| Gene Symbol |
FGFR1
|
| Gene Synonyms |
CEK FLG HH2 OGD ECCL FLT2 KAL2 BFGFR CD331 FGFBR FLT-2 HBGFR N-SAM FGFR-1 HRTFDS bFGF-R-1 |
| Gene Full Name |
fibroblast growth factor receptor 1 |
| Gene Summary |
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] |
| Alternative Names |
Basic fibroblast growth factor receptor 1 bFGF-R-1 BFGFR CD331 CEK FGFBR FGFR 1 FGFR-1 FGFR1 FGFR1/PLAG1 fusion FGFR1_HUMAN fibroblast growth factor receptor 1 FLG FLT-2 FLT2 Fms-like gene Fms-like tyrosine kinase 2 fms-related tyrosine kinase 2 HBGFR heparin-binding growth factor receptor HH2 HRTFDS hydroxyaryl-protein kinase KAL2 N-SAM OGD Proto-oncogene c-Fgr bacteria-expressed kinase BBDS BEK BEK fibroblast growth factor receptor BFR1 CD332 CD332 antigen CEK3 CFD1 Craniofacial dysostosis 1 ECT1 FGF receptor FGFR 2 FGFR-2 Fgfr2 FGFR2_HUMAN Fibroblast growth factor receptor 2 Hydroxyaryl protein kinase Jackson Weiss syndrome JWS K SAM K-sam Keratinocyte growth factor receptor 2 Keratinocyte growth factor receptor KGFR KSAM protein tyrosine kinase receptor like 14 soluble FGFR4 variant 4 TK14 TK25
|
| Molecular Weight(MW) |
92 kDa |
| Cellular Localization |
Cell membrane, Nucleus, Cytoplasm, Cytosol, Cytoplasmic vesicle |