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    CSF1 colony stimulating factor 1 (macrophage) [ Homo sapiens (human) ]

    Gene ID: 1435, updated on 5-Jul-2015
    Official Symbol
    CSF1provided by HGNC
    Official Full Name
    colony stimulating factor 1 (macrophage)provided by HGNC
    Primary source
    HGNC:HGNC:2432
    See related
    Ensembl:ENSG00000184371; HPRD:00388; MIM:120420; Vega:OTTHUMG00000011646
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MCSF; CSF-1
    Summary
    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]
    Orthologs
    See CSF1 in Epigenomics, MapViewer
    Location:
    1p13.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (109910611..109930994)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (110453233..110473616)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene EPS8-like 3 Neighboring gene NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene Neighboring gene adenosylhomocysteinase-like 1 Neighboring gene uncharacterized LOC105378895 Neighboring gene striatin interacting protein 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.
    NHGRI GWA Catalog
    Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone.
    NHGRI GWA Catalog
    Genome-wide association study of sensory disturbances in the inferior alveolar nerve after bilateral sagittal split ramus osteotomy.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Gp120-induced M-CSF downregulates the TRAIL receptor TRAIL-R1/DR4 and upregulates the anti-apoptotic genes Bfl-1 and Mcl-1 PubMed
    env HIV-1 gp120 envelope protein induces macrophage colony-stimulating factor (M-CSF) in HIV-1-infected macrophages PubMed
    Tat tat HIV-1 Tat and RANKL/M-CSF enhance osteoclast differentiation and activity by increasing osteoclast differentiation markers, such as cathepsin K and calcitonin receptor, and TRAP PubMed
    tat Co-treatment of osteoblastic cells with HIV-1 Tat and RANKL/M-CSF upregulates c-fos expression and AP-1 activity PubMed
    Vif vif HIV-1 Vif upregulates the expression of colony stimulating factor 1 (CSF1) in Vif-expression T cells PubMed

    Go to the HIV-1, Human Interaction Database

    • Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • Cytokines and Inflammatory Response, organism-specific biosystem (from WikiPathways)
      Cytokines and Inflammatory Response, organism-specific biosystemInflammation is a protective response to infection by the immune system that requires communication between different classes of immune cells to coordinate their actions. Acute inflammation is an imp...
    • Hematopoietic cell lineage, organism-specific biosystem (from KEGG)
      Hematopoietic cell lineage, organism-specific biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
    • Hematopoietic cell lineage, conserved biosystem (from KEGG)
      Hematopoietic cell lineage, conserved biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
    • Integrins in angiogenesis, organism-specific biosystem (from Pathway Interaction Database)
      Integrins in angiogenesis, organism-specific biosystem
      Integrins in angiogenesis
    • Osteoclast differentiation, organism-specific biosystem (from KEGG)
      Osteoclast differentiation, organism-specific biosystemThe osteoclasts, multinucleared cells originating from the hematopoietic monocyte-macrophage lineage, are responsible for bone resorption. Osteoclastogenesis is mainly regulated by signaling pathways...
    • Osteoclast differentiation, conserved biosystem (from KEGG)
      Osteoclast differentiation, conserved biosystemThe osteoclasts, multinucleared cells originating from the hematopoietic monocyte-macrophage lineage, are responsible for bone resorption. Osteoclastogenesis is mainly regulated by signaling pathways...
    • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
      PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
    • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
      PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
    • Rap1 signaling pathway, organism-specific biosystem (from KEGG)
      Rap1 signaling pathway, organism-specific biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
    • Rap1 signaling pathway, conserved biosystem (from KEGG)
      Rap1 signaling pathway, conserved biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
    • Ras signaling pathway, organism-specific biosystem (from KEGG)
      Ras signaling pathway, organism-specific biosystemThe Ras proteins are GTPases that function as molecular switches for signaling pathways regulating cell proliferation, survival, growth, migration, differentiation or cytoskeletal dynamism. Ras prote...
    • Rheumatoid arthritis, organism-specific biosystem (from KEGG)
      Rheumatoid arthritis, organism-specific biosystemRheumatoid arthritis (RA) is a chronic autoimmune joint disease where persistent inflammation affects bone remodeling leading to progressive bone destruction. In RA, abnormal activation of the immune...
    • Rheumatoid arthritis, conserved biosystem (from KEGG)
      Rheumatoid arthritis, conserved biosystemRheumatoid arthritis (RA) is a chronic autoimmune joint disease where persistent inflammation affects bone remodeling leading to progressive bone destruction. In RA, abnormal activation of the immune...
    • Signaling events mediated by PTP1B, organism-specific biosystem (from Pathway Interaction Database)
      Signaling events mediated by PTP1B, organism-specific biosystem
      Signaling events mediated by PTP1B
    • Signaling events mediated by TCPTP, organism-specific biosystem (from Pathway Interaction Database)
      Signaling events mediated by TCPTP, organism-specific biosystem
      Signaling events mediated by TCPTP
    • TNF signaling pathway, organism-specific biosystem (from KEGG)
      TNF signaling pathway, organism-specific biosystemTumor necrosis factor (TNF), as a critical cytokine, can induce a wide range of intracellular signal pathways including apoptosis and cell survival as well as inflammation and immunity. Activated TNF...
    • TNF signaling pathway, conserved biosystem (from KEGG)
      TNF signaling pathway, conserved biosystemTumor necrosis factor (TNF), as a critical cytokine, can induce a wide range of intracellular signal pathways including apoptosis and cell survival as well as inflammation and immunity. Activated TNF...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC31930

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cytokine activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    growth factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    growth factor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    macrophage colony-stimulating factor receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    macrophage colony-stimulating factor receptor binding TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    branching involved in mammary gland duct morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    cell differentiation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cell proliferation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    developmental process involved in reproduction ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    hemopoiesis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    homeostasis of number of cells within a tissue IEA
    Inferred from Electronic Annotation
    more info
     
    inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    macrophage colony-stimulating factor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    macrophage differentiation TAS
    Traceable Author Statement
    more info
    PubMed 
    mammary duct terminal end bud growth IEA
    Inferred from Electronic Annotation
    more info
     
    mammary gland fat development IEA
    Inferred from Electronic Annotation
    more info
     
    monocyte activation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    osteoclast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    osteoclast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of Ras protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    positive regulation of cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cell proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of cell-matrix adhesion ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    positive regulation of cellular protein metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of macrophage chemotaxis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of macrophage colony-stimulating factor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of macrophage derived foam cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of macrophage differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of microglial cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of monocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    positive regulation of mononuclear cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of odontogenesis of dentin-containing tooth IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of osteoclast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    regulation of macrophage derived foam cell differentiation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    regulation of ossification IEA
    Inferred from Electronic Annotation
    more info
     
    transmembrane receptor protein tyrosine kinase signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    CSF1-CSF1R complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    macrophage colony-stimulating factor 1
    Names
    lanimostim
    NP_000748.3
    NP_757349.1
    NP_757350.1
    NP_757351.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_030008.1 RefSeqGene

      Range
      5001..25384
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000757.5NP_000748.3  macrophage colony-stimulating factor 1 isoform a precursor

      See identical proteins and their annotated locations for NP_000748.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
      Source sequence(s)
      AI758702, AL450468, BC021117, DA414355
      Consensus CDS
      CCDS816.1
      UniProtKB/TrEMBL
      A0A024R0A1
      UniProtKB/Swiss-Prot
      P09603
      Related
      ENSP00000327513, OTTHUMP00000013362, ENST00000329608, OTTHUMT00000032208
      Conserved Domains (1) summary
      pfam05337
      Location:272554
      CSF-1; Macrophage colony stimulating factor-1 (CSF-1)
    2. NM_172210.2NP_757349.1  macrophage colony-stimulating factor 1 isoform b precursor

      See identical proteins and their annotated locations for NP_757349.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame segment compared to variant 1, resulting in a shorter isoform (b) compared to isoform a.
      Source sequence(s)
      BC021117, DA414355, M27087, U22386
      Consensus CDS
      CCDS817.1
      UniProtKB/Swiss-Prot
      P09603
      Conserved Domains (1) summary
      pfam05337
      Location:1254
      CSF-1; Macrophage colony stimulating factor-1 (CSF-1)
    3. NM_172211.3NP_757350.1  macrophage colony-stimulating factor 1 isoform c precursor

      See identical proteins and their annotated locations for NP_757350.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame segment compared to variant 1, resulting in a shorter isoform (c) compared to isoform a.
      Source sequence(s)
      AI758702, AL450468, BC021117, DA414355, M76453
      Consensus CDS
      CCDS30797.1
      UniProtKB/Swiss-Prot
      P09603
      Conserved Domains (1) summary
      pfam05337
      Location:1256
      CSF-1; Macrophage colony stimulating factor-1 (CSF-1)
    4. NM_172212.2NP_757351.1  macrophage colony-stimulating factor 1 isoform a precursor

      See identical proteins and their annotated locations for NP_757351.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 3' UTR compared to variant 1. Both variants 1 and 4 encode isoform a.
      Source sequence(s)
      AL450468, BC021117, DA414355, DB287787, M27087
      Consensus CDS
      CCDS816.1
      UniProtKB/TrEMBL
      A0A024R0A1
      UniProtKB/Swiss-Prot
      P09603
      Related
      ENSP00000358817, OTTHUMP00000013363, ENST00000369802, OTTHUMT00000032209
      Conserved Domains (1) summary
      pfam05337
      Location:272554
      CSF-1; Macrophage colony stimulating factor-1 (CSF-1)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

      Range
      109910611..109930994
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      110568036..110588399
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)