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FLASH GENE
Symbol CSF3R contributors: mct - updated : 24-01-2017
HGNC name colony stimulating factor 3 receptor (granulocyte)
HGNC id 2439
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivefemale systemplacenta  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialbarrier/lining   
cells
SystemCellPubmedSpeciesStageRna symbol
Cardiovascularendothelial cell
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text with an extended form, in the placenta and a soluble form
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one Ig-like C2-type domain
  • five fibronectin type III domains
  • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to murine Csf3r ( 75 pc)
    Homologene
    FAMILY
  • type I cytokine receptor family
  • type 2 subfamily
  • CATEGORY receptor membrane
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    text type I transmembrane (TM) protein
    basic FUNCTION
  • receptor controlling the production, differentiation, and function of granulocytes
  • may also function in some cell surface adhesion or recognition processes
  • is required for SHP1 downregulation of CSF3-induced STAT activation
  • critical regulator of granulopoiesis
  • CSF3R signaling participates in the production of neutrophilic granulocytes during normal hematopoietic development, with a particularly important role during emergency hematopoiesis
  • possible role of CSF3 in malignant transformation, particularly in patients with neutropenia harboring mutations in the gene encoding the CSF3R
  • its ubiquitination is crucial for lysosomal routing and degradation
  • CSF3R signaling interacts with RARs in the regulation of myeloid differentiation
  • tight control between activation and attenuation of granulocyte colony stimulating factor receptor (CSF3R) signaling is essential to regulate survival, proliferation and differentiation of myeloid progenitor cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS immunity/defense
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • phosphorylated G-CSFR cytoplasmic tyrosine recruiting specific Src homology 2 domain-containing proteins
  • USP17L6P enhances CSF3 signalling by attenuating lysosomal routing of the CSF3 receptor
  • ER-resident antioxidant PRDX4 interacts with the cytoplasmic domain of the granulocyte colony-stimulating factor receptor (CSF3R)
  • FBXW7 together with GSK3B negatively regulates CSF3R expression and its downstream signaling
  • cell & other
    REGULATION
    repressed by SOCS3 (SOCS3 drives lysosomal degradation of CSF3R, depending on SOCS3-mediated ubiquitination of a specific lysine located in a conserved juxtamembrane motif)
    Other regulated by ubiquitination which is required for regulation of CSF3R-mediated proliferation and cell survival
    ASSOCIATED DISORDERS
    corresponding disease(s) SCNH
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral somatic mutation      
    associated with ASXL1 and/or SETBP1 mutation in chronic neutrophilic leukemia (CNL)
    Susceptibility
  • acquisition of a CSF3R mutation is an early event in leukemogenesis
  • lifelong altered G-CSF response by the G-CSF-R_785Lys may render individuals susceptible to development of high-risk myelodysplastic syndrome
  • Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Csf3/Csf3r axis is fundamentally important for long-term muscle regeneration, functional maintenance and lifespan extension in mouse models of DMD with varying severities