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Gene id

1436

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

CSF1R Gene UCSC Ensembl

Aliases

C-FMS, CD115, CSF-1R, CSFR, FIM2, FMS, HDLS, M-CSF-R

Gene name

colony stimulating factor 1 receptor

Alternate names

macrophage colony-stimulating factor 1 receptor, CD115 antigen, CSF-1 receptor, FMS proto-oncogene, McDonough feline sarcoma viral (v-fms) oncogene homolog, macrophage colony stimulating factor I receptor, proto-oncogene c-Fms,

Gene location

5q32 (150113371: 150053290) Exons: 22 NC_000005.10

Gene summary(Entrez)

The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. Alternative splicing results in multiple transcript variants. Expression of a splice variant from an LTR promoter has been found in Hodgkin lymphoma (HL), HL cell lines and anaplastic large cell lymphoma. [provided by RefSeq, Mar 2017]

OMIM

164770

Protein Summary

Protein general information

P07333

Name: Macrophage colony stimulating factor 1 receptor (CSF 1 receptor) (CSF 1 R) (CSF 1R) (M CSF R) (EC 2.7.10.1) (Proto oncogene c Fms) (CD antigen CD115)

Length: 972 Mass: 107,984

Tissue specificity: Expressed in bone marrow and in differentiated blood mononuclear cells.

Sequence

MGPGVLLLLLVATAWHGQGIPVIEPSVPELVVKPGATVTLRCVGNGSVEWDGPPSPHWTLYSDGSSSILSTNNAT
FQNTGTYRCTEPGDPLGGSAAIHLYVKDPARPWNVLAQEVVVFEDQDALLPCLLTDPVLEAGVSLVRVRGRPLMR
HTNYSFSPWHGFTIHRAKFIQSQDYQCSALMGGRKVMSISIRLKVQKVIPGPPALTLVPAELVRIRGEAAQIVCS
ASSVDVNFDVFLQHNNTKLAIPQQSDFHNNRYQKVLTLNLDQVDFQHAGNYSCVASNVQGKHSTSMFFRVVESAY
LNLSSEQNLIQEVTVGEGLNLKVMVEAYPGLQGFNWTYLGPFSDHQPEPKLANATTKDTYRHTFTLSLPRLKPSE
AGRYSFLARNPGGWRALTFELTLRYPPEVSVIWTFINGSGTLLCAASGYPQPNVTWLQCSGHTDRCDEAQVLQVW
DDPYPEVLSQEPFHKVTVQSLLTVETLEHNQTYECRAHNSVGSGSWAFIPISAGAHTHPPDEFLFTPVVVACMSI
MALLLLLLLLLLYKYKQKPKYQVRWKIIESYEGNSYTFIDPTQLPYNEKWEFPRNNLQFGKTLGAGAFGKVVEAT
AFGLGKEDAVLKVAVKMLKSTAHADEKEALMSELKIMSHLGQHENIVNLLGACTHGGPVLVITEYCCYGDLLNFL
RRKAEAMLGPSLSPGQDPEGGVDYKNIHLEKKYVRRDSGFSSQGVDTYVEMRPVSTSSNDSFSEQDLDKEDGRPL
ELRDLLHFSSQVAQGMAFLASKNCIHRDVAARNVLLTNGHVAKIGDFGLARDIMNDSNYIVKGNARLPVKWMAPE
SIFDCVYTVQSDVWSYGILLWEIFSLGLNPYPGILVNSKFYKLVKDGYQMAQPAFAPKNIYSIMQACWALEPTHR
PTFQQICSFLQEQAQEDRRERDYTNLPSSSRSGGSGSSSSELEEESSSEHLTCCEQGDIAQPLLQPNNYQFC

Structural information

Protein Domains	Ig-like (21-104) Ig-like (107-197) Ig-like (203-290) Ig-like (299-399) Ig-like (402-502) Protein (582-910)
Interpro:	IPR030658 IPR007110 IPR013783 IPR003599 IPR003598 IPR013151 IPR011009 IPR000719 IPR017441 IPR001245 IPR008266 IPR020635 IPR016243 IPR001824
Prosite:	PS50835 PS00107 PS50011 PS00109 PS00240
Pfam:	PF00047 PF07714
PDB:	2I0V 2I0Y 2I1M 2OGV 3BEA 3DPK 3KRJ 3KRL 3LCD 3LCO 4DKD 4HW7 4LIQ 4R7H 4R7I 4WRL 4WRM
PDBsum:	2I0V 2I0Y 2I1M 2OGV 3BEA 3DPK 3KRJ 3KRL 3LCD 3LCO 4DKD 4HW7 4LIQ 4R7H 4R7I 4WRL 4WRM
DIP:	59421
MINT:	8019993
STRING:	ENSP00000286301;

Other Databases

GeneCards: CSF1R; Malacards: CSF1R

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001934	positive regulation of pr otein phosphorylation	IMP	biological_process
GO:0005011	macrophage colony-stimula ting factor receptor acti vity	ISS	molecular_function
GO:0005011	macrophage colony-stimula ting factor receptor acti vity	IMP	molecular_function
GO:0005011	macrophage colony-stimula ting factor receptor acti vity	IMP	molecular_function
GO:0005524	ATP binding	IEA	molecular_function
GO:0005622	intracellular	IEA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0006954	inflammatory response	TAS	biological_process
GO:0007165	signal transduction	TAS	biological_process
GO:0007169	transmembrane receptor pr otein tyrosine kinase sig naling pathway	ISS	biological_process
GO:0007275	multicellular organism de velopment	TAS	biological_process
GO:0007411	axon guidance	IEA	biological_process
GO:0007519	skeletal muscle tissue de velopment	IEA	biological_process
GO:0008283	cell proliferation	IMP	biological_process
GO:0008284	positive regulation of ce ll proliferation	IMP	biological_process
GO:0008284	positive regulation of ce ll proliferation	IMP	biological_process
GO:0008285	negative regulation of ce ll proliferation	IEA	biological_process
GO:0008360	regulation of cell shape	IMP	biological_process
GO:0009986	cell surface	ISS	cellular_component
GO:0018108	peptidyl-tyrosine phospho rylation	IDA	biological_process
GO:0019221	cytokine-mediated signali ng pathway	IMP	biological_process
GO:0019903	protein phosphatase bindi ng	IEA	molecular_function
GO:0019955	cytokine binding	ISS	molecular_function
GO:0019955	cytokine binding	IDA	molecular_function
GO:0021772	olfactory bulb developmen t	IEA	biological_process
GO:0021879	forebrain neuron differen tiation	IEA	biological_process
GO:0030097	hemopoiesis	IMP	biological_process
GO:0030224	monocyte differentiation	TAS	biological_process
GO:0030225	macrophage differentiatio n	TAS	biological_process
GO:0030316	osteoclast differentiatio n	ISS	biological_process
GO:0030335	positive regulation of ce ll migration	ISS	biological_process
GO:0031529	ruffle organization	ISS	biological_process
GO:0036006	cellular response to macr ophage colony-stimulating factor stimulus	IMP	biological_process
GO:0036006	cellular response to macr ophage colony-stimulating factor stimulus	IMP	biological_process
GO:0038145	macrophage colony-stimula ting factor signaling pat hway	ISS	biological_process
GO:0042517	positive regulation of ty rosine phosphorylation of Stat3 protein	ISS	biological_process
GO:0042803	protein homodimerization activity	ISS	molecular_function
GO:0043066	negative regulation of ap optotic process	IEA	biological_process
GO:0045087	innate immune response	IEA	biological_process
GO:0045124	regulation of bone resorp tion	ISS	biological_process
GO:0045217	cell-cell junction mainte nance	IMP	biological_process
GO:0045672	positive regulation of os teoclast differentiation	IEA	biological_process
GO:0046488	phosphatidylinositol meta bolic process	ISS	biological_process
GO:0046777	protein autophosphorylati on	IDA	biological_process
GO:0048015	phosphatidylinositol-medi ated signaling	ISS	biological_process
GO:0060603	mammary gland duct morpho genesis	TAS	biological_process
GO:0061098	positive regulation of pr otein tyrosine kinase act ivity	IMP	biological_process
GO:0070374	positive regulation of ER K1 and ERK2 cascade	ISS	biological_process
GO:0071345	cellular response to cyto kine stimulus	ISS	biological_process
GO:0071902	positive regulation of pr otein serine/threonine ki nase activity	ISS	biological_process
GO:0090197	positive regulation of ch emokine secretion	IMP	biological_process
GO:1990682	CSF1-CSF1R complex	ISS	cellular_component
GO:2000147	positive regulation of ce ll motility	IMP	biological_process
GO:2000249	regulation of actin cytos keleton reorganization	ISS	biological_process
GO:0000166	nucleotide binding	IEA	molecular_function
GO:0001934	positive regulation of pr otein phosphorylation	IMP	biological_process
GO:0002376	immune system process	IEA	biological_process
GO:0004672	protein kinase activity	IEA	molecular_function
GO:0004713	protein tyrosine kinase a ctivity	IEA	molecular_function
GO:0004713	protein tyrosine kinase a ctivity	IEA	molecular_function
GO:0004714	transmembrane receptor pr otein tyrosine kinase act ivity	IEA	molecular_function
GO:0004714	transmembrane receptor pr otein tyrosine kinase act ivity	IEA	molecular_function
GO:0005011	macrophage colony-stimula ting factor receptor acti vity	IEA	molecular_function
GO:0005011	macrophage colony-stimula ting factor receptor acti vity	ISS	molecular_function
GO:0005011	macrophage colony-stimula ting factor receptor acti vity	IMP	molecular_function
GO:0005011	macrophage colony-stimula ting factor receptor acti vity	IMP	molecular_function
GO:0005011	macrophage colony-stimula ting factor receptor acti vity	TAS	molecular_function
GO:0005524	ATP binding	IEA	molecular_function
GO:0005524	ATP binding	IEA	molecular_function
GO:0005622	intracellular	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0006468	protein phosphorylation	IEA	biological_process
GO:0006954	inflammatory response	IEA	biological_process
GO:0006954	inflammatory response	TAS	biological_process
GO:0007165	signal transduction	TAS	biological_process
GO:0007169	transmembrane receptor pr otein tyrosine kinase sig naling pathway	IEA	biological_process
GO:0007169	transmembrane receptor pr otein tyrosine kinase sig naling pathway	IEA	biological_process
GO:0007169	transmembrane receptor pr otein tyrosine kinase sig naling pathway	ISS	biological_process
GO:0007275	multicellular organism de velopment	TAS	biological_process
GO:0007411	axon guidance	IEA	biological_process
GO:0007519	skeletal muscle tissue de velopment	IEA	biological_process
GO:0008283	cell proliferation	IEA	biological_process
GO:0008283	cell proliferation	IMP	biological_process
GO:0008283	cell proliferation	TAS	biological_process
GO:0008284	positive regulation of ce ll proliferation	IEA	biological_process
GO:0008284	positive regulation of ce ll proliferation	IMP	biological_process
GO:0008284	positive regulation of ce ll proliferation	IMP	biological_process
GO:0008285	negative regulation of ce ll proliferation	IEA	biological_process
GO:0008360	regulation of cell shape	IEA	biological_process
GO:0008360	regulation of cell shape	IMP	biological_process
GO:0009986	cell surface	IEA	cellular_component
GO:0009986	cell surface	ISS	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016301	kinase activity	IEA	molecular_function
GO:0016310	phosphorylation	IEA	biological_process
GO:0016740	transferase activity	IEA	molecular_function
GO:0018108	peptidyl-tyrosine phospho rylation	IEA	biological_process
GO:0018108	peptidyl-tyrosine phospho rylation	IDA	biological_process
GO:0019221	cytokine-mediated signali ng pathway	IEA	biological_process
GO:0019221	cytokine-mediated signali ng pathway	IMP	biological_process
GO:0019903	protein phosphatase bindi ng	IEA	molecular_function
GO:0019955	cytokine binding	IEA	molecular_function
GO:0019955	cytokine binding	IEA	molecular_function
GO:0019955	cytokine binding	ISS	molecular_function
GO:0019955	cytokine binding	IDA	molecular_function
GO:0021772	olfactory bulb developmen t	IEA	biological_process
GO:0021879	forebrain neuron differen tiation	IEA	biological_process
GO:0030097	hemopoiesis	IMP	biological_process
GO:0030224	monocyte differentiation	TAS	biological_process
GO:0030225	macrophage differentiatio n	TAS	biological_process
GO:0030316	osteoclast differentiatio n	IEA	biological_process
GO:0030316	osteoclast differentiatio n	ISS	biological_process
GO:0030335	positive regulation of ce ll migration	IEA	biological_process
GO:0030335	positive regulation of ce ll migration	ISS	biological_process
GO:0031529	ruffle organization	IEA	biological_process
GO:0031529	ruffle organization	ISS	biological_process
GO:0036006	cellular response to macr ophage colony-stimulating factor stimulus	IEA	biological_process
GO:0036006	cellular response to macr ophage colony-stimulating factor stimulus	IMP	biological_process
GO:0036006	cellular response to macr ophage colony-stimulating factor stimulus	IMP	biological_process
GO:0038145	macrophage colony-stimula ting factor signaling pat hway	IEA	biological_process
GO:0038145	macrophage colony-stimula ting factor signaling pat hway	ISS	biological_process
GO:0042517	positive regulation of ty rosine phosphorylation of Stat3 protein	IEA	biological_process
GO:0042517	positive regulation of ty rosine phosphorylation of Stat3 protein	ISS	biological_process
GO:0042803	protein homodimerization activity	IEA	molecular_function
GO:0042803	protein homodimerization activity	ISS	molecular_function
GO:0043066	negative regulation of ap optotic process	IEA	biological_process
GO:0045087	innate immune response	IEA	biological_process
GO:0045124	regulation of bone resorp tion	ISS	biological_process
GO:0045217	cell-cell junction mainte nance	IMP	biological_process
GO:0045672	positive regulation of os teoclast differentiation	IEA	biological_process
GO:0046488	phosphatidylinositol meta bolic process	IEA	biological_process
GO:0046488	phosphatidylinositol meta bolic process	ISS	biological_process
GO:0046777	protein autophosphorylati on	IEA	biological_process
GO:0046777	protein autophosphorylati on	IDA	biological_process
GO:0048015	phosphatidylinositol-medi ated signaling	IEA	biological_process
GO:0048015	phosphatidylinositol-medi ated signaling	ISS	biological_process
GO:0060603	mammary gland duct morpho genesis	TAS	biological_process
GO:0061098	positive regulation of pr otein tyrosine kinase act ivity	IMP	biological_process
GO:0070374	positive regulation of ER K1 and ERK2 cascade	IEA	biological_process
GO:0070374	positive regulation of ER K1 and ERK2 cascade	ISS	biological_process
GO:0071345	cellular response to cyto kine stimulus	IEA	biological_process
GO:0071345	cellular response to cyto kine stimulus	ISS	biological_process
GO:0071902	positive regulation of pr otein serine/threonine ki nase activity	IEA	biological_process
GO:0071902	positive regulation of pr otein serine/threonine ki nase activity	ISS	biological_process
GO:0090197	positive regulation of ch emokine secretion	IMP	biological_process
GO:1990682	CSF1-CSF1R complex	IEA	cellular_component
GO:1990682	CSF1-CSF1R complex	ISS	cellular_component
GO:2000147	positive regulation of ce ll motility	IMP	biological_process
GO:2000249	regulation of actin cytos keleton reorganization	IEA	biological_process
GO:2000249	regulation of actin cytos keleton reorganization	ISS	biological_process
GO:0001934	positive regulation of pr otein phosphorylation	IMP	biological_process
GO:0005011	macrophage colony-stimula ting factor receptor acti vity	ISS	molecular_function
GO:0005011	macrophage colony-stimula ting factor receptor acti vity	IMP	molecular_function
GO:0005011	macrophage colony-stimula ting factor receptor acti vity	IMP	molecular_function
GO:0005011	macrophage colony-stimula ting factor receptor acti vity	TAS	molecular_function
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0006954	inflammatory response	TAS	biological_process
GO:0007165	signal transduction	TAS	biological_process
GO:0007169	transmembrane receptor pr otein tyrosine kinase sig naling pathway	ISS	biological_process
GO:0007275	multicellular organism de velopment	TAS	biological_process
GO:0008283	cell proliferation	IMP	biological_process
GO:0008283	cell proliferation	TAS	biological_process
GO:0008284	positive regulation of ce ll proliferation	IMP	biological_process
GO:0008284	positive regulation of ce ll proliferation	IMP	biological_process
GO:0008360	regulation of cell shape	IMP	biological_process
GO:0009986	cell surface	ISS	cellular_component
GO:0018108	peptidyl-tyrosine phospho rylation	IDA	biological_process
GO:0019221	cytokine-mediated signali ng pathway	IMP	biological_process
GO:0019955	cytokine binding	ISS	molecular_function
GO:0019955	cytokine binding	IDA	molecular_function
GO:0030097	hemopoiesis	IMP	biological_process
GO:0030224	monocyte differentiation	TAS	biological_process
GO:0030225	macrophage differentiatio n	TAS	biological_process
GO:0030316	osteoclast differentiatio n	ISS	biological_process
GO:0030335	positive regulation of ce ll migration	ISS	biological_process
GO:0031529	ruffle organization	ISS	biological_process
GO:0036006	cellular response to macr ophage colony-stimulating factor stimulus	IMP	biological_process
GO:0036006	cellular response to macr ophage colony-stimulating factor stimulus	IMP	biological_process
GO:0038145	macrophage colony-stimula ting factor signaling pat hway	ISS	biological_process
GO:0042517	positive regulation of ty rosine phosphorylation of Stat3 protein	ISS	biological_process
GO:0042803	protein homodimerization activity	ISS	molecular_function
GO:0045124	regulation of bone resorp tion	ISS	biological_process
GO:0045217	cell-cell junction mainte nance	IMP	biological_process
GO:0046488	phosphatidylinositol meta bolic process	ISS	biological_process
GO:0046777	protein autophosphorylati on	IDA	biological_process
GO:0048015	phosphatidylinositol-medi ated signaling	ISS	biological_process
GO:0060603	mammary gland duct morpho genesis	TAS	biological_process
GO:0061098	positive regulation of pr otein tyrosine kinase act ivity	IMP	biological_process
GO:0070374	positive regulation of ER K1 and ERK2 cascade	ISS	biological_process
GO:0071345	cellular response to cyto kine stimulus	ISS	biological_process
GO:0071902	positive regulation of pr otein serine/threonine ki nase activity	ISS	biological_process
GO:0090197	positive regulation of ch emokine secretion	IMP	biological_process
GO:1990682	CSF1-CSF1R complex	ISS	cellular_component
GO:2000147	positive regulation of ce ll motility	IMP	biological_process
GO:2000249	regulation of actin cytos keleton reorganization	ISS	biological_process

KEGG pathways

hsa05200  Pathways in cancer
hsa04151  PI3K-Akt signaling pathway
hsa04060  Cytokine-cytokine receptor interaction
hsa04015  Rap1 signaling pathway
hsa04014  Ras signaling pathway
hsa05202  Transcriptional misregulation in cancer
hsa04144  Endocytosis
hsa04380  Osteoclast differentiation
hsa04640  Hematopoietic cell lineage

Diseases

Associated diseases	References
Cancer	PMID: 19351817
Choriocarcinoma	KEGG: H00028
Chronic obstructive pulmonary disease (COPD)	PMID: 19625176
Crohn's disease	PMID: 15144560
Endometriosis	PMID: 22365076
Leukoencephalopathy	KEGG: H01807
Myelodysplastic syndrome	PMID: 16631474
Parkinson's disease	PMID: 11852791
Endometriosis	INFBASE15550065

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
22365076	Endometrio sis					C-FMS C-FMS	Show abstract
15550065	Endometrio sis			97 (79 ectopic endometrium, 18 eutopic endome trium)		M-CSFR	Show abstract