FGFR1: a receptor tyrosine kinase of the highly-conserved fibroblast growth factor receptor (FGFR). Binds both acidic and basic fibroblast growth factors and is involved in limb induction. Point mutations cause Pfeffer syndrome (finger and toe malformations and other skeletal errors) and dominant Kallmann syndrome 2. Stem cell leukemia lymphoma syndrome (SCLL) may be caused by a t(8;13)(p12;q12) translocation that fuses a zinc finger gene, ZNF198, to FGFR1. Various myeloproliferative disorders have been linked to translocations that fuse FGFR1 to FOP, FIM, CEP1 or the atypical kinase, Bcr. Inhibitor: SU5402. 20 isoforms of the human protein produced by alternative splicing have been described.
Protein type: Membrane protein, integral; Oncoprotein; Protein kinase, tyrosine (receptor); Kinase, protein; Protein kinase, TK; EC 2.7.10.1; TK group; FGFR family
Cellular Component: cytoplasm; cytoplasmic vesicle; integral to membrane; membrane; nucleus; perinuclear region of cytoplasm; plasma membrane; receptor complex
Molecular Function: ATP binding; cell adhesion molecule binding; fibroblast growth factor binding; fibroblast growth factor receptor activity; glycoprotein binding; heparin binding; identical protein binding; kinase activity; nucleotide binding; protein binding; protein complex binding; protein homodimerization activity; protein kinase activity; protein-tyrosine kinase activity; transferase activity; transmembrane receptor protein tyrosine kinase activity
Biological Process: angiogenesis; auditory receptor cell development; blood vessel morphogenesis; brain development; cell maturation; central nervous system neuron development; chondrocyte differentiation; embryonic limb morphogenesis; fibroblast growth factor receptor signaling pathway; generation of neurons; in utero embryonic development; induction of an organ; inner ear morphogenesis; lung development; mesenchymal cell differentiation; midbrain development; middle ear morphogenesis; motogenic signaling involved in postnatal olfactory bulb interneuron migration; negative regulation of osteoblast differentiation; negative regulation of transcription from RNA polymerase II promoter; neurite development; neuroblast division in the ventricular zone; orbitofrontal cortex development; outer ear morphogenesis; paraxial mesoderm development; peptidyl-tyrosine phosphorylation; phosphorylation; positive regulation of cardiac muscle cell proliferation; positive regulation of cell cycle; positive regulation of cell proliferation; positive regulation of MAP kinase activity; positive regulation of MAPKKK cascade; positive regulation of mesenchymal cell proliferation; positive regulation of neuron differentiation; positive regulation of transcription from RNA polymerase II promoter; protein amino acid autophosphorylation; protein amino acid phosphorylation; regulation of cell proliferation; regulation of gene expression; regulation of lateral mesodermal cell fate specification; regulation of phosphorus metabolic process; regulation of sensory perception of pain; salivary gland morphogenesis; sensory perception of sound; stem cell maintenance; ureteric bud development; vacuolar phosphate transport
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