FGFR1 - fibroblast growth factor receptor 1
Entrez Gene Name: fibroblast growth factor receptor 1
Entrez GeneID: Human(2260)
, Mouse(14182), Rat(79114)
, Mouse(14182), Rat(79114) Synonyms: AW208770, BFGFR, C-FGR, CD331, CEK, FGF1 RECEPTOR, FGFBR, FGFR1, FLG, FLJ99988, Flk2, FLT2, H5, HBGFR, KAL2, MGC151817, N-SAM, OGD
Gene Summary
- Human (2260): 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]
- Rat (79114): proportion of transmembrane and soluble extracellular isoforms may modulate fibroblast growth factor signaling; plays a role in regulation of neuronal cell proliferation [RGD]
Molecular Functions | Biological Process | Cellular Components | Protein Domains | Subcellular Locations | Pathways | Literature References | IPA Extras
Cell Regulation
Biological Process
angiogenesis, blood vessel morphogenesis, brain development, branching involved in salivary gland morphogenesis, branching morphogenesis of a tube, cell growth, cell maturation, chondrocyte differentiation, embryonic limb morphogenesis, fibroblast growth factor receptor signaling pathway, generation of neurons, in utero embryonic development, induction of an organ, inner ear morphogenesis, lung development, MAPKKK cascade, mesenchymal cell differentiation, midbrain development, negative regulation of apoptosis, neuron projection development, positive regulation of cardiac muscle cell proliferation, positive regulation of cell proliferation, positive regulation of mesenchymal cell proliferation, protein amino acid phosphorylation, regulation of cell proliferation, regulation of gene expression, salivary gland morphogenesis, skeletal system development, ureteric bud development
Cellular Components
integral to membrane, integral to plasma membrane, membrane, membrane fraction, plasma membrane
Literature References
- 12194867Pirvola U, Ylikoski J, Trokovic R, Hebert JM, McConnell SK, Partanen J. FGFR1 is required for the development of the auditory sensory epithelium.Neuron 2002 Aug 15;35(4):671-80
- 11130726Hart AW, Baeza N, Apelqvist A, Edlund H. Attenuation of FGF signalling in mouse beta-cells leads to diabetes.Nature 2000 Dec 14;408(6814):864-8
- 9442882Thomas SM, Brugge JS. Cellular functions regulated by Src family kinases.Annu Rev Cell Dev Biol 1997;13:513-609 View 2195 categorized literature findings and their references in IPA
Molecular Functions
ATP binding, fibroblast growth factor receptor activity, heparin binding, kinase activity, nucleotide binding, protein binding, protein kinase activity, protein tyrosine kinase activity, receptor activity, transferase activity, transmembrane receptor protein tyrosine kinase activity
Protein Domains
cytoplasmic domain, extracellular domain, fibroblast growth factor receptor, immunoglobulin domain, immunoglobulin-like protein domain, kinase, protein binding, protein-tyrosine kinase, transmembrane domain, tyrosine kinase domain
Subcellular Locations
basal membrane, cell body, cell periphery, cell surface, cellular membrane, cytoplasm, cytoplasmic vesicles, membrane fraction, membrane ruffles, neurites, nuclear speckles, nucleus, photoreceptor inner segments, plasma membrane
