CSF1R
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| colony stimulating factor 1 receptor | MIM:164770 | Ensembl:ENSG00000182578 | HGNC:HGNC:2433 | PA26936 | 5q32 |
GO terms in CSF1R
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IMP | GO:0001934 | positive regulation of protein phosphorylation |
| BP | TAS | GO:0006954 | inflammatory response |
| BP | TAS | GO:0007165 | signal transduction |
| BP | ISS | GO:0007169 | transmembrane receptor protein tyrosine kinase signaling pathway |
| BP | IBA | GO:0007275 | multicellular organism development |
| BP | TAS | GO:0007275 | multicellular organism development |
| BP | IEA | GO:0007411 | axon guidance |
| BP | IMP | GO:0008283 | cell proliferation |
| BP | IMP | GO:0008284 | positive regulation of cell proliferation |
| BP | IEA | GO:0008285 | negative regulation of cell proliferation |
| BP | IMP | GO:0008360 | regulation of cell shape |
| BP | IBA | GO:0009968 | negative regulation of signal transduction |
| BP | IDA | GO:0018108 | peptidyl-tyrosine phosphorylation |
| BP | IMP | GO:0019221 | cytokine-mediated signaling pathway |
| BP | TAS | GO:0019221 | cytokine-mediated signaling pathway |
| BP | IEA | GO:0021772 | olfactory bulb development |
| BP | IEA | GO:0021879 | forebrain neuron differentiation |
| BP | IMP | GO:0030097 | hemopoiesis |
| BP | IBA | GO:0030154 | cell differentiation |
| BP | TAS | GO:0030224 | monocyte differentiation |
| BP | TAS | GO:0030225 | macrophage differentiation |
| BP | ISS | GO:0030316 | osteoclast differentiation |
| BP | ISS | GO:0030335 | positive regulation of cell migration |
| BP | ISS | GO:0031529 | ruffle organization |
| BP | IBA | GO:0033674 | positive regulation of kinase activity |
| BP | IBA | GO:0036006 | cellular response to macrophage colony-stimulating factor stimulus |
| BP | IMP | GO:0036006 | cellular response to macrophage colony-stimulating factor stimulus |
| BP | ISS | GO:0038145 | macrophage colony-stimulating factor signaling pathway |
| BP | ISS | GO:0042531 | positive regulation of tyrosine phosphorylation of STAT protein |
| BP | IBA | GO:0043066 | negative regulation of apoptotic process |
| BP | IEA | GO:0043066 | negative regulation of apoptotic process |
| BP | IBA | GO:0043410 | positive regulation of MAPK cascade |
| BP | IEA | GO:0045087 | innate immune response |
| BP | ISS | GO:0045124 | regulation of bone resorption |
| BP | IMP | GO:0045217 | cell-cell junction maintenance |
| BP | ISS | GO:0046488 | phosphatidylinositol metabolic process |
| BP | IDA | GO:0046777 | protein autophosphorylation |
| BP | ISS | GO:0048015 | phosphatidylinositol-mediated signaling |
| BP | TAS | GO:0060603 | mammary gland duct morphogenesis |
| BP | IMP | GO:0061098 | positive regulation of protein tyrosine kinase activity |
| BP | IBA | GO:0070374 | positive regulation of ERK1 and ERK2 cascade |
| BP | ISS | GO:0070374 | positive regulation of ERK1 and ERK2 cascade |
| BP | ISS | GO:0071345 | cellular response to cytokine stimulus |
| BP | ISS | GO:0071902 | positive regulation of protein serine/threonine kinase activity |
| BP | IMP | GO:0090197 | positive regulation of chemokine secretion |
| BP | IMP | GO:2000147 | positive regulation of cell motility |
| BP | ISS | GO:2000249 | regulation of actin cytoskeleton reorganization |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | IBA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IBA | GO:0005887 | integral component of plasma membrane |
| CC | TAS | GO:0005887 | integral component of plasma membrane |
| CC | ISS | GO:0009986 | cell surface |
| CC | IDA | GO:0043231 | intracellular membrane-bounded organelle |
| CC | IBA | GO:0043235 | receptor complex |
| CC | IBA | GO:1990682 | CSF1-CSF1R complex |
| CC | ISS | GO:1990682 | CSF1-CSF1R complex |
| MF | IBA | GO:0004709 | MAP kinase kinase kinase activity |
| MF | IBA | GO:0004713 | protein tyrosine kinase activity |
| MF | IBA | GO:0004714 | transmembrane receptor protein tyrosine kinase activity |
| MF | IBA | GO:0004888 | transmembrane signaling receptor activity |
| MF | IMP | GO:0005011 | macrophage colony-stimulating factor receptor activity |
| MF | ISS | GO:0005011 | macrophage colony-stimulating factor receptor activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005524 | ATP binding |
| MF | IBA | GO:0019838 | growth factor binding |
| MF | IEA | GO:0019903 | protein phosphatase binding |
| MF | IDA | GO:0019955 | cytokine binding |
| MF | ISS | GO:0019955 | cytokine binding |
| MF | IBA | GO:0031434 | mitogen-activated protein kinase kinase binding |
| MF | ISS | GO:0042803 | protein homodimerization activity |
Gene expression in normal tissue: CSF1R
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CSF1R
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1280215 | Cytokine Signaling in Immune system |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-449147 | Signaling by Interleukins |
| reactome | R-HSA-449836 | Other interleukin signaling |
| biocarta | etspathway | mets affect on macrophage differentiation |
| pid | avb3_integrin_pathway | Integrins in angiogenesis |
| pid | cmyb_pathway | C-MYB transcription factor network |
| pid | ptp1bpathway | Signaling events mediated by PTP1B |
| pid | tcptp_pathway | Signaling events mediated by TCPTP |
| kegg | hsa04010 | MAPK signaling pathway - Homo sapiens (human) |
| kegg | hsa04014 | Ras signaling pathway - Homo sapiens (human) |
| kegg | hsa04015 | Rap1 signaling pathway - Homo sapiens (human) |
| kegg | hsa04060 | Cytokine-cytokine receptor interaction - Homo sapiens (human) |
| kegg | hsa04151 | PI3K-Akt signaling pathway - Homo sapiens (human) |
| kegg | hsa04380 | Osteoclast differentiation - Homo sapiens (human) |
| kegg | hsa04640 | Hematopoietic cell lineage - Homo sapiens (human) |
| kegg | hsa05200 | Pathways in cancer - Homo sapiens (human) |
| kegg | hsa05202 | Transcriptional misregulation in cancer - Homo sapiens (human) |
| kegg | hsa05221 | Acute myeloid leukemia - Homo sapiens (human) |
| wikipathways | WP2848 | Differentiation Pathway |
| wikipathways | WP3640 | Imatinib and Chronic Myeloid Leukemia |
| wikipathways | WP3932 | Focal Adhesion-PI3K-Akt-mTOR-signaling pathway |
| wikipathways | WP4172 | PI3K-Akt Signaling Pathway |
| wikipathways | WP4223 | Ras Signaling |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD300 | Tozasertib | 6 |
| iGMDRD147 | Prima-1 | 3 |
| iGMDRD246 | NPC26 | 3 |
| iGMDRD871 | BRD6368 | 3 |
| iGMDRD872 | BRD7137 | 3 |
| iGMDRD269 | Purmorphamine | 1 |
| iGMDRD434 | BMS-536924 | 3 |
| iGMDRD192 | CIL56 | 3 |
| iGMDRD267 | Oligomycin A | 1 |
| iGMDRD103 | SN-38 | 3 |
| iGMDRD123 | Isoevodiamine | 3 |
| iGMDRD341 | Triacsin c | 6 |
| iGMDRD351 | GW843682X | 3 |
| iGMDRD424 | Tamatinib | 3 |
| iGMDRD701 | NVP-AUY922 | 6 |
| iGMDRD512 | nutlin 3 | 3 |
| iGMDRD690 | PRIMA-1MET | 3 |
| iGMDRD60 | Quinoclamine | 6 |
| iGMDRD23 | Gossypol | 6 |
| iGMDRD41 | Imatinib | 2 |
| iGMDRD451 | Serdemetan | 3 |
| iGMDRD188 | Piperlongumine | 6 |
| iGMDRD577 | BIX01294 | 2 |
| iGMDRD398 | Sepantronium | 3 |
| iGMDRD562 | Navitoclax | 2 |
| iGMDRD318 | PAC-1 | 3 |
| iGMDRD513 | BML-259 | 1 |
| iGMDRD474 | Avrainvillamide | 6 |
| iGMDRD61 | Kinetin riboside | 6 |
| iGMDRD144 | NSC95397 | 3 |
| iGMDRD781 | Sirolimus | 9 |
| iGMDRD889 | Compound 7d-cis | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CSF1R
CLASSFICATION
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