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CSF1 Gene

protein-coding   GIFtS: 65
GCID: GC01P110453

Colony Stimulating Factor 1 (Macrophage)

  See CSF1-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 (Macrophage)1 2     Macrophage Colony-Stimulating Factor 12
MCSF2 3 5     Lanimostim3
CSF-12 3     M-CSF3
lanimostim2     

External Ids:    HGNC: 24321   Entrez Gene: 14352   Ensembl: ENSG000001843717   OMIM: 1204205   UniProtKB: P096033   

Export aliases for CSF1 gene to outside databases

Previous GC identifers: GC01U990031 GC01P109555 GC01P109752 GC01P110165 GC01P110254 GC01P108322


(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 CSF1 Gene:
The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of
macrophages. The active form of the protein is found extracellularly as a disulfide-linked homodimer, and is
thought to be produced by proteolytic cleavage of membrane-bound precursors. The encoded protein may be involved
in development of the placenta. Alternate splicing results in multiple transcript variants. (provided by RefSeq,
Sep 2011)

GeneCards Summary for CSF1 Gene:
CSF1 (colony stimulating factor 1 (macrophage)) is a protein-coding gene. Diseases associated with CSF1 include tenosynovial giant cell tumor, and multicentric reticulohistiocytosis. GO annotations related to this gene include growth factor activity and protein homodimerization activity.

UniProtKB/Swiss-Prot: CSF1_HUMAN, P09603
Function: Cytokine that 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, 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 development. Required for
normal male and female fertility. Promotes reorganization of the actin cytoskeleton, regulates formation of
membrane ruffles, cell adhesion and cell migration. Plays a role in lipoprotein clearance

Gene Wiki entry for CSF1 (Macrophage colony-stimulating factor) 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_000001.10  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the CSF1 gene promoter:
         AP-1   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CSF1 promoter sequence
   Search Chromatin IP Primers for CSF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CSF1


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

Entrez Gene cytogenetic band: 1p13.3   Ensembl cytogenetic band:  1p13.3   HGNC cytogenetic band: 1p13.3

CSF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CSF1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P110453:  view genomic region     (about GC identifiers)

Start:
110,452,864 bp from pter      End:
110,473,614 bp from pter
Size:
20,751 bases      Orientation:
plus 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CSF1_HUMAN, P09603 (See protein sequence)
Recommended Name: Macrophage colony-stimulating factor 1 precursor  
Size: 554 amino acids; 60179 Da
Subunit: Homodimer or heterodimer; disulfide-linked. Interacts with CSF1R
5 PDB 3D structures from and Proteopedia for CSF1:
1HMC (3D)        3UEZ (3D)        3UF2 (3D)        4ADF (3D)        4FA8 (3D)    
Secondary accessions: A8K6J5 Q13130 Q14086 Q14806 Q5VVF3 Q5VVF4 Q9UQR8
Alternative splicing: 3 isoforms:  P09603-1   P09603-2   P09603-3   

Explore the universe of human proteins at neXtProt for CSF1: NX_P09603

Explore proteomics data for CSF1 at MOPED

Post-translational modifications: 

  • N- and O-glycosylated. Glycosylation and proteolytic cleavage yield different soluble forms. One high molecular
    weight soluble form is a proteoglycan containing chondroitin sulfate. O-glycosylated with core 1 or possibly core
    8 glycans. Isoform 1 is N- and O-glycosylated. Isoform 3 is only N-glycosylated1
  • Glycosylation2 at Asn154, Asn172, Ser256, Thr257, Thr266, Thr363, Thr365, Thr376, Thr383, Thr387,
                                 Ser391, Ser428, Ser430, Ser431, Ser433, Ser451, Ser461, Ser473, Thr477
  • Modification sites at PhosphoSitePlus

  • See CSF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_000748.3  NP_757349.1  NP_757350.1  NP_757351.1  

    ENSEMBL proteins: 
     ENSP00000434527   ENSP00000431547   ENSP00000349854   ENSP00000327513   ENSP00000433837  
     ENSP00000358817   ENSP00000407317   ENSP00000358816   ENSP00000342718  

    CSF1 Human Recombinant Protein Products:

    EMD Millipore Purified and/or Recombinant CSF1 Protein
    R&D Systems Recombinant & Natural Proteins for CSF1 (M-CSF)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for CSF1
    OriGene Protein Over-expression Lysate for CSF1
    OriGene MassSpec for CSF1
    OriGene Custom Protein Services for CSF1
    GenScript Purified and Recombinant Proteins for CSF1
    Novus Biologicals CSF1 Proteins
    Novus Biologicals CSF1 Lysates
    Sino Biological Recombinant Protein for CSF1
    Sino Biological Cell Lysate for CSF1
    ProSpec Recombinant Protein for CSF1
    Browse Proteins at Cloud-Clone Corp.

     
    eBioscience Proteins for CSF1: (see all 2
                        Human M-CSF Recombinant Carrier-Free 100 ug

    CSF1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of CSF1
    R&D Systems Antibodies for CSF1 (M-CSF)
    OriGene Antibodies for CSF1
    OriGene Custom Antibody Services for CSF1
    Novus Biologicals CSF1 Antibodies
    Abcam antibodies for CSF1
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for CSF1
    LSBio Antibodies in human, mouse, rat for CSF1

    CSF1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CSF1
    R&D Systems ELISAs for CSF1 (M-CSF)         (see all)
    GenScript Custom Assay Services for CSF1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for CSF1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR008001 MCSF-1
     IPR009079 4_helix_cytokine-like_core

    Graphical View of Domain Structure for InterPro Entry P09603

    ProtoNet protein and cluster: P09603

    1 Blocks protein domain: IPB008001 Macrophage colony stimulating factor-1


    Find genes that share domains with CSF1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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: CSF1_HUMAN, P09603
    Function: Cytokine that 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, 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 development. Required for
    normal male and female fertility. Promotes reorganization of the actin cytoskeleton, regulates formation of
    membrane ruffles, cell adhesion and cell migration. Plays a role in lipoprotein clearance

         Genatlas biochemistry entry for CSF1:
    colony-stimulating factor 1,60kDa,(macrophage),expressed in fibroblast,endothelium,epithelium with two
    alternatively spliced isoforms,homodimerizing

         Summary: 
    During embryonic development, CSF1 as signaling molecule affects the following cells:
    Blood: Monocytes (Peripheral Blood)
    Bone: Osteoclasts (Bone Marrow)

    CSF1 as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:
                
    Blood: Macrophage-like cells, Macrophage-like cells

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005125cytokine activity IDA10652277
    GO:0005157macrophage colony-stimulating factor receptor binding TAS2460758
    GO:0005515protein binding ----
    GO:0008083growth factor activity NAS1791839
    GO:0042803protein homodimerization activity IDA3264878
         
    Find genes that share ontologies with CSF1           About GenesLikeMe


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 4 alleles(MGI details for Csf1) (see all 22):
     behavior/neurological  cardiovascular system  cellular  craniofacial  endocrine/exocrine gland 
     growth/size/body  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  immune system 
     integument  limbs/digits/tail  liver/biliary system  mortality/aging  muscle 

    Find genes that share phenotypes with CSF1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Csf1tm1.2Sabw for CSF1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CSF1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CSF1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CSF1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CSF1

    miRNA
    Products:
        
    miRTarBase miRNAs that target CSF1:
    hsa-mir-30c-5p (MIRT047860), hsa-mir-130b-3p (MIRT006200), hsa-mir-505-3p (MIRT041071), hsa-mir-335-5p (MIRT016979), hsa-mir-30b-5p (MIRT046121), hsa-mir-130a-3p (MIRT004575), hsa-mir-148b-3p (MIRT007318)

    Block miRNA regulation of human, mouse, rat CSF1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CSF1 (see all 44):
    hsa-miR-4291 hsa-miR-1914* hsa-miR-513a-5p hsa-miR-128 hsa-miR-301a hsa-miR-28-5p hsa-miR-761 hsa-miR-130b
    SwitchGear 3'UTR luciferase reporter plasmidCSF1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CSF1
    Predesigned siRNA for gene silencing in human, mouse, rat CSF1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CSF1

    Clone
    Products:
         
    OriGene clones in human, mouse for CSF1 (see all 23)
    OriGene ORF clones in mouse, rat for CSF1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): CSF1 (NM_000757)
    Sino Biological Human cDNA Clone for CSF1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CSF1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CSF1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CSF1
    Browse ESI BIO Cell Lines and PureStem Progenitors for CSF1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CSF1


    (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
    CSF1_HUMAN, P09603: Cell membrane; Single-pass type I membrane protein
    CSF1_HUMAN, P09603: Processed macrophage colony-stimulating factor 1: Secreted, extracellular space
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane5
    cytoskeleton2
    nucleus2
    golgi apparatus1
    lysosome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA2460758
    GO:0005886plasma membrane IEA--
    GO:0016020membrane NAS2460758
    GO:0016021integral component of membrane IEA--
    GO:0043235receptor complex ISS19017797

    Find genes that share ontologies with CSF1           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 CSF1 About   (see all 17)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1PEDF Induced Signaling
    MIF Regulation of Innate Immune Cells0.94
    IL-6 Pathway0.61
    MIF Mediated Glucocorticoid Regulation0.94
    STAT3 Pathway0.47
    PEDF Induced Signaling0.73
    Endothelin-1 Signaling Pathway0.46
    all-trans-Retinoic Acid Signaling in Brain0.71
    Cytokine-cytokine receptor interaction0.43
    2ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    3Akt Signaling
    Akt Signaling0.60
    p38 Signaling0.60
    4PAK Pathway
    PAK Pathway0.56
    Antioxidant Action of Vitamin-C0.56
    5Ras signaling pathway
    Rap1 signaling pathway0.36
    Ras signaling pathway0.36


    Find genes that share SuperPaths with CSF1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CSF1 (see all 18)
        MSP-RON Signaling
    Endothelin-1 Signaling Pathway
    Molecular Mechanisms of Cancer
    Antioxidant Action of Vitamin-C
    Rho Family GTPases

    4 BioSystems Pathways for CSF1
        Cytokines and Inflammatory Response
    Integrins in angiogenesis
    Signaling events mediated by PTP1B
    Signaling events mediated by TCPTP



    Selected Kegg Pathways  (Kegg details for CSF1) (see all 8):
        Ras signaling pathway
    Rap1 signaling pathway
    Cytokine-cytokine receptor interaction
    PI3K-Akt signaling pathway
    Osteoclast differentiation

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CSF1 (see all 19): 
              Multiple Sclerosis in human mouse rat
              T-cell & B-cell Activation in human mouse rat
              Cell Motility in human mouse rat
              Breast Cancer in human mouse rat
              NFKB Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CSF1

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

    Selected Interacting proteins for CSF1 (P096033 ENSP000003275134) via UniProtKB, MINT, STRING, and/or I2D (see all 66)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TNFP013753, ENSP000003986984I2D: score=1 STRING: ENSP00000398698
    ENSG00000204490P013753I2D: score=1 
    ENSG00000206439P013753I2D: score=1 
    ENSG00000223952P013753I2D: score=1 
    ENSG00000228321P013753I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 32):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001503ossification IEA--
    GO:0001954positive regulation of cell-matrix adhesion ISS18566389
    GO:0002158osteoclast proliferation IEA--
    GO:0003006developmental process involved in reproduction ISS19017797
    GO:0006954inflammatory response IEA--

    Find genes that share ontologies with CSF1           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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CSF1

    Selected Novoseek inferred chemical compound relationships for CSF1 gene (see all 142)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rantes 62.2 52 17659436 (5), 14693736 (2), 9950608 (2), 7545059 (1) (see all 36)
    tyrosine 61.6 213 11372744 (5), 1851549 (3), 2160591 (3), 15894167 (3) (see all 99)
    tartrate 53.2 3 8976638 (1), 17203230 (1)
    gm-csf 50.7 15 9272647 (2), 7738650 (2), 1729261 (1), 12494899 (1) (see all 9)
    pixy321 50.2 5 7527667 (1), 8692093 (1), 7535842 (1)
    dexamethasone 45.2 65 8359233 (4), 1370208 (2), 11880043 (2), 10673396 (2) (see all 39)
    pge2 43.7 82 12678371 (5), 12010778 (4), 20001844 (4), 17342254 (4) (see all 31)
    molgramostim 42.1 1 15280930 (1)
    vegf 41.7 120 16443190 (10), 18724005 (7), 12890905 (6), 18852899 (6) (see all 43)
    thymidine 41.7 24 2159762 (2), 8567816 (2), 8336080 (1), 10382942 (1) (see all 14)



    Find genes that share compounds with CSF1           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 CSF1 gene (4 alternative transcripts): 
    NM_000757.5  NM_172210.2  NM_172211.3  NM_172212.2  

    Unigene Cluster for CSF1:

    Colony stimulating factor 1 (macrophage)
    Hs.173894  [show with all ESTs]
    Unigene Representative Sequence: NM_000757
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000527192 ENST00000525659 ENST00000357302 ENST00000329608(uc001dyw.4 uc021orj.1)
    ENST00000488198 ENST00000369802(uc001dyu.2) ENST00000420111 ENST00000369801
    ENST00000526001 ENST00000344188(uc001dyt.2 uc021ori.1)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CSF1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CSF1 (see all 44):
    hsa-miR-4291 hsa-miR-1914* hsa-miR-513a-5p hsa-miR-128 hsa-miR-301a hsa-miR-28-5p hsa-miR-761 hsa-miR-130b
    SwitchGear 3'UTR luciferase reporter plasmidCSF1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CSF1
    Predesigned siRNA for gene silencing in human, mouse, rat CSF1
    Clone
    Products:
         
    OriGene clones in human, mouse for CSF1 (see all 23)
    OriGene ORF clones in mouse, rat for CSF1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): CSF1 (NM_000757)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CSF1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CSF1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for CSF1
    OriGene qSTAR qPCR primer pairs in human, mouse for CSF1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CSF1
      QuantiTect SYBR Green Assays in human, mouse, rat CSF1
      QuantiFast Probe-based Assays in human, mouse, rat CSF1

    Additional mRNA sequence: 

    AB208952.1 AK291660.1 AK300401.1 AK311440.1 BC021117.1 JF803735.1 M64592.1 M76453.1 
    U22386.1 X05825.1 

    14 DOTS entries:

    DT.440766  DT.86846409  DT.100772555  DT.100784442  DT.99929429  DT.100784435  DT.100651564  DT.100687792 
    DT.95272910  DT.100044148  DT.100784438  DT.100784439  DT.121352239  DT.121352242 

    Selected AceView cDNA sequences (see all 159):

    CD672012 BM982646 CA306421 BQ008155 BU633480 BM543921 CA307991 CA309061 
    BI793126 BM273288 CD368307 BU624509 BQ879077 T29176 BM801900 BM740834 
    BU621318 NM_000757 CB122151 AW611769 CD516732 CD370464 NM_172210 CD365995 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CSF1 (see all 11)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b
    SP1:                                                              -                       -                                                   
    SP2:                                                              -                       -                                                   
    SP3:                                                              -                       -                 -                                 
    SP4:                                                              -     -     -           -                 -                                 
    SP5:        -     -                                                                                                                           


    ECgene alternative splicing isoforms for CSF1

    (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)
    About This Section

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    CSF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTTTTTTCA
    CSF1 Expression
    About this image


    CSF1 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
     
     Zygote (Early Embryonic Tissues)    fully expand to see all 2 entries
             Zygote Zygote
     
     Inner Cell Mass (Early Embryo)    fully expand to see all 2 entries
             Zygote Zygote
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Cardiac Fibroblasts Myocardium
     
     Trophoblast (Extraembryonic Tissues)    fully expand to see all 2 entries
             Zygote Zygote
     
     Fibroblasts
             Cardiac Fibroblasts Myocardium
    CSF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CSF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.173894
        Pathway & Disease-focused RT2 Profiler PCR Arrays including CSF1 (see all 19): 
              Multiple Sclerosis in human mouse rat
              T-cell & B-cell Activation in human mouse rat
              Cell Motility in human mouse rat
              Breast Cancer in human mouse rat
              NFKB Signaling Pathway in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat CSF1
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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 CSF1 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Csf11 , 5 colony stimulating factor 1 (macrophage)1, 5 80.58(n)1
    70.6(a)1
      3 (46.83 cM)5
    129771  NM_001113530.11  NP_001107002.11 
     1077410485 
    chicken
    (Gallus gallus)
    Aves CSF16
    colony stimulating factor 1 (macrophage)
    25(a)
    1 ↔ 1
    AADN03025397.1(21-2858)
    lizard
    (Anolis carolinensis)
    Reptilia CSF16
    colony stimulating factor 1 (macrophage)
    37(a)
    1 ↔ 1
    4(106203282-106211361)


    ENSEMBL Gene Tree for CSF1 (if available)
    TreeFam Gene Tree for CSF1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (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 CSF1 (see all 504)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs588827501,2
    C--110465348(+) CTGTG-/GCTGTG
            
    TGGCT
    4 -- int10--------
    rs1866964201,2
    --110524102(+) TGGGAC/GTAAAA 4 -- us2k10--------
    rs75379561,2
    C,F,A,H--110524103(+) GGGACT/AAAAAT 4 -- us2k1 tfbs310Minor allele frequency- A:0.28NA EA NS WA 582
    rs1489799891,2
    --110524268(+) CTTGGC/TCAGAG 4 -- us2k10--------
    rs1915251511,2
    --110524304(+) AGACAC/TGGGAA 4 -- us2k10--------
    rs1163500321,2
    C,F--110524363(+) ACCAAG/AGTCAA 4 -- us2k11Minor allele frequency- A:0.07WA 118
    rs1437381061,2
    --110524373(+) AATCAC/TTTGTA 4 -- us2k10--------
    rs757191651,2
    F--110524381(+) GTAAGT/CAGTGG 4 -- us2k11Minor allele frequency- C:0.02WA 118
    rs1481159611,2
    --110524389(+) TGGAGA/TCAGGT 4 -- us2k10--------
    rs3339511,2
    C,F,H--110524473(-) GAGGAG/ACGTAA 4 -- us2k135Minor allele frequency- A:0.26NS EA NA WA CSA 3210

    HapMap Linkage Disequilibrium report for CSF1 (110452864 - 110473614 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CSF1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2658285CNV Deletion23128226

    Human Gene Mutation Database (HGMD): CSF1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CSF1
    DNA2.0 Custom Variant and Variant Library Synthesis for CSF1

    (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: 120420    OMIM disorders: --

    UniProtKB/Swiss-Prot: CSF1_HUMAN, P09603
  • 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

  • 18 diseases for CSF1:    
    About MalaCards
    tenosynovial giant cell tumor    multicentric reticulohistiocytosis    stachybotrys chartarum    monocytic leukemia
    acute monocytic leukemia    malignant histiocytosis    idiopathic pulmonary alveolar proteinosis    synovitis
    giant cell tumor    pulmonary alveolar proteinosis    histiocytosis    blau syndrome
    chronic myelomonocytic leukemia    ocular cicatricial pemphigoid    villonodular synovitis    cherubism
    pigmented villonodular synovitis    ovarian cancer

    3 diseases from the University of Copenhagen DISEASES database for CSF1:
    Osteopetrosis     Pigmented villonodular synovitis     Giant cell tumor

    Find genes that share disorders with CSF1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for CSF1 gene (see all 90)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    necrosis 76.4 416 1809376 (2), 8336080 (2), 2009973 (2), 18668547 (2) (see all 99)
    osteopetrosis 67.5 23 1577090 (4), 16294279 (2), 8182336 (1), 11792569 (1) (see all 11)
    tumors 65.1 686 16631152 (8), 15944252 (6), 8981366 (5), 8271294 (5) (see all 99)
    bone destruction 56 2 16927019 (1), 16320327 (1)
    leukemia 55.8 89 10897214 (5), 7685751 (2), 2293419 (1), 7686393 (1) (see all 61)
    bone diseases 55.7 3 2146111 (1), 18045304 (1), 10962353 (1)
    myeloid leukemia 55.6 13 8405241 (2), 1373742 (2), 1381238 (1), 7515098 (1) (see all 10)
    osteolysis 55.4 7 17684931 (1), 18056041 (1), 20307736 (1), 10671521 (1) (see all 6)
    pulmonary alveolar proteinosis 55.1 8 16565598 (2), 16275889 (1), 10499925 (1), 18955570 (1) (see all 6)
    osteolytic 50.3 9 15101727 (1), 15550550 (1), 17200191 (1), 16927019 (1) (see all 6)

    Genetic Association Database (GAD): CSF1
    Human Genome Epidemiology (HuGE) Navigator: CSF1 (17 documents)

    Export disorders for CSF1 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 CSF1 gene, integrated from 10 sources (see all 1966):
    (articles sorted by number of sources associating them with CSF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Three-dimensional structure of dimeric human recombinant macrophage colony-stimulating factor. (PubMed id 1455231)1, 2, 9 Pandit J.... Kim S.H. (Science 1992)
    2. Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility &quot;hot-spot&quot;. (PubMed id 20628624)1, 4 Johnatty S.E.... . (PLoS Genet. 2010)
    3. Functional overlap but differential expression of CSF-1 and IL-34 in their CSF-1 receptor-mediated regulation of myeloid cells. (PubMed id 20504948)1, 2 Wei S.... Stanley E.R. (J. Leukoc. Biol. 2010)
    4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    5. Common polymorphisms in ITGA2, PON1 and THBS2 are associated with coronary atherosclerosis in a candidate gene association study of the Chinese Han population. (PubMed id 20485444)1, 4 Wang Y....Huang W. (J. Hum. Genet. 2010)
    6. Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone. (PubMed id 20436471)1, 4 Albagha O.M....Ralston S.H. (Nat. Genet. 2010)
    7. Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes. (PubMed id 20452482)1, 4 Romero R....Menon R. (Am. J. Obstet. Gynecol. 2010)
    8. A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM). (PubMed id 20673868)1, 4 Romero R....Menon R. (Am. J. Obstet. Gynecol. 2010)
    9. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (J. Bone Miner. Res. 2009)
    10. Frequencies of single nucleotide polymorphisms in genes regulating inflammatory responses in a community-based population. (PubMed id 17355643)1, 4 Huang H.Y....Helzlsouer K.J. (BMC Genet. 2007)

    (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: 1435 HGNC: 2432 AceView: CSF1 Ensembl:ENSG00000184371 euGenes: HUgn1435
    ECgene: CSF1 Kegg: 1435 H-InvDB: CSF1

    (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)
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    NameDescription
    PharmGKB entry for CSF1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CSF1 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 CSF1 gene:
    Search GeneIP for patents involving CSF1

    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, LSBio, eBioscience, 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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