| Predicate | Object |
|---|---|
| rdf:type | |
| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
Granulocyte colony-stimulating factor receptor
|
| http://www.biopax.org/relea... |
CSF3R_HUMAN
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| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
CD114,
G-CSF receptor,
G-CSF-R
|
| http://www.biopax.org/relea... |
FUNCTION: Receptor for granulocyte colony-stimulating factor (CSF3), essential for granulocytic maturation. Plays a crucial role in the proliferation, differientation and survival of cells along the neutrophilic lineage. In addition it may function in some adhesion or recognition events at the cell surface. SUBUNIT: Homodimer. The dimeric receptor binds two CSF3 molecules. SUBCELLULAR LOCATION: Isoform 2: Secreted (Probable). SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=4; Comment=Additional isoforms seem to exist. Experimental confirmation may be lacking for some isoforms; Name=1; Synonyms=GCSFR-1; IsoId=Q99062-1; Sequence=Displayed; Name=2; Synonyms=GCSFR-2; IsoId=Q99062-2; Sequence=VSP_001674; Name=3; Synonyms=GCSFR-3; IsoId=Q99062-3; Sequence=VSP_001673; Name=4; Synonyms=GCSFR-4, D7; IsoId=Q99062-4; Sequence=VSP_001671, VSP_001672; 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. DOMAIN: The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell- surface receptor binding. DOMAIN: The box 1 motif is required for JAK interaction and/or activation. DISEASE: Defects in CSF3R are the cause of 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. MISCELLANEOUS: Mutations in CSF3R acquired in multipotent hematopoietic progenitor cells and resulting in truncated hyper- responsive forms of the receptor, have been identified in most cases of severe congenital neutropenia (SCN). Patients carrying these mutations are at risk for developing myelodysplastic syndromes and/or acute myeloid leukemia. Constitutive mutations leading to hyporesponsive forms of the receptor are responsible for the refractoriness to CSF3 treatement observed in some SCN patients. SIMILARITY: Belongs to the type I cytokine receptor family. Type 2 subfamily. SIMILARITY: Contains 5 fibronectin type-III domains. SIMILARITY: Contains 1 Ig-like C2-type (immunoglobulin-like) domain. WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/csf3r/"; GENE SYNONYMS: GCSFR. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
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