FGFRL1 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 would consist 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. A marked difference between this gene product and the other family members is its lack of a cytoplasmic tyrosine kinase domain. The result is a transmembrane receptor that could interact with other family members and potentially inhibit signaling. Multiple alternatively spliced transcript variants encoding the same isoform have been found for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Processed Transcript |
| Official Symbol | FGFRL1 |
| Official Name | fibroblast growth factor receptor like 1 [Source:HGNC Symbol;Acc:HGNC:3693] |
| Ensembl ID | ENSG00000127418 |
| Bio databases IDs | |
| Aliases | fibroblast growth factor receptor like 1 |
| Synonyms | FGFR-5, FGFR5beta, FGFR5gamma, FHFR, fibroblast growth factor receptor-like 1 |
| 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 FGFRL1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- extracellular domain
- non-tyrosine kinase fibroblast growth factor receptor
- immunoglobulin domain
- Immunoglobulin I-set domain
- identical protein binding
- T-cell surface glycoprotein CD3 delta chain
- fibroblast growth factor receptor
- fibroblast growth factor binding
- L-iduronidase
- Immunoglobulin like
- heparin binding
- transmembrane receptor
- Immunoglobulin V-set domain
Pathways
Biological processes and signaling networks where the FGFRL1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- gout
- non-insulin-dependent diabetes mellitus
- hypoplasia
- basioccipital-basisphenoid bone fusion
- fracture of bone
- anemia
- dyspnea
- growth failure
- valvular regurgitation
- pectus excavatum
regulates
- MAPK
- collagen type IV
- FGFR1
- proinsulin
- hemoglobin
- laminin (family)
- YAP/TAZ
role in cell
- proliferation
- apoptosis
- cell death
- number
- cell cycle progression
- adhesion
- fusion
- signaling in
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
- Cytoplasm
- cellular membrane
- Golgi Apparatus
- intercellular junctions
- transport vesicles
- secretory vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FGFRL1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- skeletal system development
- negative regulation of cell proliferation
- fibroblast growth factor receptor signaling pathway
- diaphragm development
- ventricular septum morphogenesis
- heart valve morphogenesis
Cellular Component
Where in the cell the gene product is active
- cell-cell contact zone
- Golgi apparatus
- transport vesicle
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- fibroblast growth factor-activated receptor activity
- identical protein binding
- heparin binding
- fibroblast growth factor binding