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Protein

Macrophage colony-stimulating factor 1 receptor

Gene

CSF1R

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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 proinflammatory 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. 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.14 Publications

Catalytic activityi

ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.PROSITE-ProRule annotation6 Publications

Activity regulationi

Present in an inactive conformation in the absence of bound ligand. CSF1 or IL34 binding leads to dimerization and activation by autophosphorylation on tyrosine residues. Inhibited by imatinib/STI-571 (Gleevec), dasatinib, sunitinib/SU11248, lestaurtinib/CEP-701, midostaurin/PKC-412, Ki20227, linifanib/ABT-869, Axitinib/AG013736, sorafenib/BAY 43-9006 and GW2580.7 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei616ATPCurated1
Active sitei778Proton acceptorPROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi588 – 596ATPPROSITE-ProRule annotation9

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • cytokine binding Source: UniProtKB
  • macrophage colony-stimulating factor receptor activity Source: UniProtKB
  • protein homodimerization activity Source: BHF-UCL
  • protein phosphatase binding Source: Ensembl

GO - Biological processi

Keywordsi

Molecular functionKinase, Receptor, Transferase, Tyrosine-protein kinase
Biological processImmunity, Inflammatory response, Innate immunity
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDAi2.7.10.1 2681
ReactomeiR-HSA-449836 Other interleukin signaling
SignaLinkiP07333
SIGNORiP07333

Names & Taxonomyi

Protein namesi
Recommended name:
Macrophage colony-stimulating factor 1 receptor
Alternative name(s):
CSF-1 receptor (EC:2.7.10.1)
Short name:
CSF-1-R
Short name:
CSF-1R
Short name:
M-CSF-R
Proto-oncogene c-Fms
CD_antigen: CD115
Gene namesi
Name:CSF1R
Synonyms:FMS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000182578.13
HGNCiHGNC:2433 CSF1R
MIMi164770 gene
neXtProtiNX_P07333

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini20 – 517ExtracellularSequence analysisAdd BLAST498
Transmembranei518 – 538HelicalSequence analysisAdd BLAST21
Topological domaini539 – 972CytoplasmicSequence analysisAdd BLAST434

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Aberrant expression of CSF1 or CSF1R can promote cancer cell proliferation, invasion and formation of metastases. Overexpression of CSF1 or CSF1R is observed in a significant percentage of breast, ovarian, prostate, and endometrial cancers.
Aberrant expression of CSF1 or CSF1R may play a role in inflammatory diseases, such as rheumatoid arthritis, glomerulonephritis, atherosclerosis, and allograft rejection.
Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:221820
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067396585 – 619GKTLG…VKMLK → A in HDLS. 1 PublicationAdd BLAST35
Natural variantiVAR_067397589G → E in HDLS. 1 PublicationCorresponds to variant dbSNP:rs281860268EnsemblClinVar.1
Natural variantiVAR_067398633E → K in HDLS; impairs autophosphorylation upon stimulation with CSF1. 1 PublicationCorresponds to variant dbSNP:rs281860269EnsemblClinVar.1
Natural variantiVAR_072081653C → R in HDLS. 1 PublicationCorresponds to variant dbSNP:rs690016559EnsemblClinVar.1
Natural variantiVAR_067401766M → T in HDLS; impairs autophosphorylation upon stimulation with CSF1. 1 PublicationCorresponds to variant dbSNP:rs281860270EnsemblClinVar.1
Natural variantiVAR_067402770A → P in HDLS. 1 PublicationCorresponds to variant dbSNP:rs281860271EnsemblClinVar.1
Natural variantiVAR_067403774 – 814Missing in HDLS. 1 PublicationAdd BLAST41
Natural variantiVAR_067404775I → N in HDLS; impairs autophosphorylation upon stimulation with CSF1. 1 PublicationCorresponds to variant dbSNP:rs281860273EnsemblClinVar.1
Natural variantiVAR_067405794I → T in HDLS. 1 PublicationCorresponds to variant dbSNP:rs281860274EnsemblClinVar.1
Natural variantiVAR_067406837D → Y in HDLS. 1 PublicationCorresponds to variant dbSNP:rs387906662EnsemblClinVar.1
Natural variantiVAR_072082843I → F in HDLS. 1 PublicationCorresponds to variant dbSNP:rs690016558EnsemblClinVar.1
Natural variantiVAR_067407849F → S in HDLS. 1 PublicationCorresponds to variant dbSNP:rs281860277EnsemblClinVar.1
Natural variantiVAR_067408849Missing in HDLS. 1 Publication1
Natural variantiVAR_067409868L → P in HDLS. 1 PublicationCorresponds to variant dbSNP:rs281860278EnsemblClinVar.1
Natural variantiVAR_067410875M → T in HDLS. 1 PublicationCorresponds to variant dbSNP:rs281860279EnsemblClinVar.1
Natural variantiVAR_067411878P → T in HDLS. 1 PublicationCorresponds to variant dbSNP:rs281860280EnsemblClinVar.1
Natural variantiVAR_072083906I → T in HDLS. 1 PublicationCorresponds to variant dbSNP:rs690016560EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi301L → S: Constitutive kinase activity. 1 Publication1
Mutagenesisi708Y → F: Impairs degradation of activated CSF1R. 1 Publication1
Mutagenesisi802D → V: Constitutive kinase activity. Loss of inhibition by imatinib. 2 Publications1
Mutagenesisi809Y → F: Reduced kinase activity. Reduced interaction with SRC, FYN and YES1. 1 Publication1
Mutagenesisi969Y → F: Abolishes down-regulation of activated CSF1R. 1 Publication1

Keywords - Diseasei

Disease mutation, Proto-oncogene

Organism-specific databases

DisGeNETi1436
GeneReviewsiCSF1R
MalaCardsiCSF1R
MIMi221820 phenotype
OpenTargetsiENSG00000182578
Orphaneti313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
PharmGKBiPA26936

Chemistry databases

ChEMBLiCHEMBL1844
DrugBankiDB07167 5-CYANO-FURAN-2-CARBOXYLIC ACID [5-HYDROXYMETHYL-2-(4-METHYL-PIPERIDIN-1-YL)-PHENYL]-AMIDE
DB07202 6-CHLORO-3-(3-METHYLISOXAZOL-5-YL)-4-PHENYLQUINOLIN-2(1H)-ONE
DB06080 ABT-869
DB00619 Imatinib
DB01268 Sunitinib
GuidetoPHARMACOLOGYi1806

Polymorphism and mutation databases

BioMutaiCSF1R
DMDMi547770

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 19Sequence analysisAdd BLAST19
ChainiPRO_000001676520 – 972Macrophage colony-stimulating factor 1 receptorAdd BLAST953

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi42 ↔ 84PROSITE-ProRule annotation
Glycosylationi45N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi73N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi127 ↔ 177PROSITE-ProRule annotation
Glycosylationi153N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi224 ↔ 278PROSITE-ProRule annotation
Glycosylationi240N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi275N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi302N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi335N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi353N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi412N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi419 ↔ 485PROSITE-ProRule annotation
Glycosylationi428N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi480N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei546Phosphotyrosine; by autocatalysis1 Publication1
Modified residuei561Phosphotyrosine; by autocatalysisBy similarity1
Modified residuei699Phosphotyrosine; by autocatalysisCombined sources1 Publication1
Modified residuei708Phosphotyrosine; by autocatalysis1 Publication1
Modified residuei713PhosphoserineCombined sources1
Modified residuei723Phosphotyrosine; by autocatalysis1 Publication1
Modified residuei809Phosphotyrosine; by autocatalysis1 Publication1
Modified residuei923Phosphotyrosine; by autocatalysisBy similarity1
Modified residuei969Phosphotyrosine; by autocatalysisBy similarity1

Post-translational modificationi

Autophosphorylated in response to CSF1 or IL34 binding. Phosphorylation at Tyr-561 is important for normal down-regulation of signaling by ubiquitination, internalization and degradation. Phosphorylation at Tyr-561 and Tyr-809 is important for interaction with SRC family members, including FYN, YES1 and SRC, and for subsequent activation of these protein kinases. Phosphorylation at Tyr-699 and Tyr-923 is important for interaction with GRB2. Phosphorylation at Tyr-723 is important for interaction with PIK3R1. Phosphorylation at Tyr-708 is important for normal receptor degradation. Phosphorylation at Tyr-723 and Tyr-809 is important for interaction with PLCG2. Phosphorylation at Tyr-969 is important for interaction with CBL. Dephosphorylation by PTPN2 negatively regulates downstream signaling and macrophage differentiation.2 Publications
Ubiquitinated. Becomes rapidly polyubiquitinated after autophosphorylation, leading to its degradation.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiP07333
PaxDbiP07333
PeptideAtlasiP07333
PRIDEiP07333
ProteomicsDBi51993

PTM databases

iPTMnetiP07333
PhosphoSitePlusiP07333

Expressioni

Tissue specificityi

Expressed in bone marrow and in differentiated blood mononuclear cells.

Inductioni

Up-regulated by glucocorticoids.1 Publication

Gene expression databases

BgeeiENSG00000182578 Expressed in 202 organ(s), highest expression level in spleen
CleanExiHS_CSF1R
ExpressionAtlasiP07333 baseline and differential
GenevisibleiP07333 HS

Organism-specific databases

HPAiCAB008970
HPA012323

Interactioni

Subunit structurei

Interacts with INPPL1/SHIP2 and THOC5 (By similarity). Monomer. Homodimer. Interacts with CSF1 and IL34. Interaction with dimeric CSF1 or IL34 leads to receptor homodimerization. Interacts (tyrosine phosphorylated) with PLCG2 (via SH2 domain). Interacts (tyrosine phosphorylated) with PIK3R1 (via SH2 domain). Interacts (tyrosine phosphorylated) with FYN, YES1 and SRC (via SH2 domain). Interacts (tyrosine phosphorylated) with CBL, GRB2 and SLA2.By similarity4 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi107823, 23 interactors
DIPiDIP-59421N
IntActiP07333, 15 interactors
MINTiP07333
STRINGi9606.ENSP00000286301

Chemistry databases

BindingDBiP07333

Structurei

Secondary structure

1972
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP07333
SMRiP07333
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP07333

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini21 – 104Ig-like C2-type 1Add BLAST84
Domaini107 – 197Ig-like C2-type 2Add BLAST91
Domaini203 – 290Ig-like C2-type 3Add BLAST88
Domaini299 – 399Ig-like C2-type 4Add BLAST101
Domaini402 – 502Ig-like C2-type 5Add BLAST101
Domaini582 – 910Protein kinasePROSITE-ProRule annotationAdd BLAST329

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni542 – 574Regulatory juxtamembrane domainAdd BLAST33
Regioni796 – 818Activation loopAdd BLAST23

Domaini

The juxtamembrane domain functions as autoinhibitory region. Phosphorylation of tyrosine residues in this region leads to a conformation change and activation of the kinase.
The activation loop plays an important role in the regulation of kinase activity. Phosphorylation of tyrosine residues in this region leads to a conformation change and activation of the kinase.

Sequence similaritiesi

Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.PROSITE-ProRule annotation

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0200 Eukaryota
COG0515 LUCA
GeneTreeiENSGT00760000118923
HOGENOMiHOG000112008
HOVERGENiHBG004335
InParanoidiP07333
KOiK05090
OMAiWKIIESY
OrthoDBiEOG091G01TL
PhylomeDBiP07333
TreeFamiTF325768

Family and domain databases

Gene3Di2.60.40.10, 5 hits
InterProiView protein in InterPro
IPR030658 CSF-1_receptor
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR003599 Ig_sub
IPR003598 Ig_sub2
IPR013151 Immunoglobulin
IPR011009 Kinase-like_dom_sf
IPR000719 Prot_kinase_dom
IPR017441 Protein_kinase_ATP_BS
IPR001245 Ser-Thr/Tyr_kinase_cat_dom
IPR008266 Tyr_kinase_AS
IPR020635 Tyr_kinase_cat_dom
IPR001824 Tyr_kinase_rcpt_3_CS
PfamiView protein in Pfam
PF00047 ig, 1 hit
PF07714 Pkinase_Tyr, 1 hit
PIRSFiPIRSF500947 CSF-1_receptor, 1 hit
SMARTiView protein in SMART
SM00409 IG, 5 hits
SM00408 IGc2, 2 hits
SM00219 TyrKc, 1 hit
SUPFAMiSSF48726 SSF48726, 5 hits
SSF56112 SSF56112, 2 hits
PROSITEiView protein in PROSITE
PS50835 IG_LIKE, 3 hits
PS00107 PROTEIN_KINASE_ATP, 1 hit
PS50011 PROTEIN_KINASE_DOM, 1 hit
PS00109 PROTEIN_KINASE_TYR, 1 hit
PS00240 RECEPTOR_TYR_KIN_III, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P07333-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGPGVLLLLL VATAWHGQGI PVIEPSVPEL VVKPGATVTL RCVGNGSVEW
60 70 80 90 100
DGPPSPHWTL YSDGSSSILS TNNATFQNTG TYRCTEPGDP LGGSAAIHLY
110 120 130 140 150
VKDPARPWNV LAQEVVVFED QDALLPCLLT DPVLEAGVSL VRVRGRPLMR
160 170 180 190 200
HTNYSFSPWH GFTIHRAKFI QSQDYQCSAL MGGRKVMSIS IRLKVQKVIP
210 220 230 240 250
GPPALTLVPA ELVRIRGEAA QIVCSASSVD VNFDVFLQHN NTKLAIPQQS
260 270 280 290 300
DFHNNRYQKV LTLNLDQVDF QHAGNYSCVA SNVQGKHSTS MFFRVVESAY
310 320 330 340 350
LNLSSEQNLI QEVTVGEGLN LKVMVEAYPG LQGFNWTYLG PFSDHQPEPK
360 370 380 390 400
LANATTKDTY RHTFTLSLPR LKPSEAGRYS FLARNPGGWR ALTFELTLRY
410 420 430 440 450
PPEVSVIWTF INGSGTLLCA ASGYPQPNVT WLQCSGHTDR CDEAQVLQVW
460 470 480 490 500
DDPYPEVLSQ EPFHKVTVQS LLTVETLEHN QTYECRAHNS VGSGSWAFIP
510 520 530 540 550
ISAGAHTHPP DEFLFTPVVV ACMSIMALLL LLLLLLLYKY KQKPKYQVRW
560 570 580 590 600
KIIESYEGNS YTFIDPTQLP YNEKWEFPRN NLQFGKTLGA GAFGKVVEAT
610 620 630 640 650
AFGLGKEDAV LKVAVKMLKS TAHADEKEAL MSELKIMSHL GQHENIVNLL
660 670 680 690 700
GACTHGGPVL VITEYCCYGD LLNFLRRKAE AMLGPSLSPG QDPEGGVDYK
710 720 730 740 750
NIHLEKKYVR RDSGFSSQGV DTYVEMRPVS TSSNDSFSEQ DLDKEDGRPL
760 770 780 790 800
ELRDLLHFSS QVAQGMAFLA SKNCIHRDVA ARNVLLTNGH VAKIGDFGLA
810 820 830 840 850
RDIMNDSNYI VKGNARLPVK WMAPESIFDC VYTVQSDVWS YGILLWEIFS
860 870 880 890 900
LGLNPYPGIL VNSKFYKLVK DGYQMAQPAF APKNIYSIMQ ACWALEPTHR
910 920 930 940 950
PTFQQICSFL QEQAQEDRRE RDYTNLPSSS RSGGSGSSSS ELEEESSSEH
960 970
LTCCEQGDIA QPLLQPNNYQ FC
Length:972
Mass (Da):107,984
Last modified:June 1, 1994 - v2
Checksum:iA8D99BE237573FE8
GO
Isoform 2 (identifier: P07333-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     297-306: ESAYLNLSSE → GTPSPSLCPA
     307-972: Missing.

Show »
Length:306
Mass (Da):33,248
Checksum:iDDAEA1B05EAAF3C2
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PEK4E9PEK4_HUMAN
Macrophage colony-stimulating facto...
CSF1R
671Annotation score:
H0YAL5H0YAL5_HUMAN
Macrophage colony-stimulating facto...
CSF1R
64Annotation score:
D6RGW1D6RGW1_HUMAN
Macrophage colony-stimulating facto...
CSF1R
49Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti54P → A in CAA27300 (PubMed:2421165).Curated1
Sequence conflicti247P → H in AAH47521 (PubMed:15489334).Curated1
Sequence conflicti354A → V in AAH47521 (PubMed:15489334).Curated1
Sequence conflicti629A → S in AAH47521 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04203832V → G1 PublicationCorresponds to variant dbSNP:rs56048668EnsemblClinVar.1
Natural variantiVAR_061290245A → S. Corresponds to variant dbSNP:rs41338945EnsemblClinVar.1
Natural variantiVAR_049718279V → M. Corresponds to variant dbSNP:rs3829986EnsemblClinVar.1
Natural variantiVAR_042039362H → R1 PublicationCorresponds to variant dbSNP:rs10079250EnsemblClinVar.1
Natural variantiVAR_042040413G → S1 PublicationCorresponds to variant dbSNP:rs34951517EnsemblClinVar.1
Natural variantiVAR_042041536L → V1 PublicationCorresponds to variant dbSNP:rs55942044EnsemblClinVar.1
Natural variantiVAR_067396585 – 619GKTLG…VKMLK → A in HDLS. 1 PublicationAdd BLAST35
Natural variantiVAR_067397589G → E in HDLS. 1 PublicationCorresponds to variant dbSNP:rs281860268EnsemblClinVar.1
Natural variantiVAR_067398633E → K in HDLS; impairs autophosphorylation upon stimulation with CSF1. 1 PublicationCorresponds to variant dbSNP:rs281860269EnsemblClinVar.1
Natural variantiVAR_072081653C → R in HDLS. 1 PublicationCorresponds to variant dbSNP:rs690016559EnsemblClinVar.1
Natural variantiVAR_042042693P → H in a lung squamous cell carcinoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_067399710R → H1 PublicationCorresponds to variant dbSNP:rs201569135Ensembl.1
Natural variantiVAR_067400747G → R1 PublicationCorresponds to variant dbSNP:rs41355444EnsemblClinVar.1
Natural variantiVAR_067401766M → T in HDLS; impairs autophosphorylation upon stimulation with CSF1. 1 PublicationCorresponds to variant dbSNP:rs281860270EnsemblClinVar.1
Natural variantiVAR_067402770A → P in HDLS. 1 PublicationCorresponds to variant dbSNP:rs281860271EnsemblClinVar.1
Natural variantiVAR_067403774 – 814Missing in HDLS. 1 PublicationAdd BLAST41
Natural variantiVAR_067404775I → N in HDLS; impairs autophosphorylation upon stimulation with CSF1. 1 PublicationCorresponds to variant dbSNP:rs281860273EnsemblClinVar.1
Natural variantiVAR_067405794I → T in HDLS. 1 PublicationCorresponds to variant dbSNP:rs281860274EnsemblClinVar.1
Natural variantiVAR_067406837D → Y in HDLS. 1 PublicationCorresponds to variant dbSNP:rs387906662EnsemblClinVar.1
Natural variantiVAR_072082843I → F in HDLS. 1 PublicationCorresponds to variant dbSNP:rs690016558EnsemblClinVar.1
Natural variantiVAR_067407849F → S in HDLS. 1 PublicationCorresponds to variant dbSNP:rs281860277EnsemblClinVar.1
Natural variantiVAR_067408849Missing in HDLS. 1 Publication1
Natural variantiVAR_067409868L → P in HDLS. 1 PublicationCorresponds to variant dbSNP:rs281860278EnsemblClinVar.1
Natural variantiVAR_067410875M → T in HDLS. 1 PublicationCorresponds to variant dbSNP:rs281860279EnsemblClinVar.1
Natural variantiVAR_067411878P → T in HDLS. 1 PublicationCorresponds to variant dbSNP:rs281860280EnsemblClinVar.1
Natural variantiVAR_072083906I → T in HDLS. 1 PublicationCorresponds to variant dbSNP:rs690016560EnsemblClinVar.1
Natural variantiVAR_042043920E → D2 PublicationsCorresponds to variant dbSNP:rs34030164EnsemblClinVar.1
Natural variantiVAR_042044921R → Q1 PublicationCorresponds to variant dbSNP:rs56059682Ensembl.1
Natural variantiVAR_011953969Y → C. Corresponds to variant dbSNP:rs1801271EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_047757297 – 306ESAYLNLSSE → GTPSPSLCPA in isoform 2. 1 Publication10
Alternative sequenceiVSP_047758307 – 972Missing in isoform 2. 1 PublicationAdd BLAST666

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X03663 mRNA Translation: CAA27300.1
U63963 Genomic DNA Translation: AAB51696.1
M25786 mRNA Translation: AAA58421.1
EU826593 mRNA Translation: ACF47629.1
AC011382 Genomic DNA No translation available.
CH471062 Genomic DNA Translation: EAW61749.1
CH471062 Genomic DNA Translation: EAW61750.1
BC047521 mRNA Translation: AAH47521.1
M14002 Genomic DNA Translation: AAA35849.1
U78096 Genomic DNA Translation: AAB51235.1
M11067 Genomic DNA Translation: AAA35848.1
M14193 mRNA Translation: AAA35834.1
CCDSiCCDS4302.1 [P07333-1]
PIRiS08123 TVHUMD
RefSeqiNP_001275634.1, NM_001288705.2 [P07333-1]
NP_005202.2, NM_005211.3 [P07333-1]
UniGeneiHs.586219

Genome annotation databases

EnsembliENST00000286301; ENSP00000286301; ENSG00000182578 [P07333-1]
ENST00000543093; ENSP00000445282; ENSG00000182578 [P07333-2]
GeneIDi1436
KEGGihsa:1436
UCSCiuc003lrm.3 human [P07333-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X03663 mRNA Translation: CAA27300.1
U63963 Genomic DNA Translation: AAB51696.1
M25786 mRNA Translation: AAA58421.1
EU826593 mRNA Translation: ACF47629.1
AC011382 Genomic DNA No translation available.
CH471062 Genomic DNA Translation: EAW61749.1
CH471062 Genomic DNA Translation: EAW61750.1
BC047521 mRNA Translation: AAH47521.1
M14002 Genomic DNA Translation: AAA35849.1
U78096 Genomic DNA Translation: AAB51235.1
M11067 Genomic DNA Translation: AAA35848.1
M14193 mRNA Translation: AAA35834.1
CCDSiCCDS4302.1 [P07333-1]
PIRiS08123 TVHUMD
RefSeqiNP_001275634.1, NM_001288705.2 [P07333-1]
NP_005202.2, NM_005211.3 [P07333-1]
UniGeneiHs.586219

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2I0VX-ray2.80A538-678[»]
A753-922[»]
2I0YX-ray1.90A538-678[»]
A753-922[»]
2I1MX-ray1.80A538-678[»]
A753-922[»]
2OGVX-ray2.70A543-918[»]
3BEAX-ray2.02A538-678[»]
A753-922[»]
3DPKX-ray1.95A538-678[»]
A771-922[»]
3KRJX-ray2.10A538-678[»]
A753-922[»]
3KRLX-ray2.40A538-678[»]
A753-922[»]
3LCDX-ray2.50A538-919[»]
3LCOX-ray3.40A550-919[»]
4DKDX-ray3.00C20-299[»]
4HW7X-ray2.90A542-919[»]
4LIQX-ray2.60E2-512[»]
4R7HX-ray2.80A542-919[»]
4R7IX-ray2.75A542-919[»]
4WRLX-ray2.80A/C20-296[»]
4WRMX-ray6.85A20-504[»]
ProteinModelPortaliP07333
SMRiP07333
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107823, 23 interactors
DIPiDIP-59421N
IntActiP07333, 15 interactors
MINTiP07333
STRINGi9606.ENSP00000286301

Chemistry databases

BindingDBiP07333
ChEMBLiCHEMBL1844
DrugBankiDB07167 5-CYANO-FURAN-2-CARBOXYLIC ACID [5-HYDROXYMETHYL-2-(4-METHYL-PIPERIDIN-1-YL)-PHENYL]-AMIDE
DB07202 6-CHLORO-3-(3-METHYLISOXAZOL-5-YL)-4-PHENYLQUINOLIN-2(1H)-ONE
DB06080 ABT-869
DB00619 Imatinib
DB01268 Sunitinib
GuidetoPHARMACOLOGYi1806

PTM databases

iPTMnetiP07333
PhosphoSitePlusiP07333

Polymorphism and mutation databases

BioMutaiCSF1R
DMDMi547770

Proteomic databases

EPDiP07333
PaxDbiP07333
PeptideAtlasiP07333
PRIDEiP07333
ProteomicsDBi51993

Protocols and materials databases

DNASUi1436
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000286301; ENSP00000286301; ENSG00000182578 [P07333-1]
ENST00000543093; ENSP00000445282; ENSG00000182578 [P07333-2]
GeneIDi1436
KEGGihsa:1436
UCSCiuc003lrm.3 human [P07333-1]

Organism-specific databases

CTDi1436
DisGeNETi1436
EuPathDBiHostDB:ENSG00000182578.13
GeneCardsiCSF1R
GeneReviewsiCSF1R
HGNCiHGNC:2433 CSF1R
HPAiCAB008970
HPA012323
MalaCardsiCSF1R
MIMi164770 gene
221820 phenotype
neXtProtiNX_P07333
OpenTargetsiENSG00000182578
Orphaneti313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
PharmGKBiPA26936
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0200 Eukaryota
COG0515 LUCA
GeneTreeiENSGT00760000118923
HOGENOMiHOG000112008
HOVERGENiHBG004335
InParanoidiP07333
KOiK05090
OMAiWKIIESY
OrthoDBiEOG091G01TL
PhylomeDBiP07333
TreeFamiTF325768

Enzyme and pathway databases

BRENDAi2.7.10.1 2681
ReactomeiR-HSA-449836 Other interleukin signaling
SignaLinkiP07333
SIGNORiP07333

Miscellaneous databases

ChiTaRSiCSF1R human
EvolutionaryTraceiP07333
GeneWikiiColony_stimulating_factor_1_receptor
GenomeRNAii1436
PROiPR:P07333
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000182578 Expressed in 202 organ(s), highest expression level in spleen
CleanExiHS_CSF1R
ExpressionAtlasiP07333 baseline and differential
GenevisibleiP07333 HS

Family and domain databases

Gene3Di2.60.40.10, 5 hits
InterProiView protein in InterPro
IPR030658 CSF-1_receptor
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR003599 Ig_sub
IPR003598 Ig_sub2
IPR013151 Immunoglobulin
IPR011009 Kinase-like_dom_sf
IPR000719 Prot_kinase_dom
IPR017441 Protein_kinase_ATP_BS
IPR001245 Ser-Thr/Tyr_kinase_cat_dom
IPR008266 Tyr_kinase_AS
IPR020635 Tyr_kinase_cat_dom
IPR001824 Tyr_kinase_rcpt_3_CS
PfamiView protein in Pfam
PF00047 ig, 1 hit
PF07714 Pkinase_Tyr, 1 hit
PIRSFiPIRSF500947 CSF-1_receptor, 1 hit
SMARTiView protein in SMART
SM00409 IG, 5 hits
SM00408 IGc2, 2 hits
SM00219 TyrKc, 1 hit
SUPFAMiSSF48726 SSF48726, 5 hits
SSF56112 SSF56112, 2 hits
PROSITEiView protein in PROSITE
PS50835 IG_LIKE, 3 hits
PS00107 PROTEIN_KINASE_ATP, 1 hit
PS50011 PROTEIN_KINASE_DOM, 1 hit
PS00109 PROTEIN_KINASE_TYR, 1 hit
PS00240 RECEPTOR_TYR_KIN_III, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCSF1R_HUMAN
AccessioniPrimary (citable) accession number: P07333
Secondary accession number(s): B5A955
, D3DQG2, Q6LDW5, Q6LDY4, Q86VW7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1988
Last sequence update: June 1, 1994
Last modified: September 12, 2018
This is version 210 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human and mouse protein kinases
    Human and mouse protein kinases: classification and index
  4. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
  5. SIMILARITY comments
    Index of protein domains and families
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  8. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
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