|Other Names||Fibroblast growth factor receptor 1, FGFR-1, Basic fibroblast growth factor receptor 1, BFGFR, bFGF-R-1, Fms-like tyrosine kinase 2, FLT-2, N-sam, Proto-oncogene c-Fgr, CD331, FGFR1, BFGFR, CEK, FGFBR, FLG, FLT2, HBGFR|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Synonyms||BFGFR, CEK, FGFBR, FLG, FLT2, HBGFR|
|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.|
|Cellular Location||Cell membrane; Single-pass type I membrane protein. Nucleus. Cytoplasm, cytosol. Cytoplasmic vesicle Note=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|
|Tissue Location||Detected in astrocytoma, neuroblastoma and adrenal cortex cell lines. Some isoforms are detected in foreskin fibroblast cell lines, however isoform 17, isoform 18 and isoform 19 are not detected in these cells.|
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The protein encoded by this gene is a member of thefibroblast growth factor receptor (FGFR) family, where amino acidsequence is highly conserved between members and throughoutevolution. FGFR family members differ from one another in theirligand affinities and tissue distribution. A full-lengthrepresentative protein consists of an extracellular region,composed of three immunoglobulin-like domains, a single hydrophobicmembrane-spanning segment and a cytoplasmic tyrosine kinase domain.The extracellular portion of the protein interacts with fibroblastgrowth factors, setting in motion a cascade of downstream signals,ultimately influencing mitogenesis and differentiation. Thisparticular family member binds both acidic and basic fibroblastgrowth factors and is involved in limb induction. Mutations in thisgene have been associated with Pfeiffer syndrome, Jackson-Weisssyndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, andautosomal dominant Kallmann syndrome 2. Chromosomal aberrationsinvolving this gene are associated with stem cellmyeloproliferative disorder and stem cell leukemia lymphomasyndrome. Alternatively spliced variants which encode differentprotein isoforms have been described; however, not all variantshave been fully characterized.
Kaess, B.M., et al. Eur. J. Hum. Genet. 18(12):1344-1348(2010)Browaeys-Poly, E., et al. FEBS Lett. 584(21):4383-4388(2010)Nikopensius, T., et al. Birth Defects Res. Part A Clin. Mol. Teratol. 88(9):748-756(2010)Kamura, S., et al. Br. J. Cancer 103(3):370-381(2010)Jugessur, A., et al. PLoS ONE 5 (7), E11493 (2010) :
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