FGFR1 Gene Summary [Human]
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]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | FGFR1 |
| Official Name | fibroblast growth factor receptor 1 [Source:HGNC Symbol;Acc:HGNC:3688] |
| Ensembl ID | ENSG00000077782 |
| Bio databases IDs | |
| Aliases | fibroblast growth factor receptor 1, Pfeiffer syndrome |
| Synonyms | BFGFR, bFGF-R-1, CD331, CEK, c-fgr, Eask, ECCL, FGFBR, FGF receptor 1, FGFR-I, Fibroblast growth factor receptor 1, FLG, FLT-2, Fr1, HBGFR, HH2, HRTFDS, Hspy, KAL2, MFR, N-SAM, OGD |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human FGFR1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- cell adhesion molecule binding
- signal peptide
- Protein kinase domain
- protein-tyrosine kinase
- identical protein binding
- cytoplasmic domain
- ligand-binding domain
- Immunoglobulin like
- extracellular ligand binding domain
- intracellular domain
- immunoglobulin-like protein domain
- membrane-proximal domain
- Tyrosine kinase, catalytic domain
- transmembrane receptor
- endodomain
- extracellular domain
- Protein kinase (unclassified specificity)
- dimerization domain
- SH2-domain binding
- Protein tyrosine and serine/threonine kinase
- catalytic domain
- ectodomain
- immunoglobulin domain
- Immunoglobulin I-set domain
- autophosphorylation site
- protein binding
- receptor binding
- acidic domain
- kinase
- Serine/Threonine protein kinases, catalytic domain
- kinase domain
- binding protein
- fibroblast growth factor receptor
- Protein Kinases, catalytic domain
- fibroblast growth factor binding
- transmembrane/cytoplasmic domain
- transmembrane domain
- tyrosine kinase domain
- protein homodimerization
- heparin binding
- tyrosine phosphorylation site
Pathways
Biological processes and signaling networks where the FGFR1 gene in human plays a role, providing insight into its function and relevance in health or disease.
- Adipogenesis pathway
- CREB Signaling in Neurons
- Epithelial Adherens Junction Signaling
- FGF Signaling
- Hepatic Fibrosis / Hepatic Stellate Cell Activation
- Human Embryonic Stem Cell Pluripotency
- IL-15 Production
- NF-κB Signaling
- Osteoarthritis Pathway
- PTEN Signaling
- Regulation of the Epithelial-Mesenchymal Transition Pathway
- Sperm Motility
- STAT3 Pathway
- Transcriptional Regulatory Network in Embryonic Stem Cells
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- metastasis
- osteoarthritis
- epithelial cancer
- epithelial neoplasia
- cancer
- neoplasia
- tumorigenesis
- fibrosis
- liver cancer
- salivary gland neoplasm
role in cell
- expression in
- quantity
- production in
- cell viability
- phosphorylation in
- activation in
- formation
- signaling in
- binding in
- proliferation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- membrane fraction
- glutaminergic synapse
- Cytoplasm
- cell surface
- cell periphery
- perinuclear region
- postsynaptic region
- cellular membrane
- Nucleus
- membrane ruffles
- apical membrane
- basal membrane
- granular components
- perinuclear space
- nuclear speckles
- nuclear matrix
- neurites
- photoreceptor inner segments
- cytoplasmic vesicles
- extracellular matrix
- filopodia
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FGFR1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lung-associated mesenchyme development
- peptidyl-tyrosine phosphorylation
- positive regulation of cardiac muscle cell proliferation
- cell projection assembly
- protein autophosphorylation
- fibroblast growth factor receptor signaling pathway
- branching involved in salivary gland morphogenesis
- sensory perception of sound
- midbrain development
- skeletal system development
- in utero embryonic development
- vitamin D3 metabolic process
- positive regulation of parathyroid hormone secretion
- positive regulation of neuron projection development
- cementum mineralization
- positive regulation of mesenchymal cell proliferation
- cardiac muscle cell proliferation
- auditory receptor cell development
- phosphatidylinositol-mediated signaling
- regulation of lateral mesodermal cell fate specification
- positive regulation of stem cell proliferation
- inner ear morphogenesis
- organ induction
- epithelial to mesenchymal transition
- gene expression
- mesenchymal cell proliferation
- positive regulation of protein kinase B signaling cascade
- positive regulation of MAP kinase activity
- chordate embryonic development
- calcium ion homeostasis
- multicellular organismal development
- positive regulation of cell proliferation
- paraxial mesoderm development
- outer ear morphogenesis
- chondrocyte differentiation
- positive regulation of neuron differentiation
- middle ear morphogenesis
- negative regulation of fibroblast growth factor production
- protein phosphorylation
- regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling
- negative regulation of transcription from RNA polymerase II promoter
- embryonic limb morphogenesis
- positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway
- MAPK cascade
- neuron migration
- regulation of cell differentiation
- stem cell differentiation
- angiogenesis
- positive regulation of phospholipase activity
- stem cell proliferation
- positive regulation of endothelial cell chemotaxis
- positive regulation of kinase activity
- cell migration
- neuron projection development
- ventricular zone neuroblast division
- cellular response to fibroblast growth factor stimulus
- transmembrane receptor protein tyrosine kinase signaling pathway
- cell maturation
- positive regulation of cell differentiation
- positive regulation of MAPK cascade
- skeletal system morphogenesis
- positive regulation of blood vessel endothelial cell migration
- regulation of phosphate transport
- diphosphate metabolic process
- fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development
- ureteric bud development
- regulation of extrinsic apoptotic signaling pathway in absence of ligand
Cellular Component
Where in the cell the gene product is active
- nucleus
- membrane
- cytoplasmic vesicle
- cytosol
- receptor complex
- extracellular region
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- fibroblast growth factor-activated receptor activity
- ATP binding
- identical protein binding
- protein tyrosine kinase activity
- protein binding
- protein homodimerization activity
- heparin binding
- fibroblast growth factor binding
- SH2 domain binding