FGFR1
FGFR1 (fibroblast growth factor receptor 1, also known as CD331, CEK, FLG, BFGFR, N-SAM, FLT2 and KAL2) is a cell-surface tyrosine-protein kinase that binds fibroblast growth factors. It regulates embryonic development, cell proliferation, differentiation and migration. Browse Assay Genie's current range of FGFR1 research reagents below, or read on for the biology behind the target.
FGFR1 is a tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors. It binds both acidic and basic fibroblast growth factors, and ligand binding activates several signalling cascades. The receptor phosphorylates PLCG1, FRS2, GAB1 and SHB. Activation of PLCG1 produces the signalling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 recruits GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase pathway, as well as the AKT1 pathway. FGFR1 also promotes phosphorylation of SHC1, STAT1 and PTPN11/SHP2. In the nucleus it enhances RPS6KA1 and CREB1 activity and contributes to transcriptional regulation. Its signalling is down-regulated by IL17RD/SEF and by FGFR1 ubiquitination, internalisation and degradation.
The FGFR1 gene encodes a member of the fibroblast growth factor receptor family, within the protein kinase superfamily and the Tyr protein kinase family. Amino acid sequence is highly conserved between family members and throughout evolution, while members differ in ligand affinity and tissue distribution. A full-length protein has an extracellular region of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. UniProt records the protein at the cell membrane, nucleus, cytosol and cytoplasmic vesicles. Alternatively spliced variants encode different isoforms, though not all have been fully characterised. Mouse and rat both have an Fgfr1 ortholog.
FGFR1 is required for normal mesoderm patterning, correct axial organisation, skeletogenesis and development of the gonadotropin-releasing hormone (GnRH) neuronal system, and it is involved in limb induction. Mutations in the gene are associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving the gene are associated with stem cell myeloproliferative disorder and stem cell leukaemia lymphoma syndrome. The previous name was fms-related tyrosine kinase 2.
FGFR1 is required for mesoderm patterning, axial organisation and skeletogenesis, making it a key receptor for studying early development.
Ligand binding drives PLCG1, FRS2, RAS-MAPK and AKT1 signalling, so FGFR1 is a model for dissecting growth factor signal transduction.
Mutations in FGFR1 are linked to Pfeiffer, Jackson-Weiss and Antley-Bixler syndromes and osteoglophonic dysplasia.
FGFR1 supports GnRH neuron development and is linked to Kallmann syndrome 2 and to chromosomal aberrations in myeloproliferative disorders.
FGFR1 is a cell-surface tyrosine kinase receptor for fibroblast growth factors. On ligand binding it phosphorylates substrates such as PLCG1, FRS2, GAB1 and SHB, activating RAS-MAPK and AKT1 signalling. This regulates embryonic development, proliferation, differentiation and migration.
FGFR1 is also known as CD331, CEK, FLG, BFGFR, N-SAM, FLT2, KAL2, H2, H3, H4 and H5. Its previous name was fms-related tyrosine kinase 2. Alternative splicing produces different protein isoforms, not all of which have been fully characterised.
Sequence is highly conserved across the FGFR family and through evolution, and mouse and rat each have an Fgfr1 ortholog. FGFR1 mutations are associated with Pfeiffer syndrome and Kallmann syndrome 2, among others. Check the datasheet of any product for its validated reactivity.
Related fibroblast growth factor receptor family and FGFR1 partner targets with products at Assay Genie.
Gene and protein annotations from HGNC, NCBI Gene and UniProt P11362; product specifications from Assay Genie datasheets.