Csf1r colony stimulating factor 1 receptor [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Csf1rprovided by MGI
Official Full Name: colony stimulating factor 1 receptorprovided by MGI
Primary source: MGI:MGI:1339758
See related: Ensembl:ENSMUSG00000024621 AllianceGenome:MGI:1339758
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Fms; Fim2; CD115; Csfmr; Fim-2; CSF-1R; M-CSFR; M-CSF-R
Summary: Enables several functions, including macrophage colony-stimulating factor receptor activity; protein homodimerization activity; and protein phosphatase binding activity. Involved in several processes, including nervous system development; positive regulation of intracellular signal transduction; and protein phosphorylation. Located in cell surface and plasma membrane. Part of CSF1-CSF1R complex. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; hemolymphoid system; and limb. Human ortholog(s) of this gene implicated in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia; diabetes mellitus; gastrointestinal system cancer (multiple); lung cancer (multiple); and renal cell carcinoma. Orthologous to human CSF1R (colony stimulating factor 1 receptor). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in spleen adult (RPKM 69.7), placenta adult (RPKM 34.8) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: 18 E1; 18 34.41 cM

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (61238644..61264211)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (61105572..61131139)

Chromosome 18 - NC_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Transient CSF1R inhibition ameliorates behavioral deficits in Cntnap2 knockout and valproic acid-exposed mouse models of autism.
Title: Transient CSF1R inhibition ameliorates behavioral deficits in Cntnap2 knockout and valproic acid-exposed mouse models of autism.
CSF1R blockade slows progression of cerebral hemorrhage by reducing microglial proliferation and increasing infiltration of CD8 + CD122+ T cells into the brain.
Title: CSF1R blockade slows progression of cerebral hemorrhage by reducing microglial proliferation and increasing infiltration of CD8 + CD122+ T cells into the brain.
Inhibiting CSF1R alleviates cerebrovascular white matter disease and cognitive impairment.
Title: Inhibiting CSF1R alleviates cerebrovascular white matter disease and cognitive impairment.
CSF1R inhibition promotes neuroinflammation and behavioral deficits during graft-versus-host disease in mice.
Title: CSF1R inhibition promotes neuroinflammation and behavioral deficits during graft-versus-host disease in mice.
Parasite-induced IFN-gamma regulates host defense via CD115 and mTOR-dependent mechanism of tissue-resident macrophage death.
Title: Parasite-induced IFN-γ regulates host defense via CD115 and mTOR-dependent mechanism of tissue-resident macrophage death.
The CSF1-CSF1R pathway in the trigeminal ganglion mediates trigeminal neuralgia via inflammatory responses in mice.
Title: The CSF1-CSF1R pathway in the trigeminal ganglion mediates trigeminal neuralgia via inflammatory responses in mice.
The ubiquitin ligases Cbl and Cbl-b regulate macrophage growth by controlling CSF-1R import into macropinosomes.
Title: The ubiquitin ligases Cbl and Cbl-b regulate macrophage growth by controlling CSF-1R import into macropinosomes.
Embryonic inhibition of colony-stimulating factor 1 receptor impacts craniofacial morphogenesis.
Title: Embryonic inhibition of colony-stimulating factor 1 receptor impacts craniofacial morphogenesis.
Potential use of glucocorticosteroids in CSF1R mutation carriers - current evidence and future directions.
Title: Potential use of glucocorticosteroids in CSF1R mutation carriers - current evidence and future directions.
CSF1R regulates schizophrenia-related stress response and vascular association of microglia/macrophages.
Title: CSF1R regulates schizophrenia-related stress response and vascular association of microglia/macrophages.

Submit: New GeneRIF Correction See all GeneRIFs (125)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (18) 1 citation
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

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

NoName (e-PCR)
- UniSTS:224344

PMC186377P4 (e-PCR)
- UniSTS:271705

NoName (e-PCR)
- UniSTS:548212

Csf1r (e-PCR), detects polymorphism
- UniSTS:256388

X06368 (e-PCR)
- UniSTS:181129

AI323359 (e-PCR)
- UniSTS:181130

CSF1R_1770 (e-PCR)
- UniSTS:277131

D18Mit140 (e-PCR), detects polymorphism
- UniSTS:128162

PMC219482P1 (e-PCR)
- UniSTS:272080

PMC219482P2 (e-PCR)
- UniSTS:272081

AI413166 (e-PCR)
- UniSTS:160747

Csf1r (e-PCR), detects polymorphism
- UniSTS:265215

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables GPI-linked ephrin receptor activity	IEA Inferred from Electronic Annotation more info
enables boss receptor activity	IEA Inferred from Electronic Annotation more info
enables brain-derived neurotrophic factor receptor activity	IEA Inferred from Electronic Annotation more info
enables cytokine binding	IDA Inferred from Direct Assay more info	PubMed
enables cytokine binding	IPI Inferred from Physical Interaction more info	PubMed
enables cytokine binding	ISO Inferred from Sequence Orthology more info
enables epidermal growth factor receptor activity	IEA Inferred from Electronic Annotation more info
enables fibroblast growth factor receptor activity	IEA Inferred from Electronic Annotation more info
enables growth factor binding	IBA Inferred from Biological aspect of Ancestor more info
enables hepatocyte growth factor receptor activity	IEA Inferred from Electronic Annotation more info
enables histone H2AXY142 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3Y41 kinase activity	IEA Inferred from Electronic Annotation more info
enables insulin receptor activity	IEA Inferred from Electronic Annotation more info
enables insulin-like growth factor receptor activity	IEA Inferred from Electronic Annotation more info
enables macrophage colony-stimulating factor receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables macrophage colony-stimulating factor receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables macrophage colony-stimulating factor receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables macrophage colony-stimulating factor receptor activity	ISO Inferred from Sequence Orthology more info
enables organic cyclic compound binding	ISO Inferred from Sequence Orthology more info
enables placental growth factor receptor activity	IEA Inferred from Electronic Annotation more info
enables platelet-derived growth factor alpha-receptor activity	IEA Inferred from Electronic Annotation more info
enables platelet-derived growth factor beta-receptor activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein phosphatase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein phosphatase binding	ISO Inferred from Sequence Orthology more info
enables protein tyrosine kinase activity	TAS Traceable Author Statement more info
enables protein tyrosine kinase collagen receptor activity	IEA Inferred from Electronic Annotation more info
enables stem cell factor receptor activity	IEA Inferred from Electronic Annotation more info
enables transmembrane receptor protein tyrosine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables transmembrane-ephrin receptor activity	IEA Inferred from Electronic Annotation more info
enables vascular endothelial growth factor receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in Kit signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in axon guidance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in brain-derived neurotrophic factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in cell surface receptor protein tyrosine kinase signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell surface receptor protein tyrosine kinase signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in cell surface receptor protein tyrosine kinase signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell-cell junction maintenance	IEA Inferred from Electronic Annotation more info
involved_in cell-cell junction maintenance	ISO Inferred from Sequence Orthology more info
involved_in cellular response to cytokine stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to macrophage colony-stimulating factor stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to macrophage colony-stimulating factor stimulus	ISO Inferred from Sequence Orthology more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in collagen-activated tyrosine kinase receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in cytokine-mediated signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in dentate gyrus development	ISO Inferred from Sequence Orthology more info
involved_in ephrin receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in epidermal growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in fibroblast growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in forebrain neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hemopoiesis	ISO Inferred from Sequence Orthology more info
involved_in hepatocyte growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in insulin receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in insulin-like growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in macrophage colony-stimulating factor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in microglia development	ISO Inferred from Sequence Orthology more info
involved_in microglial cell activation	ISO Inferred from Sequence Orthology more info
involved_in microglial cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in microglial cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in monocyte homeostasis	ISO Inferred from Sequence Orthology more info
involved_in multicellular organism development	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of epithelial cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of myotube differentiation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of platelet formation	ISO Inferred from Sequence Orthology more info
involved_in neuron projection extension	ISO Inferred from Sequence Orthology more info
involved_in neutrophil homeostasis	ISO Inferred from Sequence Orthology more info
involved_in olfactory bulb development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in osteoclast differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in osteoclast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in peptidyl-tyrosine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in peptidyl-tyrosine phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in platelet-derived growth factor receptor-alpha signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in platelet-derived growth factor receptor-beta signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation by host of viral process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of ERK1 and ERK2 cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of astrocyte activation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of bone mineralization	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell cycle G1/S phase transition	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cell motility	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of chemokine production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of chemokine production	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of leukocyte proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of lymphocyte proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of macrophage chemotaxis	IEA Inferred from Electronic Annotation more info
acts_upstream_of positive regulation of macrophage chemotaxis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of macrophage migration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of macrophage proliferation	IEA Inferred from Electronic Annotation more info
acts_upstream_of positive regulation of macrophage proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of macrophage proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of myoblast proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of osteoclast differentiation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein tyrosine kinase activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of tumor necrosis factor production	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of tyrosine phosphorylation of STAT protein	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein autophosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein autophosphorylation	ISO Inferred from Sequence Orthology more info
involved_in regulation of MAPK cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of bone resorption	ISO Inferred from Sequence Orthology more info
involved_in regulation of bone resorption	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cell shape	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell shape	ISO Inferred from Sequence Orthology more info
involved_in regulation of macrophage migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of mononuclear cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in response to ischemia	IDA Inferred from Direct Assay more info	PubMed
involved_in ruffle organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vascular endothelial growth factor receptor-1 signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in vascular endothelial growth factor signaling pathway	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of CSF1-CSF1R complex	IBA Inferred from Biological aspect of Ancestor more info
part_of CSF1-CSF1R complex	IDA Inferred from Direct Assay more info	PubMed
located_in cell body	ISO Inferred from Sequence Orthology more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in perikaryon	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: macrophage colony-stimulating factor 1 receptor

Names: CSF-1 receptor; CSF-1-R; c-fms; proto-oncogene c-Fms; proto-oncogene fms

NP_001032948.2

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.

mRNA and Protein(s)

NM_001037859.2 → NP_001032948.2 macrophage colony-stimulating factor 1 receptor precursor

See identical proteins and their annotated locations for NP_001032948.2

Status: VALIDATED

Source sequence(s)

AK146069, BB738990, BC066863

Consensus CDS

CCDS29280.1

UniProtKB/Swiss-Prot

P09581, Q3U3P1, Q9DBH9

UniProtKB/TrEMBL

Q0P635, Q3U1Y3, Q3UKC6

Related

ENSMUSP00000025523.7, ENSMUST00000025523.13

Conserved Domains (6) summary

cd05106
Location:541 → 913

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

smart00409
Location:28 → 101

IG; Immunoglobulin

smart00410
Location:113 → 195

IG_like; Immunoglobulin like

pfam13927
Location:399 → 487

Ig_3; Immunoglobulin domain

cd00096
Location:203 → 208

Ig; Ig strand A [structural motif]

cl11960
Location:203 → 295

Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000084.7 Reference GRCm39 C57BL/6J

Range

61238644..61264211

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_007779.2: Suppressed sequence

Description

NM_007779.2: This RefSeq was permanently suppressed because currently insufficient support exists for the transcript and the protein.