FGFR3 recombinant protein

FGFR3 Protein, Human, Recombinant (ECD, His Tag)

Cat. Num. AAA8122007

• Gene Names: FGFR3; ACH; CEK2; JTK4; CD333; HSFGFR3EX
• Purity: >95% as determined by SDS-PAGE
• Synonyms: FGFR3; FGFR3 Protein; Human; Recombinant (ECD; His Tag); Human FGFR3/CD333 Protein (His Tag; ECD); ACH Protein; CD333 Protein; CEK2 Protein; HSFGFR3EX Protein; JTK4 Protein; fibroblast growth factor receptor 3; FGFR3 recombinant protein

• Host: HEK293 Cells
• Purity/Purification: >95% as determined by SDS-PAGE
• Form/Format: Lyophilized from sterile PBS, pH7.4. Normally 5%-8% trehalose, mannitol and 0.01% Tween80 are added as protectants before lyophilization. Please refer to the specific buffer information in the hard copy of CoA.
• Sequence: Met1-Gly375

• Species: Human
• Endotoxin: <1.0EU per ug protein as determined by the LAL method.
• Predicted N Terminal: Glu 23
• Tag: C-His
• Protein Construction: A DNA sequence encoding the human FGFR3 (NP_000133.1)(Met1-Gly375) was expressed with a polyhistidine tag at the C-terminus.
• Reconstitution: A hardcopy of COA with reconstitution instruction is sent along with the products. Please refer to it for detailed information.
• Preparation and Storage: Samples are stable for up to twelve months from date of receipt at -20 degree C to -80 degree C. Store it under sterile conditions at -20 degree C to -80 degree C. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.; In general, recombinant proteins are provided as lyophilized powder which are shipped at ambient temperature. Bulk packages of recombinant proteins are provided as frozen liquid.; They are shipped out with blue ice.

SDS-Page

Related Product Information for FGFR3 recombinant protein

Background: FGFR3, also known as CD333, is a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. FGFRs are transmembrane catalytic receptors that have intracellular tyrosine kinase activity. Mutations in FGFR genes are the cause of several human developmental disorders characterized by skeletal abnormalities such as achondroplasia, and upregulation of FGFR expression may lead to cell transformation and cancer. FGFR3, 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 FGFR3 interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. FGFR3 binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in FGFR3 gene lead to craniosynostosis and multiple types of skeletal dysplasia. Three alternatively spliced transcript variants that encode different protein isoforms have been described. CD333 is the receptor for acidic and basic fibroblast growth factors.

Product Categories/Family for FGFR3 recombinant protein

Receptor Tyrosine Kinases (RTKs) Cancer Drug Targets

References

Keegan K, et al. (1991) Isolation of an additional member of the fibroblast growth factor receptor family, FGFR-3. Proc Natl Acad Sci. 88(4):1095-9.
Hafner C, et al. (2007) FGFR3 mutations in epidermal nevi and seborrheic keratoses: lessons from urothelium and skin. J Invest Dermatol. 127(7):1572-3.
Lamy A, et al. (2006) Molecular profiling of bladder tumors based on the detection of FGFR3 and TP53 mutations. J Urol. 176(6 Pt 1):2686-9.
Schweitzer DN, et al. (2001) Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3. Am J Med Genet. 98 (1):75-91.

NCBI and Uniprot Product Information

• NCBI GI #: 4503711
• NCBI GeneID: 2261
• NCBI Accession #: NP_000133.1
• NCBI GenBank Nucleotide #: NM_000142.4
• UniProt Accession #: P22607; Q14308; Q16294; Q16608; Q59FL9; D3DVP9; D3DVQ0
• Molecular Weight: 87,710 Da
• NCBI Official Full Name: fibroblast growth factor receptor 3 isoform 1
• NCBI Official Synonym Full Names: fibroblast growth factor receptor 3
• NCBI Official Symbol: FGFR3
• NCBI Official Synonym Symbols: ACH; CEK2; JTK4; CD333; HSFGFR3EX
• NCBI Protein Information: fibroblast growth factor receptor 3; FGFR-3; tyrosine kinase JTK4; hydroxyaryl-protein kinase; fibroblast growth factor receptor 3 variant 4
• UniProt Protein Name: Fibroblast growth factor receptor 3
• Protein Family: Fibroblast growth factor receptor
• UniProt Gene Name: FGFR3
• UniProt Synonym Gene Names: JTK4; FGFR-3
• UniProt Entry Name: FGFR3_HUMAN

NCBI Description

This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. 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. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. Three alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Jul 2009]

Uniprot Description

FGFR3: a receptor tyrosine kinase of the highly-conserved FGFR family that binds fibroblast growth factor (FGF). Mutations are associated with thanatophoric dysplasia (TD), craniosynostosis Adelaide type, many craniosynostotic syndromes and bone malformations. Three splice-variant isoforms have been described. Activating point mutations cause dwarfism, including achondroplasia, hypochrondroplasia and thanatophoric dysplasia, and facial and other morphogenetic disorders, including Crouzon syndrome, craniosynostosis Adelaide type, San Diego skeletal displasia and Muenke syndrome. Translocations t(4;14) involving the IgH region are common in multiple myeloma and frequently involve FGFR3. Activated FGFR3 found in 30% of bladder cancers and several cervical cancers, but not in other tumors. Two mutations found in colorectal cancer.

Protein type: Protein kinase, tyrosine (receptor); Protein kinase, TK; Kinase, protein; Membrane protein, integral; EC 2.7.10.1; TK group; FGFR family

Chromosomal Location of Human Ortholog: 4p16.3

Cellular Component: Golgi apparatus; internal side of plasma membrane; transport vesicle; focal adhesion; cell surface; perinuclear region of cytoplasm; integral to plasma membrane; endoplasmic reticulum; lysosome; extracellular region; plasma membrane; nucleus

Molecular Function: protein binding; fibroblast growth factor binding; fibroblast growth factor receptor activity; protein-tyrosine kinase activity; ATP binding

Biological Process: peptidyl-tyrosine phosphorylation; nerve growth factor receptor signaling pathway; somatic stem cell maintenance; protein amino acid autophosphorylation; negative regulation of transcription from RNA polymerase II promoter; bone mineralization; positive regulation of tyrosine phosphorylation of Stat3 protein; substantia nigra development; inner ear receptor cell differentiation; positive regulation of MAPKKK cascade; cell-cell signaling; positive regulation of neuron apoptosis; forebrain development; positive regulation of cell proliferation; morphogenesis of an epithelium; chondrocyte differentiation; response to axon injury; skeletal development; negative regulation of epithelial cell proliferation; endochondral ossification; epidermal growth factor receptor signaling pathway; negative regulation of developmental growth; phosphoinositide-mediated signaling; fibroblast growth factor receptor signaling pathway; myelination in the central nervous system; MAPKKK cascade; positive regulation of phosphoinositide 3-kinase activity; digestive tract morphogenesis; JAK-STAT cascade; positive regulation of tyrosine phosphorylation of Stat1 protein; positive regulation of protein ubiquitination; negative regulation of smoothened signaling pathway; negative regulation of mitosis; negative regulation of astrocyte differentiation; insulin receptor signaling pathway; innate immune response; positive regulation of endothelial cell proliferation; lens morphogenesis in camera-type eye; positive regulation of cell differentiation

Disease: Bladder Cancer; Achondroplasia; Hypochondroplasia; Muenke Syndrome; Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans; Cervical Cancer; Thanatophoric Dysplasia, Type I; Crouzon Syndrome With Acanthosis Nigricans; Colorectal Cancer; Lacrimoauriculodentodigital Syndrome; Camptodactyly, Tall Stature, And Hearing Loss Syndrome; Thanatophoric Dysplasia, Type Ii; Testicular Germ Cell Tumor; Nevus, Epidermal