NP_000133.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
85,083 Da
NCBI Official Full Name
fibroblast growth factor receptor 3 isoform 1
NCBI Official Synonym Full Names
fibroblast growth factor receptor 3
NCBI Official Synonym Symbols
ACH; CEK2; JTK4; CD333; HSFGFR3EX [Similar Products]
NCBI Protein Information
fibroblast growth factor receptor 3
UniProt Protein Name
Fibroblast growth factor receptor 3
UniProt Synonym Protein Names
CD_antigen: CD333
UniProt Synonym Gene Names
UniProt Entry Name
FGFR3_HUMAN
NCBI Summary for FGFR3
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 Comments for FGFR3
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: Kinase, protein; Protein kinase, tyrosine (receptor); Protein kinase, TK; Membrane protein, integral; EC 2.7.10.1; TK group; FGFR family
Chromosomal Location of Human Ortholog: 4p16.3
Cellular Component: endoplasmic reticulum; focal adhesion; Golgi apparatus; integral to plasma membrane; plasma membrane; transport vesicle
Molecular Function: 1-phosphatidylinositol-3-kinase activity; fibroblast growth factor binding; fibroblast growth factor receptor activity; phosphatidylinositol-4,5-bisphosphate 3-kinase activity; protein binding; protein-tyrosine kinase activity; Ras guanyl-nucleotide exchange factor activity
Biological Process: bone mineralization; chondrocyte differentiation; endochondral ossification; fibroblast growth factor receptor signaling pathway; JAK-STAT cascade; MAPKKK cascade; negative regulation of developmental growth; peptidyl-tyrosine phosphorylation; phosphoinositide-mediated signaling; positive regulation of cell proliferation; positive regulation of MAPKKK cascade; positive regulation of phosphoinositide 3-kinase activity; positive regulation of tyrosine phosphorylation of Stat1 protein; positive regulation of tyrosine phosphorylation of Stat3 protein; protein amino acid autophosphorylation; regulation of phosphoinositide 3-kinase cascade; skeletal development
Disease: Achondroplasia; Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans; Bladder Cancer; Camptodactyly, Tall Stature, And Hearing Loss Syndrome; Cervical Cancer; Colorectal Cancer; Crouzon Syndrome With Acanthosis Nigricans; Hypochondroplasia; Lacrimoauriculodentodigital Syndrome; Muenke Syndrome; Nevus, Epidermal; Testicular Germ Cell Tumor; Thanatophoric Dysplasia, Type I; Thanatophoric Dysplasia, Type Ii
Research Articles on FGFR3
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Products associated with anti-FGFR3 antibody
Pathways associated with anti-FGFR3 antibody
Diseases associated with anti-FGFR3 antibody
Organs/Tissues associated with anti-FGFR3 antibody
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