Entity Details

Primary name CSF1R
Entity type gene
Source Source Link

Details

PrimaryID1436
RefseqGeneNG_012303
SymbolCSF1R
Namecolony stimulating factor 1 receptor
Chromosome5
Location5q32
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-06
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCSF1R_HUMAN

GO terms

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GOName
GO:0001934 positive regulation of protein phosphorylation
GO:0002244 hematopoietic progenitor cell differentiation
GO:0002931 response to ischemia
GO:0004713 protein tyrosine kinase activity
GO:0004714 transmembrane receptor protein tyrosine kinase activity
GO:0005011 macrophage colony-stimulating factor receptor activity
GO:0005524 ATP binding
GO:0005654 nucleoplasm
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006954 inflammatory response
GO:0007165 signal transduction
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway
GO:0007275 multicellular organism development
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: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: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: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: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:0060260 regulation of transcription initiation from RNA polymerase II promoter
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

Diseases

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Disease IDSourceNameDescription
221820 OMIMLeukoencephalopathy, diffuse hereditary, with spheroids (HDLS)An autosomal dominant adult-onset rapidly progressive neurodegenerative disorder characterized by variable behavioral, cognitive, and motor changes. Patients often die of dementia within 6 years of onset. Brain imaging shows patchy abnormalities in the cerebral white matter, predominantly affecting the frontal and parietal lobes. The disease is caused by variants affecting the gene represented in this entry.
618476 OMIMBrain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS)An autosomal recessive disease with variable manifestations. Main features are brain malformations with calcifying leukoencephalopathy, progressive neurodegeneration, and bone sclerotic features. The age at onset ranges from infancy to early adulthood. Neurologic features include loss of previous motor and language skills, cognitive impairment, spasticity, and focal seizures. Brain imaging shows periventricular white matter abnormalities and calcifications, large cisterna magna or Dandy-Walker malformation, and sometimes agenesis of the corpus callosum. The disease is caused by variants affecting the gene represented in this entry.

Interactions

33 interactions

InteractorPartnerSourcesPublicationsLink
CSF1RFYNBioGRID, HPRD, MINT7681396 details
CSF1RGRAP2BioGRID, HPRD, IntAct25241761 9857184 details
CSF1RCSF1RBioGRID, DIP, HPRD10022833 11297560 1833648 22153499 9380408 details
CSF1RCSF1BioGRID, DIP, HPRD22153499 22483114 22902366 2408759 26235028 8355686 details
CSF1RIL34DIP22483114 23478061 details
CSF1RCTDSP2BioGRID, MINT28065597 details
CSF1RCTDSP1BioGRID, MINT28065597 details
CSF1RGRB2BioGRID, HPRD10025673 7597091 8262059 9178909 9380408 details
CSF1RSOCS1BioGRID, HPRD10022833 11297560 29991678 details
CSF1RCBLBioGRID, HPRD10025673 10648820 11847211 11850825 7782294 details
CSF1RSTAP2BioGRID17512498 details
CSF1RPIK3R2BioGRID, HPRD1334406 details
CSF1RKITBioGRID9949175 details
CSF1RPIK3CABioGRID9380408 details
CSF1RLAMC2BioGRID18593464 details
CSF1RINPP5DHPRD15735664 details
CSF1RINPPL1HPRD15735664 details
CSF1RTHOC5HPRD10597251 details
CSF1RHSP90AB1IntAct22939624 details
CSF1RPIK3R1BioGRID, HPRD, IntAct10025673 25241761 8947469 details
CSF1RSRCBioGRID7681396 details
CSF1RYES1BioGRID, HPRD7681396 details
CSF1RSOCS3BioGRID, HPRD12133942 details
CSF1RLYNBioGRID, HPRD7636265 details
CSF1RSOS1BioGRID, HPRD10025673 7520523 details
CSF1RSHC1BioGRID, HPRD10025673 7520523 details
CSF1RITGAVBioGRID16600665 details
CSF1RHSP90AA1BioGRID22939624 details
CSF1RPDCL3BioGRID23792958 details
CSF1RRASA1HPRD2172781 details
CSF1RPKMIntAct24606918 details
CSF1RPAN2BioGRID23398456 details
CSF1RVIRMABioGRID29507755 details