UniProtKB - P07333 (CSF1R_HUMAN)
Macrophage colony-stimulating factor 1 receptor
CSF1R
Functioni
Catalytic activityi
- ATP + L-tyrosyl-[protein] = ADP + H+ + O-phospho-L-tyrosyl-[protein]PROSITE-ProRule annotation6 PublicationsEC:2.7.10.1PROSITE-ProRule annotation6 Publications
Activity regulationi
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 616 | ATPCurated | 1 | |
Active sitei | 778 | Proton acceptorPROSITE-ProRule annotation | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 588 – 596 | ATPPROSITE-ProRule annotation | 9 |
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
- protein tyrosine kinase activity Source: ARUK-UCL
- transmembrane receptor protein tyrosine kinase activity Source: GO_Central
GO - Biological processi
- axon guidance Source: Ensembl
- cell-cell junction maintenance Source: UniProtKB
- cell population proliferation Source: UniProtKB
- cellular response to cytokine stimulus Source: UniProtKB
- cellular response to macrophage colony-stimulating factor stimulus Source: UniProtKB
- cytokine-mediated signaling pathway Source: UniProtKB
- forebrain neuron differentiation Source: Ensembl
- hematopoietic progenitor cell differentiation Source: GO_Central
- hemopoiesis Source: UniProtKB
- inflammatory response Source: UniProtKB
- innate immune response Source: UniProtKB-KW
- macrophage colony-stimulating factor signaling pathway Source: BHF-UCL
- macrophage differentiation Source: UniProtKB
- mammary gland duct morphogenesis Source: UniProtKB
- microglial cell proliferation Source: Ensembl
- monocyte differentiation Source: UniProtKB
- multicellular organism development Source: GO_Central
- negative regulation of apoptotic process Source: Ensembl
- negative regulation of cell population proliferation Source: Ensembl
- olfactory bulb development Source: Ensembl
- osteoclast differentiation Source: UniProtKB
- peptidyl-tyrosine phosphorylation Source: UniProtKB
- phosphatidylinositol-mediated signaling Source: UniProtKB
- phosphatidylinositol metabolic process Source: UniProtKB
- positive regulation by host of viral process Source: Ensembl
- positive regulation of cell migration Source: UniProtKB
- positive regulation of cell motility Source: UniProtKB
- positive regulation of cell population proliferation Source: UniProtKB
- positive regulation of chemokine secretion Source: UniProtKB
- positive regulation of ERK1 and ERK2 cascade Source: UniProtKB
- positive regulation of kinase activity Source: GO_Central
- positive regulation of macrophage chemotaxis Source: ARUK-UCL
- positive regulation of macrophage proliferation Source: ARUK-UCL
- positive regulation of protein phosphorylation Source: UniProtKB
- positive regulation of protein serine/threonine kinase activity Source: UniProtKB
- positive regulation of protein tyrosine kinase activity Source: UniProtKB
- positive regulation of tyrosine phosphorylation of STAT protein Source: UniProtKB
- protein autophosphorylation Source: UniProtKB
- regulation of actin cytoskeleton reorganization Source: UniProtKB
- regulation of bone resorption Source: UniProtKB
- regulation of cell shape Source: UniProtKB
- response to ischemia Source: ARUK-UCL
- ruffle organization Source: UniProtKB
- signal transduction Source: ProtInc
- transmembrane receptor protein tyrosine kinase signaling pathway Source: UniProtKB
Keywordsi
Molecular function | Kinase, Receptor, Transferase, Tyrosine-protein kinase |
Biological process | Immunity, Inflammatory response, Innate immunity |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
BRENDAi | 2.7.10.1, 2681 |
PathwayCommonsi | P07333 |
Reactomei | R-HSA-449836, Other interleukin signaling R-HSA-8853884, Transcriptional Regulation by VENTX |
SignaLinki | P07333 |
SIGNORi | P07333 |
Names & Taxonomyi
Protein namesi | Recommended name: Macrophage colony-stimulating factor 1 receptorAlternative name(s): Proto-oncogene c-Fms CD_antigen: CD115 |
Gene namesi | Name:CSF1R Synonyms:FMS |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000182578.13 |
HGNCi | HGNC:2433, CSF1R |
MIMi | 164770, gene |
neXtProti | NX_P07333 |
Subcellular locationi
Plasma membrane
Nucleus
- nucleoplasm Source: HPA
Plasma Membrane
- integral component of plasma membrane Source: GO_Central
- plasma membrane Source: HPA
Other locations
- cell surface Source: UniProtKB
- CSF1-CSF1R complex Source: BHF-UCL
- intracellular membrane-bounded organelle Source: HPA
- receptor complex Source: GO_Central
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 20 – 517 | ExtracellularSequence analysisAdd BLAST | 498 | |
Transmembranei | 518 – 538 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 539 – 972 | CytoplasmicSequence analysisAdd BLAST | 434 |
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
Involvement in diseasei
Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS)4 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067396 | 585 – 619 | GKTLG…VKMLK → A in HDLS. 1 PublicationAdd BLAST | 35 | |
Natural variantiVAR_067397 | 589 | G → E in HDLS. 1 PublicationCorresponds to variant dbSNP:rs281860268EnsemblClinVar. | 1 | |
Natural variantiVAR_067398 | 633 | E → K in HDLS; impairs autophosphorylation upon stimulation with CSF1. 1 PublicationCorresponds to variant dbSNP:rs281860269EnsemblClinVar. | 1 | |
Natural variantiVAR_072081 | 653 | C → R in HDLS. 1 PublicationCorresponds to variant dbSNP:rs690016559EnsemblClinVar. | 1 | |
Natural variantiVAR_083144 | 765 | G → D in HDLS; impairs autophosphorylation upon stimulation with CSF1. 1 PublicationCorresponds to variant dbSNP:rs690016566EnsemblClinVar. | 1 | |
Natural variantiVAR_067401 | 766 | M → T in HDLS; impairs autophosphorylation upon stimulation with CSF1. 2 PublicationsCorresponds to variant dbSNP:rs281860270EnsemblClinVar. | 1 | |
Natural variantiVAR_067402 | 770 | A → P in HDLS. 1 PublicationCorresponds to variant dbSNP:rs281860271EnsemblClinVar. | 1 | |
Natural variantiVAR_067403 | 774 – 814 | Missing in HDLS. 1 PublicationAdd BLAST | 41 | |
Natural variantiVAR_067404 | 775 | I → N in HDLS; impairs autophosphorylation upon stimulation with CSF1. 1 PublicationCorresponds to variant dbSNP:rs281860273EnsemblClinVar. | 1 | |
Natural variantiVAR_083145 | 781 | A → E in HDLS; impairs autophosphorylation upon stimulation with CSF1. 1 PublicationCorresponds to variant dbSNP:rs587777247EnsemblClinVar. | 1 | |
Natural variantiVAR_083146 | 782 | R → H in HDLS; impairs autophosphorylation upon stimulation with CSF1. 1 PublicationCorresponds to variant dbSNP:rs281860281EnsemblClinVar. | 1 | |
Natural variantiVAR_067405 | 794 | I → T in HDLS; impairs autophosphorylation upon stimulation with CSF1. 2 PublicationsCorresponds to variant dbSNP:rs281860274EnsemblClinVar. | 1 | |
Natural variantiVAR_083147 | 824 | P → S in HDLS; impairs autophosphorylation upon stimulation with CSF1. 1 Publication | 1 | |
Natural variantiVAR_067406 | 837 | D → Y in HDLS. 1 PublicationCorresponds to variant dbSNP:rs387906662EnsemblClinVar. | 1 | |
Natural variantiVAR_072082 | 843 | I → F in HDLS. 1 PublicationCorresponds to variant dbSNP:rs690016558EnsemblClinVar. | 1 | |
Natural variantiVAR_067407 | 849 | F → S in HDLS. 1 PublicationCorresponds to variant dbSNP:rs281860277EnsemblClinVar. | 1 | |
Natural variantiVAR_067408 | 849 | Missing in HDLS. 1 Publication | 1 | |
Natural variantiVAR_067409 | 868 | L → P in HDLS. 1 PublicationCorresponds to variant dbSNP:rs281860278EnsemblClinVar. | 1 | |
Natural variantiVAR_067410 | 875 | M → T in HDLS; impairs autophosphorylation upon stimulation with CSF1. 2 PublicationsCorresponds to variant dbSNP:rs281860279EnsemblClinVar. | 1 | |
Natural variantiVAR_067411 | 878 | P → T in HDLS. 1 PublicationCorresponds to variant dbSNP:rs281860280EnsemblClinVar. | 1 | |
Natural variantiVAR_072083 | 906 | I → T in HDLS. 1 PublicationCorresponds to variant dbSNP:rs690016560EnsemblClinVar. | 1 |
Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083140 | 132 | P → L in BANDDOS; impairs phosphorylation of JNK kinases upon stimulation with CSF1. 1 PublicationCorresponds to variant dbSNP:rs1351319114EnsemblClinVar. | 1 | |
Natural variantiVAR_083141 | 481 – 972 | Missing in BANDDOS. 1 PublicationCorresponds to variant dbSNP:rs917027829Add BLAST | 492 | |
Natural variantiVAR_083142 | 627 | Missing in BANDDOS; impairs phosphorylation of JNK kinases upon stimulation with CSF1. 1 PublicationCorresponds to variant dbSNP:rs1554101963Ensembl. | 1 | |
Natural variantiVAR_083143 | 643 | H → Q in BANDDOS. 1 PublicationCorresponds to variant dbSNP:rs184499252EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 301 | L → S: Constitutive kinase activity. 1 Publication | 1 | |
Mutagenesisi | 708 | Y → F: Impairs degradation of activated CSF1R. 1 Publication | 1 | |
Mutagenesisi | 802 | D → V: Constitutive kinase activity. Loss of inhibition by imatinib. 2 Publications | 1 | |
Mutagenesisi | 809 | Y → F: Reduced kinase activity. Reduced interaction with SRC, FYN and YES1. 1 Publication | 1 | |
Mutagenesisi | 969 | Y → F: Abolishes down-regulation of activated CSF1R. 1 Publication | 1 |
Keywords - Diseasei
Disease mutation, Neurodegeneration, Proto-oncogeneOrganism-specific databases
DisGeNETi | 1436 |
GeneReviewsi | CSF1R |
MalaCardsi | CSF1R |
MIMi | 221820, phenotype 618476, phenotype |
OpenTargetsi | ENSG00000182578 |
Orphaneti | 556985, Early-onset calcifying leukoencephalopathy-skeletal dysplasia 313808, Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia |
PharmGKBi | PA26936 |
Miscellaneous databases
Pharosi | P07333, Tclin |
Chemistry databases
ChEMBLi | CHEMBL1844 |
DrugBanki | DB07167, 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 DB12147, Erdafitinib DB12010, Fostamatinib DB00619, Imatinib DB12978, Pexidartinib DB01268, Sunitinib |
DrugCentrali | P07333 |
GuidetoPHARMACOLOGYi | 1806 |
Polymorphism and mutation databases
BioMutai | CSF1R |
DMDMi | 547770 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 19 | Sequence analysisAdd BLAST | 19 | |
ChainiPRO_0000016765 | 20 – 972 | Macrophage colony-stimulating factor 1 receptorAdd BLAST | 953 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 42 ↔ 84 | PROSITE-ProRule annotation | ||
Glycosylationi | 45 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 73 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 127 ↔ 177 | PROSITE-ProRule annotation | ||
Glycosylationi | 153 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 224 ↔ 278 | PROSITE-ProRule annotation | ||
Glycosylationi | 240 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 275 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 302 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 335 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 353 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 412 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 419 ↔ 485 | PROSITE-ProRule annotation | ||
Glycosylationi | 428 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 480 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 546 | Phosphotyrosine; by autocatalysis1 Publication | 1 | |
Modified residuei | 561 | Phosphotyrosine; by autocatalysisBy similarity | 1 | |
Modified residuei | 699 | Phosphotyrosine; by autocatalysisCombined sources1 Publication | 1 | |
Modified residuei | 708 | Phosphotyrosine; by autocatalysis1 Publication | 1 | |
Modified residuei | 713 | PhosphoserineCombined sources | 1 | |
Modified residuei | 723 | Phosphotyrosine; by autocatalysis1 Publication | 1 | |
Modified residuei | 809 | Phosphotyrosine; by autocatalysis1 Publication | 1 | |
Modified residuei | 923 | Phosphotyrosine; by autocatalysisBy similarity | 1 | |
Modified residuei | 969 | Phosphotyrosine; by autocatalysisBy similarity | 1 |
Post-translational modificationi
Keywords - PTMi
Disulfide bond, Glycoprotein, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | P07333 |
jPOSTi | P07333 |
MassIVEi | P07333 |
PaxDbi | P07333 |
PeptideAtlasi | P07333 |
PRIDEi | P07333 |
ProteomicsDBi | 51993 [P07333-1] 5930 |
PTM databases
GlyConnecti | 1955, 14 N-Linked glycans (3 sites) |
GlyGeni | P07333, 12 sites |
iPTMneti | P07333 |
PhosphoSitePlusi | P07333 |
Expressioni
Tissue specificityi
Inductioni
Gene expression databases
Bgeei | ENSG00000182578, Expressed in spleen and 218 other tissues |
ExpressionAtlasi | P07333, baseline and differential |
Genevisiblei | P07333, HS |
Organism-specific databases
HPAi | ENSG00000182578, Tissue enhanced (blood, lymphoid tissue) |
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 PublicationsBinary interactionsi
Hide detailsP07333
With | #Exp. | IntAct |
---|---|---|
CSF1 [P09603] | 13 | EBI-2835440,EBI-2872294 |
IL34 - isoform 1 [Q6ZMJ4-1] | 9 | EBI-2835440,EBI-15978980 |
GO - Molecular functioni
- cytokine binding Source: UniProtKB
- protein homodimerization activity Source: BHF-UCL
- protein phosphatase binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 107823, 30 interactors |
DIPi | DIP-59421N |
IntActi | P07333, 31 interactors |
MINTi | P07333 |
STRINGi | 9606.ENSP00000286301 |
Chemistry databases
BindingDBi | P07333 |
Miscellaneous databases
RNActi | P07333, protein |
Structurei
Secondary structure
3D structure databases
SMRi | P07333 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P07333 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 21 – 104 | Ig-like C2-type 1Add BLAST | 84 | |
Domaini | 107 – 197 | Ig-like C2-type 2Add BLAST | 91 | |
Domaini | 203 – 290 | Ig-like C2-type 3Add BLAST | 88 | |
Domaini | 299 – 399 | Ig-like C2-type 4Add BLAST | 101 | |
Domaini | 402 – 502 | Ig-like C2-type 5Add BLAST | 101 | |
Domaini | 582 – 910 | Protein kinasePROSITE-ProRule annotationAdd BLAST | 329 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 542 – 574 | Regulatory juxtamembrane domainAdd BLAST | 33 | |
Regioni | 796 – 818 | Activation loopAdd BLAST | 23 |
Domaini
Sequence similaritiesi
Keywords - Domaini
Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG0200, Eukaryota |
GeneTreei | ENSGT00940000155506 |
HOGENOMi | CLU_000288_49_0_1 |
InParanoidi | P07333 |
OMAi | TFQQICF |
OrthoDBi | 236292at2759 |
PhylomeDBi | P07333 |
TreeFami | TF325768 |
Family and domain databases
Gene3Di | 2.60.40.10, 5 hits |
InterProi | View 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 |
Pfami | View protein in Pfam PF00047, ig, 1 hit PF07714, PK_Tyr_Ser-Thr, 1 hit |
PIRSFi | PIRSF500947, CSF-1_receptor, 1 hit |
SMARTi | View protein in SMART SM00409, IG, 5 hits SM00408, IGc2, 2 hits SM00219, TyrKc, 1 hit |
SUPFAMi | SSF48726, SSF48726, 5 hits SSF56112, SSF56112, 1 hit |
PROSITEi | View 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 |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE9PEK4 | E9PEK4_HUMAN | Receptor protein-tyrosine kinase | CSF1R | 671 | Annotation score: | ||
H0YAL5 | H0YAL5_HUMAN | Receptor protein-tyrosine kinase | CSF1R | 64 | Annotation score: | ||
D6RGW1 | D6RGW1_HUMAN | Macrophage colony-stimulating facto... | CSF1R | 49 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 54 | P → A in CAA27300 (PubMed:2421165).Curated | 1 | |
Sequence conflicti | 247 | P → H in AAH47521 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 354 | A → V in AAH47521 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 629 | A → S in AAH47521 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_042038 | 32 | V → G1 PublicationCorresponds to variant dbSNP:rs56048668EnsemblClinVar. | 1 | |
Natural variantiVAR_083140 | 132 | P → L in BANDDOS; impairs phosphorylation of JNK kinases upon stimulation with CSF1. 1 PublicationCorresponds to variant dbSNP:rs1351319114EnsemblClinVar. | 1 | |
Natural variantiVAR_061290 | 245 | A → S. Corresponds to variant dbSNP:rs41338945EnsemblClinVar. | 1 | |
Natural variantiVAR_049718 | 279 | V → M. Corresponds to variant dbSNP:rs3829986EnsemblClinVar. | 1 | |
Natural variantiVAR_042039 | 362 | H → R1 PublicationCorresponds to variant dbSNP:rs10079250EnsemblClinVar. | 1 | |
Natural variantiVAR_042040 | 413 | G → S1 PublicationCorresponds to variant dbSNP:rs34951517EnsemblClinVar. | 1 | |
Natural variantiVAR_083141 | 481 – 972 | Missing in BANDDOS. 1 PublicationCorresponds to variant dbSNP:rs917027829Add BLAST | 492 | |
Natural variantiVAR_042041 | 536 | L → V1 PublicationCorresponds to variant dbSNP:rs55942044EnsemblClinVar. | 1 | |
Natural variantiVAR_067396 | 585 – 619 | GKTLG…VKMLK → A in HDLS. 1 PublicationAdd BLAST | 35 | |
Natural variantiVAR_067397 | 589 | G → E in HDLS. 1 PublicationCorresponds to variant dbSNP:rs281860268EnsemblClinVar. | 1 | |
Natural variantiVAR_083142 | 627 | Missing in BANDDOS; impairs phosphorylation of JNK kinases upon stimulation with CSF1. 1 PublicationCorresponds to variant dbSNP:rs1554101963Ensembl. | 1 | |
Natural variantiVAR_067398 | 633 | E → K in HDLS; impairs autophosphorylation upon stimulation with CSF1. 1 PublicationCorresponds to variant dbSNP:rs281860269EnsemblClinVar. | 1 | |
Natural variantiVAR_083143 | 643 | H → Q in BANDDOS. 1 PublicationCorresponds to variant dbSNP:rs184499252EnsemblClinVar. | 1 | |
Natural variantiVAR_072081 | 653 | C → R in HDLS. 1 PublicationCorresponds to variant dbSNP:rs690016559EnsemblClinVar. | 1 | |
Natural variantiVAR_042042 | 693 | P → H in a lung squamous cell carcinoma sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_067399 | 710 | R → H1 PublicationCorresponds to variant dbSNP:rs201569135Ensembl. | 1 | |
Natural variantiVAR_067400 | 747 | G → R1 PublicationCorresponds to variant dbSNP:rs41355444EnsemblClinVar. | 1 | |
Natural variantiVAR_083144 | 765 | G → D in HDLS; impairs autophosphorylation upon stimulation with CSF1. 1 PublicationCorresponds to variant dbSNP:rs690016566EnsemblClinVar. | 1 | |
Natural variantiVAR_067401 | 766 | M → T in HDLS; impairs autophosphorylation upon stimulation with CSF1. 2 PublicationsCorresponds to variant dbSNP:rs281860270EnsemblClinVar. | 1 | |
Natural variantiVAR_067402 | 770 | A → P in HDLS. 1 PublicationCorresponds to variant dbSNP:rs281860271EnsemblClinVar. | 1 | |
Natural variantiVAR_067403 | 774 – 814 | Missing in HDLS. 1 PublicationAdd BLAST | 41 | |
Natural variantiVAR_067404 | 775 | I → N in HDLS; impairs autophosphorylation upon stimulation with CSF1. 1 PublicationCorresponds to variant dbSNP:rs281860273EnsemblClinVar. | 1 | |
Natural variantiVAR_083145 | 781 | A → E in HDLS; impairs autophosphorylation upon stimulation with CSF1. 1 PublicationCorresponds to variant dbSNP:rs587777247EnsemblClinVar. | 1 | |
Natural variantiVAR_083146 | 782 | R → H in HDLS; impairs autophosphorylation upon stimulation with CSF1. 1 PublicationCorresponds to variant dbSNP:rs281860281EnsemblClinVar. | 1 | |
Natural variantiVAR_067405 | 794 | I → T in HDLS; impairs autophosphorylation upon stimulation with CSF1. 2 PublicationsCorresponds to variant dbSNP:rs281860274EnsemblClinVar. | 1 | |
Natural variantiVAR_083147 | 824 | P → S in HDLS; impairs autophosphorylation upon stimulation with CSF1. 1 Publication | 1 | |
Natural variantiVAR_067406 | 837 | D → Y in HDLS. 1 PublicationCorresponds to variant dbSNP:rs387906662EnsemblClinVar. | 1 | |
Natural variantiVAR_072082 | 843 | I → F in HDLS. 1 PublicationCorresponds to variant dbSNP:rs690016558EnsemblClinVar. | 1 | |
Natural variantiVAR_067407 | 849 | F → S in HDLS. 1 PublicationCorresponds to variant dbSNP:rs281860277EnsemblClinVar. | 1 | |
Natural variantiVAR_067408 | 849 | Missing in HDLS. 1 Publication | 1 | |
Natural variantiVAR_067409 | 868 | L → P in HDLS. 1 PublicationCorresponds to variant dbSNP:rs281860278EnsemblClinVar. | 1 | |
Natural variantiVAR_067410 | 875 | M → T in HDLS; impairs autophosphorylation upon stimulation with CSF1. 2 PublicationsCorresponds to variant dbSNP:rs281860279EnsemblClinVar. | 1 | |
Natural variantiVAR_067411 | 878 | P → T in HDLS. 1 PublicationCorresponds to variant dbSNP:rs281860280EnsemblClinVar. | 1 | |
Natural variantiVAR_072083 | 906 | I → T in HDLS. 1 PublicationCorresponds to variant dbSNP:rs690016560EnsemblClinVar. | 1 | |
Natural variantiVAR_042043 | 920 | E → D2 PublicationsCorresponds to variant dbSNP:rs34030164EnsemblClinVar. | 1 | |
Natural variantiVAR_042044 | 921 | R → Q1 PublicationCorresponds to variant dbSNP:rs56059682EnsemblClinVar. | 1 | |
Natural variantiVAR_011953 | 969 | Y → C. Corresponds to variant dbSNP:rs1801271EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_047757 | 297 – 306 | ESAYLNLSSE → GTPSPSLCPA in isoform 2. 1 Publication | 10 | |
Alternative sequenceiVSP_047758 | 307 – 972 | Missing in isoform 2. 1 PublicationAdd BLAST | 666 |
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 |
CCDSi | CCDS4302.1 [P07333-1] |
PIRi | S08123, TVHUMD |
RefSeqi | NP_001275634.1, NM_001288705.2 [P07333-1] NP_005202.2, NM_005211.3 [P07333-1] |
Genome annotation databases
Ensembli | ENST00000286301; ENSP00000286301; ENSG00000182578 [P07333-1] ENST00000543093; ENSP00000445282; ENSG00000182578 [P07333-2] |
GeneIDi | 1436 |
KEGGi | hsa:1436 |
UCSCi | uc003lrm.3, human [P07333-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar 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 |
CCDSi | CCDS4302.1 [P07333-1] |
PIRi | S08123, TVHUMD |
RefSeqi | NP_001275634.1, NM_001288705.2 [P07333-1] NP_005202.2, NM_005211.3 [P07333-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2I0V | X-ray | 2.80 | A | 538-678 | [»] | |
A | 753-922 | [»] | ||||
2I0Y | X-ray | 1.90 | A | 538-678 | [»] | |
A | 753-922 | [»] | ||||
2I1M | X-ray | 1.80 | A | 538-678 | [»] | |
A | 753-922 | [»] | ||||
2OGV | X-ray | 2.70 | A | 543-918 | [»] | |
3BEA | X-ray | 2.02 | A | 538-678 | [»] | |
A | 753-922 | [»] | ||||
3DPK | X-ray | 1.95 | A | 538-678 | [»] | |
A | 771-922 | [»] | ||||
3KRJ | X-ray | 2.10 | A | 538-678 | [»] | |
A | 753-922 | [»] | ||||
3KRL | X-ray | 2.40 | A | 538-678 | [»] | |
A | 753-922 | [»] | ||||
3LCD | X-ray | 2.50 | A | 538-919 | [»] | |
3LCO | X-ray | 3.40 | A | 550-919 | [»] | |
4DKD | X-ray | 3.00 | C | 20-299 | [»] | |
4HW7 | X-ray | 2.90 | A | 542-919 | [»] | |
4LIQ | X-ray | 2.60 | E | 2-512 | [»] | |
4R7H | X-ray | 2.80 | A | 542-919 | [»] | |
4R7I | X-ray | 2.75 | A | 542-919 | [»] | |
4WRL | X-ray | 2.80 | A/C | 20-296 | [»] | |
4WRM | X-ray | 6.85 | A | 20-504 | [»] | |
6IG8 | X-ray | 1.80 | A | 550-919 | [»] | |
6N33 | X-ray | 2.25 | A | 542-919 | [»] | |
6T2W | X-ray | 1.70 | A | 542-919 | [»] | |
SMRi | P07333 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 107823, 30 interactors |
DIPi | DIP-59421N |
IntActi | P07333, 31 interactors |
MINTi | P07333 |
STRINGi | 9606.ENSP00000286301 |
Chemistry databases
BindingDBi | P07333 |
ChEMBLi | CHEMBL1844 |
DrugBanki | DB07167, 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 DB12147, Erdafitinib DB12010, Fostamatinib DB00619, Imatinib DB12978, Pexidartinib DB01268, Sunitinib |
DrugCentrali | P07333 |
GuidetoPHARMACOLOGYi | 1806 |
PTM databases
GlyConnecti | 1955, 14 N-Linked glycans (3 sites) |
GlyGeni | P07333, 12 sites |
iPTMneti | P07333 |
PhosphoSitePlusi | P07333 |
Polymorphism and mutation databases
BioMutai | CSF1R |
DMDMi | 547770 |
Proteomic databases
EPDi | P07333 |
jPOSTi | P07333 |
MassIVEi | P07333 |
PaxDbi | P07333 |
PeptideAtlasi | P07333 |
PRIDEi | P07333 |
ProteomicsDBi | 51993 [P07333-1] 5930 |
Protocols and materials databases
ABCDi | P07333, 61 sequenced antibodies |
Antibodypediai | 1201, 1741 antibodies |
DNASUi | 1436 |
Genome annotation databases
Ensembli | ENST00000286301; ENSP00000286301; ENSG00000182578 [P07333-1] ENST00000543093; ENSP00000445282; ENSG00000182578 [P07333-2] |
GeneIDi | 1436 |
KEGGi | hsa:1436 |
UCSCi | uc003lrm.3, human [P07333-1] |
Organism-specific databases
CTDi | 1436 |
DisGeNETi | 1436 |
EuPathDBi | HostDB:ENSG00000182578.13 |
GeneCardsi | CSF1R |
GeneReviewsi | CSF1R |
HGNCi | HGNC:2433, CSF1R |
HPAi | ENSG00000182578, Tissue enhanced (blood, lymphoid tissue) |
MalaCardsi | CSF1R |
MIMi | 164770, gene 221820, phenotype 618476, phenotype |
neXtProti | NX_P07333 |
OpenTargetsi | ENSG00000182578 |
Orphaneti | 556985, Early-onset calcifying leukoencephalopathy-skeletal dysplasia 313808, Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia |
PharmGKBi | PA26936 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0200, Eukaryota |
GeneTreei | ENSGT00940000155506 |
HOGENOMi | CLU_000288_49_0_1 |
InParanoidi | P07333 |
OMAi | TFQQICF |
OrthoDBi | 236292at2759 |
PhylomeDBi | P07333 |
TreeFami | TF325768 |
Enzyme and pathway databases
BRENDAi | 2.7.10.1, 2681 |
PathwayCommonsi | P07333 |
Reactomei | R-HSA-449836, Other interleukin signaling R-HSA-8853884, Transcriptional Regulation by VENTX |
SignaLinki | P07333 |
SIGNORi | P07333 |
Miscellaneous databases
BioGRID-ORCSi | 1436, 3 hits in 874 CRISPR screens |
ChiTaRSi | CSF1R, human |
EvolutionaryTracei | P07333 |
GeneWikii | Colony_stimulating_factor_1_receptor |
GenomeRNAii | 1436 |
Pharosi | P07333, Tclin |
PROi | PR:P07333 |
RNActi | P07333, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000182578, Expressed in spleen and 218 other tissues |
ExpressionAtlasi | P07333, baseline and differential |
Genevisiblei | P07333, HS |
Family and domain databases
Gene3Di | 2.60.40.10, 5 hits |
InterProi | View 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 |
Pfami | View protein in Pfam PF00047, ig, 1 hit PF07714, PK_Tyr_Ser-Thr, 1 hit |
PIRSFi | PIRSF500947, CSF-1_receptor, 1 hit |
SMARTi | View protein in SMART SM00409, IG, 5 hits SM00408, IGc2, 2 hits SM00219, TyrKc, 1 hit |
SUPFAMi | SSF48726, SSF48726, 5 hits SSF56112, SSF56112, 1 hit |
PROSITEi | View 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 |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CSF1R_HUMAN | |
Accessioni | P07333Primary (citable) accession number: P07333 Secondary accession number(s): B5A955 Q86VW7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 1, 1988 |
Last sequence update: | June 1, 1994 | |
Last modified: | December 2, 2020 | |
This is version 228 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Reference proteomeDocuments
- Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human and mouse protein kinases
Human and mouse protein kinases: classification and index - Human cell differentiation molecules
CD nomenclature of surface proteins of human leucocytes and list of entries