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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
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