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

    Gene ID: 1436, updated on 5-Nov-2017
    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; 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. 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
    Location:
    5q32
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 ribosomal protein L7 pseudogene 1 Neighboring gene platelet derived growth factor receptor beta Neighboring gene caudal type homeobox 1

    • 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 Jun 15 11:32:44 2016

    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

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    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 
    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
     
    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 
    forebrain neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    monocyte differentiation TAS
    Traceable Author Statement
    more info
    PubMed 
    multicellular organism development TAS
    Traceable Author Statement
    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 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 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 
    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
    CSF1-CSF1R complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    cell surface ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    integral component of plasma membrane TAS
    Traceable Author Statement
    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
     
    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_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 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001288705.2NP_001275634.1  macrophage colony-stimulating factor 1 receptor precursor

      See identical proteins and their annotated locations for NP_001275634.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 4. Variants 1, 2 and 4 encode the same protein.
      Source sequence(s)
      AC011382, AI863331
      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 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) encodes the longest transcript. Variants 1, 2 and 4 encode the same protein. The promoter and 5' terminal exon sequence for this variant are from a long terminal repeat (LTR). (PMID: 20436485)
      Source sequence(s)
      AC011382, BQ028933
      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_005211.3NP_005202.2  macrophage colony-stimulating factor 1 receptor 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 and 4 encode the same protein.
      Source sequence(s)
      BC047521, BM825705, BQ028933, BX648599, X03663
      Consensus CDS
      CCDS4302.1
      UniProtKB/Swiss-Prot
      P07333
      Related
      ENSP00000286301.3, OTTHUMP00000160525, ENST00000286301.7, OTTHUMT00000252329
      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, OTTHUMT00000373776

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

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