CSF1
gene geneOn this page
Also known as M-CSFMCSFMGC31930
Summary
CSF1 (colony stimulating factor 1, HGNC:2432) is a protein-coding gene on chromosome 1p13.3, encoding Macrophage colony-stimulating factor 1 (P09603). 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.
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.
Source: NCBI Gene 1435 — RefSeq curated summary.
At a glance
- GWAS associations: 25 (top 5% of genes corpus-wide)
- Clinical variants (ClinVar): 103 total
- GTEx eGene: eQTL in 22 tissues, sQTL in 3 (q < 0.05)
- Drug target: yes — 2 curated mechanism-of-action drugs
- Constraint (gnomAD): pLI 1.00 (loss-of-function intolerant), LOEUF 0.34 (highly constrained)
- MANE Select transcript:
NM_000757 - Interaction hub: 3,416 STRING partners (top 2% of genes corpus-wide)
- Notable: 103 clinical variants but no curated precision-oncology (CIViC) evidence yet
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2432 |
| Approved symbol | CSF1 |
| Name | colony stimulating factor 1 |
| Location | 1p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | M-CSF, MCSF, MGC31930 |
| Ensembl gene | ENSG00000184371 |
| Ensembl biotype | protein_coding |
| OMIM | 120420 |
| Entrez | 1435 |
Gene structure
Transcript identifiers
Ensembl transcripts: 21 — 18 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
MANE Select: ENST00000329608
Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 3, TSL 3: 2, TSL 4: 3, TSL 5: 1
ENST00000329608, ENST00000357302, ENST00000369801, ENST00000369802, ENST00000420111, ENST00000488198, ENST00000525659, ENST00000526001, ENST00000527192, ENST00000875282, ENST00000875283, ENST00000875284, ENST00000875285, ENST00000875286, ENST00000875287, ENST00000913371, ENST00000958976, ENST00001012642, ENST00001012643, ENST00001012644, ENST00001142243
RefSeq mRNA: 4 — MANE Select: NM_000757
NM_000757, NM_172210, NM_172211, NM_172212
CCDS: CCDS30797, CCDS816, CCDS817
Canonical transcript exons
ENST00000329608 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001291595 | 109924776 | 109924828 |
| ENSE00001304095 | 109915634 | 109915696 |
| ENSE00001310214 | 109925147 | 109925202 |
| ENSE00001321883 | 109923166 | 109924190 |
| ENSE00001933966 | 109910849 | 109911062 |
| ENSE00001937307 | 109928852 | 109930992 |
| ENSE00003576195 | 109917293 | 109917463 |
| ENSE00003586257 | 109921847 | 109921994 |
| ENSE00003669519 | 109914259 | 109914381 |
Expression profiles
Bgee: expression breadth ubiquitous, 223 present calls, max score 94.58.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.5367 / max 1625.0135, expressed in 1560 samples.
Highest expression (Bgee): omental fat pad, peritoneum, adipose tissue of abdominal region, gall bladder, subcutaneous adipose tissue.
Genetic regulation across tissues (GTEx eQTL / sQTL)
CSF1 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 22 tissues and its splicing (sQTL) in 3 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.
showing 20 of 25 significant tissue × QTL associations:
| Tissue | QTL | q-value | Slope | Lead variant |
|---|---|---|---|---|
| Artery Tibial | eqtl | 3.7e-20 | +0.40 | 1:109928142:G:A |
| Cells Cultured fibroblasts | sqtl | 1.4e-18 | +0.58 | 1:109923716:C:A |
| Nerve Tibial | eqtl | 7.9e-18 | +0.37 | 1:109928142:G:A |
| Breast Mammary Tissue | eqtl | 9.5e-09 | +0.28 | 1:109928142:G:A |
| Esophagus Muscularis | eqtl | 6.6e-07 | +0.20 | 1:109928142:G:A |
| Skin Sun Exposed Lower leg | eqtl | 2.5e-06 | +0.17 | 1:109928142:G:A |
| Brain Cerebellar Hemisphere | eqtl | 6.5e-06 | +0.45 | 1:109941642:G:T |
| Muscle Skeletal | eqtl | 8.4e-06 | +0.20 | 1:109928142:G:A |
| Adipose Subcutaneous | eqtl | 1.0e-04 | +0.23 | 1:109928142:G:A |
| Artery Aorta | eqtl | 1.5e-04 | +0.22 | 1:109928142:G:A |
| Cells Cultured fibroblasts | eqtl | 1.9e-04 | +0.08 | 1:109821653:T:G |
| Esophagus Mucosa | eqtl | 6.2e-04 | -0.11 | 1:109960674:T:C |
| Lung | eqtl | 6.2e-04 | +0.16 | 1:109927970:G:A |
| Thyroid | eqtl | 4.0e-03 | +0.17 | 1:109928142:G:A |
| Heart Left Ventricle | eqtl | 5.4e-03 | +0.14 | 1:109927970:G:A |
| Small Intestine Terminal Ileum | eqtl | 6.6e-03 | +3.39 | 1:109929951:G:A |
| Skin Not Sun Exposed Suprapubic | eqtl | 6.6e-03 | +0.14 | 1:109928142:G:A |
| Brain Cortex | eqtl | 8.2e-03 | -1.05 | 1:110117816:C:T |
| Esophagus Gastroesophageal Junction | eqtl | 1.2e-02 | +0.16 | 1:109928142:G:A |
| Brain Hypothalamus | eqtl | 1.5e-02 | +1.79 | 1:110234735:T:C |
FANTOM5 promoters
9 alternative TSS:
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 4462 | 18.9658 | 1383 |
| 4461 | 1.8499 | 1002 |
| 4460 | 1.4640 | 817 |
| 4463 | 1.1077 | 608 |
| 4459 | 0.5560 | 309 |
| 4469 | 0.3023 | 148 |
| 4470 | 0.1475 | 52 |
| 4465 | 0.0807 | 20 |
| 4464 | 0.0627 | 10 |
Top tissues by expression
showing 100 of 271 tissues by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| omental fat pad | UBERON:0010414 | 94.58 | gold quality |
| peritoneum | UBERON:0002358 | 94.52 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 93.68 | gold quality |
| gall bladder | UBERON:0002110 | 93.05 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 92.98 | gold quality |
| right coronary artery | UBERON:0001625 | 92.82 | gold quality |
| apex of heart | UBERON:0002098 | 92.67 | gold quality |
| left adrenal gland | UBERON:0001234 | 92.60 | gold quality |
| left coronary artery | UBERON:0001626 | 92.54 | gold quality |
| cartilage tissue | UBERON:0002418 | 92.54 | gold quality |
| right adrenal gland | UBERON:0001233 | 92.43 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 92.42 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 92.40 | gold quality |
| endometrium epithelium | UBERON:0004811 | 92.27 | silver quality |
| coronary artery | UBERON:0001621 | 92.07 | gold quality |
| adrenal cortex | UBERON:0001235 | 91.77 | gold quality |
| left uterine tube | UBERON:0001303 | 91.58 | gold quality |
| pancreatic ductal cell | CL:0002079 | 91.26 | silver quality |
| upper lobe of left lung | UBERON:0008952 | 91.24 | gold quality |
| spleen | UBERON:0002106 | 90.82 | gold quality |
| adrenal gland | UBERON:0002369 | 90.73 | gold quality |
| tibial nerve | UBERON:0001323 | 90.47 | gold quality |
| adipose tissue | UBERON:0001013 | 90.41 | gold quality |
| upper lobe of lung | UBERON:0008948 | 90.37 | gold quality |
| ascending aorta | UBERON:0001496 | 90.18 | gold quality |
| thoracic aorta | UBERON:0001515 | 90.14 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 89.98 | gold quality |
| connective tissue | UBERON:0002384 | 89.92 | gold quality |
| synovial joint | UBERON:0002217 | 89.31 | gold quality |
| mucosa of stomach | UBERON:0001199 | 89.15 | gold quality |
| lymph node | UBERON:0000029 | 89.04 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 88.96 | gold quality |
| right atrium auricular region | UBERON:0006631 | 88.96 | gold quality |
| aorta | UBERON:0000947 | 88.90 | gold quality |
| right ovary | UBERON:0002118 | 88.67 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 88.64 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 88.58 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 88.48 | gold quality |
| colonic epithelium | UBERON:0000397 | 88.44 | gold quality |
| lower esophagus | UBERON:0013473 | 88.43 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 88.37 | gold quality |
| spinal cord | UBERON:0002240 | 88.08 | gold quality |
| tibial artery | UBERON:0007610 | 88.07 | gold quality |
| popliteal artery | UBERON:0002250 | 88.06 | gold quality |
| right lung | UBERON:0002167 | 87.70 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 87.63 | gold quality |
| cardiac atrium | UBERON:0002081 | 87.59 | gold quality |
| vermiform appendix | UBERON:0001154 | 87.27 | gold quality |
| body of stomach | UBERON:0001161 | 87.14 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 87.12 | gold quality |
| caecum | UBERON:0001153 | 87.01 | gold quality |
| heart left ventricle | UBERON:0002084 | 86.81 | gold quality |
| heart | UBERON:0000948 | 86.80 | gold quality |
| body of uterus | UBERON:0009853 | 86.76 | gold quality |
| cardiac ventricle | UBERON:0002082 | 86.73 | gold quality |
| fundus of stomach | UBERON:0001160 | 86.70 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 86.69 | gold quality |
| ectocervix | UBERON:0012249 | 86.65 | gold quality |
| transverse colon | UBERON:0001157 | 86.63 | gold quality |
| rectum | UBERON:0001052 | 86.61 | gold quality |
| vena cava | UBERON:0004087 | 86.61 | gold quality |
| endocervix | UBERON:0000458 | 86.52 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 86.43 | gold quality |
| sigmoid colon | UBERON:0001159 | 86.28 | gold quality |
| sural nerve | UBERON:0015488 | 86.11 | gold quality |
| metanephros cortex | UBERON:0010533 | 86.09 | gold quality |
| olfactory bulb | UBERON:0002264 | 86.07 | silver quality |
| stromal cell of endometrium | CL:0002255 | 85.95 | gold quality |
| left ovary | UBERON:0002119 | 85.92 | gold quality |
| small intestine | UBERON:0002108 | 85.88 | gold quality |
| colon | UBERON:0001155 | 85.68 | gold quality |
| stomach | UBERON:0000945 | 85.66 | gold quality |
| thyroid gland | UBERON:0002046 | 85.60 | gold quality |
| minor salivary gland | UBERON:0001830 | 85.59 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 85.45 | gold quality |
| esophagus | UBERON:0001043 | 85.26 | gold quality |
| large intestine | UBERON:0000059 | 85.18 | gold quality |
| intestine | UBERON:0000160 | 85.10 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 85.10 | gold quality |
| heart right ventricle | UBERON:0002080 | 85.07 | silver quality |
| skin of leg | UBERON:0001511 | 85.03 | gold quality |
| lung | UBERON:0002048 | 85.00 | gold quality |
| corpus callosum | UBERON:0002336 | 84.72 | gold quality |
| type B pancreatic cell | CL:0000169 | 84.71 | gold quality |
| substantia nigra | UBERON:0002038 | 84.56 | gold quality |
| calcaneal tendon | UBERON:0003701 | 84.54 | gold quality |
| myometrium | UBERON:0001296 | 84.49 | gold quality |
| right uterine tube | UBERON:0001302 | 84.36 | gold quality |
| mouth mucosa | UBERON:0003729 | 84.31 | gold quality |
| urinary bladder | UBERON:0001255 | 84.16 | gold quality |
| cardia of stomach | UBERON:0001162 | 84.08 | silver quality |
| midbrain | UBERON:0001891 | 84.04 | gold quality |
| pericardium | UBERON:0002407 | 83.91 | gold quality |
| vagina | UBERON:0000996 | 83.83 | gold quality |
| mammary duct | UBERON:0001765 | 83.75 | silver quality |
| body of pancreas | UBERON:0001150 | 83.24 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 83.22 | silver quality |
| right lobe of liver | UBERON:0001114 | 83.17 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 83.16 | silver quality |
| skin of abdomen | UBERON:0001416 | 83.12 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-6 | yes | 46.66 |
| E-CURD-122 | yes | 8.69 |
| E-ANND-3 | no | 0.00 |
HPA expression
RNA tissue specificity: Low tissue specificity
showing 60 of 76 HPA tissues / cells by nTPM:
| Tissue / cell | Axis | nTPM |
|---|---|---|
| Adipose tissue | tissue | 57.4 |
| Choroid plexus | tissue | 50.3 |
| Placenta | tissue | 38.8 |
| Spleen | tissue | 38.6 |
| Locus coeruleus | tissue | 35.0 |
| Spinal cord | tissue | 30.8 |
| Vagina | tissue | 30.1 |
| Gallbladder | tissue | 29.9 |
| Hippocampus | tissue | 28.6 |
| Adrenal gland | tissue | 28.4 |
| Corpus callosum | tissue | 28.0 |
| Lung | tissue | 26.7 |
| Lymph node | tissue | 26.4 |
| Urinary bladder | tissue | 24.9 |
| Nucleus accumbens | tissue | 24.6 |
| Appendix | tissue | 23.1 |
| Substantia nigra | tissue | 19.6 |
| Medulla oblongata | tissue | 19.5 |
| Colon | tissue | 18.7 |
| Breast | tissue | 18.4 |
| Fallopian tube | tissue | 17.9 |
| Salivary gland | tissue | 17.8 |
| Bone marrow | tissue | 17.4 |
| Superior colliculi | tissue | 17.0 |
| Small intestine | tissue | 16.6 |
| Pancreas | tissue | 16.5 |
| Smooth muscle | tissue | 16.4 |
| Midbrain | tissue | 16.2 |
| Seminal vesicle | tissue | 15.7 |
| Cervix | tissue | 15.4 |
| Rectum | tissue | 15.3 |
| Liver | tissue | 15.1 |
| Esophagus | tissue | 14.7 |
| Postcentral gyrus | tissue | 14.0 |
| Stomach 1 | tissue | 13.8 |
| Thalamus | tissue | 13.7 |
| Periaqueductal gray | tissue | 13.7 |
| Heart muscle | tissue | 12.8 |
| Thymus | tissue | 12.6 |
| Duodenum | tissue | 12.5 |
| Endometrium 1 | tissue | 12.3 |
| Pons | tissue | 11.9 |
| Ovary | tissue | 11.7 |
| Hypothalamus | tissue | 11.7 |
| Tonsil | tissue | 11.4 |
| Skin 1 | tissue | 11.3 |
| Tongue | tissue | 10.5 |
| Putamen | tissue | 10.2 |
| Prostate | tissue | 10.1 |
| Ventral forebrain | tissue | 10.1 |
| Septum | tissue | 10.0 |
| Parathyroid gland | tissue | 9.9 |
| Basal ganglia | tissue | 9.7 |
| Hippocampal formation | tissue | 9.1 |
| Pituitary gland | tissue | 8.8 |
| Frontal cortex | tissue | 8.6 |
| Olfactory bulb | tissue | 8.0 |
| Caudate putamen | tissue | 8.0 |
| Amygdala | tissue | 7.4 |
| Kidney | tissue | 7.3 |
Brain sub-regions (HPA Brain Atlas): detected in 189; highest nTPM — Parieto-temporal junction (white matter) (75.1), Area postrema (71.0), Corpus callosum, genu (white matter) (68.0), Dorsal funiculus (white matter) (66.4), Nucleus gracilis (63.4).
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
2 targets:
| Target | Regulation |
|---|---|
| CCL2 | Activation |
| ITGAX | Activation |
Upstream regulators (CollecTRI, top): ABL1, AP1, ATF3, BCL6, CCL2, CEBPA, EGR1, ETS2, FOS, FOXC1, GFI1, HLX, JUN, MITF, MYC, NCOA1, NFIA, NFIC, NFKB1, NFKB, NOTCH1, PHF5A, PPARG, RBPJ, REL, RELA, RUNX1, SMAD1, SMAD4, SMAD5, SMARCB1, SP1, SP3, SPI1, STAT1, TBP, TBX3, TFAP2A, TP63, TXK
miRNA regulators (miRDB)
Targeting CSF1 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).
showing 30 of 138 miRNAs:
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-454-3P | 99.91 | 74.01 | 1925 |
| HSA-MIR-4295 | 99.90 | 73.11 | 1838 |
| HSA-MIR-130A-3P | 99.90 | 73.31 | 1861 |
| HSA-MIR-130B-3P | 99.90 | 73.27 | 1850 |
| HSA-MIR-301A-3P | 99.90 | 73.15 | 1839 |
| HSA-MIR-301B-3P | 99.90 | 73.19 | 1836 |
| HSA-MIR-3666 | 99.90 | 73.24 | 1833 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
Functional genomics
gnomAD constraint: pLI 1, LOEUF 0.338, missense Z 0.493 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD
Regional missense constraint (gnomAD)
ENST00000329608 splits into 3 regions with different missense tolerance; 0 are missense-constrained. Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD
| Region (GRCh38) | Missense obs / exp | o/e | Constrained |
|---|---|---|---|
| 1:109,911,024–109,914,327 | 53 / 45.5 | 1.17 | no |
| 1:109,914,328–109,917,323 | 28 / 58.8 | 0.48 | no |
| 1:109,917,324–109,925,186 | 591 / 593.6 | 1.00 | no |
Literature-anchored findings (GeneRIF, showing 40)
- Macrophage colony-stimulating factor and receptor activator NF-kappaB ligand fail to rescue osteoclast-poor human malignant infantile osteopetrosis in vitro. (PMID:11792569)
- High M-CSF levels may correlate with cellular or organ damage in patients treated with peripheral blood stem cell transplantation for hematologic diseases. (PMID:11843897)
- Opposite effects of different doses of MCSF on ERK phosphorylation and cell proliferation in macrophages. (PMID:12032835)
- CSF-1 and its receptor are regulated by 1,25(OH)(2)D(3) and its analogue tacalcitol in human monocytes which parallels the inhibition of differentiation into dendritic cells without altering survival (PMID:12372416)
- IFN-gamma shifts monocyte differentiation to macrophages rather than DCs through autocrine M-CSF and IL-6 production. (PMID:12393446)
- in human tumor cells, HGF and M-CSF stimulate osteopontin production (which is subsequently used as a substrate for cell adhesion) (PMID:12456016)
- Time-dependent folding events reveal that recombinant MCSF beta molecules pass through both monomeric and dimeric intermediate states, suggesting that the denatured and dimeric bond-reduced protein folds via multiple pathways. (PMID:12501178)
- macrophage colony-stimulating factor increased platelet-activating factor acetylhydrolase secretion by decidual macrophages (PMID:12548211)
- Results suggest that macrophage colony-stimulating factor may autoregulate functional cellular subpopulations of human endometrial stromal cells in an autocrine or a paracrine manner. (PMID:12684699)
- findings directly support the conclusion that membrane-bound colony stimulating factor-1 is functionally active in bone in vivo (PMID:12865350)
- Serum VEGF concentration was increased in arteriosclerosis obliterans (ASO) and thromboangitis obliterans, but increased concentration of M-CSF was seen only in ASO. (PMID:12890905)
- CSF1 has a role in regulating macrophage activation [review] (PMID:12894871)
- Monocytes promote angiogenesis via M-CSF-induced vascular endothelial growth factor production. (PMID:12928417)
- sCSF-1 is a key determinant of bone cell activity in the corticoendosteal envelope (PMID:12929928)
- increased levels of serum macrophage colony stimulating factor markedly precede the development of clinical manifestations of preeclampsia (PMID:14605992)
- Increase in serum M-CSF levels precedes development of preeclampsia. Elevation of serum M-CSF supports M-CSF elevation in placenta. This elevation at 18 weeks of gestation may be related to placental hypoxia, considered cause of preeclampsia. (PMID:14634568)
- findings of co-expression of KIT and/or FMS with their respective ligands implies these receptors might contribute to leukemogenesis in some patients with AML through autocrine, paracrine, or intracrine interactive stimulation. (PMID:14654075)
- The serum M-CSF concentration could be of interest as a tumor marker in squamous cell carcinomas of the head and neck. (PMID:15001836)
- red blood cells from diabetic patients induced an increase in MCSF and VCAM1 expression in HUVEC cells, mediated by AGE-RAGE interaction (PMID:15116247)
- Expreeeion of macrophage colony-stimulating factor in human osteoblast-like cells is suppressed by arginine-vasopressin. (PMID:15256272)
- results suggest that nuclear actin plays a role in regulating CSF-1 gene transcription, and this role does not depend on actin polymerization (PMID:15261158)
- In vitro human osteoclastogenesis is dependent on M-CSF and the stimulatory effects of GM-CSF are mediated by M-CSF. (PMID:15358207)
- Crystal structures of HLA-B*3501 in complex with 14-mer macrophage-colony stimulating factor peptide reveal that the antigenic peptide follows the general rules of major histocompatibility complex binding. (PMID:15494511)
- The MGFS mRNA expression in these cell lines and recent studies have demonstrated that HCs can stimulate tumor progression. (PMID:15576295)
- Interferon-gamma stimulates transcription of the CSF-1 gene through this sequence, which binds STAT1 (PMID:15624698)
- A significant serum tumor marker in head and neck squamous cell carcinoma. (PMID:15640942)
- Serum M-CSF levels are markedly increased in Langerhans cell histiocytosis patients who, in addition to bone disease, also show skin or lymph node involvement. (PMID:15728521)
- indicate novel roles of M-CSF in articular cartilage metabolism in collaboration with CTGF/CCN2, particularly during an inflammatory response (PMID:15820145)
- The M-CSF gene was cloned into baculovirus transfer vector pVL1392 under the control of polyhedrin promoter and expressed in the Sf9 cells (Spodoptera frugiperda). (PMID:15866728)
- Uncreased macrophage colony stimulating factor is associated with the process of atherosclerosis in hemodialysis patients (PMID:15919699)
- M-CSF enhances tumor growth in mice by increasing endothelial progenitor cells and activating angiogenesis; the effects of M-CSF are largely based on the induction of systemic VEGF from skeletal muscles. (PMID:15944252)
- catalase has a critical role in CSF-independent survival of human macrophages via regulation of the expression of BCL-2 and BCL-XL (PMID:16204228)
- INI1/hSNF5/BAF47 functions in activation of the colony stimulating factor 1 (CSF1) promoter in HeLa cells. (PMID:16267391)
- MCP-1 and M-CSF, critical for monocyte recruitment, activation, and differentiation, differentially regulate VEGF-A expression and may play an important role in monocyte/macrophage- mediated tumor angiogenesis (PMID:16318581)
- Nurse-like cells are involved in rheumatoid arthritis-induced bone destruction by maintaining osteoclast precursors via production of M-CSF. (PMID:16320327)
- Fusion with COL6A3 overexpresses CSF1, found in some but not all cells in tenosynovial giant-cell tumor and pigmented villonodular synovitis. (PMID:16407111)
- at 35 and 38 weeks, the Macrophage colony-stimulating factor (M-CSF) levels were significantly higher in twin pregnancy than in singleton pregnancy (PMID:16673212)
- three polymorphisms located in the colony stimulating factor 1 (CSF1) gene showed a positive association with aggressive periodontitis (PMID:16844084)
- IL-10 may contribute to the inflammatory process by facilitating monocyte differentiation into TNF-alpha-responsive macrophages in the presence of M-CSF in rheumatoid arthritis. (PMID:16859503)
- Different individual CSF-1 isoforms regulate the frequency of activated macrophages in the kidney during experimental unilateral ureteral obstruction. (PMID:16951369)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | csf1b | ENSDARG00000068263 |
| danio_rerio | csf1a | ENSDARG00000075343 |
| mus_musculus | Csf1 | ENSMUSG00000014599 |
| rattus_norvegicus | Csf1 | ENSRNOG00000018659 |
Mouse-model phenotypes
Observed phenotypes of the mouse ortholog (MGI:1339753) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 133 distinct phenotype terms.
| Mouse phenotype (MP) | Records |
|---|---|
| decreased macrophage cell number | 6 |
| decreased body weight | 4 |
| abnormal bone marrow morphology | 4 |
| decreased osteoclast cell number | 4 |
| abnormal bone marrow cavity morphology | 3 |
| domed cranium | 3 |
| abnormal osteoclast differentiation | 3 |
| increased bone trabecula number | 3 |
| osteopetrosis | 2 |
| abnormal trabecular bone morphology | 2 |
| abnormal microglial cell morphology | 2 |
| decreased monocyte cell number | 2 |
| decreased bone marrow cell number | 2 |
| postnatal growth retardation | 2 |
| abnormal ovulation | 2 |
| abnormal spleen red pulp morphology | 2 |
| abnormal bone remodeling | 2 |
| abnormal bone structure | 2 |
| abnormal osteoclast morphology | 2 |
| abnormal Kupffer cell morphology | 2 |
| abnormal visual evoked potential | 2 |
| absent teeth | 2 |
| fragile skeleton | 1 |
| osteoporosis | 1 |
| abnormal parietal bone morphology | 1 |
+108 more (showing top 25).
Genomic neighbors (locus context)
Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).
| Symbol | Type | Entrez |
|---|---|---|
| LINC01768 | ncRNA | 107985167 |
| GSTM3 | protein-coding | 2947 |
| EPS8L3 | protein-coding | 79574 |
| LINC01397 | ncRNA | 104355139 |
| AHCYL1 | protein-coding | 10768 |
| ALX3 | protein-coding | 257 |
| STRIP1 | protein-coding | 85369 |
Protein
Protein identifiers
Macrophage colony-stimulating factor 1 — P09603 (reviewed: P09603)
Alternative names: Lanimostim, Proteoglycan macrophage colony-stimulating factor
All UniProt accessions (5): E9PJA2, E9PKP4, E9PQ08, P09603, H7BY18
UniProt curated annotations — full annotation on UniProt →
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 pro-inflammatory 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.
Subunit / interactions. Homodimer or heterodimer; disulfide-linked. Likely to exist in multiple forms: homodimer consisting of 2 identical 150-200 kDa proteoglycan subunits, heterodimer consisting of a 150-200 kDa proteoglycan subunit and a truncated 43 kDa subunit, and homodimer consisting of 2 identical 43 kDa subunits. Interacts with CSF1R.
Subcellular location. Cell membrane Secreted. Extracellular space.
Post-translational modifications. N-glycosylated. N-glycosylated. N-glycosylated. O-glycosylated; contains chondroitin sulfate. O-glycosylated with core 1 or possibly core 8 glycans. O-glycosylated.
Disease relevance. 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. Aberrant expression of CSF1 or CSF1R may play a role in inflammatory diseases, such as rheumatoid arthritis, glomerulonephritis, atherosclerosis, and allograft rejection.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P09603-1 | 1 | yes |
| P09603-2 | 2 | |
| P09603-3 | 3 |
RefSeq proteins (4): NP_000748, NP_757349, NP_757350, NP_757351 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008001 | MCSF-1 | Family |
| IPR009079 | 4_helix_cytokine-like_core | Homologous_superfamily |
Pfam: PF05337
UniProt features (59 total): sequence conflict 9, helix 9, disulfide bond 6, sequence variant 6, glycosylation site 5, compositionally biased region 4, mutagenesis site 4, chain 3, region of interest 3, splice variant 2, topological domain 2, strand 2, signal peptide 1, modified residue 1, transmembrane region 1, turn 1
Structure
Experimental structures (PDB)
8 structures by resolution:
| PDB | Title | Method | Resolution (Å) |
|---|---|---|---|
| 5LXF | Crystal structure of the human Macrophage Colony Stimulating Factor M- CSF_C31S variant | X-RAY DIFFRACTION | 2 |
| 4FA8 | Multi-pronged modulation of cytokine signaling | X-RAY DIFFRACTION | 2.2 |
| 1HMC | THREE-DIMENSIONAL STRUCTURE OF DIMERIC HUMAN RECOMBINANT MACROPHAGE COLONY STIMULATING … | X-RAY DIFFRACTION | 2.5 |
| 3UF2 | Crystal structure of the human Colony-Stimulating Factor 1 (hCSF-1) cytokine | X-RAY DIFFRACTION | 2.75 |
| 4WRL | Structure of the human CSF-1:CSF-1R complex | X-RAY DIFFRACTION | 2.8 |
| 3UEZ | Crystal structure of the human Colony-Stimulating Factor 1 (hCSF-1) cytokine in complex … | X-RAY DIFFRACTION | 3.41 |
| 4ADF | CRYSTAL STRUCTURE OF THE HUMAN COLONY-STIMULATING FACTOR 1 (hCSF-1) CYTOKINE IN COMPLEX … | X-RAY DIFFRACTION | 4.4 |
| 4WRM | Structure of the human CSF-1:CSF-1R complex | X-RAY DIFFRACTION | 6.85 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P09603-F1 | 58.62 | 0.26 |
Human Protein Atlas
Protein class: Predicted membrane proteins, Predicted secreted proteins, Predicted intracellular proteins, Plasma proteins, RAS pathway related proteins, Cancer-related genes, Candidate cancer biomarkers, Candidate cardiovascular disease genes, Disease related genes
Protein evidence: Evidence at protein level
Subcellular location (HPA, imaging): plasma membrane; nuclear bodies
Antibody reliability (HPA): IF supported
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1)
| Type | Positions |
|---|---|
| Phosphothreonine | 266 |
Disulfide bonds (6)
| Type | Positions |
|---|---|
| Disulfide bond | 39–122, 80–171, 134–178 |
| Interchain | 63, 189, 191 |
Glycosylation sites (5)
| Type | Positions |
|---|---|
| N-linked (glcnac…) asparagine | 154, 172 |
| O-linked (xyl…) (chondroitin sulfate) serine | 309 |
| O-linked (galnac…) threonine | 363, 365 |
Mutagenesis-validated functional residues (4)
| Position | Phenotype |
|---|---|
| 252 | loss of 43 kda subunit. |
| 309 | loss of chondroitin sulfate attachment. |
| 444 | does not affect production of 150-200 kda subunit. |
| 489–554 | produces biologically active protein which is secreted. |
Function
Pathways and Gene Ontology
Reactome pathways
6 curated (TAS) of 14; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).
14 pathways:
| ID | Pathway | Evidence |
|---|---|---|
| R-HSA-9968734 | Differentiation of Circulating Monocytes | curated |
| R-HSA-6783783 | Interleukin-10 signaling | curated |
| R-HSA-449836 | Other interleukin signaling | curated |
| R-HSA-8957275 | Post-translational protein phosphorylation | curated |
| R-HSA-381426 | Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) | curated |
| R-HSA-9856649 | Transcriptional and post-translational regulation of MITF-M expression and activity | curated |
| R-HSA-1280215 | Cytokine Signaling in Immune system | — |
| R-HSA-1266738 | Developmental Biology | — |
| R-HSA-168256 | Immune System | — |
| R-HSA-9730414 | MITF-M-regulated melanocyte development | — |
| R-HSA-392499 | Metabolism of proteins | — |
| R-HSA-597592 | Post-translational protein modification | — |
| R-HSA-9680350 | Signaling by CSF1 (M-CSF) in myeloid cells | electronic |
| R-HSA-449147 | Signaling by Interleukins | — |
MSigDB gene sets: 582 (showing top):
GOBP_MYELOID_CELL_DIFFERENTIATION, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, BERENJENO_ROCK_SIGNALING_NOT_VIA_RHOA_DN, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_MAMMARY_GLAND_MORPHOGENESIS, GOBP_REGULATION_OF_OSTEOCLAST_DIFFERENTIATION, BENPORATH_ES_WITH_H3K27ME3, GOBP_GLAND_MORPHOGENESIS, GOBP_POSITIVE_REGULATION_OF_HEMOPOIESIS, GOBP_MYELOID_LEUKOCYTE_MIGRATION, GOBP_CELL_CHEMOTAXIS, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, MODULE_255
GO Biological Process (28): positive regulation of cell-matrix adhesion (GO:0001954), response to ischemia (GO:0002931), developmental process involved in reproduction (GO:0003006), inflammatory response (GO:0006954), cell surface receptor protein tyrosine kinase signaling pathway (GO:0007169), positive regulation of cell population proliferation (GO:0008284), positive regulation of gene expression (GO:0010628), regulation of macrophage derived foam cell differentiation (GO:0010743), positive regulation of macrophage derived foam cell differentiation (GO:0010744), positive regulation of macrophage chemotaxis (GO:0010759), macrophage differentiation (GO:0030225), osteoclast differentiation (GO:0030316), positive regulation of cell migration (GO:0030335), positive regulation of mononuclear cell proliferation (GO:0032946), macrophage colony-stimulating factor signaling pathway (GO:0038145), monocyte activation (GO:0042117), innate immune response (GO:0045087), positive regulation of macrophage differentiation (GO:0045651), positive regulation of monocyte differentiation (GO:0045657), positive regulation of osteoclast differentiation (GO:0045672), positive regulation of protein metabolic process (GO:0051247), microglial cell proliferation (GO:0061518), positive regulation of macrophage colony-stimulating factor signaling pathway (GO:1902228), positive regulation of microglial cell migration (GO:1904141), positive regulation of macrophage migration (GO:1905523), immune system process (GO:0002376), positive regulation of leukocyte migration (GO:0002687), signal transduction (GO:0007165)
GO Molecular Function (6): cytokine activity (GO:0005125), macrophage colony-stimulating factor receptor binding (GO:0005157), growth factor activity (GO:0008083), identical protein binding (GO:0042802), protein homodimerization activity (GO:0042803), protein binding (GO:0005515)
GO Cellular Component (6): extracellular region (GO:0005576), endoplasmic reticulum lumen (GO:0005788), plasma membrane (GO:0005886), membrane (GO:0016020), perinuclear region of cytoplasm (GO:0048471), CSF1-CSF1R complex (GO:1990682)
Reactome top-level categories
8 top-level categories:
| Category | Pathways |
|---|---|
| Metabolism of proteins | 2 |
| Signaling by Interleukins | 2 |
| Cytokine Signaling in Immune system | 2 |
| Post-translational protein modification | 1 |
| MITF-M-regulated melanocyte development | 1 |
| Developmental Cell Lineages | 1 |
| Immune System | 1 |
| Developmental Biology | 1 |
GO top-level categories
56 GO namespaces:
| Category | Terms |
|---|---|
| positive regulation of myeloid leukocyte differentiation | 3 |
| cellular anatomical structure | 3 |
| macrophage derived foam cell differentiation | 2 |
| myeloid leukocyte differentiation | 2 |
| receptor ligand activity | 2 |
| regulation of cell-matrix adhesion | 1 |
| cell-matrix adhesion | 1 |
| positive regulation of cell-substrate adhesion | 1 |
| response to stress | 1 |
| reproductive process | 1 |
| developmental process | 1 |
| defense response | 1 |
| enzyme-linked receptor protein signaling pathway | 1 |
| cell population proliferation | 1 |
| regulation of cell population proliferation | 1 |
| positive regulation of cellular process | 1 |
| gene expression | 1 |
| regulation of gene expression | 1 |
| positive regulation of macromolecule biosynthetic process | 1 |
| regulation of cell differentiation | 1 |
| regulation of macrophage derived foam cell differentiation | 1 |
| positive regulation of cell differentiation | 1 |
| positive regulation of leukocyte chemotaxis | 1 |
| regulation of macrophage chemotaxis | 1 |
| macrophage chemotaxis | 1 |
| regulation of granulocyte chemotaxis | 1 |
| positive regulation of macrophage migration | 1 |
| mononuclear cell differentiation | 1 |
| cell migration | 1 |
| regulation of cell migration | 1 |
| positive regulation of cell motility | 1 |
| mononuclear cell proliferation | 1 |
| regulation of mononuclear cell proliferation | 1 |
| positive regulation of leukocyte proliferation | 1 |
| cytokine-mediated signaling pathway | 1 |
| cellular response to macrophage colony-stimulating factor stimulus | 1 |
| myeloid leukocyte activation | 1 |
| immune response | 1 |
| defense response to symbiont | 1 |
| macrophage differentiation | 1 |
| regulation of macrophage differentiation | 1 |
| monocyte differentiation | 1 |
| regulation of monocyte differentiation | 1 |
| osteoclast differentiation | 1 |
| regulation of osteoclast differentiation | 1 |
| cytokine receptor binding | 1 |
| protein binding | 1 |
| identical protein binding | 1 |
| protein dimerization activity | 1 |
| binding | 1 |
| endoplasmic reticulum | 1 |
| intracellular organelle lumen | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cytoplasm | 1 |
| protein-containing complex | 1 |
Experimentally-supported GO annotations
GO terms backed by direct experimental evidence (ECO experimental codes) — 20 of 41 annotations. The rest are phylogenetic / computational / electronic (IEA).
20 experimentally-supported GO terms:
Protein interactions and networks
STRING
showing 15 of 3,416 interactions by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CSF1 | CSF1R | P07333 | 967 |
| CSF1 | CSF2 | P04141 | 944 |
| CSF1 | IL34 | Q6ZMJ4 | 907 |
| CSF1 | TNFSF11 | O14788 | 881 |
| CSF1 | IL3 | P08700 | 856 |
| CSF1 | CSF3 | P09919 | 852 |
| CSF1 | IL6 | P05231 | 794 |
| CSF1 | IL10 | P22301 | 790 |
| CSF1 | IL1B | P01584 | 787 |
| CSF1 | IFNG | P01579 | 785 |
| CSF1 | IL4 | P05112 | 785 |
| CSF1 | CCL2 | P13500 | 779 |
| CSF1 | TNF | P01375 | 779 |
| CSF1 | OSCAR | Q8IYS5 | 758 |
| CSF1 | ITGAM | P11215 | 751 |
IntAct
Human interaction partners of CSF1 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).
10 partners by confidence:
| Partner | Interaction type | MIscore | Records |
|---|---|---|---|
| CSF1R | direct interaction | 0.920 | 14 |
| SGTA | physical association | 0.720 | 6 |
| BARF1 | direct interaction | 0.620 | 3 |
| CYSRT1 | physical association | 0.560 | 3 |
| FHL3 | physical association | 0.560 | 3 |
| KRTAP1-1 | physical association | 0.560 | 3 |
| KRTAP10-8 | physical association | 0.560 | 3 |
| MTUS2 | physical association | 0.560 | 3 |
| NOTCH2NLA | physical association | 0.560 | 3 |
| AMIGO1 | physical association | 0.400 | 1 |
BioGRID (16 interactions; top human partners by supporting records): SGTA (Two-hybrid; 2 records), AMIGO1 (Affinity Capture-MS), CBL (Affinity Capture-Western), CSF1R (Reconstituted Complex), CYSRT1 (Two-hybrid), FHL3 (Two-hybrid), KIAA1429 (Affinity Capture-RNA), KRTAP1-1 (Two-hybrid), KRTAP10-8 (Two-hybrid), MTUS2 (Two-hybrid), NOTCH2NL (Two-hybrid), SLA2 (Reconstituted Complex), SOCS1 (Affinity Capture-MS), TRIM25 (Affinity Capture-RNA)
SIGNOR signaling
showing 5 of 6 signaling interactions:
| A | Effect | B | Mechanism |
|---|---|---|---|
| SMARCB1 | “up-regulates quantity by expression” | CSF1 | “transcriptional regulation” |
| CSF1 | up-regulates | CSF3R | binding |
| CSF1 | “up-regulates activity” | CSF1R | binding |
| CSF1 | up-regulates | M2_polarization | |
| CSF1 | up-regulates | CSF2RA | binding |
Protein complexes (CORUM) (1)
Experimentally-characterized complexes this protein is a subunit of (★ = the complex contains a known drug target).
1 complexes by size:
| Complex | Subunits | Members |
|---|---|---|
| ★ CSF1-CSF1R complex | 2 | CSF1, CSF1R |
Ligand–receptor pairs (CellPhoneDB) (1)
Curated ligand–receptor partners (cell-cell communication), distinct from the protein–protein interactions above.
1 ligand–receptor pairs:
| Partner | This gene’s role | Signaling class |
|---|---|---|
| CSF1R | ligand | Signaling by Colony-Stimulating factor |
Disease & clinical
Genetic variants
Variant evidence for CSF1: 103 ClinVar records (0 pathogenic / likely pathogenic); 25 GWAS associations.
ClinVar
103 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 80 |
| Likely benign | 7 |
| Benign | 3 |
SpliceAI
Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 40 predictions of 766):
| Position(s) | Effect | Δscore | Sites |
|---|---|---|---|
| 1:109917291–109917292 | acceptor_loss | 1.0000 | 6 |
| 1:109917464–109917465 | donor_loss | 1.0000 | 4 |
| 1:109921995 | donor_loss | 1.0000 | 2 |
| 1:109924191–109924192 | donor_loss | 1.0000 | 5 |
| 1:109911064 | donor_loss | 0.9900 | 2 |
| 1:109914382–109914383 | donor_loss | 0.9900 | 5 |
| 1:109917464 | donor_loss | 0.9900 | |
| 1:109924774–109924775 | acceptor_loss | 0.9900 | 6 |
| 1:109924829–109924830 | donor_loss | 0.9900 | 5 |
| 1:109928850–109928851 | acceptor_loss | 0.9900 | 4 |
AlphaMissense
449 missense substitutions predicted likely pathogenic (of 3,625 scored), across 135 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:
| Residue | Likely-pathogenic substitutions | Mean am_pathogenicity | Max am_pathogenicity |
|---|---|---|---|
| F99 | 8 | 0.937 | 0.995 |
| F167 | 8 | 0.924 | 0.989 |
| F153 | 8 | 0.910 | 0.982 |
| H47 | 8 | 0.814 | 0.912 |
| C80 | 7 | 0.984 | 0.992 |
| C171 | 7 | 0.984 | 0.994 |
| C134 | 7 | 0.979 | 0.990 |
| C122 | 7 | 0.969 | 0.980 |
| F69 | 7 | 0.965 | 0.992 |
| C178 | 7 | 0.961 | 0.986 |
| C63 | 7 | 0.958 | 0.975 |
| C39 | 7 | 0.946 | 0.966 |
| C189 | 7 | 0.926 | 0.956 |
| C191 | 7 | 0.916 | 0.950 |
| M59 | 7 | 0.908 | 0.958 |
| F67 | 7 | 0.908 | 0.988 |
| F138 | 7 | 0.871 | 0.982 |
| F175 | 7 | 0.869 | 0.978 |
| D56 | 7 | 0.865 | 0.906 |
| F123 | 7 | 0.847 | 0.964 |
HPA cancer prognostics
RNA cancer specificity: Low cancer specificity
Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.
1 prognostic cancer types:
| Cancer | Prognostic | p-value |
|---|---|---|
| Liver Hepatocellular Carcinoma (TCGA) | unfavorable | 2.14e-05 |
Disease associations
OMIM: gene MIM:120420 | disease phenotypes:
GWAS associations
25 associations:
| Study | Trait | p-value |
|---|---|---|
| GCST90011899_28 | Aspartate aminotransferase levels | 2e-64 |
| GCST006014_1 | Creatine kinase levels | 1e-40 |
| GCST001086_6 | Paget’s disease | 7e-35 |
| GCST90002393_576 | Monocyte count | 1e-33 |
| GCST011351_1 | Aspartate aminotransferase levels | 3e-26 |
| GCST005999_1 | Aspartate aminotransferase levels | 1e-25 |
| GCST000672_4 | Paget’s disease | 5e-24 |
| GCST006013_6 | Lactate dehydrogenase levels | 3e-23 |
| GCST004625_137 | Monocyte count | 9e-17 |
| GCST90002402_506 | Platelet count | 5e-16 |
| GCST90002400_425 | Plateletcrit | 1e-15 |
| GCST90002388_453 | Lymphocyte count | 3e-14 |
| GCST90002394_442 | Monocyte percentage of white cells | 6e-14 |
| GCST90002407_16 | White blood cell count | 1e-13 |
| GCST005989_1 | Serum total protein levels | 5e-13 |
| GCST009731_66 | Blood protein levels in cardiovascular risk | 1e-12 |
| GCST008839_337 | Height | 1e-10 |
| GCST005348_120 | Total body bone mineral density | 2e-10 |
| GCST004610_105 | White blood cell count | 3e-9 |
| GCST011348_25 | High density lipoprotein cholesterol levels | 6e-9 |
| GCST010175_1 | Adult onset Still’s disease | 1e-8 |
| GCST010726_4 | Periventricular white matter hyperintensities | 1e-7 |
| GCST001762_466 | Obesity-related traits | 2e-7 |
| GCST011681_1 | Cryptococcosis in HIV infection | 3e-7 |
| GCST002090_3 | Sensory disturbances after bilateral sagittal split ramus osteotomy | 3e-6 |
EFO canonical traits (from GWAS)
12 canonical traits:
| EFO ID | Trait name |
|---|---|
| EFO:0004471 | insulin sensitivity measurement |
| EFO:0005324 | post-operative sensory disturbance |
| EFO:0005091 | monocyte count |
| EFO:0004736 | aspartate aminotransferase measurement |
| EFO:0004808 | L lactate dehydrogenase measurement |
| EFO:0004534 | creatine kinase measurement |
| EFO:0005665 | white matter hyperintensity measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0004587 | lymphocyte count |
| EFO:0007989 | monocyte percentage of leukocytes |
| EFO:0007985 | platelet crit |
| EFO:0004309 | platelet count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL3989382 (SINGLE PROTEIN)
Drugs by curated mechanism of action (ChEMBL)
Drugs whose curated ChEMBL mechanism of action targets the CSF1 protein itself — single-protein targets only (drugs acting on a protein family or complex that merely includes it are excluded). Includes antibodies and oligonucleotides that bioactivity screening does not capture.
2 curated-mechanism drugs:
| Drug | Modality | Max phase |
|---|---|---|
| MCS-110 | Unknown | 2 |
| PD-360324 | Unknown | 2 |
PharmGKB: 1 entry (CPIC guideline: no)
CTD chemical–gene interactions
118 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Lipopolysaccharides | increases reaction, increases expression, decreases reaction, affects cotreatment, increases chemical synthesis (+3 more) | 4 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 3 |
| Cyclosporine | affects cotreatment, increases expression, decreases expression | 3 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 3 |
| Particulate Matter | decreases expression, increases abundance, affects expression | 3 |
| (+)-JQ1 compound | decreases expression | 2 |
| Zoledronic Acid | decreases expression, increases expression | 2 |
| Fulvestrant | increases methylation, increases expression, affects cotreatment | 2 |
| Acetaminophen | increases expression, affects cotreatment | 2 |
| Air Pollutants | increases abundance, increases expression, decreases expression | 2 |
| Arsenic | affects methylation, affects cotreatment, increases abundance, increases expression | 2 |
| Asbestos | increases expression | 2 |
| Benzene | increases chemical synthesis, increases reaction, decreases expression, increases response to substance, affects cotreatment | 2 |
| Benzo(a)pyrene | increases expression, affects methylation | 2 |
| Calcitriol | decreases expression, increases expression, affects cotreatment | 2 |
| Chenodeoxycholic Acid | affects cotreatment, increases expression | 2 |
| Deoxycholic Acid | affects cotreatment, increases expression | 2 |
| Glycochenodeoxycholic Acid | affects cotreatment, increases expression | 2 |
| Glycocholic Acid | affects cotreatment, increases expression | 2 |
| Glycodeoxycholic Acid | affects cotreatment, increases expression | 2 |
| Nickel | increases expression | 2 |
| Ozone | increases abundance, increases expression, affects cotreatment | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| Triclosan | increases expression | 2 |
| Gold Compounds | increases expression, affects cotreatment | 2 |
| aristolochic acid I | increases expression | 1 |
| pexidartinib | decreases secretion | 1 |
| bisphenol F | decreases methylation | 1 |
| 2-anisidine | increases expression | 1 |
Cellosaurus cell lines
15 cell lines: 12 cancer cell line, 3 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_6358 | 5/9 m a3-18 | Transformed cell line | Female |
| CVCL_A9YZ | NCC-TGCT1-C1 | Cancer cell line | Female |
| CVCL_B8E4 | Abcam HCT 116 CSF1 KO | Cancer cell line | Male |
| CVCL_B9GC | Abcam A-549 CSF1 KO | Cancer cell line | Male |
| CVCL_D1S0 | Abcam U-87MG CSF1 KO | Cancer cell line | Male |
| CVCL_D2EL | Abcam MCF-7 CSF1 KO | Cancer cell line | Female |
| CVCL_D7MW | Ubigene A-549 CSF1 KO | Cancer cell line | Male |
| CVCL_D8JD | Ubigene HCT 116 CSF1 KO | Cancer cell line | Male |
| CVCL_D9CE | Ubigene HEK293 CSF1 KO | Transformed cell line | Female |
| CVCL_E0B2 | Ubigene HeLa CSF1 KO | Cancer cell line | Female |
Clinical trials (associated diseases)
Via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): adult-onset Still disease, bone Paget disease, cryptococcosis