Fgfr1 Gene Summary [Mouse]
Enables SH2 domain binding activity; fibroblast growth factor binding activity; and fibroblast growth factor receptor activity. Involved in several processes, including cementum mineralization; diphosphate metabolic process; and forebrain development. Acts upstream of or within several processes, including ear development; positive regulation of cell population proliferation; and regulation of animal organ morphogenesis. Located in plasma membrane. Is active in glutamatergic synapse and postsynapse. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; genitourinary system; and sensory organ. Used to study Pfeiffer syndrome; atopic dermatitis; and otitis media. Human ortholog(s) of this gene implicated in several diseases, including Jackson-Weiss syndrome; bone disease (multiple); carcinoma (multiple); hematologic cancer (multiple); and hypogonadotropic hypogonadism (multiple). Orthologous to human FGFR1 (fibroblast growth factor receptor 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Fgfr1 |
| Official Name | fibroblast growth factor receptor 1 [Source:MGI Symbol;Acc:MGI:95522] |
| Ensembl ID | ENSMUSG00000031565 |
| Bio databases IDs | |
| Aliases | fibroblast growth factor receptor 1 |
| 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 | Mouse, Mus musculus |
| 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 mouse 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 mouse 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
phenotypes
- abnormal embryo size
- abnormal placenta size
- embryonic lethality prior to tooth bud stage
- increased respiratory quotient
- preweaning lethality complete penetrance
- abnormal alisphenoid bone morphology
- abnormal auditory bulla morphology
- abnormal axial skeleton morphology
- abnormal basisphenoid bone morphology
- abnormal blastocyst morphology
- abnormal brain morphology
- abnormal carpal bone morphology
- abnormal cartilage development
- abnormal cerebellum vermis morphology
- abnormal cervical axis morphology
- abnormal chorion morphology
- abnormal cochlear hair cell development
- abnormal cochlear hair cell morphology
- abnormal cochlear nerve compound action potential
- abnormal cochlear sensory epithelium morphology
- abnormal craniofacial bone morphology
- abnormal craniofacial morphology
- abnormal developmental patterning
- abnormal digit morphology
- abnormal ear physiology
- abnormal ear position
- abnormal ear shape
- abnormal egg cylinder morphology
- abnormal embryo development
- abnormal embryonic epiblast morphology
- abnormal embryonic growth/weight/body size
- abnormal embryonic tissue morphology
- abnormal embryonic-extraembryonic boundary morphology
- abnormal extraembryonic tissue morphology
- abnormal forelimb morphology
- abnormal gastrulation
- abnormal gastrulation movements
- abnormal head fold morphology
- abnormal head mesenchyme morphology
- abnormal heart development
- abnormal heart tube morphology
- abnormal hyoid bone lesser horn morphology
- abnormal incudostapedial joint morphology
- abnormal incus body morphology
- abnormal incus long process morphology
- abnormal incus morphology
- abnormal incus short process morphology
- abnormal inner ear morphology
- abnormal lateral plate mesoderm morphology
- abnormal limb morphology
- abnormal malleus morphology
- abnormal maxillary-premaxillary suture morphology
- abnormal mesoderm development
- abnormal midbrain morphology
- abnormal middle ear morphology
- abnormal middle ear ossicle morphology
- abnormal neural crest cell migration
- abnormal neural crest cell morphology
- abnormal neural fold formation
- abnormal neural fold morphology
- abnormal neural plate morphology
- abnormal neural tube closure
- abnormal neural tube morphology
- abnormal notochordal process morphology
- abnormal organ of Corti morphology
- abnormal orientation of inner hair cell stereociliary bundles
- abnormal outer ear morphology
- abnormal palatine bone morphology
- abnormal phalanx morphology
- abnormal pinna reflex
- abnormal posterior primitive streak morphology
- abnormal primitive endoderm morphology
- abnormal primitive streak morphology
- abnormal pterygoid bone morphology
- abnormal respiratory quotient
- abnormal retrotympanic process morphology
- abnormal rib morphology
- abnormal rostral-caudal axis patterning
- abnormal rostral-caudal body axis extension
- abnormal second pharyngeal arch morphology
- abnormal secondary palate development
- abnormal snout morphology
- abnormal somite development
- abnormal stapes morphology
- abnormal stapes posterior crus morphology
- abnormal sternocostal joint morphology
- abnormal styloid process morphology
- abnormal tail development
- abnormal tail morphology
- abnormal tarsal bone morphology
- abnormal thoracic cage morphology
- abnormal thoracic vertebrae morphology
- abnormal tongue morphology
- abnormal vertebrae morphology
- abnormal visceral yolk sac endoderm morphology
- abnormal visceral yolk sac mesenchyme morphology
- abnormal visceral yolk sac morphology
- abnormal viscerocranium morphology
- absent cochlear outer hair cells
- absent gonial bone
- absent incus lenticular process
- absent limb buds
- absent middle ear ossicles
- absent organ of Corti supporting cells
- absent round window
- absent second pharyngeal arch
- absent somites
- absent stapes head
- absent tympanic ring
- absent visceral yolk sac blood islands
- bleb
- broad limb buds
- caudal body truncation
- cervical vertebral transformation
- cleft palate
- craniofacial asymmetry
- craniorachischisis
- decreased body size
- decreased caudal vertebrae number
- decreased cochlear outer hair cell number
- decreased embryo size
- decreased endocochlear potential
- decreased inferior colliculus size
- decreased lumbar vertebrae number
- decreased paraxial mesoderm size
- decreased somite size
- decreased thoracic vertebrae number
- decreased tympanic ring size
- embryonic growth arrest
- embryonic growth retardation
- embryonic lethality between implantation and somite formation complete penetrance
- embryonic lethality between implantation and somite formation incomplete penetrance
- embryonic lethality between somite formation and embryo turning complete penetrance
- embryonic lethality between somite formation and embryo turning incomplete penetrance
- embryonic lethality during organogenesis complete penetrance
- embryonic lethality during organogenesis incomplete penetrance
- embryonic lethality complete penetrance
- enlarged allantois
- enlarged heart
- excessive cerumen
- excessive folding of visceral yolk sac
- facial asymmetry
- failure of heart looping
- failure of palatal shelf elevation
- failure of primitive streak formation
- failure of somite differentiation
- fusion of atlas and occipital bones
- increased axial mesoderm size
- increased cochlear inner hair cell number
- increased or absent threshold for auditory brainstem response
- increased osteoblast cell number
- increased osteoblast proliferation
- increased rib number
- increased susceptibility to otitis media
- increased thoracic vertebrae number
- incus hypoplasia
- kinked neural tube
- lethality throughout fetal growth and development complete penetrance
- lethality throughout fetal growth and development incomplete penetrance
- long incisors
- lowered ear position
- lumbar vertebral transformation
- malleus hypoplasia
- middle ear ossicle hypoplasia
- midface hypoplasia
- neonatal lethality
- neonatal lethality complete penetrance
- no abnormal phenotype detected
- ocular hypertelorism
- oligodactyly
- perinatal lethality incomplete penetrance
- postaxial polydactyly
- postnatal lethality complete penetrance
- premature coronal suture closure
- premature cranial suture closure
- premature maxillary-premaxillary suture closure
- premature metopic suture closure
- premature sagittal suture closure
- prenatal lethality complete penetrance
- prenatal lethality incomplete penetrance
- rib bifurcation
- rib fusion
- sacral vertebral transformation
- second pharyngeal arch hypoplasia
- short mandible
- short nasal bone
- short snout
- short tail
- short tibia
- small cranium
- small ears
- small gonial bone
- small proamniotic cavity
- small round window
- small second pharyngeal arch
- small visceral yolk sac
- spina bifida
- stapes hypoplasia
- styloid process hypoplasia
- syndactyly
- thoracic vertebral transformation
- tympanic ring hypoplasia
- vertebral transformation
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 mouse 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