Protein name:
Macrophage colony-stimulating factor 1 receptor (CSF-1-R) ;
Alternative:
Proto-oncogene c-Fms ;2.7.10.1;Proto-oncogene c-Fms (CSF-1-R) ;
CD:
CD115 ;
Organism:
Human (Homo sapiens).
General Annotation
Sub Unit:
Interacts with INPPL1/SHIP2 and THOC5.
Function:
Protein tyrosine-kinase transmembrane receptor for CSF1 and IL34.
Subcellular Location:
Membrane
Single-pass type I membrane protein
Protein Attributes:
50:
MGPGVLLLLL | VATAWHGQGI | PVIEPSVPEL | VVKPGATVTL | RCVGNGSVEW |
100:
DGPPSPHWTL | YSDGSSSILS | TNNATFQNTG | TYRCTEPGDP | LGGSAAIHLY |
150:
VKDPARPWNV | LAQEVVVFED | QDALLPCLLT | DPVLEAGVSL | VRVRGRPLMR |
200:
HTNYSFSPWH | GFTIHRAKFI | QSQDYQCSAL | MGGRKVMSIS | IRLKVQKVIP |
250:
GPPALTLVPA | ELVRIRGEAA | QIVCSASSVD | VNFDVFLQHN | NTKLAIPQQS |
300:
DFHNNRYQKV | LTLNLDQVDF | QHAGNYSCVA | SNVQGKHSTS | MFFRVVESAY |
350:
LNLSSEQNLI | QEVTVGEGLN | LKVMVEAYPG | LQGFNWTYLG | PFSDHQPEPK |
400:
LANATTKDTY | RHTFTLSLPR | LKPSEAGRYS | FLARNPGGWR | ALTFELTLRY |
450:
PPEVSVIWTF | INGSGTLLCA | ASGYPQPNVT | WLQCSGHTDR | CDEAQVLQVW |
500:
DDPYPEVLSQ | EPFHKVTVQS | LLTVETLEHN | QTYECRAHNS | VGSGSWAFIP |
550:
ISAGAHTHPP | DEFLFTPVVV | ACMSIMALLL | LLLLLLLYKY | KQKPKYQVRW |
600:
KIIESYEGNS | YTFIDPTQLP | YNEKWEFPRN | NLQFGKTLGA | GAFGKVVEAT |
650:
AFGLGKEDAV | LKVAVKMLKS | TAHADEKEAL | MSELKIMSHL | GQHENIVNLL |
700:
GACTHGGPVL | VITEYCCYGD | LLNFLRRKAE | AMLGPSLSPG | QDPEGGVDYK |
750:
NIHLEKKYVR | RDSGFSSQGV | DTYVEMRPVS | TSSNDSFSEQ | DLDKEDGRPL |
800:
ELRDLLHFSS | QVAQGMAFLA | SKNCIHRDVA | ARNVLLTNGH | VAKIGDFGLA |
850:
RDIMNDSNYI | VKGNARLPVK | WMAPESIFDC | VYTVQSDVWS | YGILLWEIFS |
900:
LGLNPYPGIL | VNSKFYKLVK | DGYQMAQPAF | APKNIYSIMQ | ACWALEPTHR |
950:
PTFQQICSFL | QEQAQEDRRE | RDYTNLPSSS | RSGGSGSSSS | ELEEESSSEH |
972:
LTCCEQGDIA | QPLLQPNNYQ | FC
Vaild Sequence:
Related Databases
Uniprot:
ELISA Kit
CLIA Kit
Polyclonal Antibody
Monoclonal Antibody
Protein
FOR
Human
Mouse
Rat
ELISA Kit for Human CSF-1-R
ELISA Kit for Human CSF-1-R
ELISA Kit for Human CSF-1-R
CLIA Kit for Human CSF-1-R
CLIA Kit for Human CSF-1-R
CLIA Kit for Human CSF-1-R
Polyclonal Antibody for Human CSF-1-R
Polyclonal Antibody for Human CSF-1-R
Polyclonal Antibody for Human CSF-1-R
Monoclonal Antibody for Human CSF-1-R
Monoclonal Antibody for Human CSF-1-R
Monoclonal Antibody for Human CSF-1-R
Protein for Human CSF-1-R
Protein for Human CSF-1-R
Protein for Human CSF-1-R
R&D Technical Data
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Precision
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Recovery
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Linearity
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References
1.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [GENOMIC DNA]
2.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)
3.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [GENOMIC DNA]
tissue :
Placenta .
4.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2)
5.
"The DNA sequence and comparative analysis of human chromosome 5."
Schmutz J.
,
Martin J.
,
Terry A.
,
Couronne O.
,
Grimwood J.
,
Lowry S.
,
Gordon L.A.
,
Scott D.
,
Xie G.
,
Huang W.
,
Hellsten U.
,
Tran-Gyamfi M.
,
She X.
,
Prabhakar S.
,
Aerts A.
,
Altherr M.
,
Bajorek E.
,
Black S.
,
Branscomb E.
,
Caoile C.
,
Challacombe J.F.
,
Chan Y.M.
,
Denys M.
,
Detter J.C.
,
Escobar J.
,
Flowers D.
,
Fotopulos D.
,
Glavina T.
,
Gomez M.
,
Gonzales E.
,
Goodstein D.
,
Grigoriev I.
,
Groza M.
,
Hammon N.
,
Hawkins T.
,
Haydu L.
,
Israni S.
,
Jett J.
,
Kadner K.
,
Kimball H.
,
Kobayashi A.
,
Lopez F.
,
Lou Y.
,
Martinez D.
,
Medina C.
,
Morgan J.
,
Nandkeshwar R.
,
Noonan J.P.
,
Pitluck S.
,
Pollard M.
,
Predki P.
,
Priest J.
,
Ramirez L.
,
Retterer J.
,
Rodriguez A.
,
Rogers S.
,
Salamov A.
,
Salazar A.
,
Thayer N.
,
Tice H.
,
Tsai M.
,
Ustaszewska A.
,
Vo N.
,
Wheeler J.
,
Wu K.
,
Yang J.
,
Dickson M.
,
Cheng J.-F.
,
Eichler E.E.
,
Olsen A.
,
Pennacchio L.A.
,
Rokhsar D.S.
,
Richardson P.
,
Lucas S.M.
,
Myers R.M.
,
Rubin E.M.
more...
Nature431:268-274(2004)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
6.
Mural R.J.
,
Istrail S.
,
Sutton G.G.
,
Florea L.
,
Halpern A.L.
,
Mobarry C.M.
,
Lippert R.
,
Walenz B.
,
Shatkay H.
,
Dew I.
,
Miller J.R.
,
Flanigan M.J.
,
Edwards N.J.
,
Bolanos R.
,
Fasulo D.
,
Halldorsson B.V.
,
Hannenhalli S.
,
Turner R.
,
Yooseph S.
,
Lu F.
,
Nusskern D.R.
,
Shue B.C.
,
Zheng X.H.
,
Zhong F.
,
Delcher A.L.
,
Huson D.H.
,
Kravitz S.A.
,
Mouchard L.
,
Reinert K.
,
Remington K.A.
,
Clark A.G.
,
Waterman M.S.
,
Eichler E.E.
,
Adams M.D.
,
Hunkapiller M.W.
,
Myers E.W.
,
Venter J.C.
more...
Submitted (2005-09) to the EMBL/GenBank/DDBJ databases
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
7.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)
tissue :
Brain .
8.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-16
9.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-16
10.
"Expression of a novel exon in the 5' UTR of human c-fms transcripts."
Flick M.B.
,
Sapi E.
,
Kacinski B.M.
Submitted (1996-11) to the EMBL/GenBank/DDBJ databases
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-16
tissue :
Placenta .
11.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 244-295
12.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [MRNA] OF 874-972 (ISOFORM 1)
13.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : FUNCTION IN CELL PROLIFERATION
14.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : INTERACTION WITH SRC; FYN AND YES1;MUTAGENESIS OF TYR-809
15.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : INDUCTION BY GLUCOCORTICOIDS
16.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : MUTAGENESIS OF TYR-708 AND ASP-802
17.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : FUNCTION IN CELLULAR SIGNALING; PHOSPHORYLATION OF INPP5D AND ACTIVATION OF AKT1
18.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : FUNCTION IN REGULATION OF CELL PROLIFERATION; CELL ADHESION; CELL SHAPE AND INTEGRITY OF CELL JUNCTIONS;MUTAGENESIS OF LEU-301 AND TYR-969;ROLE IN DISEASE
19.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-302 AND ASN-353
tissue :
Plasma .
20.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : FUNCTION AS CSF1 RECEPTOR;CATALYTIC ACTIVITY;AUTOPHOSPHORYLATION;ROLE IN DISEASE;ENZYME REGULATION
21.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : FUNCTION IN CELL PROLIFERATION;CATALYTIC ACTIVITY;AUTOPHOSPHORYLATION;ROLE IN DISEASE;ENZYME REGULATION
22.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : FUNCTION IN REGULATION OF CELL PROLIFERATION AND CELL SHAPE;CATALYTIC ACTIVITY;UBIQUITINATION;ENZYME REGULATION;MUTAGENESIS OF ASP-802
23.
"Discovery of a cytokine and its receptor by functional screening of the extracellular proteome."
Lin H.
,
Lee E.
,
Hestir K.
,
Leo C.
,
Huang M.
,
Bosch E.
,
Halenbeck R.
,
Wu G.
,
Zhou A.
,
Behrens D.
,
Hollenbaugh D.
,
Linnemann T.
,
Qin M.
,
Wong J.
,
Chu K.
,
Doberstein S.K.
,
Williams L.T.
Science320:807-811(2008)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : FUNCTION AS IL34 RECEPTOR
24.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : ROLE IN DISEASE;ENZYME REGULATION
25.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : ROLE IN DISEASE
26.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-699 AND SER-713;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
27.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : AUTOPHOSPHORYLATION;ENZYME REGULATION
28.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : FUNCTION AS RECEPTOR FOR IL34 AND CSF1;PHOSPHORYLATION AT TYR-546; TYR-699; TYR-708; TYR-723 AND TYR-809;AUTOPHOSPHORYLATION;ENZYME REGULATION;INTERACTION WITH IL34 AND CSF1
29.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : FUNCTION IN RELEASE OF PROINFLAMMATORY CHEMOKINES
30.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : FUNCTION AS IL34 AND CSF1 RECEPTOR; ACTIVATION OF MAPK1/ERK2; MAPK3/ERK1; PHOSPHORYLATION AT TYR-723;AUTOPHOSPHORYLATION
31.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : REVIEW ON FUNCTION; SIGNALING PATHWAYS AND PHOSPHORYLATION
32.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : REVIEW ON FUNCTION IN IMMUNITY AND INFLAMMATION;ROLE IN DISEASE
33.
"Macrophage colony stimulating factor: not just for macrophages anymore! A gateway into complex biologies."
Douglass T.G.
,
Driggers L.
,
Zhang J.G.
,
Hoa N.
,
Delgado C.
,
Williams C.C.
,
Dan Q.
,
Sanchez R.
,
Jeffes E.W.
,
Wepsic H.T.
,
Myers M.P.
,
Koths K.
,
Jadus M.R.
Int. Immunopharmacol.8:1354-1376(2008)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : REVIEW ON FUNCTION; SIGNALING PATHWAYS AND PHOSPHORYLATION
34.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : REVIEW
35.
"Crystal structure of the tyrosine kinase domain of colony-stimulating factor-1 receptor (cFMS) in complex with two inhibitors."
Schubert C.
,
Schalk-Hihi C.
,
Struble G.T.
,
Ma H.C.
,
Petrounia I.P.
,
Brandt B.
,
Deckman I.C.
,
Patch R.J.
,
Player M.R.
,
Spurlino J.C.
,
Springer B.A.
J. Biol. Chem.282:4094-4101(2007)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : X-RAY CRYSTALLOGRAPHY (1.80 ANGSTROMS) OF 538-922 IN COMPLEXES WITH ARYLAMIDE AND QUINOLONE INHIBITORS;DOMAIN
36.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : X-RAY CRYSTALLOGRAPHY (2.70 ANGSTROMS) OF 543-918 IN AUTOINHIBITED CONFORMATION;DOMAIN
37.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : X-RAY CRYSTALLOGRAPHY (2.02 ANGSTROMS) OF 538-922 IN COMPLEX WITH PYRIMIDINOPYRIDONE INHIBITOR;CATALYTIC ACTIVITY
38.
"Pyrido[2,3-d]pyrimidin-5-ones: a novel class of antiinflammatory macrophage colony-stimulating factor-1 receptor inhibitors."
Huang H.
,
Hutta D.A.
,
Rinker J.M.
,
Hu H.
,
Parsons W.H.
,
Schubert C.
,
DesJarlais R.L.
,
Crysler C.S.
,
Chaikin M.A.
,
Donatelli R.R.
,
Chen Y.
,
Cheng D.
,
Zhou Z.
,
Yurkow E.
,
Manthey C.L.
,
Player M.R.
J. Med. Chem.52:1081-1099(2009)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : X-RAY CRYSTALLOGRAPHY (1.95 ANGSTROMS) OF 538-922 IN COMPLEX WITH INHIBITOR;CATALYTIC ACTIVITY;FUNCTION IN INFLAMMATION AND DISEASE
39.
"Structure-based drug design enables conversion of a DFG-in binding CSF-1R kinase inhibitor to a DFG-out binding mode."
Meyers M.J.
,
Pelc M.
,
Kamtekar S.
,
Day J.
,
Poda G.I.
,
Hall M.K.
,
Michener M.L.
,
Reitz B.A.
,
Mathis K.J.
,
Pierce B.S.
,
Parikh M.D.
,
Mischke D.A.
,
Long S.A.
,
Parlow J.J.
,
Anderson D.R.
,
Thorarensen A.
Bioorg. Med. Chem. Lett.20:1543-1547(2010)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : X-RAY CRYSTALLOGRAPHY (2.50 ANGSTROMS) OF 538-922 IN COMPLEXES WITH INHIBITORS;CATALYTIC ACTIVITY;ENZYME REGULATION
40.
"Patterns of somatic mutation in human cancer genomes."
Greenman C.
,
Stephens P.
,
Smith R.
,
Dalgliesh G.L.
,
Hunter C.
,
Bignell G.
,
Davies H.
,
Teague J.
,
Butler A.
,
Stevens C.
,
Edkins S.
,
O'Meara S.
,
Vastrik I.
,
Schmidt E.E.
,
Avis T.
,
Barthorpe S.
,
Bhamra G.
,
Buck G.
,
Choudhury B.
,
Clements J.
,
Cole J.
,
Dicks E.
,
Forbes S.
,
Gray K.
,
Halliday K.
,
Harrison R.
,
Hills K.
,
Hinton J.
,
Jenkinson A.
,
Jones D.
,
Menzies A.
,
Mironenko T.
,
Perry J.
,
Raine K.
,
Richardson D.
,
Shepherd R.
,
Small A.
,
Tofts C.
,
Varian J.
,
Webb T.
,
West S.
,
Widaa S.
,
Yates A.
,
Cahill D.P.
,
Louis D.N.
,
Goldstraw P.
,
Nicholson A.G.
,
Brasseur F.
,
Looijenga L.
,
Weber B.L.
,
Chiew Y.-E.
,
DeFazio A.
,
Greaves M.F.
,
Green A.R.
,
Campbell P.
,
Birney E.
,
Easton D.F.
,
Chenevix-Trench G.
,
Tan M.-H.
,
Khoo S.K.
,
Teh B.T.
,
Yuen S.T.
,
Leung S.Y.
,
Wooster R.
,
Futreal P.A.
,
Stratton M.R.
more...
Nature446:153-158(2007)
[
PubMed ]
[
Europe PMC ]
[
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Cited for : VARIANTS [LARGE SCALE ANALYSIS] GLY-32; ARG-362; SER-413; VAL-536; HIS-693; ASP-920 AND GLN-921
41.
"Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids."
Rademakers R.
,
Baker M.
,
Nicholson A.M.
,
Rutherford N.J.
,
Finch N.
,
Soto-Ortolaza A.
,
Lash J.
,
Wider C.
,
Wojtas A.
,
DeJesus-Hernandez M.
,
Adamson J.
,
Kouri N.
,
Sundal C.
,
Shuster E.A.
,
Aasly J.
,
MacKenzie J.
,
Roeber S.
,
Kretzschmar H.A.
,
Boeve B.F.
,
Knopman D.S.
,
Petersen R.C.
,
Cairns N.J.
,
Ghetti B.
,
Spina S.
,
Garbern J.
,
Tselis A.C.
,
Uitti R.
,
Das P.
,
Van Gerpen J.A.
,
Meschia J.F.
,
Levy S.
,
Broderick D.F.
,
Graff-Radford N.
,
Ross O.A.
,
Miller B.B.
,
Swerdlow R.H.
,
Dickson D.W.
,
Wszolek Z.K.
more...
Nat. Genet.44:200-205(2012)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
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Cited for : VARIANTS HDLS 774-CYS--ASN-814 DEL; 585-GLY--LYS-619 DELINS ALA; GLU-589; LYS-633; THR-766; PRO-770; ASN-775; THR-794; TYR-837; SER-849; PHE-849 DEL; PRO-868; THR-875 AND THR-878;VARIANTS HIS-710; ARG-747 AND ASP-920;CHARACTERIZATION OF VARIANTS HDLS LYS-633; THR-766 AND THR-875