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.

• GO:0001525 : angiogenesis
• GO:0060117 : auditory receptor cell development
• GO:0007411 : axon guidance
• GO:0060445 : branching involved in salivary gland morphogenesis
• GO:0048469 : cell maturation
• GO:0021954 : central nervous system neuron development
• GO:0002062 : chondrocyte differentiation
• GO:0043009 : chordate embryonic development
• GO:0030326 : embryonic limb morphogenesis
• GO:0035607 : fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development
• GO:0001701 : in utero embryonic development
• GO:0042472 : inner ear morphogenesis
• GO:0008286 : insulin receptor signaling pathway
• GO:0060484 : lung-associated mesenchyme development
• GO:0000165 : MAPK cascade
• GO:0048762 : mesenchymal cell differentiation
• GO:0030901 : midbrain development
• GO:0042474 : middle ear morphogenesis
• GO:0021837 : motogenic signaling involved in postnatal olfactory bulb interneuron migration
• GO:0043066 : negative regulation of apoptotic process
• GO:0045668 : negative regulation of osteoblast differentiation
• GO:0000122 : negative regulation of transcription from RNA polymerase II promoter
• GO:0001764 : neuron migration
• GO:0001759 : organ induction
• GO:0042473 : outer ear morphogenesis
• GO:0048339 : paraxial mesoderm development
• GO:0018108 : peptidyl-tyrosine phosphorylation
• GO:0048015 : phosphatidylinositol-mediated signaling
• GO:0060045 : positive regulation of cardiac muscle cell proliferation
• GO:0045787 : positive regulation of cell cycle
• GO:0008284 : positive regulation of cell proliferation
• GO:0043406 : positive regulation of MAP kinase activity
• GO:0090080 : positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway
• GO:0002053 : positive regulation of mesenchymal cell proliferation
• GO:0045666 : positive regulation of neuron differentiation
• GO:0010976 : positive regulation of neuron projection development
• GO:0014068 : positive regulation of phosphatidylinositol 3-kinase cascade
• GO:0010863 : positive regulation of phospholipase C activity
• GO:0046777 : protein autophosphorylation
• GO:0060665 : regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling
• GO:0048378 : regulation of lateral mesodermal cell fate specification
• GO:0051930 : regulation of sensory perception of pain
• GO:0072091 : regulation of stem cell proliferation
• GO:0007605 : sensory perception of sound
• GO:0048705 : skeletal system morphogenesis
• GO:0019827 : stem cell maintenance
• GO:0006351 : transcription, DNA-dependent
• GO:0001657 : ureteric bud development
• GO:0021847 : ventricular zone neuroblast division

Source: The Gene Ontology Consortium. Gene ontology: tool for the unification of biology. Nat. Genet.. May 2000;25(1):25-9.
World Wide Web URL: http://www.geneontology.org/

• OMIM:136350 : Pfeiffer syndrome (OMIM:101600 )
• OMIM:136350 : Jackson-Weiss syndrome (OMIM:123150 )
• OMIM:136350 : Kallmann syndrome 2 (OMIM:147950 )
• OMIM:136350 : Hypogonadotropic hypogonadism (OMIM:146110 )
• OMIM:136350 : Osteoglophonic dysplasia (OMIM:166250 )
• OMIM:136350 : Trigonocephaly 1 (OMIM:190440 )

Source: Online Mendelian Inheritance in Man, OMIM®. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD), May, 2012.
World Wide Web URL: http://omim.org/