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

Gene ID: 1436, updated on 27-Jun-2020

Summary

Official Symbol
CSF1Rprovided by HGNC
Official Full Name
colony stimulating factor 1 receptorprovided by HGNC
Primary source
HGNC:HGNC:2433
See related
Ensembl:ENSG00000182578 MIM:164770
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; BANDDOS; 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. Expression of a splice variant from an LTR promoter has been found in Hodgkin lymphoma (HL), HL cell lines and anaplastic large cell lymphoma. [provided by RefSeq, Mar 2017]
Expression
Broad expression in spleen (RPKM 68.6), placenta (RPKM 60.0) and 22 other tissues See more
Orthologs

Genomic context

See CSF1R in Genome Data Viewer
Location:
5q32
Exon count:
24
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 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 containing 3 Neighboring gene ribosomal protein S20 pseudogene 4 Neighboring gene enhancer in exon 7 of CSF1R Neighboring gene CSF1R promoter/intronic regulatory region Neighboring gene LTR-CSF1R promoter Neighboring gene ribosomal protein L7 pseudogene 1 Neighboring gene CSF1R promoter E1 Neighboring gene platelet derived growth factor receptor beta Neighboring gene caudal type homeobox 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
macrophage colony-stimulating factor receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
macrophage colony-stimulating factor receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
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
 
protein tyrosine kinase activity TAS
Traceable Author Statement
more info
PubMed 
transmembrane receptor protein tyrosine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
axon guidance IEA
Inferred from Electronic Annotation
more info
 
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 
cytokine-mediated signaling pathway TAS
Traceable Author Statement
more info
 
forebrain neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
hematopoietic progenitor cell differentiation IBA
Inferred from Biological aspect of Ancestor
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 ISS
Inferred from Sequence or Structural Similarity
more info
 
macrophage differentiation TAS
Traceable Author Statement
more info
PubMed 
mammary gland duct morphogenesis TAS
Traceable Author Statement
more info
PubMed 
microglial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
monocyte differentiation TAS
Traceable Author Statement
more info
PubMed 
multicellular organism development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
olfactory bulb development IEA
Inferred from Electronic Annotation
more info
 
osteoclast differentiation IBA
Inferred from Biological aspect of Ancestor
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 by host of viral process IEA
Inferred from Electronic Annotation
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 kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of macrophage chemotaxis IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of macrophage proliferation IGI
Inferred from Genetic Interaction
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 STAT 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 
response to ischemia ISS
Inferred from Sequence or Structural Similarity
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane receptor protein tyrosine kinase signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
CSF1-CSF1R complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
CSF1-CSF1R complex ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cell surface ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
macrophage colony-stimulating factor 1 receptor
Names
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
NP_001275634.1
NP_001336665.1
NP_001362249.1
NP_001362250.1
NP_005202.2

NCBI Reference Sequences (RefSeq)

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_012303.2 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001288705.3NP_001275634.1  macrophage colony-stimulating factor 1 receptor isoform a precursor

    See identical proteins and their annotated locations for NP_001275634.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an internal transcription initiation site compared to variant 4. Variants 1, 2, 4, and 5 all encode the same isoform (a).
    Source sequence(s)
    AC011382
    Consensus CDS
    CCDS4302.1
    UniProtKB/Swiss-Prot
    P07333
    Conserved Domains (5) summary
    cd05106
    Location:543914
    PTKc_CSF-1R; Catalytic domain of the Protein Tyrosine Kinase, Colony-Stimulating Factor-1 Receptor
    smart00410
    Location:2885
    IG_like; Immunoglobulin like
    pfam00047
    Location:207293
    ig; Immunoglobulin domain
    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
  2. NM_001349736.1NP_001336665.1  macrophage colony-stimulating factor 1 receptor isoform a precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) encodes the longest transcript. Variants 1, 2, 4, and 5 all encode the same isoform (a). The promoter and 5' terminal exon sequence for this variant are from a long terminal repeat (LTR). (PMID: 20436485)
    Source sequence(s)
    AC011382, BQ028933
    Consensus CDS
    CCDS4302.1
    Conserved Domains (5) summary
    cd05106
    Location:543914
    PTKc_CSF-1R; Catalytic domain of the Protein Tyrosine Kinase, Colony-Stimulating Factor-1 Receptor
    smart00410
    Location:2885
    IG_like; Immunoglobulin like
    pfam00047
    Location:207293
    ig; Immunoglobulin domain
    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
  3. NM_001375320.1NP_001362249.1  macrophage colony-stimulating factor 1 receptor isoform a precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5), as well as variants 1, 2, and 4, encodes isoform a.
    Source sequence(s)
    AC011382
  4. NM_001375321.1NP_001362250.1  macrophage colony-stimulating factor 1 receptor isoform b

    Status: REVIEWED

    Source sequence(s)
    AC011382
  5. NM_005211.3NP_005202.2  macrophage colony-stimulating factor 1 receptor isoform a precursor

    See identical proteins and their annotated locations for NP_005202.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 4. Variants 1, 2, 4, and 5 all encode the same isoform (a).
    Source sequence(s)
    BC047521, BM825705, BQ028933, BX648599, X03663
    Consensus CDS
    CCDS4302.1
    UniProtKB/Swiss-Prot
    P07333
    Related
    ENSP00000286301.3, ENST00000286301.7
    Conserved Domains (5) summary
    cd05106
    Location:543914
    PTKc_CSF-1R; Catalytic domain of the Protein Tyrosine Kinase, Colony-Stimulating Factor-1 Receptor
    smart00410
    Location:2885
    IG_like; Immunoglobulin like
    pfam00047
    Location:207293
    ig; Immunoglobulin domain
    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

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 4, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AB208819, AC011382, AI863331, BM562096, CD620053, DR001419, M14193
    Related
    ENST00000504875.5
  2. NR_164679.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC011382

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

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