• Gene id: 1435

Gene Summary

• Gene Symbol: CSF1   Gene   UCSC   Ensembl
• Aliases: CSF-1, MCSF
• Gene name: colony stimulating factor 1
• Alternate names: macrophage colony-stimulating factor 1, colony stimulating factor 1 (macrophage), lanimostim, macrophage colony stimulating factor 1,
• Gene location: 1p13.3 (109910505: 109930993)     Exons: 10     NC_000001.11
• Gene summary(Entrez): 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 proteolyti
• OMIM: 120420

Protein Summary

• Protein general information: P09603  
  • Name: Macrophage colony stimulating factor 1 (CSF 1) (M CSF) (MCSF) (Lanimostim) [Cleaved into: Processed macrophage colony stimulating factor 1]
  • Length: 554  
  • Mass: 60,179
• Sequence:

  MTAPGAAGRCPPTTWLGSLLLLVCLLASRSITEEVSEYCSHMIGSGHLQSLQRLIDSQMETSCQITFEFVDQEQL
  KDPVCYLKKAFLLVQDIMEDTMRFRDNTPNAIAIVQLQELSLRLKSCFTKDYEEHDKACVRTFYETPLQLLEKVK
  NVFNETKNLLDKDWNIFSKNCNNSFAECSSQDVVTKPDCNCLYPKAIPSSDPASVSPHQPLAPSMAPVAGLTWED
  SEGTEGSSLLPGEQPLHTVDPGSAKQRPPRSTCQSFEPPETPVVKDSTIGGSPQPRPSVGAFNPGMEDILDSAMG
  TNWVPEEASGEASEIPVPQGTELSPSRPGGGSMQTEPARPSNFLSASSPLPASAKGQQPADVTGTALPRVGPVRP
  TGQDWNHTPQKTDHPSALLRDPPEPGSPRISSLRPQGLSNPSTLSAQPQLSRSHSSGSVLPLGELEGRRSTRDRR
  SPAEPEGGPASEGAARPLPRFNSVPLTDTGHERQSEGSFSPQLQESVFHLLVPSVILVLLAVGGLLFYRWRRRSH
  QEPQRADSPLEQPEGSPLTQDDRQVELPV

• Structural information:
  • Interpro: IPR009079  IPR008001  
  • PDB: 1HMC 3UEZ 3UF2 4ADF 4FA8 4WRL 4WRM 5LXF
  • PDBsum: 1HMC 3UEZ 3UF2 4ADF 4FA8 4WRL 4WRM 5LXF
  • DIP: 41860
  • STRING: ENSP00000327513
• Other Databases: GeneCards:  CSF1  Malacards:  CSF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001503	ossification	IEA	biological process
GO:0001954	positive regulation of cell-matrix adhesion	ISS	biological process
GO:0002158	osteoclast proliferation	IEA	biological process
GO:0003006	developmental process involved in reproduction	ISS	biological process
GO:0005125	cytokine activity	IDA	molecular function
GO:0005125	cytokine activity	IDA	molecular function
GO:0005157	macrophage colony-stimulating factor receptor binding	ISS	molecular function
GO:0005157	macrophage colony-stimulating factor receptor binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006954	inflammatory response	IEA	biological process
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	IDA	biological process
GO:0008083	growth factor activity	NAS	molecular function
GO:0008083	growth factor activity	IDA	molecular function
GO:0008283	cell proliferation	NAS	biological process
GO:0008284	positive regulation of cell proliferation	IDA	biological process
GO:0008284	positive regulation of cell proliferation	TAS	biological process
GO:0010628	positive regulation of gene expression	IDA	biological process
GO:0010628	positive regulation of gene expression	IDA	biological process
GO:0010743	regulation of macrophage derived foam cell differentiation	NAS	biological process
GO:0010744	positive regulation of macrophage derived foam cell differentiation	IDA	biological process
GO:0010759	positive regulation of macrophage chemotaxis	IDA	biological process
GO:0016020	membrane	NAS	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030097	hemopoiesis	NAS	biological process
GO:0030154	cell differentiation	NAS	biological process
GO:0030225	macrophage differentiation	TAS	biological process
GO:0030278	regulation of ossification	IEA	biological process
GO:0030316	osteoclast differentiation	IDA	biological process
GO:0030335	positive regulation of cell migration	ISS	biological process
GO:0032270	positive regulation of cellular protein metabolic process	IDA	biological process
GO:0032946	positive regulation of mononuclear cell proliferation	IDA	biological process
GO:0038145	macrophage colony-stimulating factor signaling pathway	IEA	biological process
GO:0040018	positive regulation of multicellular organism growth	IEA	biological process
GO:0042117	monocyte activation	NAS	biological process
GO:0042476	odontogenesis	IEA	biological process
GO:0042488	positive regulation of odontogenesis of dentin-containing tooth	IEA	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0045087	innate immune response	IEA	biological process
GO:0045651	positive regulation of macrophage differentiation	IDA	biological process
GO:0045657	positive regulation of monocyte differentiation	ISS	biological process
GO:0045672	positive regulation of osteoclast differentiation	IDA	biological process
GO:0045860	positive regulation of protein kinase activity	ISS	biological process
GO:0046579	positive regulation of Ras protein signal transduction	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0048873	homeostasis of number of cells within a tissue	IEA	biological process
GO:0060444	branching involved in mammary gland duct morphogenesis	IEA	biological process
GO:0060611	mammary gland fat development	IEA	biological process
GO:0060763	mammary duct terminal end bud growth	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:1902228	positive regulation of macrophage colony-stimulating factor signaling pathway	IDA	biological process
GO:1904141	positive regulation of microglial cell migration	IDA	biological process
GO:1990682	CSF1-CSF1R complex	ISS	cellular component
GO:0001503	ossification	IEA	biological process
GO:0001954	positive regulation of cell-matrix adhesion	IEA	biological process
GO:0001954	positive regulation of cell-matrix adhesion	ISS	biological process
GO:0002158	osteoclast proliferation	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0003006	developmental process involved in reproduction	IEA	biological process
GO:0003006	developmental process involved in reproduction	ISS	biological process
GO:0005125	cytokine activity	IEA	molecular function
GO:0005125	cytokine activity	IEA	molecular function
GO:0005125	cytokine activity	IDA	molecular function
GO:0005125	cytokine activity	IDA	molecular function
GO:0005157	macrophage colony-stimulating factor receptor binding	IEA	molecular function
GO:0005157	macrophage colony-stimulating factor receptor binding	ISS	molecular function
GO:0005157	macrophage colony-stimulating factor receptor binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006954	inflammatory response	IEA	biological process
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	IDA	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0008083	growth factor activity	IEA	molecular function
GO:0008083	growth factor activity	NAS	molecular function
GO:0008083	growth factor activity	IDA	molecular function
GO:0008283	cell proliferation	IEA	biological process
GO:0008283	cell proliferation	NAS	biological process
GO:0008284	positive regulation of cell proliferation	IDA	biological process
GO:0008284	positive regulation of cell proliferation	TAS	biological process
GO:0010628	positive regulation of gene expression	IDA	biological process
GO:0010628	positive regulation of gene expression	IDA	biological process
GO:0010743	regulation of macrophage derived foam cell differentiation	NAS	biological process
GO:0010744	positive regulation of macrophage derived foam cell differentiation	IDA	biological process
GO:0010759	positive regulation of macrophage chemotaxis	IDA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	NAS	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030097	hemopoiesis	NAS	biological process
GO:0030154	cell differentiation	NAS	biological process
GO:0030225	macrophage differentiation	IEA	biological process
GO:0030225	macrophage differentiation	TAS	biological process
GO:0030278	regulation of ossification	IEA	biological process
GO:0030316	osteoclast differentiation	IEA	biological process
GO:0030316	osteoclast differentiation	IDA	biological process
GO:0030335	positive regulation of cell migration	IEA	biological process
GO:0030335	positive regulation of cell migration	ISS	biological process
GO:0032270	positive regulation of cellular protein metabolic process	IDA	biological process
GO:0032946	positive regulation of mononuclear cell proliferation	IDA	biological process
GO:0038145	macrophage colony-stimulating factor signaling pathway	IEA	biological process
GO:0040018	positive regulation of multicellular organism growth	IEA	biological process
GO:0042117	monocyte activation	NAS	biological process
GO:0042476	odontogenesis	IEA	biological process
GO:0042488	positive regulation of odontogenesis of dentin-containing tooth	IEA	biological process
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0045087	innate immune response	IEA	biological process
GO:0045651	positive regulation of macrophage differentiation	IEA	biological process
GO:0045651	positive regulation of macrophage differentiation	IDA	biological process
GO:0045657	positive regulation of monocyte differentiation	IEA	biological process
GO:0045657	positive regulation of monocyte differentiation	ISS	biological process
GO:0045672	positive regulation of osteoclast differentiation	IEA	biological process
GO:0045672	positive regulation of osteoclast differentiation	IDA	biological process
GO:0045860	positive regulation of protein kinase activity	IEA	biological process
GO:0045860	positive regulation of protein kinase activity	ISS	biological process
GO:0046579	positive regulation of Ras protein signal transduction	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0048873	homeostasis of number of cells within a tissue	IEA	biological process
GO:0060444	branching involved in mammary gland duct morphogenesis	IEA	biological process
GO:0060611	mammary gland fat development	IEA	biological process
GO:0060763	mammary duct terminal end bud growth	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:1902228	positive regulation of macrophage colony-stimulating factor signaling pathway	IDA	biological process
GO:1904141	positive regulation of microglial cell migration	IDA	biological process
GO:1990682	CSF1-CSF1R complex	IEA	cellular component
GO:1990682	CSF1-CSF1R complex	ISS	cellular component
GO:0001954	positive regulation of cell-matrix adhesion	ISS	biological process
GO:0003006	developmental process involved in reproduction	ISS	biological process
GO:0005125	cytokine activity	IDA	molecular function
GO:0005125	cytokine activity	IDA	molecular function
GO:0005157	macrophage colony-stimulating factor receptor binding	ISS	molecular function
GO:0005157	macrophage colony-stimulating factor receptor binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	IDA	biological process
GO:0008083	growth factor activity	NAS	molecular function
GO:0008083	growth factor activity	IDA	molecular function
GO:0008283	cell proliferation	NAS	biological process
GO:0008284	positive regulation of cell proliferation	IDA	biological process
GO:0008284	positive regulation of cell proliferation	TAS	biological process
GO:0010628	positive regulation of gene expression	IDA	biological process
GO:0010628	positive regulation of gene expression	IDA	biological process
GO:0010743	regulation of macrophage derived foam cell differentiation	NAS	biological process
GO:0010744	positive regulation of macrophage derived foam cell differentiation	IDA	biological process
GO:0010759	positive regulation of macrophage chemotaxis	IDA	biological process
GO:0016020	membrane	NAS	cellular component
GO:0030097	hemopoiesis	NAS	biological process
GO:0030154	cell differentiation	NAS	biological process
GO:0030225	macrophage differentiation	TAS	biological process
GO:0030316	osteoclast differentiation	IDA	biological process
GO:0030335	positive regulation of cell migration	ISS	biological process
GO:0032270	positive regulation of cellular protein metabolic process	IDA	biological process
GO:0032946	positive regulation of mononuclear cell proliferation	IDA	biological process
GO:0042117	monocyte activation	NAS	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0045651	positive regulation of macrophage differentiation	IDA	biological process
GO:0045657	positive regulation of monocyte differentiation	ISS	biological process
GO:0045672	positive regulation of osteoclast differentiation	IDA	biological process
GO:0045860	positive regulation of protein kinase activity	ISS	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:1902228	positive regulation of macrophage colony-stimulating factor signaling pathway	IDA	biological process
GO:1904141	positive regulation of microglial cell migration	IDA	biological process
GO:1990682	CSF1-CSF1R complex	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04668	TNF signaling pathway
hsa04151	PI3K-Akt signaling pathway
hsa04060	Cytokine-cytokine receptor interaction
hsa04061	Viral protein interaction with cytokine and cytokine receptor
hsa04640	Hematopoietic cell lineage
hsa04380	Osteoclast differentiation
hsa05323	Rheumatoid arthritis

Diseases

Associated diseases	References
Cancer	GAD: 17355643
Cancer (leukemia)	GAD: 19375163
Cancer (ovarian)	GAD: 20628624
Atherosclerosis	GAD: 20485444
Periodontitis	GAD: 16844084
Bone diseases	GAD: 19453261
Alzheimer's disease	GAD: 17192722
Chronic renal failure	GAD: 21085059
Chorioamnionitis	GAD: 20452482
Follicle development	INFBASE: 18996518
Endometriosis	INFBASE: 8073433
Infertility	INFBASE: 2070087
Endometriosis	INFBASE: 22365076
Peritoneal adhesions	INFBASE: 2070087
Polycystic ovary syndrome (PCOS)	INFBASE: 16997933
Ovulatory disorders	INFBASE: 18996518
Male factor infertility	MIK: 8554432
Female infertility	INFBASE: 9410394
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Associated with spermatogenesis and epigenetic regulation	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 8554432
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
8554432	Male infertility				Male infertility	CSF-1
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Associated with spermatogenesis and epigenetic regulation			18	Male infertility	GSE26881
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq