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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes CD markers Disease related genes Enzymes FDA approved drug targets Human disease related genes Plasma proteins RAS pathway related proteins Transporters
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
5
Cytoband
q32
Chromosome location (bp)
150053291 - 150113372
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Tyrosine-protein kinase that acts as cell-surface receptor for CSF1 and IL34 and plays an essential role in the regulation of survival, proliferation and differentiation of hematopoietic precursor cells, especially mononuclear phagocytes, such as macrophages and monocytes. Promotes the release of pro-inflammatory chemokines in response to IL34 and CSF1, and thereby plays an important role in innate immunity and in inflammatory processes. Plays an important role in the regulation of osteoclast proliferation and differentiation, the regulation of bone resorption, and is required for normal bone and tooth development. Required for normal male and female fertility, and for normal development of milk ducts and acinar structures in the mammary gland during pregnancy. Promotes reorganization of the actin cytoskeleton, regulates formation of membrane ruffles, cell adhesion and cell migration, and promotes cancer cell invasion. Activates several signaling pathways in response to ligand binding, including the ERK1/2 and the JNK pathway 1,2. Phosphorylates PIK3R1, PLCG2, GRB2, SLA2 and CBL. Activation of PLCG2 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate, that then lead to the activation of protein kinase C family members, especially PRKCD. Phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, leads to activation of the AKT1 signaling pathway. Activated CSF1R also mediates activation of the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1, and of the SRC family kinases SRC, FYN and YES1. Activated CSF1R transmits signals both via proteins that directly interact with phosphorylated tyrosine residues in its intracellular domain, or via adapter proteins, such as GRB2. Promotes activation of STAT family members STAT3, STAT5A and/or STAT5B. Promotes tyrosine phosphorylation of SHC1 and INPP5D/SHIP-1. Receptor signaling is down-regulated by protein phosphatases, such as INPP5D/SHIP-1, that dephosphorylate the receptor and its downstream effectors, and by rapid internalization of the activated receptor. In the central nervous system, may play a role in the development of microglia macrophages 3....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Immunity, Inflammatory response, Innate immunity
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
ATP-binding, Nucleotide-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Enzymes ENZYME proteins Transferases Kinases Tyr protein kinases CD markers Transporters Accessory Factors Involved in Transport Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Plasma proteins RAS pathway related proteins Cancer-related genes Candidate cancer biomarkers Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Cancers Cancers of the breast and female genital organs Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000166[nucleotide binding] GO:0001934[positive regulation of protein phosphorylation] GO:0002244[hematopoietic progenitor cell differentiation] GO:0002376[immune system process] GO:0002931[response to ischemia] GO:0004672[protein kinase activity] GO:0004713[protein tyrosine kinase activity] GO:0004714[transmembrane receptor protein tyrosine kinase activity] GO:0005011[macrophage colony-stimulating factor receptor activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005654[nucleoplasm] GO:0005886[plasma membrane] GO:0006468[protein phosphorylation] GO:0006954[inflammatory response] GO:0007165[signal transduction] GO:0007169[transmembrane receptor protein tyrosine kinase signaling pathway] GO:0008283[cell population proliferation] GO:0008284[positive regulation of cell population proliferation] GO:0008360[regulation of cell shape] GO:0009986[cell surface] GO:0010759[positive regulation of macrophage chemotaxis] GO:0016020[membrane] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0018108[peptidyl-tyrosine phosphorylation] GO:0019221[cytokine-mediated signaling pathway] GO:0019955[cytokine binding] GO:0030097[hemopoiesis] GO:0030224[monocyte differentiation] GO:0030225[macrophage differentiation] GO:0030316[osteoclast differentiation] GO:0030335[positive regulation of cell migration] GO:0031401[positive regulation of protein modification process] GO:0031529[ruffle organization] GO:0032722[positive regulation of chemokine production] GO:0033674[positive regulation of kinase activity] GO:0036006[cellular response to macrophage colony-stimulating factor stimulus] GO:0038145[macrophage colony-stimulating factor signaling pathway] GO:0042127[regulation of cell population proliferation] GO:0042531[positive regulation of tyrosine phosphorylation of STAT protein] GO:0042803[protein homodimerization activity] GO:0043231[intracellular membrane-bounded organelle] GO:0043235[receptor complex] GO:0043408[regulation of MAPK cascade] GO:0045087[innate immune response] GO:0045124[regulation of bone resorption] GO:0045217[cell-cell junction maintenance] GO:0046488[phosphatidylinositol metabolic process] GO:0046777[protein autophosphorylation] GO:0048015[phosphatidylinositol-mediated signaling] GO:0048584[positive regulation of response to stimulus] GO:0051716[cellular response to stimulus] GO:0060603[mammary gland duct morphogenesis] GO:0061098[positive regulation of protein tyrosine kinase activity] GO:0070374[positive regulation of ERK1 and ERK2 cascade] GO:0071345[cellular response to cytokine stimulus] GO:0071902[positive regulation of protein serine/threonine kinase activity] GO:0120041[positive regulation of macrophage proliferation] GO:1990682[CSF1-CSF1R complex] GO:2000147[positive regulation of cell motility] GO:2000249[regulation of actin cytoskeleton reorganization]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Human disease related genes Cancers Cancers of the breast and female genital organs Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Transferases Kinases Tyr protein kinases CD markers Transporters Accessory Factors Involved in Transport Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Plasma proteins RAS pathway related proteins Cancer-related genes Candidate cancer biomarkers Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Cancers Cancers of the breast and female genital organs Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000166[nucleotide binding] GO:0001934[positive regulation of protein phosphorylation] GO:0002244[hematopoietic progenitor cell differentiation] GO:0002376[immune system process] GO:0002931[response to ischemia] GO:0004672[protein kinase activity] GO:0004713[protein tyrosine kinase activity] GO:0004714[transmembrane receptor protein tyrosine kinase activity] GO:0005011[macrophage colony-stimulating factor receptor activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005654[nucleoplasm] GO:0005886[plasma membrane] GO:0006468[protein phosphorylation] GO:0006954[inflammatory response] GO:0007165[signal transduction] GO:0007169[transmembrane receptor protein tyrosine kinase signaling pathway] GO:0008283[cell population proliferation] GO:0008284[positive regulation of cell population proliferation] GO:0008360[regulation of cell shape] GO:0009986[cell surface] GO:0010759[positive regulation of macrophage chemotaxis] GO:0016020[membrane] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0018108[peptidyl-tyrosine phosphorylation] GO:0019221[cytokine-mediated signaling pathway] GO:0019955[cytokine binding] GO:0030097[hemopoiesis] GO:0030224[monocyte differentiation] GO:0030225[macrophage differentiation] GO:0030316[osteoclast differentiation] GO:0030335[positive regulation of cell migration] GO:0031401[positive regulation of protein modification process] GO:0031529[ruffle organization] GO:0032722[positive regulation of chemokine production] GO:0033674[positive regulation of kinase activity] GO:0036006[cellular response to macrophage colony-stimulating factor stimulus] GO:0038145[macrophage colony-stimulating factor signaling pathway] GO:0042127[regulation of cell population proliferation] GO:0042531[positive regulation of tyrosine phosphorylation of STAT protein] GO:0042803[protein homodimerization activity] GO:0043231[intracellular membrane-bounded organelle] GO:0043235[receptor complex] GO:0043408[regulation of MAPK cascade] GO:0045087[innate immune response] GO:0045124[regulation of bone resorption] GO:0045217[cell-cell junction maintenance] GO:0046488[phosphatidylinositol metabolic process] GO:0046777[protein autophosphorylation] GO:0048015[phosphatidylinositol-mediated signaling] GO:0048584[positive regulation of response to stimulus] GO:0051716[cellular response to stimulus] GO:0060603[mammary gland duct morphogenesis] GO:0061098[positive regulation of protein tyrosine kinase activity] GO:0070374[positive regulation of ERK1 and ERK2 cascade] GO:0071345[cellular response to cytokine stimulus] GO:0071902[positive regulation of protein serine/threonine kinase activity] GO:0120041[positive regulation of macrophage proliferation] GO:1990682[CSF1-CSF1R complex] GO:2000147[positive regulation of cell motility] GO:2000249[regulation of actin cytoskeleton reorganization]
Enzymes ENZYME proteins Transferases Kinases Tyr protein kinases CD markers Transporters Accessory Factors Involved in Transport Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Plasma proteins RAS pathway related proteins Cancer-related genes Candidate cancer biomarkers Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Cancers Cancers of the breast and female genital organs Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000166[nucleotide binding] GO:0001934[positive regulation of protein phosphorylation] GO:0002244[hematopoietic progenitor cell differentiation] GO:0002376[immune system process] GO:0002931[response to ischemia] GO:0004672[protein kinase activity] GO:0004713[protein tyrosine kinase activity] GO:0004714[transmembrane receptor protein tyrosine kinase activity] GO:0005011[macrophage colony-stimulating factor receptor activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005654[nucleoplasm] GO:0005886[plasma membrane] GO:0006468[protein phosphorylation] GO:0006954[inflammatory response] GO:0007165[signal transduction] GO:0007169[transmembrane receptor protein tyrosine kinase signaling pathway] GO:0007411[axon guidance] GO:0008283[cell population proliferation] GO:0008284[positive regulation of cell population proliferation] GO:0008285[negative regulation of cell population proliferation] GO:0008360[regulation of cell shape] GO:0009986[cell surface] GO:0010759[positive regulation of macrophage chemotaxis] GO:0016020[membrane] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0018108[peptidyl-tyrosine phosphorylation] GO:0019221[cytokine-mediated signaling pathway] GO:0019903[protein phosphatase binding] GO:0019955[cytokine binding] GO:0021772[olfactory bulb development] GO:0021879[forebrain neuron differentiation] GO:0030097[hemopoiesis] GO:0030224[monocyte differentiation] GO:0030225[macrophage differentiation] GO:0030316[osteoclast differentiation] GO:0030335[positive regulation of cell migration] GO:0031401[positive regulation of protein modification process] GO:0031529[ruffle organization] GO:0032722[positive regulation of chemokine production] GO:0033674[positive regulation of kinase activity] GO:0036006[cellular response to macrophage colony-stimulating factor stimulus] GO:0038145[macrophage colony-stimulating factor signaling pathway] GO:0042127[regulation of cell population proliferation] GO:0042531[positive regulation of tyrosine phosphorylation of STAT protein] GO:0042803[protein homodimerization activity] GO:0043066[negative regulation of apoptotic process] GO:0043231[intracellular membrane-bounded organelle] GO:0043235[receptor complex] GO:0043408[regulation of MAPK cascade] GO:0044794[positive regulation by host of viral process] GO:0045087[innate immune response] GO:0045124[regulation of bone resorption] GO:0045217[cell-cell junction maintenance] GO:0046488[phosphatidylinositol metabolic process] GO:0046777[protein autophosphorylation] GO:0048015[phosphatidylinositol-mediated signaling] GO:0048584[positive regulation of response to stimulus] GO:0051716[cellular response to stimulus] GO:0060603[mammary gland duct morphogenesis] GO:0061098[positive regulation of protein tyrosine kinase activity] GO:0061518[microglial cell proliferation] GO:0070374[positive regulation of ERK1 and ERK2 cascade] GO:0071345[cellular response to cytokine stimulus] GO:0071902[positive regulation of protein serine/threonine kinase activity] GO:0120041[positive regulation of macrophage proliferation] GO:1990682[CSF1-CSF1R complex] GO:2000147[positive regulation of cell motility] GO:2000249[regulation of actin cytoskeleton reorganization]
The Human Protein Atlas project is funded
