CSF1R colony stimulating factor 1 receptor [Homo sapiens (human)] - Gene

Summary

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Official Symbol: CSF1Rprovided by HGNC
Official Full Name: colony stimulating factor 1 receptorprovided by HGNC
Primary source: HGNC:2433
See related: Ensembl:ENSG00000182578; HPRD:01269; MIM:164770; Vega:OTTHUMG00000130050
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FMS; CSFR; FIM2; HDLS; C-FMS; CD115; CSF-1R; M-CSF-R
Summary: 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. [provided by RefSeq, Jul 2008]

Genomic context

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Location :: 5q32

Sequence :: Chromosome: 5; NC_000005.9 (149432854..149492935, complement)

See CSF1R in Epigenomics, MapViewer

Chromosome 5 - NC_000005.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

Data indicate that blood treated with EDTA and refrigerated maintained CD115 stability.
Title: Mouse blood monocytes: standardizing their identification and analysis using CD115.
exome sequencing identified heterozygous CSF1R mutations (p.I794T and p.R777W) in 2 families with autosomal dominantly inherited leukoencephalopathy; mutational analysis of CSF1R in 21 sporadic cases revealed no mutations; another novel CSF1R mutation, p.C653Y, was identified in 1 patient with hereditary diffuse leukoencephalopathy with spheroids
Title: CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy.
Sequencing in this study establishes that CSF1R mutations observed in hereditary diffuse leukoencephalopathy (HDLS) also cause familial pigmented orthochromatic leukodystrophy (POLD).
Title: CSF1R mutations link POLD and HDLS as a single disease entity.
Targeting the activity of CSF1R inhibits microglial proliferation and slows neuronal damage and disease progression.
Title: Regulation of microglial proliferation during chronic neurodegeneration.
CSF1R and cd68 gene expression is an independent predictor for progression-free survival of Hodgkin lymphoma patients.
Title: Gene expression profiling of microdissected Hodgkin Reed-Sternberg cells correlates with treatment outcome in classical Hodgkin lymphoma.
Inhibition of the c-fms proto-oncogene autocrine loop and tumor phenotype in glucocorticoid stimulated human breast carcinoma cells.
Title: Inhibition of the c-fms proto-oncogene autocrine loop and tumor phenotype in glucocorticoid stimulated human breast carcinoma cells.
Macrophage proliferation is regulated through CSF-1 receptor tyrosines 544, 559, and 807
Title: Macrophage proliferation is regulated through CSF-1 receptor tyrosines 544, 559, and 807.
Suggest that CSF-1 and its receptor, C-FMS, are involved in the genesis of early endometriotic lesions and that endometriotic lesions contribute to elevated CSF-1 levels in the peritoneal fluid of women with endometriosis.
Title: Increased expression of macrophage colony-stimulating factor and its receptor in patients with endometriosis.
Studies indicate that Macrophage-colony stimulating factor (CSF-1) signaling through its receptor (CSF-1R) promotes the differentiation of myeloid progenitors.
Title: Therapeutic applications of macrophage colony-stimulating factor-1 (CSF-1) and antagonists of CSF-1 receptor (CSF-1R) signaling.
Data suggest that sunitinib binds preferentially to the inactive form, preventing the activation of CSF-1R.
Title: Characterization of kinase inhibitors using different phosphorylation states of colony stimulating factor-1 receptor tyrosine kinase.

Submit: New GeneRIF Correction See all (63)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Gliosis, familial progressive subcortical

MIM: 221820

Genetic Testing Registry

Summary from GeneReviews: CSF1R-Related Hereditary Diffuse Leukoencephalopathy with Spheroids

CSF1R-related hereditary diffuse leukoencephalopathy with spheroids (HDLS) is characterized by executive dysfunction, memory decline, personality changes, motor impairment, and seizures. A frontal lobe syndrome (e.g., loss of judgment, lack of social inhibitors, lack of insight, and motor persistence) usually appears early in the disease course. The mean age of onset is usually in the fourth decade. Affected individuals eventually become bedridden with spasticity and rigidity. The disease course ranges from two to 11 or more years (mean: 6 years).

Diagnosis Testing

The diagnosis is suspected in individuals with characteristic clinical and brain MRI findings and is confirmed by identification of a heterozygous mutation in CSF1R, the only gene in which mutations are known to cause HDLS.

Genetic Counseling

CSF1R-related HDLS is inherited in an autosomal dominant manner. Individuals with HDLS usually have an affected parent; de novo mutations can occur. Each child of an individual with HDLS has a 50% chance of inheriting the mutation. Prenatal testing is possible if the disease-causing mutation in a family is known.

References

PMID: 22934315

HIV-1 protein interactions

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Protein	Gene	Interaction	Pubs
Nef, p27	nef	HIV-1 Nef downregulates CSFR expression in M2-type macrophages	PubMed
	nef	HIV-1 Nef causes the FMS N-glycosylation defect and induces relocalization of the GM130 by activating the p56Hck/MEK/ERK/GRASP65 phosphorylation cascade in the Golgi	PubMed
	nef	HIV-1 Nef binds Hck and induces skewed Golgi-localization of Hck, which leads to Fms maturation arrest	PubMed
	nef	HIV-1 Nef inhibits the activation of M-CSF receptor signaling by means of the activation of Hck and the subsequent induction of an aberrant molecular association between Hck and M-CSF receptor complex	PubMed

Go to the HIV-1, Human Protein Interaction Database

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_005202.2	NP_005532.2	INPP5D	BIND	PubMed	CSF1R (c-FMS) interacts with INPP5D. This interaction was modeled on a demonstrated interaction between CSF1R and INPP5D from unspecified species.
NP_005202.2	NP_001558.2	INPPL1	BIND	PubMed	CSF1R (c-FMS) interacts with INPPL1 (SHIP-2). This interaction was modeled on a demonstrated interaction between CSF1R and INPPL1 from unspecified species.
NP_005202.2		PIK3R1	BIND	PubMed	CSF1R (c-FMS) interacts with PIK3R1 (PI3'-k).his interaction was modeled on a demonstrated interaction between CSF1R and PIK3R1 from unspecified species.
NP_005202.2	NP_003736.1	SOCS1	BIND	PubMed	Socs1 interacts with CSF1-R. This interaction was modeled on a demonstrated interaction between mouse proteins.
P07333	P22681	CBL	HPRD	PubMed
P07333	P09603	CSF1	HPRD	PubMed
P07333	P07333	CSF1R	HPRD	PubMed
P07333	P06241	FYN	HPRD	PubMed
P07333	O75791	GRAP2	HPRD	PubMed
P07333	P62993	GRB2	HPRD	PubMed
P07333	O00145	INPP5D	HPRD	PubMed
P07333	SHIP2	INPPL1	HPRD	PubMed
P07333	P07948	LYN	HPRD	PubMed
P07333	P27986	PIK3R1	HPRD	PubMed
P07333	O00459	PIK3R2	HPRD	PubMed
P07333	P20936	RASA1	HPRD	PubMed
P07333	P29353	SHC1	HPRD	PubMed
P07333	O15524	SOCS1	HPRD	PubMed
P07333	O14543	SOCS3	HPRD	PubMed
P07333	Q07889	SOS1	HPRD	PubMed
P07333	Q13769	THOC5	HPRD	PubMed
P07333	P07947	YES1	HPRD	PubMed
BioGRID:107823	BioGRID:107315	CBL	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:107823	BioGRID:107822	CSF1	BioGRID	PubMed	Reconstituted Complex
BioGRID:107823	BioGRID:108810	FYN	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107823	BioGRID:114799	GRAP2	BioGRID	PubMed	Reconstituted Complex
BioGRID:107823	BioGRID:109142	GRB2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:107823	BioGRID:109552	HSP90AA1	BioGRID	PubMed	Affinity Capture-Luminescence
BioGRID:107823	BioGRID:109891	ITGAV	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107823	BioGRID:110245	LYN	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107823	BioGRID:111313	PIK3R1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107823	BioGRID:112361	SHC1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107823	BioGRID:114203	SOCS1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:107823	BioGRID:114488	SOCS3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107823	BioGRID:112537	SOS1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107823	BioGRID:112592	SRC	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107823	BioGRID:120759	STAP2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107823	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:107823	BioGRID:113357	YES1	BioGRID	PubMed	Affinity Capture-Western

Pathways from BioSystems

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C-MYB transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
C-MYB transcription factor network, organism-specific biosystem
C-MYB transcription factor network
Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
Endocytosis, organism-specific biosystem (from KEGG)
Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
Endocytosis, conserved biosystem (from KEGG)
Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
Hematopoietic cell lineage, organism-specific biosystem (from KEGG)
Hematopoietic cell lineage, organism-specific biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
Hematopoietic cell lineage, conserved biosystem (from KEGG)
Hematopoietic cell lineage, conserved biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
Integrins in angiogenesis, organism-specific biosystem (from Pathway Interaction Database)
Integrins in angiogenesis, organism-specific biosystem
Integrins in angiogenesis
Osteoclast differentiation, organism-specific biosystem (from KEGG)
Osteoclast differentiation, organism-specific biosystemThe osteoclasts, multinucleared cells originating from the hematopoietic monocyte-macrophage lineage, are responsible for bone resorption. Osteoclastogenesis is mainly regulated by signaling pathways...
Osteoclast differentiation, conserved biosystem (from KEGG)
Osteoclast differentiation, conserved biosystemThe osteoclasts, multinucleared cells originating from the hematopoietic monocyte-macrophage lineage, are responsible for bone resorption. Osteoclastogenesis is mainly regulated by signaling pathways...
PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
Pathways in cancer, organism-specific biosystem (from KEGG)
Pathways in cancer, organism-specific biosystem
Pathways in cancer
Signaling events mediated by PTP1B, organism-specific biosystem (from Pathway Interaction Database)
Signaling events mediated by PTP1B, organism-specific biosystem
Signaling events mediated by PTP1B
Signaling events mediated by TCPTP, organism-specific biosystem (from Pathway Interaction Database)
Signaling events mediated by TCPTP, organism-specific biosystem
Signaling events mediated by TCPTP
Transcriptional misregulation in cancer, organism-specific biosystem (from KEGG)
Transcriptional misregulation in cancer, organism-specific biosystem
Transcriptional misregulation in cancer
Transcriptional misregulation in cancer, conserved biosystem (from KEGG)
Transcriptional misregulation in cancer, conserved biosystem
Transcriptional misregulation in cancer

General gene information

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Markers

RH69916 (e-PCR)
- UniSTS:6912

D5S1865 (e-PCR)
- UniSTS:47366

GDB:212649 (e-PCR)
- UniSTS:156169

D5S2619 (e-PCR)
- UniSTS:54287

D5S2602 (e-PCR)
- UniSTS:56095

WI-18889 (e-PCR)
- UniSTS:44587

PMC156747P2 (e-PCR)
- UniSTS:271426

PMC156747P3 (e-PCR)
- UniSTS:271427

PMC156747P4 (e-PCR)
- UniSTS:271428

PDGFRB_1343 (e-PCR)
- UniSTS:277577

MARC_12115-12116:1004707389:1 (e-PCR)
- UniSTS:267343

GDB:192951 (e-PCR)
- UniSTS:155731

GDB:192952 (e-PCR)
- UniSTS:155732

RH15986 (e-PCR)
- UniSTS:79225

CSF1R_1770 (e-PCR)
- UniSTS:277131

D5S1469 (e-PCR), detects polymorphism
- UniSTS:81844

GDB:181638 (e-PCR)
- UniSTS:155324

WI-18300 (e-PCR)
- UniSTS:18664

D16S674 (e-PCR)
- UniSTS:24302

Genotypes

See CSF1R SNP Geneview Report
See CSF1R SNP Genotype Report
See CSF1R SNP Variation Viewer Report

Homology

Homologs of the CSF1R gene: The CSF1R gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
cytokine binding	IDA Inferred from Direct Assay more info
cytokine binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
macrophage colony-stimulating factor receptor activity	IMP Inferred from Mutant Phenotype more info
protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Process	Evidence Code	Pubs
cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
cell-cell junction maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
cellular response to cytokine stimulus	ISS Inferred from Sequence or Structural Similarity more info
cellular response to macrophage colony-stimulating factor stimulus	IMP Inferred from Mutant Phenotype more info
cytokine-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info
hemopoiesis	IMP Inferred from Mutant Phenotype more info	PubMed
inflammatory response	TAS Traceable Author Statement more info	PubMed
innate immune response	IEA Inferred from Electronic Annotation more info
macrophage colony-stimulating factor signaling pathway	IMP Inferred from Mutant Phenotype more info
macrophage colony-stimulating factor signaling pathway	TAS Traceable Author Statement more info	PubMed
macrophage differentiation	TAS Traceable Author Statement more info	PubMed
mammary gland duct morphogenesis	TAS Traceable Author Statement more info	PubMed
monocyte differentiation	TAS Traceable Author Statement more info	PubMed
multicellular organismal development	TAS Traceable Author Statement more info	PubMed
osteoclast differentiation	ISS Inferred from Sequence or Structural Similarity more info
peptidyl-tyrosine phosphorylation	IDA Inferred from Direct Assay more info
phosphatidylinositol metabolic process	ISS Inferred from Sequence or Structural Similarity more info
phosphatidylinositol-mediated signaling	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of ERK1 and ERK2 cascade	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of cell migration	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of cell motility	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of chemokine secretion	IMP Inferred from Mutant Phenotype more info
positive regulation of protein phosphorylation	IMP Inferred from Mutant Phenotype more info
positive regulation of protein serine/threonine kinase activity	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of protein tyrosine kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of tyrosine phosphorylation of Stat3 protein	ISS Inferred from Sequence or Structural Similarity more info
protein autophosphorylation	IDA Inferred from Direct Assay more info
regulation of actin cytoskeleton reorganization	ISS Inferred from Sequence or Structural Similarity more info
regulation of bone resorption	ISS Inferred from Sequence or Structural Similarity more info
regulation of cell shape	IMP Inferred from Mutant Phenotype more info	PubMed
ruffle organization	ISS Inferred from Sequence or Structural Similarity more info
signal transduction	TAS Traceable Author Statement more info	PubMed
transmembrane receptor protein tyrosine kinase signaling pathway	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
cell surface	ISS Inferred from Sequence or Structural Similarity more info
integral to plasma membrane	TAS Traceable Author Statement more info	PubMed
plasma membrane	TAS Traceable Author Statement more info	PubMed
receptor complex	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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Preferred Names: macrophage colony-stimulating factor 1 receptor

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

NP_005202.2

EC 2.7.10.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012303.1 RefSeqGene

Range

5001..65082

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005211.3 → NP_005202.2 macrophage colony-stimulating factor 1 receptor precursor

Status: REVIEWED

Source sequence(s)

BC047521, BM825705, BQ028933, BX648599, X03663

Consensus CDS

CCDS4302.1

UniProtKB/Swiss-Prot

P07333

Related

ENSP00000286301, OTTHUMP00000160525, ENST00000286301, OTTHUMT00000252329

Conserved Domains (5) summary

cd05106
Location:543 – 914
Blast Score: 2002

PTKc_CSF-1R; Catalytic domain of the Protein Tyrosine Kinase, Colony-Stimulating Factor-1 Receptor

cd00096
Location:416 – 495
Blast Score: 100

Ig; Immunoglobulin domain

cd04975
Location:299 – 400
Blast Score: 352

Ig4_SCFR_like; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR) and similar proteins

smart00409
Location:28 – 85
Blast Score: 114

IG; Immunoglobulin

pfam07714
Location:741 – 910
Blast Score: 726

Pkinase_Tyr; Protein tyrosine kinase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000005.9 Reference GRCh37.p10 Primary Assembly

Range

149432854..149492935, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000137.1 Alternate HuRef

Range

144580804..144640914, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018916.1 Alternate CHM1_1.0

Range

149709250..149769218, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01026285.1 (39973..48222)	None
genomic	ABBA01026286.1	None
genomic	ABBA01026287.1 (6443..7321)	None
genomic	AC011382.4 (5627..65704)	None
genomic	AMYH01015706.1 (89533..149501)	None
genomic	CH471062.2	EAW61749.1
		EAW61750.1
genomic	CS166288.1	CAJ32237.1
genomic	FB505362.1	CAV32774.1
genomic	HI638416.1	CBX55881.1
genomic	JA312081.1	CCA65436.1
genomic	K03012.1	AAA88039.1
genomic	M11067.1	AAA35848.1
genomic	M14002.1	AAA35849.1
genomic	U63963.1	AAB51696.1
genomic	U78096.1	AAB51235.1
mRNA	AB208819.1	BAD92056.1
mRNA	AK294467.1	BAG57697.1
mRNA	AK304491.1	BAG65300.1
mRNA	BC047521.1	AAH47521.1
mRNA	BC129939.1	AAI29940.1
mRNA	BM825705.1	None
mRNA	BQ028933.1	None
mRNA	BX648599.1	None
mRNA	EU826593.1	ACF47629.1
mRNA	M14193.1	AAA35834.1
mRNA	M25786.1	AAA58421.1
mRNA	X03663.1	CAA27300.1