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: Protein kinase, TK; Kinase, protein; EC 188.8.131.52; Membrane protein, integral; Protein kinase, tyrosine (receptor); TK group; FGFR family
Chromosomal Location of Human Ortholog: 8p11.23-p11.22
Cellular Component: integral to plasma membrane; cytoplasmic membrane-bound vesicle; extracellular region; integral to membrane; plasma membrane; cytosol; nucleus; receptor complex
Molecular Function: heparin binding; identical protein binding; protein binding; protein homodimerization activity; fibroblast growth factor binding; 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; positive regulation of mesenchymal cell proliferation; positive regulation of cell proliferation; midbrain development; chondrocyte differentiation; angiogenesis; skeletal development; embryonic limb morphogenesis; positive regulation of cardiac muscle cell proliferation; epidermal growth factor receptor signaling pathway; inner ear morphogenesis; cell migration; phosphoinositide-mediated signaling; fibroblast growth factor receptor signaling pathway; chordate embryonic development; transcription, DNA-dependent; in utero embryonic development; outer ear morphogenesis; MAPKKK cascade; positive regulation of cell cycle; neuroblast division in the ventricular zone; positive regulation of phosphoinositide 3-kinase cascade; mesenchymal cell differentiation; skeletal morphogenesis; insulin receptor signaling pathway; auditory receptor cell development; innate immune response; 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.