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

Gene ID: 1436, updated on 18-Sep-2024

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; AllianceGenome:HGNC:2433
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; GPSC; HDLS; C-FMS; CD115; HDLS1; 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
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Genomic context

See CSF1R in Genome Data Viewer
Location:
5q32
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (150053295..150113365, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (150589842..150649957, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (149432858..149492928, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene HMG-box containing 3 Neighboring gene small nucleolar RNA U13 Neighboring gene ribosomal protein S20 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23395 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23396 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:149439174-149439376 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:149444398-149444573 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23397 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149447500-149448210 Neighboring gene RORalpha allelically-responsive CSF1R enhancer Neighboring gene CSF1R promoter/intronic regulatory region Neighboring gene LTR-CSF1R promoter Neighboring gene ribosomal protein L7 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 12786 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149490949-149491461 Neighboring gene CSF1R promoter E1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149497723-149498310 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149499971-149500878 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149507353-149507854 Neighboring gene platelet derived growth factor receptor beta Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149509491-149510101 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82275 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149515109-149515620 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149515621-149516130 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149516131-149516642 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149517153-149517664 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149526270-149526796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149532128-149532648 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149532649-149533168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149537326-149538114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23399 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149540489-149541398 Neighboring gene caudal type homeobox 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables cytokine binding IDA
Inferred from Direct Assay
more info
PubMed 
enables cytokine binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
enables growth factor binding IBA
Inferred from Biological aspect of Ancestor
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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables macrophage colony-stimulating factor receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
enables protein phosphatase binding IEA
Inferred from Electronic Annotation
more info
 
enables protein tyrosine kinase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
involved_in axon guidance IEA
Inferred from Electronic Annotation
more info
 
involved_in cell population proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cell-cell junction maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cellular response to cytokine stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular response to macrophage colony-stimulating factor stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cytokine-mediated signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in forebrain neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in hemopoiesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in inflammatory response TAS
Traceable Author Statement
more info
PubMed 
involved_in innate immune response IEA
Inferred from Electronic Annotation
more info
 
involved_in macrophage colony-stimulating factor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in macrophage differentiation TAS
Traceable Author Statement
more info
PubMed 
involved_in mammary gland duct morphogenesis TAS
Traceable Author Statement
more info
PubMed 
involved_in microglial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in monocyte differentiation TAS
Traceable Author Statement
more info
PubMed 
involved_in multicellular organism development IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of cell population proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in olfactory bulb development IEA
Inferred from Electronic Annotation
more info
 
involved_in osteoclast differentiation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in osteoclast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in peptidyl-tyrosine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation by host of viral process IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of ERK1 and ERK2 cascade ISS
Inferred from Sequence or Structural Similarity
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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of cell population proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of chemokine production IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of positive regulation of macrophage chemotaxis IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of positive regulation of macrophage proliferation IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of protein tyrosine kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of tyrosine phosphorylation of STAT protein ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein autophosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of MAPK cascade IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in regulation of actin cytoskeleton organization ISS
Inferred from Sequence or Structural Similarity
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 macrophage migration ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in response to ischemia ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in ruffle organization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
part_of CSF1-CSF1R complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of CSF1-CSF1R complex ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in cell surface ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
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
 
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

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)

NEW Try the new Transcript table

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
    31819..65078
    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
    B5A955, D3DQG2, P07333, Q6LDW5, Q6LDY4, Q86VW7
    Related
    ENSP00000501699.1, ENST00000675795.1
    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
    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
    pfam00047
    Location:207293
    ig; Immunoglobulin domain
  2. NM_001349736.2NP_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
    UniProtKB/Swiss-Prot
    B5A955, D3DQG2, P07333, Q6LDW5, Q6LDY4, Q86VW7
    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
    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
    pfam00047
    Location:207293
    ig; Immunoglobulin domain
  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
    Consensus CDS
    CCDS4302.1
    UniProtKB/Swiss-Prot
    B5A955, D3DQG2, P07333, Q6LDW5, Q6LDY4, Q86VW7
    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
    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
    pfam00047
    Location:207293
    ig; Immunoglobulin domain
  4. NM_001375321.1NP_001362250.1  macrophage colony-stimulating factor 1 receptor isoform b

    Status: REVIEWED

    Source sequence(s)
    AC011382
    Conserved Domains (4) summary
    cd05106
    Location:395766
    PTKc_CSF-1R; Catalytic domain of the Protein Tyrosine Kinase, Colony-Stimulating Factor-1 Receptor
    smart00408
    Location:69137
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:253347
    IG_like; Immunoglobulin like
    cd00096
    Location:113117
    Ig; Ig strand E [structural motif]
  5. NM_005211.4NP_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
    B5A955, D3DQG2, P07333, Q6LDW5, Q6LDY4, Q86VW7
    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
    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
    pfam00047
    Location:207293
    ig; Immunoglobulin domain

RNA

  1. NR_109969.2 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, AI863331, BM562096, CD620053, DR001419, M14193
    Related
    ENST00000504875.5
  2. NR_164679.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC011382

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    150053295..150113365 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    150589842..150649957 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)