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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CSF1
colony stimulating factor 1
Chromosome 1 · 1p13.3
NCBI Gene: 1435Ensembl: ENSG00000184371.15HGNC: HGNC:2432UniProt: P09603
284PubMed Papers
20Diseases
2Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
RESEARCH IMPACT
Trending
CLINICAL
Clinical Trials
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of cell population proliferationcytokine activityprotein homodimerization activityresponse to ischemiatype 2 diabetes mellitusmetabolic syndromeadult-onset Still's diseaseotosclerosis
✦AI Summary

CSF1 (colony-stimulating factor 1) is a cytokine essential for mononuclear phagocyte survival, proliferation, and differentiation, particularly of macrophages and monocytes. It promotes pro-inflammatory chemokine release and plays critical roles in innate immunity, bone resorption regulation, and fertility 1. CSF1 signaling through its cognate receptor CSF1R regulates macrophage polarization and function, with significant implications for cancer immunology. In cancer, CSF1 functions as a key mediator of immune escape. The PKCα/ZFP64/CSF1 axis drives anti-PD1 resistance in hepatocellular carcinoma by promoting M2 macrophage polarization and creating an immunosuppressive tumor microenvironment 2. Similarly, mutant p53 upregulates CSF1 expression via BRD4-dependent mechanisms to promote epithelial-to-mesenchymal transition and metastasis in esophageal squamous cell carcinoma 3. The osteopontin-CSF1-CSF1R axis facilitates tumor-associated macrophage trafficking and expansion in HCC, with therapeutic blockade sensitizing tumors to anti-PD-L1 therapy 4. CSF1-mediated macrophage recruitment and polarization also occurs in non-malignant diseases. In IgA nephropathy, mesangial cells express elevated CSF1 levels that drive macrophage infiltration and promote glomerulonephritis progression 5. In pancreatic cancer, alternative splicing regulation of CSF1 promotes M2 macrophage polarization through the IGF2BP2/CSF1/CSF1R axis 6. Therapeutically, CSF1/CSF1R axis inhibition represents a promising immunotherapy combination strategy across multiple cancer types 7.

Sources cited
1
It promotes pro-inflammatory chemokine release and plays critical roles in innate immunity, bone resorption regulation, and fertility .
PMID: 30930117
2
The PKCα/ZFP64/CSF1 axis drives anti-PD1 resistance in hepatocellular carcinoma by promoting M2 macrophage polarization and creating an immunosuppressive tumor microenvironment .
PMID: 35219791
3
Similarly, mutant p53 upregulates CSF1 expression via BRD4-dependent mechanisms to promote epithelial-to-mesenchymal transition and metastasis in esophageal squamous cell carcinoma .
PMID: 37676642
4
The osteopontin-CSF1-CSF1R axis facilitates tumor-associated macrophage trafficking and expansion in HCC, with therapeutic blockade sensitizing tumors to anti-PD-L1 therapy .
PMID: 30902885
5
In IgA nephropathy, mesangial cells express elevated CSF1 levels that drive macrophage infiltration and promote glomerulonephritis progression .
PMID: 38716725
6
In pancreatic cancer, alternative splicing regulation of CSF1 promotes M2 macrophage polarization through the IGF2BP2/CSF1/CSF1R axis .
PMID: 39616247
7
Therapeutically, CSF1/CSF1R axis inhibition represents a promising immunotherapy combination strategy across multiple cancer types .
PMID: 28716061
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.39Weak
metabolic syndromeOpen Targets
0.31Weak
adult-onset Still's diseaseOpen Targets
0.28Weak
otosclerosisOpen Targets
0.28Weak
breast cancerOpen Targets
0.13Weak
neoplasmOpen Targets
0.12Weak
triple-negative breast cancerOpen Targets
0.11Weak
rheumatoid arthritisOpen Targets
0.11Weak
gastric cancerOpen Targets
0.11Weak
secondary malignant neoplasmOpen Targets
0.11Weak
lung cancerOpen Targets
0.10Suggestive
gliomaOpen Targets
0.10Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
Alzheimer diseaseOpen Targets
0.09Suggestive
cancerOpen Targets
0.09Suggestive
non-small cell lung carcinomaOpen Targets
0.09Suggestive
ovarian cancerOpen Targets
0.08Suggestive
tenosynovial giant cell tumor, diffuse typeOpen Targets
0.08Suggestive
malignant pleural mesotheliomaOpen Targets
0.08Suggestive
response to statinOpen Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets2
MCS-110Phase II
Macrophage colony-stimulating factor 1 inhibitor
PD-360324Phase II
Macrophage colony-stimulating factor 1 inhibitor
rheumatoid arthritis
Related Genes
CCR2Protein interaction100%THOC5Protein interaction100%EGFRProtein interaction98%GRB2Protein interaction97%IL3Protein interaction96%TNFSF11Protein interaction96%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
56%
Ovary
55%
Liver
44%
Heart
43%
Brain
19%
Gene Interaction Network
Click a node to explore
CSF1CCR2THOC5EGFRGRB2IL3TNFSF11
PROTEIN STRUCTURE
Preparing viewer…
PDB5LXF · 2.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.34Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.19 [0.12–0.34]
RankingsWhere CSF1 stands among ~20K protein-coding genes
  • #1,270of 20,598
    Most Researched284 · top 10%
  • #1,441of 17,882
    Most Constrained (LOEUF)0.34 · top 10%
Genes detectedCSF1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Human Tumor-Associated Macrophage and Monocyte Transcriptional Landscapes Reveal Cancer-Specific Reprogramming, Biomarkers, and Therapeutic Targets.
PMID: 30930117
Cancer Cell · 2019
1.00
2
PKCα/ZFP64/CSF1 axis resets the tumor microenvironment and fuels anti-PD1 resistance in hepatocellular carcinoma.
PMID: 35219791
J Hepatol · 2022
0.90
3
Colony-stimulating factor 1 receptor (CSF1R) inhibitors in cancer therapy.
PMID: 28716061
J Immunother Cancer · 2017
0.80
4
p53 Gain-of-Function Mutation Induces Metastasis via BRD4-Dependent CSF-1 Expression.
PMID: 37676642
Cancer Discov · 2023
0.70
5
Pexidartinib: First Approval.
PMID: 31602563
Drugs · 2019
0.64