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FLASH GENE
Symbol CSF1R contributors: mct/npt/pgu - updated : 14-09-2015
HGNC name colony stimulating factor 1 receptor
HGNC id 2433
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
22 - 4006 108 972 - 2009 19321746
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinelarge intestinecolon   Mus musculus
Reproductivefemale systemplacenta  highly Homo sapiens
 female systemoviduct    Homo sapiens
Urinarykidneytubuleconvoluted tubuleproximal tubule  Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow  highly
cells
SystemCellPubmedSpeciesStageRna symbol
Blood/Hematopoieticmyelocyte Homo sapiensAdult
Digestiveepithelial cell Mus musculus
DigestivePaneth Mus musculus
Lymphoid/Immunemacrophage Homo sapiensAdult
Reproductiveoocyte Homo sapiens
Urinaryepithelial cell Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a highly glycosylated extracellular ligand-binding domain
  • a transmembrane domain
  • an intracellular tyrosine kinase domain
  • HOMOLOGY
    interspecies homolog to feline McDonough sarcoma viral,oncogene (v-fms)
    Homologene
    FAMILY
  • protein kinase superfamily
  • Tyr protein kinase family
  • CSF-1/PDGF receptor subfamily
  • CATEGORY enzyme , signaling cytokine , receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • ligand activated protein-tyrosine kinase that utilizes autophosphorylation sites to regulate kinase activity and to control interactions with signaling proteins
  • disrupts cell adhesion by uncoupling adherens junction complexes from the cytoskeleton and promoting cadherin internalization through a Src-dependent mechanism and could contribute to invasive progression in epithelial cancers
  • undergoes regulated intramembrane proteolysis, releasing the intracellular domain from the plasma membrane, enabling it to move to other compartments within the cell to participate in signaling
  • tyrosine kinase receptor that is absolutely required for macrophage differentiation and thus occupies a central role in hematopoiesis
  • CSF1R, through GAB2, utilizes different effectors at different stages of mononuclear phagocytes development to promote their expansion
  • required for the development of microglia, for a fully functional olfactory system and the maintenance of normal brain structure
  • presence of functional nucleus-associated CSF1Rs, which are activated by extracellular CSF1 by a mechanism that involves PIK3CA and RAB5 activity
  • is a crucial mediator of microglial proliferation and differentiation in the brain
  • directly regulates the development of Paneth cells (PC) and influences proliferation and cell fate in the small intestine
  • CSF1R signaling plays potentially an important role in colon homeostasis and stem cell gene expression
  • CSF1R was involved in the maintenance of adult microglia and the receptor for the cytokine TGFB1 suppressed activation of microglia
  • plays key roles in regulating development and function of the monocyte/macrophage lineage, including microglia and osteoclasts
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with HCK (dysregulated activation of HCK at the Golgi disturbs N-glycosylation of CSF1R)
  • IL34 is a ligand of CSF1R
  • GAB2 is a major tyrosyl phosphoprotein in the CSF1R signaling network
  • PSTPIP2 acts as a negative feedback regulator of CSF1R signaling to suppress inflammation and osteoclastogenesis
  • activation of the MAPK7/MAP2K5 pathway with CSF1R is required for osteoclast differentiation, which may induce differentiation through the induction of FOS
  • cell & other
    REGULATION
    activated by toll-like receptors (stimulate regulated intramembrane proteolysis of the CSF1R through Erk activation)
    ASSOCIATED DISORDERS
    corresponding disease(s) HDLS , DOSBF
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --other  
    deregulated in anaplastic large cell lymphoma (ALCL) with and without the characteristic t(2;5)(p23;q35)
    tumoral fusion      
    with RBM6 in a t(3;5)(p21;q33) in megakaryoblastic leukemia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • brain abnormalities of Csf1r-/- mice are characterized by severe microglial depletion and enlarged ventricles, probably attributing to the early lethality