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

Gene ID: 1435, updated on 12-Aug-2018

Summary

Official Symbol
CSF1provided by HGNC
Official Full Name
colony stimulating factor 1provided by HGNC
Primary source
HGNC:HGNC:2432
See related
Ensembl:ENSG00000184371 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]
Expression
Ubiquitous expression in placenta (RPKM 19.9), spleen (RPKM 19.7) and 25 other tissues See more
Orthologs

Genomic context

See CSF1 in Genome Data Viewer
Location:
1p13.3
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (109910506..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 NADH:ubiquinone oxidoreductase subunit A5 pseudogene 10 Neighboring gene long intergenic non-protein coding RNA 1768 Neighboring gene adenosylhomocysteinase like 1 Neighboring gene uncharacterized LOC105378895 Neighboring gene striatin interacting protein 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

HIV-1 interactions

Replication interactions

Interaction Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of CSF1 PubMed

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

Pathways from BioSystems

  • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
    Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
  • 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...
  • Development of pulmonary dendritic cells and macrophage subsets, organism-specific biosystem (from WikiPathways)
    Development of pulmonary dendritic cells and macrophage subsets, organism-specific biosystemDevelopment of pulmonary DC and macrophage subsets. This model of pulmonary DC and macrophage subset differentiation in mice summarizes recent findings suggesting early lineage commitment of cDCs in ...
  • Differentiation Pathway, organism-specific biosystem (from WikiPathways)
    Differentiation Pathway, organism-specific biosystemThis pathway provides an overview of the directed differentiation molecules used to induce early and derivative cell lineages from human pluripotent stem cells. The initial version of this pathway is...
  • Folate Metabolism, organism-specific biosystem (from WikiPathways)
    Folate Metabolism, organism-specific biosystem
    Folate Metabolism
  • Hematopoietic Stem Cell Differentiation, organism-specific biosystem (from WikiPathways)
    Hematopoietic Stem Cell Differentiation, organism-specific biosystemGrowth factors and miRNA regulating differentiation of hematopoietic stem cells (HSC) to various blood-related cell types. Note that myeloblasts branch off separately from erythrocytes and megakaryoc...
  • 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...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Integrins in angiogenesis, organism-specific biosystem (from Pathway Interaction Database)
    Integrins in angiogenesis, organism-specific biosystem
    Integrins in angiogenesis
  • Interleukin-10 signaling, organism-specific biosystem (from REACTOME)
    Interleukin-10 signaling, organism-specific biosystemInterleukin-10 (IL10) was originally described as a factor named cytokine synthesis inhibitory factor that inhibited T-helper (Th) 1 activation and Th1 cytokine production (Fiorentino et al. 1989). ...
  • 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 by Interleukins, organism-specific biosystem (from REACTOME)
    Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...
  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC31930

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytokine activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
identical protein binding IPI
Inferred from Physical Interaction
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 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
cytokine-mediated signaling pathway TAS
Traceable Author Statement
more info
 
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 IBA
Inferred from Biological aspect of Ancestor
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 
post-translational protein modification TAS
Traceable Author Statement
more info
 
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
 
regulation of signaling receptor activity 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 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
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 TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
macrophage colony-stimulating factor 1
Names
colony stimulating factor 1 (macrophage)
lanimostim
macrophage colony stimulating factor 1
NP_000748.3
NP_757349.1
NP_757350.1
NP_757351.1
XP_016855858.1

NCBI Reference Sequences (RefSeq)

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/Swiss-Prot
    P09603
    UniProtKB/TrEMBL
    A0A024R0A1
    Related
    ENSP00000327513.6, OTTHUMP00000013362, ENST00000329608.10, OTTHUMT00000032208
    Conserved Domains (2) summary
    pfam05337
    Location:41180
    CSF-1; Macrophage colony stimulating factor-1 (CSF-1)
    cl28033
    Location:194492
    Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region
  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
    Related
    ENSP00000358816.1, OTTHUMP00000013364, ENST00000369801.1, OTTHUMT00000032210
    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
    Related
    ENSP00000407317.2, OTTHUMP00000013365, ENST00000420111.6, OTTHUMT00000032211
    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/Swiss-Prot
    P09603
    UniProtKB/TrEMBL
    A0A024R0A1
    Related
    ENSP00000358817.3, OTTHUMP00000013363, ENST00000369802.7, OTTHUMT00000032209
    Conserved Domains (2) summary
    pfam05337
    Location:41180
    CSF-1; Macrophage colony stimulating factor-1 (CSF-1)
    cl28033
    Location:194492
    Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    109910506..109930994
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017000369.1XP_016855858.1  macrophage colony-stimulating factor 1 isoform X1

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