Specification
| Organism | Homo sapiens (Human) |
| Expression Host | Yeast |
| Tag Info | N-terminal 6xHis-tagged |
| Purity | Greater than 85% by SDS-PAGE |
| Uniprot ID | P22607 |
| Gene Names | FGFR3 |
| Alternative Names | CD_antigen: CD333 |
| Expression Region | Partial(397-806aa ) |
| Molecular Weight | 47.4 kDa |
| Protein Sequence | RLRSPPKKGLGSPTVHKISRFPLKRQVSLESNASMSSNTPLVRIARLSSGEGPTLANVSELELPADPKWELSRARLTLGKPLGEGCFGQVVMAEAIGIDKDRAAKPVTVAVKMLKDDATDKDLSDLVSEMEMMKMIGKHKNIINLLGACTQGGPLYVLVEYAAKGNLREFLRARRPPGLDYSFDTCKPPEEQLTFKDLVSCAYQVARGMEYLASQKCIHRDLAARNVLVTEDNVMKIADFGLARDVHNLDYYKKTTNGRLPVKWMAPEALFDRVYTHQSDVWSFGVLLWEIFTLGGSPYPGIPVEELFKLLKEGHRMDKPANCTHDLYMIMRECWHAAPSQRPTFKQLVEDLDRVLTVTSTDEYLDLSAPFEQYSPGGQDTPSSSSSGDDSVFAHDLLPPAPPSSGGSRT |
| Form | Liquid or Lyophilization |
| Buffer | The default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol if the delivery form is liquid. The lyophilization buffer is Tris/PBS-based buffer, 6% Trehalose, pH 8.0 if the delivery form is lyophilized powder. Please contact us if you have any special requirment. |
| Reconstitution | Please reconstitute protein in deionized sterile water and we recommend that briefly centrifuge thevial prior to opening the vial .We recommend aliquot for long-term storage at -20℃/-80℃. |
Background
| Relevance | Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation and apoptosis. Plays an essential role in the regulation of chondrocyte differentiation, proliferation and apoptosis, and is required for normal skeleton development. Regulates both osteogenesis and postnatal bone mineralization by osteoblasts. Promotes apoptosis in chondrocytes, but can also promote cancer cell proliferation. Required for normal development of the inner ear. Phosphorylates PLCG1, CBL and FRS2. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Plays a role in the regulation of vitamin D metabolism. Mutations that lead to constitutive kinase activation or impair normal FGFR3 maturation, internalization and degradation lead to aberrant signaling. Over-expressed or constitutively activated FGFR3 promotes activation of PTPN11/SHP2, STAT1, STAT5A and STAT5B. Secreted isoform 3 retains its capacity to bind FGF1 and FGF2 and hence may interfere with FGF signaling. |
| Involvement in Disease | Achondroplasia (ACH); Crouzon syndrome with acanthosis nigricans (CAN); Thanatophoric dysplasia 1 (TD1); Thanatophoric dysplasia 2 (TD2); Hypochondroplasia (HCH); Bladder cancer (BLC); Cervical cancer (CERCA); Camptodactyly, tall stature, and hearing loss syndrome (CATSHLS); Multiple myeloma (MM); Lacrimo-auriculo-dento-digital syndrome (LADDS); Keratinocytic non-epidermolytic nevus (KNEN); Muenke syndrome (MNKS); Keratosis, seborrheic (KERSEB); Testicular germ cell tumor (TGCT); Achondroplasia, severe, with developmental delay and acanthosis nigricans (SADDAN) |
| Subcellular Location | Isoform 1: Cell membrane, Single-pass type I membrane protein, Cytoplasmic vesicle, Endoplasmic reticulum |
| Protein Families | Protein kinase superfamily, Tyr protein kinase family, Fibroblast growth factor receptor subfamily |
| Tissue Specificity | FGFR3 |
QC Data