FGFR1 iso2: 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: EC 2.7.10.1; FGFR family; Kinase, protein; Membrane protein, integral; Oncoprotein; Protein kinase, TK; Protein kinase, tyrosine (receptor); TK group
Chromosomal Location of Human Ortholog: 16q12.4
Cellular Component: cytoplasm; cytoplasmic vesicle; cytosol; integral component of membrane; nucleolus; nucleus; perinuclear region of cytoplasm; plasma membrane; receptor complex
Molecular Function: ATP binding; cell adhesion molecule binding; fibroblast growth factor binding; fibroblast growth factor-activated receptor activity; heparin binding; identical protein binding; protein binding; protein complex binding; protein homodimerization activity; protein tyrosine kinase activity; receptor binding
Biological Process: angiogenesis; auditory receptor cell development; blood vessel morphogenesis; brain development; cell maturation; cellular response to histamine; central nervous system neuron development; chondrocyte differentiation; embryonic limb morphogenesis; female pregnancy; 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 fibroblast growth factor production; negative regulation of gene expression; negative regulation of osteoblast differentiation; negative regulation of transcription from RNA polymerase II promoter; neuron projection development; orbitofrontal cortex development; outer ear morphogenesis; paraxial mesoderm development; peptidyl-tyrosine phosphorylation; positive regulation of cardiac muscle cell proliferation; positive regulation of cell cycle; positive regulation of cell proliferation; positive regulation of endothelial cell chemotaxis to fibroblast growth factor; positive regulation of fibroblast migration; positive regulation of MAP kinase activity; positive regulation of MAPK cascade; positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway; positive regulation of mesenchymal cell proliferation; positive regulation of neuron differentiation; positive regulation of neuron projection development; positive regulation of parathyroid hormone secretion; positive regulation of phospholipase C activity; positive regulation of transcription from RNA polymerase II promoter; protein autophosphorylation; regulation of cell proliferation; regulation of extrinsic apoptotic signaling pathway in absence of ligand; regulation of gene expression; regulation of lateral mesodermal cell fate specification; regulation of phosphorus metabolic process; regulation of sensory perception of pain; regulation of stem cell proliferation; response to nutrient levels; salivary gland morphogenesis; sensory perception of sound; stem cell maintenance; ureteric bud development; vacuolar phosphate transport; ventricular zone neuroblast division; wound healing
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