GeDiPNet: Comprehensive Gene Data - OMIM, HGNC, Ensembl, UniProt, GO, Transcription Factors & miRNA

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CSF1R (colony stimulating factor 1 receptor)

Gene

1436

Colony stimulating factor 1 receptor

CSF1R

BANDDOS, C-FMS, CD115, CSF-1R, CSFR, FIM2, FMS, GPSC, HDLS, HDLS1, M-CSF-R

5q32

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

Show/Hide all(61)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1801271	T>A,C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121913390	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained, non coding transcript variant
rs121913392	A>C,T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs121913393	A>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs143025739	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant
rs184499252	G>A,T	Likely-benign, benign, pathogenic	Missense variant, synonymous variant, non coding transcript variant, coding sequence variant
rs281860267	T>C	Pathogenic	Splice acceptor variant
rs281860268	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs281860269	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs281860270	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs281860271	C>G,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs281860272	T>C	Pathogenic	Splice acceptor variant
rs281860273	A>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs281860274	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs281860275	C>G	Pathogenic	Intron variant
rs281860276	AGA>-	Pathogenic	Inframe deletion, coding sequence variant, non coding transcript variant
rs281860277	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs281860278	A>C,G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs281860279	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs281860280	G>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs281860281	C>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs387906662	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs397515555	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs397515556	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs397515557	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs587777245	->A	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs587777246	C>A	Pathogenic	Splice donor variant
rs587777247	G>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016546	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs690016547	A>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016548	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016549	A>G,T	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016550	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016551	C>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016552	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016553	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016554	T>C	Pathogenic	Splice acceptor variant
rs690016555	A>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016556	G>A	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs690016557	C>G,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016558	T>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016559	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016560	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016561	T>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016562	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016563	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016564	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016565	A>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016566	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs917027829	G>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs1057519802	A>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057520014	C>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1351319114	G>A	Pathogenic	Missense variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs1554101963	TCT>-	Uncertain-significance, pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant
rs1561901881	C>G	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1561904557	GGAT>TGCC	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1561905293	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1561912628	C>T	Pathogenic	Intron variant
rs1561913526	C>G	Pathogenic	Splice acceptor variant
rs1581280059	G>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1581289103	CT>-	Pathogenic	Intron variant

Show/Hide all(62)

miRTarBase ID	miRNA	Experiments	Reference
MIRT006103	hsa-miR-155-5p	ELISA, Luciferase reporter assay, qRT-PCR, Western blot	21355095
MIRT006103	hsa-miR-155-5p	ELISA, Luciferase reporter assay, qRT-PCR, Western blot	21355095
MIRT006103	hsa-miR-155-5p	ELISA, Luciferase reporter assay, qRT-PCR, Western blot	21355095
MIRT006103	hsa-miR-155-5p	Other	20584899
MIRT438232	hsa-miR-22-3p	Luciferase reporter assay, qRT-PCR	24198819
MIRT438232	hsa-miR-22-3p	Luciferase reporter assay, qRT-PCR	24198819
MIRT438231	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR	24198819
MIRT438231	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR	24198819
MIRT006103	hsa-miR-155-5p	Luciferase reporter assay, qRT-PCR	24198819
MIRT006103	hsa-miR-155-5p	Luciferase reporter assay, qRT-PCR	24198819
MIRT438232	hsa-miR-22-3p	Luciferase reporter assay, qRT-PCR	24198819
MIRT438232	hsa-miR-22-3p	Luciferase reporter assay, qRT-PCR	24198819
MIRT438231	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR	24198819
MIRT438231	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR	24198819
MIRT006103	hsa-miR-155-5p	Luciferase reporter assay, qRT-PCR	24198819
MIRT006103	hsa-miR-155-5p	Luciferase reporter assay, qRT-PCR	24198819
MIRT911688	hsa-miR-2861	CLIP-seq
MIRT911689	hsa-miR-3120-5p	CLIP-seq
MIRT911690	hsa-miR-3160-3p	CLIP-seq
MIRT911691	hsa-miR-3659	CLIP-seq
MIRT911692	hsa-miR-3675-5p	CLIP-seq
MIRT911693	hsa-miR-3689a-3p	CLIP-seq
MIRT911694	hsa-miR-3689c	CLIP-seq
MIRT911695	hsa-miR-4487	CLIP-seq
MIRT911696	hsa-miR-4639-3p	CLIP-seq
MIRT911697	hsa-miR-4651	CLIP-seq
MIRT911698	hsa-miR-4658	CLIP-seq
MIRT911699	hsa-miR-4727-5p	CLIP-seq
MIRT911700	hsa-miR-4728-5p	CLIP-seq
MIRT911701	hsa-miR-4769-3p	CLIP-seq
MIRT911702	hsa-miR-558	CLIP-seq
MIRT911703	hsa-miR-574-5p	CLIP-seq
MIRT911704	hsa-miR-608	CLIP-seq
MIRT911705	hsa-miR-622	CLIP-seq
MIRT911700	hsa-miR-4728-5p	CLIP-seq
MIRT2206225	hsa-miR-3175	CLIP-seq
MIRT911693	hsa-miR-3689a-3p	CLIP-seq
MIRT911694	hsa-miR-3689c	CLIP-seq
MIRT2206226	hsa-miR-4265	CLIP-seq
MIRT2206227	hsa-miR-4296	CLIP-seq
MIRT2206228	hsa-miR-4322	CLIP-seq
MIRT2206229	hsa-miR-4648	CLIP-seq
MIRT2206230	hsa-miR-4654	CLIP-seq
MIRT2206231	hsa-miR-4670-3p	CLIP-seq
MIRT2206232	hsa-miR-4693-3p	CLIP-seq
MIRT911700	hsa-miR-4728-5p	CLIP-seq
MIRT2206233	hsa-miR-4769-5p	CLIP-seq
MIRT2447701	hsa-miR-219-1-3p	CLIP-seq
MIRT2206225	hsa-miR-3175	CLIP-seq
MIRT2447702	hsa-miR-3616-5p	CLIP-seq
MIRT2447703	hsa-miR-3647-5p	CLIP-seq
MIRT911693	hsa-miR-3689a-3p	CLIP-seq
MIRT911694	hsa-miR-3689c	CLIP-seq
MIRT2206226	hsa-miR-4265	CLIP-seq
MIRT2206227	hsa-miR-4296	CLIP-seq
MIRT2206228	hsa-miR-4322	CLIP-seq
MIRT2206229	hsa-miR-4648	CLIP-seq
MIRT2206230	hsa-miR-4654	CLIP-seq
MIRT2206231	hsa-miR-4670-3p	CLIP-seq
MIRT911700	hsa-miR-4728-5p	CLIP-seq
MIRT2206233	hsa-miR-4769-5p	CLIP-seq
MIRT2447704	hsa-miR-573	CLIP-seq

Transcription factors

Show/Hide all(2)

Transcription factor	Regulation	Reference
NR3C1	Unknown	11891846
RUNX1	Unknown	8585955;9209363

Show/Hide all(68)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001934	Process	Positive regulation of protein phosphorylation	IMP	20504948
GO:0002244	Process	Hematopoietic progenitor cell differentiation	IBA	21873635
GO:0002931	Process	Response to ischemia	ISS	8922060
GO:0004713	Function	Protein tyrosine kinase activity	TAS	23392676
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IBA	21873635
GO:0005011	Function	Macrophage colony-stimulating factor receptor activity	IBA	21873635
GO:0005011	Function	Macrophage colony-stimulating factor receptor activity	IMP	7683918, 20504948
GO:0005011	Function	Macrophage colony-stimulating factor receptor activity	ISS
GO:0005515	Function	Protein binding	IPI	22153499, 22483114, 22902366, 23478061, 26235028
GO:0005524	Function	ATP binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0006954	Process	Inflammatory response	TAS	19132917
GO:0007165	Process	Signal transduction	TAS	8981357
GO:0007169	Process	Transmembrane receptor protein tyrosine kinase signaling pathway	IBA	21873635
GO:0007169	Process	Transmembrane receptor protein tyrosine kinase signaling pathway	ISS
GO:0007275	Process	Multicellular organism development	IBA	21873635
GO:0007411	Process	Axon guidance	IEA
GO:0008283	Process	Cell population proliferation	IMP	7683918
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	20504948
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0008360	Process	Regulation of cell shape	IMP	15117969
GO:0009986	Component	Cell surface	ISS	8922060
GO:0010759	Process	Positive regulation of macrophage chemotaxis	IGI	26754294
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IDA	20504948
GO:0019221	Process	Cytokine-mediated signaling pathway	IMP	20504948
GO:0019221	Process	Cytokine-mediated signaling pathway	TAS
GO:0019903	Function	Protein phosphatase binding	IEA
GO:0019955	Function	Cytokine binding	IDA	20504948
GO:0019955	Function	Cytokine binding	ISS	19017797
GO:0021772	Process	Olfactory bulb development	IEA
GO:0021879	Process	Forebrain neuron differentiation	IEA
GO:0030097	Process	Hemopoiesis	IMP	7683918
GO:0030224	Process	Monocyte differentiation	TAS	19132917
GO:0030225	Process	Macrophage differentiation	TAS	19132917
GO:0030316	Process	Osteoclast differentiation	IBA	21873635
GO:0030316	Process	Osteoclast differentiation	ISS
GO:0030335	Process	Positive regulation of cell migration	ISS
GO:0031529	Process	Ruffle organization	ISS
GO:0032722	Process	Positive regulation of chemokine production	IMP	20829061
GO:0033674	Process	Positive regulation of kinase activity	IBA	21873635
GO:0036006	Process	Cellular response to macrophage colony-stimulating factor stimulus	IMP	7683918, 20504948
GO:0038145	Process	Macrophage colony-stimulating factor signaling pathway	ISS
GO:0042531	Process	Positive regulation of tyrosine phosphorylation of STAT protein	ISS
GO:0042803	Function	Protein homodimerization activity	ISS	19017797
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0043235	Component	Receptor complex	IBA	21873635
GO:0044794	Process	Positive regulation by host of viral process	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0045124	Process	Regulation of bone resorption	ISS
GO:0045217	Process	Cell-cell junction maintenance	IMP	15117969
GO:0046488	Process	Phosphatidylinositol metabolic process	ISS
GO:0046777	Process	Protein autophosphorylation	IDA	20504948
GO:0048015	Process	Phosphatidylinositol-mediated signaling	ISS
GO:0060603	Process	Mammary gland duct morphogenesis	TAS	15117969
GO:0061098	Process	Positive regulation of protein tyrosine kinase activity	IMP	7681396
GO:0061518	Process	Microglial cell proliferation	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	ISS
GO:0071345	Process	Cellular response to cytokine stimulus	ISS
GO:0071902	Process	Positive regulation of protein serine/threonine kinase activity	ISS
GO:0120041	Process	Positive regulation of macrophage proliferation	IGI	26754294
GO:1990682	Component	CSF1-CSF1R complex	IBA	21873635
GO:1990682	Component	CSF1-CSF1R complex	ISS	19017797
GO:2000147	Process	Positive regulation of cell motility	IMP	15117969
GO:2000249	Process	Regulation of actin cytoskeleton reorganization	ISS

MIM	HGNC	e!Ensembl
164770	2433	ENSG00000182578

Protein

UniProt ID

P07333

Protein 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)

Protein function

Tyrosine-protein kinase that acts as a cell-surface receptor for CSF1 and IL34 and plays an essential role in the regulation of survival, proliferation and differentiation of hematopoietic precursor cells, especially mononuclear phagocytes, such

PDB

2I0V , 2I0Y , 2I1M , 2OGV , 3BEA , 3DPK , 3KRJ , 3KRL , 3LCD , 3LCO , 4DKD , 4HW7 , 4LIQ , 4R7H , 4R7I , 4WRL , 4WRM , 6IG8 , 6N33 , 6T2W , 6WXJ , 7MFC , 8CGC , 8JOT , 8W1L

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00047	ig	207 → 293	Immunoglobulin domain	Domain
PF13927	Ig_3	397 → 489		Domain
PF07714	PK_Tyr_Ser-Thr	582 → 910	Protein tyrosine and serine/threonine kinase	Domain

Sequence

MGPGVLLLLLVATAWHGQGIPVIEPSVPELVVKPGATVTLRCVGNGSVEWDGPPSPHWTL
YSDGSSSILSTNNATFQNTGTYRCTEPGDPLGGSAAIHLYVKDPARPWNVLAQEVVVFED
QDALLPCLLTDPVLEAGVSLVRVRGRPLMRHTNYSFSPWHGFTIHRAKFIQSQDYQCSAL
MGGRKVMSISIRLKVQKVIPGPPALTLVPAELVRIRGEAAQIVCSASSVDVNFDVFLQHN
NTKLAIPQQSDFHNNRYQKVLTLNLDQVDFQHAGNYSCVASNVQGKHSTSMFFRVVESAY
LNLSSEQNLIQEVTVGEGLNLKVMVEAYPGLQGFNWTYLGPFSDHQPEPKLANATTKDTY
RHTFTLSLPRLKPSEAGRYSFLARNPGGWRALTFELTLRYPPEVSVIWTFINGSGTLLCA
ASGYPQPNVTWLQCSGHTDRCDEAQVLQVWDDPYPEVLSQEPFHKVTVQSLLTVETLEHN
QTYECRAHNSVGSGSWAFIPISAGAHTHPPDEFLFTPVVVACMSIMALLLLLLLLLLYKY
KQKPKYQVRWKIIESYEGNSYTFIDPTQLPYNEKWEFPRNNLQFGKTLGAGAFGKVVEAT
AFGLGKEDAVLKVAVKMLKSTAHADEKEALMSELKIMSHLGQHENIVNLLGACTHGGPVL
VITEYCCYGDLLNFLRRKAEAMLGPSLSPGQDPEGGVDYKNIHLEKKYVRRDSGFSSQGV
DTYVEMRPVSTSSNDSFSEQDLDKEDGRPLELRDLLHFSSQVAQGMAFLASKNCIHRDVA
ARNVLLTNGHVAKIGDFGLARDIMNDSNYIVKGNARLPVKWMAPESIFDCVYTVQSDVWS
YGILLWEIFSLGLNPYPGILVNSKFYKLVKDGYQMAQPAFAPKNIYSIMQACWALEPTHR
PTFQQICSFLQEQAQEDRRERDYTNLPSSSRSGGSGSSSSELEEESSSEHLTCCEQGDIA
QPLLQPNNYQFC

Sequence length

972

Interactions

View interactions

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