• Gene id: 1436

Gene Summary

• Gene Symbol: CSF1R   Gene   UCSC   Ensembl
• Aliases: BANDDOS, 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: 24     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. Li

SNPs

rs508485

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.94621313C>T
NC_000011.9   g.94354479C>T
NM_152431.3   c.*321C>T
NM_152431.2   c.*321C>T|SEQ=[C/T]|GENE=PIWIL4
LOC105369438   105369438

rs7110167

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.94587071T>C
NC_000011.9   g.94320237T>C
NM_152431.3   c.738T>C
NM_152431.2   c.738T>C|SEQ=[T/C]|GENE=PIWIL4
LOC105369438   105369438

rs57607909

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.94593599G>C
NC_000011.9   g.94326765G>C
NM_152431.3   c.1108G>C
NM_152431.2   c.1108G>C
NP_689644.2   p.Ala370Pro|SEQ=[G/C]|GENE=PIWIL4
LOC105369438   105369438

rs593690

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.94604054C>A
NC_000011.10   g.94604054C>T
NC_000011.9   g.94337220C>A
NC_000011.9   g.94337220C>T
NM_152431.3   c.1636C>A
NM_152431.3   c.1636C>T
NM_152431.2   c.1636C>A
NM_152431.2   c.1636C>T
NP_689644.2   p.Leu546Met|SEQ=[C/A/T]|GENE=PIWIL4
L  

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: 107984
  • 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: (21..10-)
    1 (/note="Ig-like-C2-type)
    (107..19-)
    2 (/note="Ig-like-C2-type)
    (203..29-)
    3 (/note="Ig-like-C2-type)
    (299..39-)
    4 (/note="Ig-like-C2-type)
    (402..50-)
    5 (/note="Ig-like-C2-type)
    (582..91-)
    (/note="Protei-)
  • Interpro: IPR030658  IPR007110  IPR036179  IPR013783  IPR003599   IPR003598  IPR013151  IPR011009  IPR000719  IPR017441  IPR001245  IPR008266  IPR020635  IPR001824  
  • Prosite: PS50835 PS00107 PS50011 PS00109 PS00240
  • PDB: 2I0V 2I0Y 2I1M 2OGV 3BEA 3DPK 3KRJ 3KRL 3LCD 3LCO 4DKD 4HW7 4LIQ 4R7H 4R7I 4WRL 4WRM 6IG8 6N33 6T2W
  • PDBsum: 2I0V 2I0Y 2I1M 2OGV 3BEA 3DPK 3KRJ 3KRL 3LCD 3LCO 4DKD 4HW7 4LIQ 4R7H 4R7I 4WRL 4WRM 6IG8 6N33 6T2W
  • DIP: 59421
  • STRING: ENSP00000286301
• Other Databases: GeneCards:  CSF1R  Malacards:  CSF1R

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0002931	response to ischemia	ISS	biological process
GO:0120041	positive regulation of macrophage proliferation	IGI	biological process
GO:0010759	positive regulation of macrophage chemotaxis	IGI	biological process
GO:0009986	cell surface	ISS	cellular component
GO:1990682	CSF1-CSF1R complex	IBA	cellular component
GO:0030316	osteoclast differentiation	IBA	biological process
GO:0019838	growth factor binding	IBA	molecular function
GO:0007275	multicellular organism development	IBA	biological process
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0005011	macrophage colony-stimulating factor receptor activity	IBA	molecular function
GO:0002244	hematopoietic progenitor cell differentiation	IBA	biological process
GO:0043235	receptor complex	IBA	cellular component
GO:0033674	positive regulation of kinase activity	IBA	biological process
GO:0004714	transmembrane receptor protein tyrosine kinase activity	IBA	molecular function
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0019955	cytokine binding	IDA	molecular function
GO:0018108	peptidyl-tyrosine phosphorylation	IDA	biological process
GO:2000147	positive regulation of cell motility	IMP	biological process
GO:0090197	positive regulation of chemokine secretion	IMP	biological process
GO:0046488	phosphatidylinositol metabolic process	ISS	biological process
GO:0030335	positive regulation of cell migration	ISS	biological process
GO:0019221	cytokine-mediated signaling pathway	IMP	biological process
GO:0008360	regulation of cell shape	IMP	biological process
GO:0008284	positive regulation of cell population proliferation	IMP	biological process
GO:2000249	regulation of actin cytoskeleton reorganization	ISS	biological process
GO:0071902	positive regulation of protein serine/threonine kinase activity	ISS	biological process
GO:0071345	cellular response to cytokine stimulus	ISS	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	ISS	biological process
GO:0061098	positive regulation of protein tyrosine kinase activity	IMP	biological process
GO:0060603	mammary gland duct morphogenesis	TAS	biological process
GO:0048015	phosphatidylinositol-mediated signaling	ISS	biological process
GO:0045217	cell-cell junction maintenance	IMP	biological process
GO:0045124	regulation of bone resorption	ISS	biological process
GO:0042531	positive regulation of tyrosine phosphorylation of STAT protein	ISS	biological process
GO:0036006	cellular response to macrophage colony-stimulating factor stimulus	IMP	biological process
GO:0036006	cellular response to macrophage colony-stimulating factor stimulus	IMP	biological process
GO:0031529	ruffle organization	ISS	biological process
GO:0030316	osteoclast differentiation	ISS	biological process
GO:0030225	macrophage differentiation	TAS	biological process
GO:0030224	monocyte differentiation	TAS	biological process
GO:0030097	hemopoiesis	IMP	biological process
GO:0009986	cell surface	ISS	cellular component
GO:0008283	cell population proliferation	IMP	biological process
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	ISS	biological process
GO:0006954	inflammatory response	TAS	biological process
GO:0005011	macrophage colony-stimulating factor receptor activity	IMP	molecular function
GO:0005011	macrophage colony-stimulating factor receptor activity	IMP	molecular function
GO:0001934	positive regulation of protein phosphorylation	IMP	biological process
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0004714	transmembrane receptor protein tyrosine kinase activity	IEA	molecular function
GO:0019221	cytokine-mediated signaling pathway	IEA	biological process
GO:0019955	cytokine binding	IEA	molecular function
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0006954	inflammatory response	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005011	macrophage colony-stimulating factor receptor activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007275	multicellular organism development	TAS	biological process
GO:0008283	cell population proliferation	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0004714	transmembrane receptor protein tyrosine kinase activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005011	macrophage colony-stimulating factor receptor activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	IEA	biological process
GO:0007411	axon guidance	IEA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0019903	protein phosphatase binding	IEA	molecular function
GO:0021879	forebrain neuron differentiation	IEA	biological process
GO:0030316	osteoclast differentiation	IEA	biological process
GO:0031529	ruffle organization	IEA	biological process
GO:0036006	cellular response to macrophage colony-stimulating factor stimulus	IEA	biological process
GO:0038145	macrophage colony-stimulating factor signaling pathway	IEA	biological process
GO:0042531	positive regulation of tyrosine phosphorylation of STAT protein	IEA	biological process
GO:0044794	positive regulation by host of viral process	IEA	biological process
GO:0048015	phosphatidylinositol-mediated signaling	IEA	biological process
GO:0061518	microglial cell proliferation	IEA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IEA	biological process
GO:0071345	cellular response to cytokine stimulus	IEA	biological process
GO:0071902	positive regulation of protein serine/threonine kinase activity	IEA	biological process
GO:1990682	CSF1-CSF1R complex	IEA	cellular component
GO:2000249	regulation of actin cytoskeleton reorganization	IEA	biological process
GO:0002931	response to ischemia	IEA	biological process
GO:0004714	transmembrane receptor protein tyrosine kinase activity	IEA	molecular function
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0008360	regulation of cell shape	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0019955	cytokine binding	IEA	molecular function
GO:0021772	olfactory bulb development	IEA	biological process
GO:0030335	positive regulation of cell migration	IEA	biological process
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0046488	phosphatidylinositol metabolic process	IEA	biological process
GO:0046777	protein autophosphorylation	IEA	biological process
GO:0019955	cytokine binding	ISS	molecular function
GO:0042803	protein homodimerization activity	ISS	molecular function
GO:0005011	macrophage colony-stimulating factor receptor activity	ISS	molecular function
GO:1990682	CSF1-CSF1R complex	ISS	cellular component
GO:0038145	macrophage colony-stimulating factor signaling pathway	ISS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04151	PI3K-Akt signaling pathway
hsa04010	MAPK signaling pathway
hsa04060	Cytokine-cytokine receptor interaction
hsa04014	Ras signaling pathway
hsa04015	Rap1 signaling pathway
hsa05202	Transcriptional misregulation in cancer
hsa04380	Osteoclast differentiation
hsa04061	Viral protein interaction with cytokine and cytokine receptor
hsa04640	Hematopoietic cell lineage
hsa05221	Acute myeloid leukemia

Diseases

Associated diseases	References
Choriocarcinoma	KEGG:H00028
Hereditary diffuse leukoencephalopathy with spheroids	KEGG:H01807
Choriocarcinoma	KEGG:H00028
Hereditary diffuse leukoencephalopathy with spheroids	KEGG:H01807
Breast cancer	PMID:14734466
Cervical squamous cell carcinoma	PMID:18565574
renal cell carcinoma	PMID:18592004
renal cell carcinoma	PMID:22052465
prostate carcinoma in situ	PMID:12381783
cervix uteri carcinoma in situ	PMID:18565574
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq