ENSG00000182578


Homo sapiens

Features
Gene ID: ENSG00000182578
  
Biological name :CSF1R
  
Synonyms : colony stimulating factor 1 receptor / CSF1R / P07333
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: -1
Band: q32
Gene start: 150053291
Gene end: 150113372
  
Corresponding Affymetrix probe sets: 203104_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000421174
Ensembl peptide - ENSP00000445282
Ensembl peptide - ENSP00000427545
Ensembl peptide - ENSP00000422212
Ensembl peptide - ENSP00000286301
NCBI entrez gene - 1436     See in Manteia.
OMIM - 164770
RefSeq - NM_001288705
RefSeq - NM_001349736
RefSeq - NM_005211
RefSeq Peptide - NP_001336665
RefSeq Peptide - NP_005202
RefSeq Peptide - NP_001275634
swissprot - P07333
swissprot - D6RGW1
swissprot - H0YAL5
swissprot - E9PEK4
Ensembl - ENSG00000182578
  
Related genetic diseases (OMIM): 221820 - Leukoencephalopathy, diffuse hereditary, with spheroids, 221820
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 csf1raENSDARG00000102986Danio rerio
 csf1rbENSDARG00000053624Danio rerio
 CSF1RENSGALG00000005725Gallus gallus
 Csf1rENSMUSG00000024621Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
KIT / P10721 / KIT proto-oncogene receptor tyrosine kinaseENSG0000015740440
P09619 / PDGFRB / platelet derived growth factor receptor betaENSG0000011372134
P16234 / PDGFRA / platelet derived growth factor receptor alphaENSG0000013485333
FLT3 / P36888 / fms related tyrosine kinase 3ENSG0000012202531
KDR / P35968 / kinase insert domain receptorENSG0000012805230
FLT4 / P35916 / fms related tyrosine kinase 4ENSG0000003728029
FLT1 / P17948 / fms related tyrosine kinase 1ENSG0000010275529
FGFR1 / P11362 / fibroblast growth factor receptor 1ENSG0000007778223
FGFR3 / P22607 / fibroblast growth factor receptor 3ENSG0000006807823
RET / P07949 / ret proto-oncogeneENSG0000016573123
FGFR2 / P21802 / fibroblast growth factor receptor 2ENSG0000006646823
FGFR4 / P22455 / fibroblast growth factor receptor 4ENSG0000016086723


Protein motifs (from Interpro)
Interpro ID Name
 IPR000719  Protein kinase domain
 IPR001245  Serine-threonine/tyrosine-protein kinase, catalytic domain
 IPR001824  Tyrosine-protein kinase, receptor class III, conserved site
 IPR003598  Immunoglobulin subtype 2
 IPR003599  Immunoglobulin subtype
 IPR007110  Immunoglobulin-like domain
 IPR008266  Tyrosine-protein kinase, active site
 IPR011009  Protein kinase-like domain superfamily
 IPR013151  Immunoglobulin
 IPR013783  Immunoglobulin-like fold
 IPR017441  Protein kinase, ATP binding site
 IPR020635  Tyrosine-protein kinase, catalytic domain
 IPR030658  Macrophage colony-stimulating factor 1 receptor
 IPR036179  Immunoglobulin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001934 positive regulation of protein phosphorylation IMP
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0006954 inflammatory response TAS
 biological_processGO:0007165 signal transduction TAS
 biological_processGO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway ISS
 biological_processGO:0007275 multicellular organism development TAS
 biological_processGO:0007411 axon guidance IEA
 biological_processGO:0008283 cell proliferation TAS
 biological_processGO:0008284 positive regulation of cell proliferation IMP
 biological_processGO:0008285 negative regulation of cell proliferation IEA
 biological_processGO:0008360 regulation of cell shape IMP
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0018108 peptidyl-tyrosine phosphorylation IDA
 biological_processGO:0019221 cytokine-mediated signaling pathway IMP
 biological_processGO:0021772 olfactory bulb development IEA
 biological_processGO:0021879 forebrain neuron differentiation IEA
 biological_processGO:0030097 hemopoiesis IMP
 biological_processGO:0030224 monocyte differentiation TAS
 biological_processGO:0030225 macrophage differentiation TAS
 biological_processGO:0030316 osteoclast differentiation ISS
 biological_processGO:0030335 positive regulation of cell migration ISS
 biological_processGO:0031529 ruffle organization ISS
 biological_processGO:0036006 cellular response to macrophage colony-stimulating factor stimulus IMP
 biological_processGO:0038145 macrophage colony-stimulating factor signaling pathway ISS
 biological_processGO:0042531 positive regulation of tyrosine phosphorylation of STAT protein ISS
 biological_processGO:0043066 negative regulation of apoptotic process IEA
 biological_processGO:0045087 innate immune response IEA
 biological_processGO:0045124 regulation of bone resorption ISS
 biological_processGO:0045217 cell-cell junction maintenance IMP
 biological_processGO:0046488 phosphatidylinositol metabolic process ISS
 biological_processGO:0046777 protein autophosphorylation IDA
 biological_processGO:0048015 phosphatidylinositol-mediated signaling ISS
 biological_processGO:0060603 mammary gland duct morphogenesis TAS
 biological_processGO:0061098 positive regulation of protein tyrosine kinase activity IMP
 biological_processGO:0070374 positive regulation of ERK1 and ERK2 cascade ISS
 biological_processGO:0071345 cellular response to cytokine stimulus ISS
 biological_processGO:0071902 positive regulation of protein serine/threonine kinase activity ISS
 biological_processGO:0090197 positive regulation of chemokine secretion IMP
 biological_processGO:2000147 positive regulation of cell motility IMP
 biological_processGO:2000249 regulation of actin cytoskeleton reorganization ISS
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0009986 cell surface ISS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 cellular_componentGO:1990682 CSF1-CSF1R complex ISS
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004672 protein kinase activity IEA
 molecular_functionGO:0004713 protein tyrosine kinase activity IEA
 molecular_functionGO:0004714 transmembrane receptor protein tyrosine kinase activity IEA
 molecular_functionGO:0005011 macrophage colony-stimulating factor receptor activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0019903 protein phosphatase binding IEA
 molecular_functionGO:0019955 cytokine binding ISS
 molecular_functionGO:0042803 protein homodimerization activity ISS


Pathways (from Reactome)
Pathway description
Other interleukin signaling


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000716 Depression "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators]
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 HP:0000727 Frontal lobe dementia 
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 HP:0001257 Spasticity "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators]
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 HP:0001347 Hyperreflexia "The presence of overactive or overresponsive reflexes." [HPO:curators]
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 HP:0002063 Rigidity 
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 HP:0002067 Bradykinesia "Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement)." [HPO:curators]
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 HP:0002171 Gliosis 
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 HP:0002172 Postural instability 
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 HP:0002186 Apraxia "A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements." [HPO:curators]
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 HP:0002300 Mutism 
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 HP:0002352 Leukoencephalopathy 
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 HP:0002354 Memory impairment 
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 HP:0002362 Shuffling gait 
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 HP:0002500 Abnormality of the cerebral white matter 
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 HP:0002529 Neuropathology shows neuronal loss in basal ganglia, brainstem, and cerebellum 
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 HP:0003581 Onset in adulthood 
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 HP:0003678 Rapidly progressive 
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 HP:0007305 Cns demyelination 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000115884 SDC1 / P18827 / syndecan 1  / complex
 ENSG00000157368 IL34 / Q6ZMJ4 / interleukin 34  / reaction / complex
 ENSG00000184371 CSF1 / P09603 / colony stimulating factor 1  / complex






 

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