Display Settings:

Format

Send to:

Choose Destination

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

Gene ID: 1436, updated on 12-Dec-2014
Official Symbol
CSF1Rprovided by HGNC
Official Full Name
colony stimulating factor 1 receptorprovided by HGNC
Primary source
HGNC: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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
See CSF1R in Epigenomics, MapViewer
Location:
5q32
Exon count:
22
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 5 NC_000005.10 (150053291..150113372, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (149432854..149492935, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene tigger transposable element derived 6 Neighboring gene HMG box domain containing 3 Neighboring gene ribosomal protein S20 pseudogene 4 Neighboring gene ribosomal protein L7 pseudogene 1 Neighboring gene platelet-derived growth factor receptor, beta polypeptide Neighboring gene caudal type homeobox 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
Nef 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 Interaction Database

  • 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
  • Rap1 signaling pathway, organism-specific biosystem (from KEGG)
    Rap1 signaling pathway, organism-specific biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
  • Rap1 signaling pathway, conserved biosystem (from KEGG)
    Rap1 signaling pathway, conserved biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
  • Ras signaling pathway, organism-specific biosystem (from KEGG)
    Ras signaling pathway, organism-specific biosystemThe Ras proteins are GTPases that function as molecular switches for signaling pathways regulating cell proliferation, survival, growth, migration, differentiation or cytoskeletal dynamism. Ras prote...
  • 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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

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
PubMed 
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
PubMed 
protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
protein phosphatase binding IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 
cytokine-mediated signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 
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
PubMed 
positive regulation of protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
PubMed 
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 component of 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 
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_001275634.1
NP_005202.2

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

  1. NG_012303.1 

    Range
    5001..65082
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001288705.1NP_001275634.1  macrophage colony-stimulating factor 1 receptor precursor

    See proteins identical to NP_001275634.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC011382, AI863331, BC047521, BC129939, DA219251
    Consensus CDS
    CCDS4302.1
    UniProtKB/TrEMBL
    A2VDG3
    UniProtKB/Swiss-Prot
    P07333
    Conserved Domains (6) summary
    cd05106
    Location:543914
    PTKc_CSF-1R; Catalytic domain of the Protein Tyrosine Kinase, Colony-Stimulating Factor-1 Receptor
    cd00096
    Location:416495
    Ig; Immunoglobulin domain
    cd04975
    Location:299400
    Ig4_SCFR_like; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR) and similar proteins
    smart00410
    Location:209290
    IG_like; Immunoglobulin like
    pfam07714
    Location:582910
    Pkinase_Tyr; Protein tyrosine kinase
    pfam13895
    Location:2185
    Ig_2; Immunoglobulin domain
  2. NM_005211.3NP_005202.2  macrophage colony-stimulating factor 1 receptor precursor

    See proteins identical to NP_005202.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    BC047521, BM825705, BQ028933, BX648599, X03663
    Consensus CDS
    CCDS4302.1
    UniProtKB/Swiss-Prot
    P07333
    Related
    ENSP00000286301, OTTHUMP00000160525, ENST00000286301, OTTHUMT00000252329
    Conserved Domains (6) summary
    cd05106
    Location:543914
    PTKc_CSF-1R; Catalytic domain of the Protein Tyrosine Kinase, Colony-Stimulating Factor-1 Receptor
    cd00096
    Location:416495
    Ig; Immunoglobulin domain
    cd04975
    Location:299400
    Ig4_SCFR_like; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR) and similar proteins
    smart00410
    Location:209290
    IG_like; Immunoglobulin like
    pfam07714
    Location:582910
    Pkinase_Tyr; Protein tyrosine kinase
    pfam13895
    Location:2185
    Ig_2; Immunoglobulin domain

RNA

  1. NR_109969.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate 3' exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AB208819, AC011382, AI863331, BM562096, CD620053, DR001419, M14193

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000005.10 

    Range
    150053291..150113372
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 

    Range
    148865545..148925516
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000137.1 

    Range
    144580804..144640914
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)