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CSF1R Gene

protein-coding   GIFtS: 69
GCID: GC05M149413

Colony Stimulating Factor 1 Receptor

(Previous name: McDonough feline sarcoma viral (v-fms) oncogene homolog)
(Previous symbol: FMS)
  See CSF1R-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Colony Stimulating Factor 1 Receptor1 2     C-FMS2
FMS1 2 3 5     CD1152
McDonough Feline Sarcoma Viral (V-Fms) Oncogene Homolog1 2     CSFR2
Proto-Oncogene C-Fms2 3     FIM22
CSF-1R2 3     FMS Proto-Oncogene2
M-CSF-R2 3     Macrophage Colony Stimulating Factor I Receptor2
CD115 Antigen2 3     Macrophage Colony-Stimulating Factor 1 Receptor2
CSF-1 Receptor2 3     CSF-1-R3
EC 2.7.10.13 8     EC 2.7.108
HDLS2 5     

External Ids:    HGNC: 24331   Entrez Gene: 14362   Ensembl: ENSG000001825787   OMIM: 1647705   UniProtKB: P073333   

Export aliases for CSF1R gene to outside databases

Previous GC identifers: GC05M149503 GC05M150020 GC05M149416 GC05M149461 GC05M144580


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CSF1R Gene:
The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the
production, differentiation, and function of macrophages. This receptor mediates most if not all of the
biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of
oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and
member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated
with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive
ribosomal protein L7 processed pseudogene oriented in the opposite direction. Alternative splicing results in
multiple transcript variants. (provided by RefSeq, Dec 2013)

GeneCards Summary for CSF1R Gene:
CSF1R (colony stimulating factor 1 receptor) is a protein-coding gene. Diseases associated with CSF1R include csf1r-related hereditary diffuse leukoencephalopathy with spheroids, and hereditary diffuse leukoencephalopathy with spheroids. GO annotations related to this gene include macrophage colony-stimulating factor receptor activity and protein homodimerization activity. An important paralog of this gene is FLT4.

UniProtKB/Swiss-Prot: CSF1R_HUMAN, P07333
Function: Tyrosine-protein kinase that acts as cell-surface receptor for CSF1 and IL34 and plays an essential role
in the regulation of survival, proliferation and differentiation of hematopoietic precursor cells, especially
mononuclear phagocytes, such as macrophages and monocytes. Promotes the release of proinflammatory chemokines in
response to IL34 and CSF1, and thereby plays an important role in innate immunity and in inflammatory processes.
Plays an important role in the regulation of osteoclast proliferation and differentiation, the regulation of bone
resorption, and is required for normal bone and tooth development. Required for normal male and female fertility,
and for normal development of milk ducts and acinar structures in the mammary gland during pregnancy. Promotes
reorganization of the actin cytoskeleton, regulates formation of membrane ruffles, cell adhesion and cell
migration, and promotes cancer cell invasion. Activates several signaling pathways in response to ligand binding.
Phosphorylates PIK3R1, PLCG2, GRB2, SLA2 and CBL. Activation of PLCG2 leads to the production of the cellular
signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate, that then lead to the activation of protein
kinase C family members, especially PRKCD. Phosphorylation of PIK3R1, the regulatory subunit of
phosphatidylinositol 3-kinase, leads to activation of the AKT1 signaling pathway. Activated CSF1R also mediates
activation of the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1, and of the SRC family kinases SRC, FYN and YES1.
Activated CSF1R transmits signals both via proteins that directly interact with phosphorylated tyrosine residues
in its intracellular domain, or via adapter proteins, such as GRB2. Promotes activation of STAT family members
STAT3, STAT5A and/or STAT5B. Promotes tyrosine phosphorylation of SHC1 and INPP5D/SHIP-1. Receptor signaling is
down-regulated by protein phosphatases, such as INPP5D/SHIP-1, that dephosphorylate the receptor and its
downstream effectors, and by rapid internalization of the activated receptor

Gene Wiki entry for CSF1R (Colony stimulating factor 1 receptor) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NC_018916.2  NT_029289.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the CSF1R gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CSF1R promoter sequence
   Search Chromatin IP Primers for CSF1R

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CSF1R


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q32   Ensembl cytogenetic band:  5q32   HGNC cytogenetic band: 5q32

CSF1R Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CSF1R gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M149413:  view genomic region     (about GC identifiers)

Start:
149,432,854 bp from pter      End:
149,492,935 bp from pter
Size:
60,082 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CSF1R_HUMAN, P07333 (See protein sequence)
Recommended Name: Macrophage colony-stimulating factor 1 receptor precursor  
Size: 972 amino acids; 107984 Da
Subunit: Interacts with INPPL1/SHIP2 and THOC5 (By similarity). Monomer. Homodimer. Interacts with CSF1 and IL34.
Interaction with dimeric CSF1 or IL34 leads to receptor homodimerization. Interacts (tyrosine phosphorylated)
with PLCG2 (via SH2 domain). Interacts (tyrosine phosphorylated) with PIK3R1 (via SH2 domain). Interacts
(tyrosine phosphorylated) with FYN, YES1 and SRC (via SH2 domain). Interacts (tyrosine phosphorylated) with CBL,
GRB2 and SLA2
Selected PDB 3D structures from and Proteopedia for CSF1R (see all 12):
2I0V (3D)        2I0Y (3D)        2I1M (3D)        2OGV (3D)        3BEA (3D)        3DPK (3D)    
Secondary accessions: B5A955 D3DQG2 Q6LDW5 Q6LDY4 Q86VW7
Alternative splicing: 2 isoforms:  P07333-1   P07333-2   

Explore the universe of human proteins at neXtProt for CSF1R: NX_P07333

Explore proteomics data for CSF1R at MOPED

Post-translational modifications: 

  • Autophosphorylated in response to CSF1 or IL34 binding. Phosphorylation at Tyr-561 is important for normal
    down-regulation of signaling by ubiquitination, internalization and degradation. Phosphorylation at Tyr-561 and
    Tyr-809 is important for interaction with SRC family members, including FYN, YES1 and SRC, and for subsequent
    activation of these protein kinases. Phosphorylation at Tyr-699 and Tyr-923 is important for interaction with
    GRB2. Phosphorylation at Tyr-723 is important for interaction with PIK3R1. Phosphorylation at Tyr-708 is
    important for normal receptor degradation. Phosphorylation at Tyr-723 and Tyr-809 is important for interaction
    with PLCG2. Phosphorylation at Tyr-969 is important for interaction with CBL. Dephosphorylation by PTPN2
    negatively regulates downstream signaling and macrophage differentiation1
  • Ubiquitinated. Becomes rapidly polyubiquitinated after autophosphorylation, leading to its degradation1
  • Ubiquitination2 at Lys586, Lys812, Lys870
  • Glycosylation2 at Asn45, Asn73, Asn153, Asn240, Asn275, Asn302, Asn335, Asn353, Asn412, Asn428,
                                 Asn480
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CSF1R (P07333) (see all 29)
     ALMSELK  WEIFSLG  VAVKMLK  HTDRCDE 


    See CSF1R Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001275634.1  NP_005202.2  

    ENSEMBL proteins: 
     ENSP00000422212   ENSP00000286301   ENSP00000427545   ENSP00000421174   ENSP00000445282  

    CSF1R Human Recombinant Protein Products:

    EMD Millipore Purified and/or Recombinant CSF1R Protein
    R&D Systems Recombinant & Natural Proteins for CSF1R (M-CSF R)
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    OriGene Purified Proteins for CSF1R
    OriGene Protein Over-expression Lysate for CSF1R
    OriGene MassSpec for CSF1R
    OriGene Custom Protein Services for CSF1R
    GenScript Custom Purified and Recombinant Proteins Services for CSF1R
    Novus Biologicals CSF1R Proteins
    Novus Biologicals CSF1R Lysate
    Sino Biological Recombinant Protein for CSF1R
    Sino Biological Cell Lysate for CSF1R
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for CSF1R 

     
    antibodies-online proteins for CSF1R (13 products) 

     
    antibodies-online peptides for CSF1R

    CSF1R Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of CSF1R
    R&D Systems Antibodies for CSF1R (M-CSF R)
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    OriGene Antibodies for CSF1R
    OriGene Custom Antibody Services for CSF1R
    Novus Biologicals CSF1R Antibodies
    Abcam antibodies for CSF1R
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for CSF1R
    antibodies-online antibodies for CSF1R (230 products) 

    CSF1R Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CSF1R
    R&D Systems ELISAs for CSF1R (M-CSF R)         (see all)
    GenScript Custom Assay Services for CSF1R
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for CSF1R 
    antibodies-online kits for CSF1R (12 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CD: CD molecules
    IGD: Immunoglobulin superfamily / Immunoglobulin-like domain containing

    IUPHAR Guide to PHARMACOLOGY protein family classification: colony stimulating factor 1 receptor
    PDGF (platelet-derived growth factor) receptor family
    PDGF (platelet-derived growth factor) receptor family

    Selected InterPro protein domains (see all 13):
     IPR003598 Ig_sub2
     IPR017441 Protein_kinase_ATP_BS
     IPR011009 Kinase-like_dom
     IPR013783 Ig-like_fold
     IPR000719 Prot_kinase_dom

    Graphical View of Domain Structure for InterPro Entry P07333

    ProtoNet protein and cluster: P07333

    4 Blocks protein domains:
    IPB001824 Receptor tyrosine kinase
    IPB003598 Immunoglobulin C-2 type
    IPB008266 Tyrosine protein kinase
    IPB013106 Immunoglobulin V-set


    UniProtKB/Swiss-Prot: CSF1R_HUMAN, P07333
    Domain: The juxtamembrane domain functions as autoinhibitory region. Phosphorylation of tyrosine residues in this
    region leads to a conformation change and activation of the kinase
    Domain: The activation loop plays an important role in the regulation of kinase activity. Phosphorylation of
    tyrosine residues in this region leads to a conformation change and activation of the kinase
    Similarity: Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily
    Similarity: Contains 5 Ig-like C2-type (immunoglobulin-like) domains
    Similarity: Contains 1 protein kinase domain


    Find genes that share domains with CSF1R           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CSF1R_HUMAN, P07333
    Function: Tyrosine-protein kinase that acts as cell-surface receptor for CSF1 and IL34 and plays an essential role
    in the regulation of survival, proliferation and differentiation of hematopoietic precursor cells, especially
    mononuclear phagocytes, such as macrophages and monocytes. Promotes the release of proinflammatory chemokines in
    response to IL34 and CSF1, and thereby plays an important role in innate immunity and in inflammatory processes.
    Plays an important role in the regulation of osteoclast proliferation and differentiation, the regulation of bone
    resorption, and is required for normal bone and tooth development. Required for normal male and female fertility,
    and for normal development of milk ducts and acinar structures in the mammary gland during pregnancy. Promotes
    reorganization of the actin cytoskeleton, regulates formation of membrane ruffles, cell adhesion and cell
    migration, and promotes cancer cell invasion. Activates several signaling pathways in response to ligand binding.
    Phosphorylates PIK3R1, PLCG2, GRB2, SLA2 and CBL. Activation of PLCG2 leads to the production of the cellular
    signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate, that then lead to the activation of protein
    kinase C family members, especially PRKCD. Phosphorylation of PIK3R1, the regulatory subunit of
    phosphatidylinositol 3-kinase, leads to activation of the AKT1 signaling pathway. Activated CSF1R also mediates
    activation of the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1, and of the SRC family kinases SRC, FYN and YES1.
    Activated CSF1R transmits signals both via proteins that directly interact with phosphorylated tyrosine residues
    in its intracellular domain, or via adapter proteins, such as GRB2. Promotes activation of STAT family members
    STAT3, STAT5A and/or STAT5B. Promotes tyrosine phosphorylation of SHC1 and INPP5D/SHIP-1. Receptor signaling is
    down-regulated by protein phosphatases, such as INPP5D/SHIP-1, that dephosphorylate the receptor and its
    downstream effectors, and by rapid internalization of the activated receptor
    Catalytic activity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate
    Enzyme regulation: Present in an inactive conformation in the absence of bound ligand. CSF1 or IL34 binding leads
    to dimerization and activation by autophosphorylation on tyrosine residues. Inhibited by imatinib/STI-571
    (Gleevec), dasatinib, sunitinib/SU11248, lestaurtinib/CEP-701, midostaurin/PKC-412, Ki20227, linifanib/ABT-869,
    Axitinib/AG013736, sorafenib/BAY 43-9006 and GW2580
    Induction: Up-regulated by glucocorticoids

         Genatlas biochemistry entry for CSF1R:
    colony-stimulating factor 1 (macrophage),receptor

         Enzyme Numbers (IUBMB): EC 2.7.10.11 2 EC 2.7.102

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004713protein tyrosine kinase activity ----
    GO:0004714transmembrane receptor protein tyrosine kinase activity ----
    GO:0005011macrophage colony-stimulating factor receptor activity IMP--
    GO:0005515protein binding ----
         
    Find genes that share ontologies with CSF1R           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for CSF1R:
     Decreased focal adhesion (FA)   Decreased substrate adherent c  Paclitaxel antagonistic effect 

         14 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Csf1r):
     behavior/neurological  cellular  craniofacial  endocrine/exocrine gland  growth/size/body 
     hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  immune system  integument 
     limbs/digits/tail  mortality/aging  reproductive system  skeleton 

    Find genes that share phenotypes with CSF1R           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for CSF1R: Csf1rtm1Ers Csf1rtm1Anjm

       genOway: Develop your customized and physiologically relevant rodent model for CSF1R

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat CSF1R using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CSF1R (see all 14):
    hsa-miR-3650 hsa-miR-22 hsa-miR-3194-5p hsa-miR-34c-5p hsa-miR-449b hsa-miR-146a hsa-miR-765 hsa-miR-449a
    SwitchGear 3'UTR luciferase reporter plasmidCSF1R 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CSF1R
    Predesigned siRNA for gene silencing in human, mouse, rat CSF1R

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CSF1R

    Clone
    Products:
         
    OriGene clones in human, mouse for CSF1R (see all 8)
    OriGene ORF clones in mouse, rat for CSF1R
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CSF1R (NM_005211)
    Sino Biological Human cDNA Clone for CSF1R
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CSF1R
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CSF1R
    Addgene plasmids for CSF1R 

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    eBioscience FlowRNA Probe Sets ( VA6-14206) for CSF1R 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CSF1R_HUMAN, P07333: Cell membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton2
    extracellular2
    nucleus2
    cytosol1
    endoplasmic reticulum1
    golgi apparatus1
    lysosome1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS2421165
    GO:0005887integral component of plasma membrane TAS2421165
    GO:0009986cell surface ISS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane ----

    Find genes that share ontologies with CSF1R           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CSF1R About   (see all 24)  
    See pathways by source

    SuperPathContained pathways About
    1PEDF Induced Signaling
    STAT3 Pathway0.47
    Cytokine-cytokine receptor interaction0.43
    Endothelin-1 Signaling Pathway0.46
    2GPCR Pathway
    Ras Pathway0.73
    Breast Cancer Regulation by Stathmin10.58
    Paxillin Interactions0.73
    NFAT in Immune Response0.58
    GPCR Pathway0.62
    Estrogen Pathway0.55
    Pancreatic Adenocarcinoma0.59
    P2Y Receptor Signaling0.38
    3ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    4Nanog in Mammalian ESC Pluripotency
    Nanog in Mammalian ESC Pluripotency0.61
    14-3-3 Induced Intracellular Signaling0.59
    GSK3 Signaling0.61
    eNOS Signaling0.48
    5Akt Signaling
    Akt Signaling0.60
    Tec Kinases Signaling0.55
    p38 Signaling0.60


    Find genes that share SuperPaths with CSF1R           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CSF1R (see all 33)
        Paxillin Interactions
    Molecular Mechanisms of Cancer
    Antioxidant Action of Vitamin-C
    Intracellular Calcium Signaling
    JNK Pathway

    1 Cell Signaling Technology (CST) Pathway for CSF1R
        Tyrosine Kinases / Adaptors

    4 BioSystems Pathways for CSF1R
        Integrins in angiogenesis
    C-MYB transcription factor network
    Signaling events mediated by PTP1B
    Signaling events mediated by TCPTP



    Selected Kegg Pathways  (Kegg details for CSF1R) (see all 9):
        Ras signaling pathway
    Rap1 signaling pathway
    Cytokine-cytokine receptor interaction
    Endocytosis
    PI3K-Akt signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CSF1R: 
              Cell Surface Markers in human mouse rat
              Antigen Presenting Cells in human mouse rat
              JAK / STAT Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CSF1R

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CSF1R (P073332, 3 ENSP000002863014) via UniProtKB, MINT, STRING, and/or I2D (see all 74)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FYNP062412, 3, ENSP000003576564MINT-8030741 I2D: score=3 STRING: ENSP00000357656
    GRB2P629933, ENSP000003390074I2D: score=3 STRING: ENSP00000339007
    CSF1P096033, ENSP000003275134I2D: score=2 STRING: ENSP00000327513
    INPP5DQ928353, ENSP000003525754I2D: score=2 STRING: ENSP00000352575
    PIK3R2O004593, ENSP000002222544I2D: score=1 STRING: ENSP00000222254
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 34):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001934positive regulation of protein phosphorylation IMP--
    GO:0006468protein phosphorylation ----
    GO:0006954inflammatory response TAS19132917
    GO:0007165signal transduction TAS8981357
    GO:0007169transmembrane receptor protein tyrosine kinase signaling pathway ISS--

    Find genes that share ontologies with CSF1R           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for CSF1R
      Browse compounds at ApexBio 

    Browse Tocris compounds for CSF1R

    2 HMDB Compounds for CSF1R    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--

    4 DrugBank Compounds for CSF1R    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    ImatinibCGP-57148B (see all 4)152459-95-5targetantagonist17049513 16449525 16816921 16170366 15917650
    SunitinibSU011248 (see all 2)557795-19-4targetother/unknown16648572 17367763
    5-CYANO-FURAN-2-CARBOXYLIC ACID [5-HYDROXYMETHYL-2-(4-METHYL-PIPERIDIN-1-YL)-PHENYL]-AMIDE-- --target--10592235
    6-CHLORO-3-(3-METHYLISOXAZOL-5-YL)-4-PHENYLQUINOLIN-2(1H)-ONE-- --target--10592235

    3 IUPHAR Ligands for CSF1R (colony stimulating factor 1 receptor)    About this table
    LigandTypeActionAffinityPubmed IDs
    GM-CSF
    NoneNone--
    M-CSF
    NoneNone--
    G-CSF
    NoneNone--

    Selected Novoseek inferred chemical compound relationships for CSF1R gene (see all 43)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 73.1 171 14969583 (4), 8981370 (4), 1833648 (3), 16648572 (3) (see all 94)
    imatinib 59.3 38 15637141 (3), 18814279 (3), 16648572 (3), 15917650 (3) (see all 16)
    nitroblue tetrazolium 54 6 8913320 (1), 11911463 (1), 2144331 (1), 8462021 (1) (see all 5)
    12-o-tetradecanoylphorbol 13-acetate 39.5 29 2144778 (6), 8359233 (6), 9301678 (2), 2140592 (2) (see all 7)
    phosphatidylinositol 39.2 22 2164469 (4), 1372092 (2), 1708091 (2), 1833648 (1) (see all 11)
    bryostatin 1 36.6 3 9279365 (2), 11777344 (1)
    phorbol 36.6 3 15286807 (1), 2144778 (1), 1848705 (1)
    1,25 dihydroxy vitamin d3 31.7 5 9158000 (2), 8398907 (1), 8227169 (1)
    cytarabine 31 1 8462021 (1)
    phosphotyrosine 28.1 5 15236912 (1), 1708091 (1), 9366562 (1)



    Find genes that share compounds with CSF1R           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CSF1R gene (2 alternative transcripts): 
    NM_001288705.1  NM_005211.3  

    Unigene Cluster for CSF1R:

    Colony stimulating factor 1 receptor
    Hs.586219  [show with all ESTs]
    Unigene Representative Sequence: NM_005211
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000504875(uc011dcd.2) ENST00000286301(uc010jhc.3 uc003lrl.3 uc003lrm.3 uc011dce.1)
    ENST00000509861 ENST00000515068 ENST00000515239 ENST00000513609 ENST00000502660(uc011dcf.2)
    ENST00000511344 ENST00000543093
    miRNA
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    hsa-miR-3650 hsa-miR-22 hsa-miR-3194-5p hsa-miR-34c-5p hsa-miR-449b hsa-miR-146a hsa-miR-765 hsa-miR-449a
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    Addgene plasmids for CSF1R 
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    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA6-14206) for CSF1R 

    Additional mRNA sequence: 

    AB208819.1 AK294467.1 AK304491.1 BC047521.1 BC129939.1 BX648599.1 EU826593.1 M14193.1 
    X03663.1 

    11 DOTS entries:

    DT.97770481  DT.100814450  DT.452452  DT.101965758  DT.100813294  DT.95333580  DT.120845509  DT.97833313 
    DT.120845651  DT.91936822  DT.95214896 

    Selected AceView cDNA sequences (see all 463):

    BM677026 M14193 BF375451 R92689 BX102016 R70545 BP360429 BM710458 
    AA912447 AI590783 AA284954 CN481180 CA394100 BM689263 AA284843 AW630154 
    AW963369 BQ723697 CD518518 BM704575 BF222994 BU615910 BX479433 BU069362 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CSF1R expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGCTGGCCA
    CSF1R Expression
    About this image


    CSF1R expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 4 entries
             Macrophage-Dendritic cell progenitors Hematopoietic Bone Marrow
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 5 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Metanephric Mesenchyme Cells Metanephric Mesenchyme
             Interstitial Stroma
     
     Endothelium (Cardiovascular System)    fully expand to see all 3 entries
             Extraembryonic Angioblasts Extraembryonic Capillary Plexus
             Purified endothelial-like cells
     
     Zygote (Early Embryonic Tissues)
             8-Cell Embryo Morula
    CSF1R Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CSF1R Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.586219

    UniProtKB/Swiss-Prot: CSF1R_HUMAN, P07333
    Tissue specificity: Expressed in bone marrow and in differentiated blood mononuclear cells

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CSF1R: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CSF1R gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Csf1r1 , 5 colony stimulating factor 1 receptor1, 5 79.7(n)1
    75.81(a)1
      18 (34.41 cM)5
    129781  NM_001037859.21  NP_001032948.21 
     611055725 
    chicken
    (Gallus gallus)
    Aves CSF1R6
    colony stimulating factor 1 receptor
    52(a)
    1 ↔ 1
    13(12594407-12611465)
    lizard
    (Anolis carolinensis)
    Reptilia CSF1R6
    colony stimulating factor 1 receptor
    49(a)
    1 ↔ 1
    2(139573947-139613670)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia csf1r1 csf1r protein 54.04(n)
    47.99(a)
      493543  NM_001008180.1  NP_001008181.1 
    zebrafish
    (Danio rerio)
    Actinopterygii csf1r2 colony stimulating factor 1 receptor 79.51(n)   64274  AF240639.1 


    ENSEMBL Gene Tree for CSF1R (if available)
    TreeFam Gene Tree for CSF1R (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CSF1R gene
    FLT42  FGFR42  PDGFRB2  KIT2  FGFR32  PDGFRA2  RET2  KDR2  
    FGFR12  FGFR22  FLT32  FLT12  
    10 SIMAP similar genes for CSF1R using alignment to 6 protein entries:     CSF1R_HUMAN (see all proteins):
    FLT-1    NIN/PDGFRB fusion    FGFR2    KIT    FLT4    kit
    EPHA2    FLT3    PDGFRA    PDGFRB

    Find genes that share paralogs with CSF1R           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CSF1R (see all 1620)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0674014
    Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS)4--see VAR_0674012 M T mis40--------
    VAR_0674054
    Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS)4--see VAR_0674052 I T mis40--------
    VAR_0673984
    Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS)4--see VAR_0673982 E K mis40--------
    VAR_0420424
    A lung squamous cell carcinoma sample4--see VAR_0420422 P H mis40--------
    VAR_0674024
    Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS)4--see VAR_0674022 A P mis40--------
    VAR_0674094
    Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS)4--see VAR_0674092 L P mis40--------
    VAR_0674044
    Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS)4--see VAR_0674042 I N mis40--------
    VAR_0673974
    Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS)4--see VAR_0673972 G E mis40--------
    VAR_0674114
    Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS)4--see VAR_0674112 P T mis40--------
    VAR_0674104
    Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS)4--see VAR_0674102 M T mis40--------

    HapMap Linkage Disequilibrium report for CSF1R (149432854 - 149492935 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CSF1R (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2355903CNV Deletion18987734
    esv2730911CNV Deletion23290073
    esv2661063CNV Deletion23128226
    esv2504567CNV Deletion19546169
    nsv883027CNV Loss21882294
    nsv883028CNV Loss21882294
    nsv523125CNV Loss19592680
    nsv830518CNV Loss17160897
    dgv6359n71CNV Loss21882294
    nsv528113CNV Loss19592680

    Human Gene Mutation Database (HGMD): CSF1R
    4 Site Specific Mutation Identification with PCR Assays for CSF1R:
    Cosmic IdAA Change
    947p.Y969C
    954p.L301S
    948p.Y969F
    952p.Y969H
    5 Site Specific Cancer Mutation PCR Panels containing CSF1R:
    Tyrosine Kinases & Cell Signaling Pathways Panel 384HT
    Oncogene and Tumor Suppressor Panel 384HT
    Hematopoietic Neoplasms
    Cancer Comprehensive Panel 384HT
    Oncogene Panel 384HT
    SeqTarget long-range PCR primers for resequencing CSF1R
    DNA2.0 Custom Variant and Variant Library Synthesis for CSF1R

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 164770   
    OMIM disorders: 221820  
    UniProtKB/Swiss-Prot: CSF1R_HUMAN, P07333
  • Note=Aberrant expression of CSF1 or CSF1R can promote cancer cell proliferation, invasion and formation
    of metastases. Overexpression of CSF1 or CSF1R is observed in a significant percentage of breast, ovarian,
    prostate, and endometrial cancers
  • Note=Aberrant expression of CSF1 or CSF1R may play a role in inflammatory diseases, such as rheumatoid
    arthritis, glomerulonephritis, atherosclerosis, and allograft rejection
  • Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]: An autosomal dominant
    adult-onset rapidly progressive neurodegenerative disorder characterized by variable behavioral, cognitive, and
    motor changes. Patients often die of dementia within 6 years of onset. Brain imaging shows patchy abnormalities
    in the cerebral white matter, predominantly affecting the frontal and parietal lobes. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • 14 diseases for CSF1R:    
    About MalaCards
    csf1r-related hereditary diffuse leukoencephalopathy with spheroids    hereditary diffuse leukoencephalopathy with spheroids    malignant histiocytosis    5q- syndrome
    histiocytic sarcoma    villonodular synovitis    synovitis    histiocytosis
    pigmented villonodular synovitis    megakaryocytic leukemia    gastrointestinal stromal tumor    sarcoma
    acute myeloid leukemia    lung cancer

    4 diseases from the University of Copenhagen DISEASES database for CSF1R:
    Leukemia     Pigmented villonodular synovitis     Malignant histiocytosis     Giant cell tumor

    Find genes that share disorders with CSF1R           About GenesLikeMe

    Selected Novoseek inferred disease relationships for CSF1R gene (see all 64)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    5q- syndrome 67.6 3 9624537 (1), 1613006 (1)
    malignant histiocytosis 62.3 1 8352523 (1)
    myeloid leukemia 60.3 5 18337452 (1), 8462021 (1), 2214871 (1), 1942539 (1) (see all 5)
    leukemia 55 34 8493986 (3), 18337452 (2), 7845011 (2), 7950916 (2) (see all 16)
    myelodysplastic syndromes 52.2 6 7858491 (2), 8127154 (1), 7694008 (1), 1942539 (1)
    leukemogenesis 50.2 6 1518154 (1), 17960171 (1), 14654075 (1), 2154646 (1) (see all 5)
    bone destruction 45.7 2 18814279 (1), 17121910 (1)
    leukemia myelomonocytic acute 45.2 2 1831986 (1), 2154646 (1)
    preleukemia 43.3 1 1420444 (1)
    tumors 40.8 83 19846920 (5), 10419732 (4), 1825026 (3), 11775455 (2) (see all 49)

    Genetic Association Database (GAD): CSF1R
    Human Genome Epidemiology (HuGE) Navigator: CSF1R (15 documents)

    Export disorders for CSF1R gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CSF1R gene, integrated from 10 sources (see all 538):
    (articles sorted by number of sources associating them with CSF1R)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Inhibition of phosphorylation of the colony-stimulating factor-1 receptor (c-Fms) tyrosine kinase in transfected cells by ABT-869 and other tyrosine kinase inhibitors. (PubMed id 16648572)1, 2, 7, 9 Guo J.... Glaser K.B. (Mol. Cancer Ther. 2006)
    2. FMS receptor for M-CSF (CSF-1) is sensitive to the kinase inhibitor imatinib and mutation of Asp-802 to Val confers resistance. (PubMed id 16170366)1, 2, 7 Taylor J.R.... Dibb N.J. (Oncogene 2006)
    3. Autocrine CSF-1R activation promotes Src-dependent disruption of mammary epithelial architecture. (PubMed id 15117969)1, 2, 9 Wrobel C.N....Brugge J.S. (J. Cell Biol. 2004)
    4. Imatinib mesylate suppresses bone metastases of breast cancer by inhibiting osteoclasts through the blockade of c-Fms signals. (PubMed id 18814279)1, 2, 9 Hiraga T. and Nakamura H. (Int. J. Cancer 2009)
    5. [N-ras and fms gene mutation in idiopathic thrombocytopenic purpura and myelodysplasia]. (PubMed id 18788612)1, 4, 9 Zhao H.Y....Wang P. (Zhonghua Xue Ye Xue Za Zhi 2008)
    6. The 2.7 A crystal structure of the autoinhibited human c-Fms kinase domain. (PubMed id 17292918)1, 2, 9 Walter M.... Rossjohn J. (J. Mol. Biol. 2007)
    7. Expression of human colony-stimulating factor-1 (CSF-1) receptor in murine pluripotent hematopoietic NFS-60 cells induces long-term proliferation in response to CSF-1 without loss of erythroid differentiation potential. (PubMed id 7683918)1, 2, 9 Bourette R.P....Blanchet J.P. (Blood 1993)
    8. Novel splice variants derived from the receptor tyrosine kinase superfamily are potential therapeutics for rheumatoid arthritis. (PubMed id 18593464)1, 2, 9 Jin P.... Paleolog E.M. (Arthritis Res. Ther. 2008)
    9. Activation of Src family kinases by colony stimulating factor-1, and their association with its receptor. (PubMed id 7681396)1, 2, 9 Courtneidge S.A....Roussel M.F. (EMBO J. 1993)
    10. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. (PubMed id 22197934)1, 2 Rademakers R....Wszolek Z.K. (Nat. Genet. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1436 HGNC: 2433 AceView: PDGFRBandCSF1R Ensembl:ENSG00000182578 euGenes: HUgn1436
    ECgene: CSF1R Kegg: 1436 H-InvDB: CSF1R

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CSF1R Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CSF1R Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CSF1R gene:
    Search GeneIP for patents involving CSF1R

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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