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. 18 isoforms of the human protein produced by alternative splicing have been described. Note: This description may include information from UniProtKB.
Protein type: Kinase, protein; EC 188.8.131.52; Protein kinase, tyrosine (receptor); Protein kinase, TK; Membrane protein, integral; TK group; FGFR family
Chromosomal Location of Human Ortholog: 8p11.23-p11.22
Cellular Component: integral to plasma membrane; cytoplasmic membrane-bound vesicle; integral to membrane; plasma membrane; extracellular region; cytosol; nucleus; receptor complex
Molecular Function: heparin binding; identical protein binding; protein binding; fibroblast growth factor binding; protein homodimerization activity; fibroblast growth factor receptor activity; protein-tyrosine kinase activity; ATP binding
Biological Process: paraxial mesoderm development; axon guidance; peptidyl-tyrosine phosphorylation; nerve growth factor receptor signaling pathway; protein amino acid autophosphorylation; cell maturation; neuron migration; middle ear morphogenesis; negative regulation of transcription from RNA polymerase II promoter; protein amino acid phosphorylation; positive regulation of MAP kinase activity; sensory perception of sound; positive regulation of MAPKKK cascade; ureteric bud development; regulation of cell differentiation; induction of an organ; midbrain development; positive regulation of cell proliferation; positive regulation of mesenchymal cell proliferation; chondrocyte differentiation; angiogenesis; skeletal development; positive regulation of cardiac muscle cell proliferation; embryonic limb morphogenesis; epidermal growth factor receptor signaling pathway; inner ear morphogenesis; cell migration; fibroblast growth factor receptor signaling pathway; chordate embryonic development; phosphoinositide-mediated signaling; transcription, DNA-dependent; in utero embryonic development; outer ear morphogenesis; MAPKKK cascade; positive regulation of cell cycle; positive regulation of phosphoinositide 3-kinase cascade; neuroblast division in the ventricular zone; mesenchymal cell differentiation; skeletal morphogenesis; insulin receptor signaling pathway; innate immune response; auditory receptor cell development; positive regulation of neuron differentiation; regulation of lateral mesodermal cell fate specification
SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.