],
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Function:
Alternative products:Additional isoforms seem to exist. Experimental confirmation may be lacking for some isoforms,Disease:Defects in CSF3R may be a cause of severe congenital neutropenia (SCN) in some patients.,Domain:The box 1 motif is required for JAK interaction and/or activation.,Domain:The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.,Function:Receptor for granulocyte colony-stimulating factor (CSF3). In addition it may function in some adhesion or recognition events at the cell surface.,similarity:Belongs to the type I cytokine receptor family. Type 2 subfamily.,similarity:Contains 1 Ig-like C2-type (immunoglobulin-like) domain.,similarity:Contains 5 fibronectin type-III domains.,subunit:Homodimer. The dimeric receptor binds two CSF3 molecules.,tissue specificity:One or several isoforms have been found in myelogenous leukemia cell line KG-1, leukemia U937 cell line, in bone marrow cells, placenta, and peripheral blood granulocytes. Isoform GCSFR-2 is found only in leukemia U937 cells. Isoform GSCFR-3 is highly expressed in placenta.,
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Cellular Localization:
[Isoform 2]: Secreted .; Cell membrane ; Single-pass type I membrane protein .
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Tissue Expression:
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.
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Research Areas:
>>Cytokine-cytokine receptor interaction ;
>>PI3K-Akt signaling pathway ;
>>JAK-STAT signaling pathway ;
>>Hematopoietic cell lineage ;
>>Pathways in cancer