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

    Gene ID: 1436, updated on 29-Oct-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
    NEW
    Try the new Gene table
    Try the new Transcript table

    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)