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FLASH GENE
Symbol CSF1R contributors: mct/npt/pgu - updated : 14-09-2013
HGNC name colony stimulating factor 1 receptor
HGNC id 2433
Corresponding disease
HDLS hereditary diffuse leukoencephalopathy with spheroids
Location 5q32      Physical location : 149.432.854 - 149.492.935
Synonym name
  • McDonough feline sarcoma viral (v-fms) oncogene homolog
  • CD115 antigen
  • Fms proto-oncogene
  • macrophage colony stimulating factor I receptor
  • Synonym symbol(s) FMS, M-CSFR, CSFR, CD115, C-FMS, FIM2
    EC.number 2.7.10.1
    DNA
    TYPE functioning gene
    STRUCTURE 60.08 kb     22 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site
    text structure
  • conserved element in the second intron, Fms-Intronic Regulatory Element (FIRE), is essential for macrophage-specific transcription of the gene, and FIRE is an orientation-specific transcribed enhancer element
  • MAPPING cloned Y linked Y status confirmed
    Map cen - D5S89 - EGR1 - CD14 - D5S658 - CTNNA1 - CDC23 - FGF1 - DIAPH1 - HBEGF - NR3C1 - D5S207 - D5S638 - D5S547 - D5S436 - D5S463 - D5S210 - D5S2924 - D5S376 - ADRB2 - D5S2923 - (D5S413 - D5S372 - SLC26A2 ) - PDE6A - D5S2013 - KIAA0194 - CSF1R - CD74 - PDGFRB - CDX1 - D5S551 /D5S636 - RPS14 - NDST1 - D5S470 - D5S2908 - D5S640 - D5S519 - TCOF1 - ANXA6 - SPARC /D5S1699 - GLRA1 - D5S2077 - qter
    Text see IRF1 and SPINK5
    Physical map
    ADRB2 5q31.3 adrenergic, beta-2-, receptor, surface KIAA1985 LOC255187 5q33.1 hypothetical LOC255187 KIAA0843 FLJ36748 5q33.1 hypothetical protein FLJ36748 GRPEL2 5q33.1 GrpE-like 2, mitochondrial (E. coli) MGC3265 5q33.1 hypothetical protein MGC3265 IL17B 5q32-34 interleukin 17B CSNK1A1 13q13 casein kinase 1, alpha 1 LOC389337 5 similar to hypothetical protein 4933429F08 PERC 5q33.1 similar to hypothetical protein 4933429F08 PDE6A 5q31.3 phosphodiesterase 6A, cGMP-specific, rod, alpha SLC26A2 5q31.3 solute carrier family 26 (sulfate transporter), member 2 TIGD6 5q32 tigger transposable element derived 6 RPS20P4 5q33-qter ribosomal protein S20 pseudogene 4 CSF1R 5q31.3 colony stimulating factor 1 receptor, formerly McDonough feline sarcoma viral (v-fms) oncogene homolog RPL7P 5q33.3 ribosomal protein L7 pseudogene PDGFRB 5q31.3 platelet-derived growth factor receptor, beta polypeptide CDX1 5q31.3 caudal type homeo box transcription factor 1 SLC6A7 5q31-q32 solute carrier family 6 (neurotransmitter transporter, L-proline), member 7 CAMK2A 5q33.2 calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha LOC340075 5q33.1 similar to RIKEN cDNA 9330196J05 TCOF1 5q32-q33.1 Treacher Collins-Franceschetti syndrome 1 CD74 5q31.3 CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated) RPS14 5q32 ribosomal protein S14 NDST1 5q31.3-q32 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 SYNPO 5q33.1 synaptopodin MYOZ3 5q33.1 myozenin 3 FLJ10290 5q33.1 hypothetical protein FLJ10290 DCTN4 5q31-q32 dynactin 4 (p62) NID67 5q33.1 putative small membrane protein NID67 LRG47 5q33.1 LRG-47-like protein ZNF300 21 zinc finger protein 300 GPX3 5q23 glutathione peroxidase 3 (plasma) TNIP1 5q32-q33.1 TNFAIP3 interacting protein 1 ANXA6 5q32 annexin A6 DKFZP434C171 5q33.1 DKFZP434C171 protein
    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
    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
    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
  • 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
  • cell & other
    REGULATION
    activated by toll-like receptors (stimulate regulated intramembrane proteolysis of the CSF1R through Erk activation)
    ASSOCIATED DISORDERS
    corresponding disease(s) HDLS
    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