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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. Note: This description may include information from UniProtKB.
Protein type: EC; FGFR family; Kinase, protein; Membrane protein, integral; Oncoprotein; Protein kinase, TK; Protein kinase, tyrosine (receptor); TK group
Chromosomal Location of Human Ortholog: 8p11.23
Cellular Component: integral to plasma membrane; nucleolus; plasma membrane; receptor complex
Molecular Function: 1-phosphatidylinositol-3-kinase activity; fibroblast growth factor binding; fibroblast growth factor receptor activity; heparin binding; identical protein binding; phosphatidylinositol-4,5-bisphosphate 3-kinase activity; protein binding; protein homodimerization activity; protein-tyrosine kinase activity; Ras guanyl-nucleotide exchange factor activity
Biological Process: cell migration; chordate embryonic development; fibroblast growth factor receptor signaling pathway; MAPKKK cascade; neuron migration; peptidyl-tyrosine phosphorylation; phosphoinositide-mediated signaling; positive regulation of cell proliferation; positive regulation of MAP kinase activity; positive regulation of MAPKKK cascade; positive regulation of neuron differentiation; positive regulation of phosphoinositide 3-kinase cascade; protein amino acid autophosphorylation; regulation of cell differentiation; regulation of phosphoinositide 3-kinase cascade; skeletal development; skeletal morphogenesis
Disease: Encephalocraniocutaneous Lipomatosis; Hartsfield Syndrome; Hypogonadotropic Hypogonadism 2 With Or Without Anosmia; Jackson-weiss Syndrome; Osteoglophonic Dysplasia; Pfeiffer Syndrome; Trigonocephaly 1
Reference #:  P11362 (UniProtKB)
Alt. Names/Synonyms: Basic fibroblast growth factor receptor 1; bFGF-R-1; BFGFR; CD331; CEK; FGFBR; FGFR-1; FGFR1; fibroblast growth factor receptor 1; FLG; FLJ99988; FLT-2; FLT2; Fms-like tyrosine kinase 2; fms-related tyrosine kinase 2; HBGFR; heparin-binding growth factor receptor; KAL2; N-SAM; OGD; Proto-oncogene c-Fgr; soluble FGFR1 variant 1; soluble FGFR1 variant 2
Gene Symbols: FGFR1
Molecular weight: 91,868 Da
Basal Isoelectric point: 5.82  Predict pI for various phosphorylation states
CST Pathways:  Angiogenesis  |  ESC Pluripotency and Differentiation  |  Tyrosine Kinases & Substrates
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