NP_000751.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Related Accession #
Molecular Weight
92,156 Da
NCBI Official Full Name
granulocyte colony-stimulating factor receptor isoform a
NCBI Official Synonym Full Names
colony stimulating factor 3 receptor (granulocyte)
NCBI Official Synonym Symbols
NCBI Protein Information
granulocyte colony-stimulating factor receptor; G-CSF-R; CD114 antigen; G-CSF receptor
UniProt Protein Name
Granulocyte colony-stimulating factor receptor
UniProt Synonym Gene Names
UniProt Entry Name
CSF3R_HUMAN
NCBI Summary for G-CSF R
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]
UniProt Comments for G-CSF R
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. Ref.8
Subunit structure: Homodimer. The dimeric receptor binds two CSF3 molecules. Ref.13
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-2is found only in leukemia U-937 cells. Isoform GCSFR-3is 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. Ref.7The box 1 motif is required for JAK interaction and/or activation. Ref.7
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. Ref.15
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 treatment observed in some SCN patients.
Sequence similarities: 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.
Research Articles on G-CSF R
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Products associated with anti-G-CSF R antibody
Pathways associated with anti-G-CSF R antibody
Diseases associated with anti-G-CSF R antibody
Organs/Tissues associated with anti-G-CSF R antibody
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