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FGFR1

The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
Full Name
Fibroblast Growth Factor Receptor 1
Function
Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of embryonic development, cell proliferation, differentiation and migration. Required for normal mesoderm patterning and correct axial organization during embryonic development, normal skeletogenesis and normal development of the gonadotropin-releasing hormone (GnRH) neuronal system. Phosphorylates PLCG1, FRS2, GAB1 and SHB. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Promotes phosphorylation of SHC1, STAT1 and PTPN11/SHP2. In the nucleus, enhances RPS6KA1 and CREB1 activity and contributes to the regulation of transcription. FGFR1 signaling is down-regulated by IL17RD/SEF, and by FGFR1 ubiquitination, internalization and degradation.
Biological Process
Cell migration Source: UniProtKB
Chordate embryonic development Source: UniProtKB
Epithelial to mesenchymal transition Source: BHF-UCL
Fibroblast growth factor receptor signaling pathway Source: UniProtKB
MAPK cascade Source: ProtInc
Neuron migration Source: UniProtKB
Peptidyl-tyrosine phosphorylation Source: UniProtKB
Phosphatidylinositol-mediated signaling Source: UniProtKB
Positive regulation of blood vessel endothelial cell migration Source: BHF-UCL
Positive regulation of cell differentiation Source: GO_Central
Positive regulation of cell population proliferation Source: UniProtKB
Positive regulation of endothelial cell chemotaxis to fibroblast growth factor Source: BHF-UCL
Positive regulation of kinase activity Source: GO_Central
Positive regulation of MAPK cascade Source: UniProtKB
Positive regulation of MAP kinase activity Source: UniProtKB
Positive regulation of neuron differentiation Source: UniProtKB
Positive regulation of phosphatidylinositol 3-kinase signaling Source: UniProtKB
Positive regulation of phospholipase activity Source: UniProtKB
Positive regulation of phospholipase C activity Source: UniProtKB
Positive regulation of protein kinase B signaling Source: BHF-UCL
Positive regulation of vascular endothelial cell proliferation Source: BHF-UCL
Protein autophosphorylation Source: UniProtKB
Protein phosphorylation Source: UniProtKB
Regulation of cell differentiation Source: UniProtKB
Regulation of extrinsic apoptotic signaling pathway in absence of ligand Source: BHF-UCL
Skeletal system development Source: ProtInc
Skeletal system morphogenesis Source: UniProtKB
Transmembrane receptor protein tyrosine kinase signaling pathway Source: GO_Central
Cellular Location
Cell membrane; Nucleus; Cytosol; Cytoplasmic vesicle. After ligand binding, both receptor and ligand are rapidly internalized. Can translocate to the nucleus after internalization, or by translocation from the endoplasmic reticulum or Golgi apparatus to the cytosol, and from there to the nucleus.
Involvement in disease
Pfeiffer syndrome (PS):
A syndrome characterized by the association of craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly of the fingers and toes. Three subtypes are known: mild autosomal dominant form (type 1); cloverleaf skull, elbow ankylosis, early death, sporadic (type 2); craniosynostosis, early demise, sporadic (type 3).
Hypogonadotropic hypogonadism 2 with or without anosmia (HH2):
The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. Some patients carrying mutations in FGFR1 also have a mutation other HH-associated genes including DUSP6, FGF8, FGF17, FLRT3, GNRH1, GNRHR, HS6ST1, IL17RD, ANOS1, KISS1R, NSMF, PROKR2, SPRY4 and TACR3 (PubMed:23643382). A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
Osteoglophonic dysplasia (OGD):
Characterized by craniosynostosis, prominent supraorbital ridge, and depressed nasal bridge, as well as by rhizomelic dwarfism and nonossifying bone lesions. Inheritance is autosomal dominant.
Hartsfield syndrome (HRTFDS):
A syndrome characterized by the triad of holoprosencephaly, ectrodactyly, and cleft/lip palate. Profound mental retardation is also present. Multiple other congenital anomalies usually occur.
Trigonocephaly 1 (TRIGNO1):
A keel-shaped deformation of the forehead, caused by premature fusion of the metopic sutures. It results in a triangular shape of the head. Chromosomal aberrations involving FGFR1 are a cause of chromosome 8p11 myeloproliferative syndrome. Translocation t(8;13)(p11;q12) with ZMYM2. Translocation t(6;8)(q27;p11) with CEP43. Insertion ins(12;8)(p11;p11p22) with FGFR1OP2. Translocation t(8;9)(p12;q33) with CNTRL. Translocation t(2;8)(q12;p11) with RANBP2. Chromosome 8p11 myeloproliferative syndrome is characterized by myeloid hyperplasia, eosinophilia and T-cell or B-cell lymphoblastic lymphoma. In general it progresses to acute myeloid leukemia. The fusion proteins FGFR1OP2-FGFR1, CEP43-FGFR1 or FGFR1-CEP43 may exhibit constitutive kinase activity and be responsible for the transforming activity. The fusion protein CNTRL-FGFR1 is found in the cytoplasm, exhibits constitutive kinase activity and may be responsible for the transforming activity.
Encephalocraniocutaneous lipomatosis (ECCL):
A sporadically occurring, neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system anomalies. Clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, intracranial and intraspinal lipomas, and congenital abnormalities of the meninges. Seizures, spasticity, and intellectual disability can be present.
Jackson-Weiss syndrome (JWS):
An autosomal dominant craniosynostosis syndrome characterized by craniofacial abnormalities and abnormality of the feet: broad great toes with medial deviation and tarsal-metatarsal coalescence.
Topology
Extracellular: 22-376
Helical: 377-397
Cytoplasmic: 398-822
PTM
Autophosphorylated. Binding of FGF family members together with heparan sulfate proteoglycan or heparin promotes receptor dimerization and autophosphorylation on tyrosine residues. Autophosphorylation occurs in trans between the two FGFR molecules present in the dimer and proceeds in a highly ordered manner. Initial autophosphorylation at Tyr-653 increases the kinase activity by a factor of 50 to 100. After this, Tyr-583 becomes phosphorylated, followed by phosphorylation of Tyr-463, Tyr-766, Tyr-583 and Tyr-585. In a third stage, Tyr-654 is autophosphorylated, resulting in a further tenfold increase of kinase activity. Phosphotyrosine residues provide docking sites for interacting proteins and so are crucial for FGFR1 function and its regulation.
Ubiquitinated. FGFR1 is rapidly ubiquitinated by NEDD4 after autophosphorylation, leading to internalization and lysosomal degradation. CBL is recruited to activated FGFR1 via FRS2 and GRB2, and mediates ubiquitination and subsequent degradation of FGFR1.
N-glycosylated in the endoplasmic reticulum. The N-glycan chains undergo further maturation to an Endo H-resistant form in the Golgi apparatus.

Anti-FGFR1 antibodies

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Target: FGFR1 (phospho Y653)
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human, Mouse
Clone: BA0355
Application*: WB, P
Target: FGFR1
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: BA0345
Application*: IF, WB
Target: FGFR1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse
Clone: M5G10
Application*: F, IF, P, IP, WB
Target: FGFR1 (phospho Y653 and Y654)
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: BA0399
Application*: WB, P
Target: FGFR1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBXF-1674
Application*: N, WB
Target: FGFR1
Host: Mouse
Antibody Isotype: IgM
Specificity: Cattle, Chicken, Human, Mouse, Rat
Clone: CBXF-1453
Application*: E, IH, IP, WB
Target: FGFR1
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: CBXF-2988
Application*: E, WB
Target: FGFR1
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: CBXF-1874
Application*: P
Target: FGFR1
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human, Mouse, Rat
Clone: CBXF-0595
Application*: P, IP, WB
Target: FGFR1
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human, Mouse, Rat
Clone: CBXF-0593
Application*: C, P, IP, WB
Target: FGFR1
Host: Mouse
Antibody Isotype: IgM
Specificity: Human
Clone: VBS1
Application*: E, C, P, IP, WB
Target: FGFR1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: M19B2
Application*: P, IP, WB
Target: FGFR1
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: 6F8
Application*: WB
Target: FGFR1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBXF-0608
Application*: IP, WB
Target: FGFR1
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: CBXF-0606
Application*: C, P, IP, WB
Target: FGFR1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBXF-0605
Application*: F, IP, WB
Target: FGFR1
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human, Rat
Clone: M2F12
Application*: E, IH, IP, WB
Target: FGFR1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Cattle, Chicken, Guinea pig, Human, Mouse, Rat
Clone: VBS-7
Application*: E, F, P, IP, WB
Target: FGFR1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: 6F10
Application*: N, WB
Target: FGFR1
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: 3D4F7
Application*: E, WB
Target: FGFR1
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human, Mouse, Rat, Monkey
Clone: CBXF-0601
Application*: WB, IP, P, IF, F
Target: FGFR1
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human, Mouse, Rat
Clone: CBXF-0600
Application*: WB, P, IP
Target: FGFR1
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human, Mouse, Rat
Clone: CBXF-0597
Application*: WB, P, C, IP
Target: FGFR1
Host: Rabbit
Antibody Isotype: IgG
Specificity: Mouse
Clone: CBXF-1374
Application*: E, WB
Target: FGFR1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: CBXF-3502
Application*: E, WB, IF
Target: FGFR1
Host: Mouse
Antibody Isotype: IgG2c
Specificity: Human, Mouse
Clone: CBXF-1908
Application*: E, WB, IH, F
Target: FGFR1
Host: Mouse
Antibody Isotype: IgM
Specificity: Cattle
Clone: CBXF-0602
Application*: E, IH, IP, WB
Target: FGFR1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBXF-3314
Application*: WB, N
Target: FGFR1
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: CBXF-3313
Application*: WB
Target: FGFR1
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: CBYY-1028
Application*: E, WB
Target: FGFR1
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: CBYY-1027
Application*: P
Target: FGFR1
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: CAP762
Application*: ICC, IHC, IP, WB
Target: FGFR1
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: CAP761
Application*: ICC, IHC, IP, WB
Target: FGFR1
Host: Mouse
Antibody Isotype: IgG2c
Specificity: Human, Mouse
Clone: 520
Application*: ELISA, IHC, WB
Target: FGFR1
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: CF168
Application*: ELISA, WB, IHC, FC
Target: FGFR1
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: 3D4F7
Application*: WB
Target: FGFR1
Host: Mouse
Antibody Isotype: IgG2b, κ
Specificity: Human
Clone: 2E12
Application*: WB, E
Target: FGFR1
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: 5E9
Application*: WB, E
For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
IFImmunofluorescence
IHImmunohistochemistry
IPImmunoprecipitation
WBWestern Blot
EELISA
MMicroarray
CIChromatin Immunoprecipitation
FFlow Cytometry
FNFunction Assay
IDImmunodiffusion
RRadioimmunoassay
TCTissue Culture
GSGel Supershift
NNeutralization
BBlocking
AActivation
IInhibition
DDepletion
ESELISpot
DBDot Blot
MCMass Cytometry/CyTOF
CTCytotoxicity
SStimulation
AGAgonist
APApoptosis
IMImmunomicroscopy
BABioassay
CSCostimulation
EMElectron Microscopy
IEImmunoelectrophoresis
PAPeptide Array
ICImmunocytochemistry
PEPeptide ELISA
MDMeDIP
SHIn situ hybridization
IAEnzyme Immunoassay
SEsandwich ELISA
PLProximity Ligation Assay
ECELISA(Cap)
EDELISA(Det)
BIBioimaging
IOImmunoassay
LFLateral Flow Immunoassay
LALuminex Assay
CImmunohistochemistry-Frozen Sections
PImmunohistologyp-Paraffin Sections
ISIntracellular Staining for Flow Cytometry
MSElectrophoretic Mobility Shift Assay
RIRNA Binding Protein Immunoprecipitation (RIP)
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