FGFR1 Antibody – Mouse Monoclonal

The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]

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.

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: 8p11.23-p11.22

Cellular Component: integral to plasma membrane; 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; Hypogonadotropic Hypogonadism 2 With Or Without Anosmia; Jackson-weiss Syndrome; Osteoglophonic Dysplasia; Pfeiffer Syndrome; Trigonocephaly 1