成纤维细胞生长因子受体3 (FGFR-3) (EC 2.7.10.1) (CD抗原 CD333)
成纤维细胞生长因子受体3 (FGFR-3) (EC 2.7.10.1) (CD抗原 CD333)
P22607功能描述
酪氨酸蛋白激酶，作为成纤维细胞生长因子的细胞表面受体，在细胞增殖、分化和凋亡的调节中起重要作用。在软骨细胞分化、增殖和凋亡的调节中起重要作用，是正常骨骼发育所必需的。通过成骨细胞调节骨生成和出生后骨矿化。促进软骨细胞凋亡，但也能促进癌细胞增殖。内耳正常发育所必需。磷酸化PLCG1、CBL和FRS2。配体结合导致多种信号级联反应的激活。PLCG1的激活导致细胞信号分子二酰甘油和1,4,5-三磷酸肌醇的产生。FRS2的磷酸化触发GRB2、GAB1、PIK3R1和SOS1的募集，并介导RAS、MAPK1/ERK2、MAPK3/ERK1和MAP激酶信号通路以及AKT1信号通路的激活。在维生素D代谢调节中起作用。导致激酶组成性激活或损害正常FGFR3成熟、内化和降解的突变会导致异常信号传导。过表达或组成性激活的FGFR3促进PTPN11/SHP2、STAT1、STAT5A和STAT5B的激活。分泌型异构体3保留了结合FGF1和FGF2的能力，因此可能干扰FGF信号传导。 {ECO:0000269|PubMed:10611230, ECO:0000269|PubMed:11294897, ECO:0000269|PubMed:11703096, ECO:0000269|PubMed:14534538, ECO:0000269|PubMed:16410555, ECO:0000269|PubMed:16597617, ECO:0000269|PubMed:17145761, ECO:0000269|PubMed:17311277, ECO:0000269|PubMed:17509076, ECO:0000269|PubMed:17561467, ECO:0000269|PubMed:19088846, ECO:0000269|PubMed:19286672, ECO:0000269|PubMed:8663044}.
组织特异性
Expressed in brain, kidney and testis. Very low or no expression in spleen, heart, and muscle. In 20- to 22-week old fetuses it is expressed at high level in kidney, lung, small intestine and brain, and to a lower degree in spleen, liver, and muscle. Isoform 2 is detected in epithelial cells. Isoform 1 is not detected in epithelial cells. Isoform 1 and isoform 2 are detected in fibroblastic cells.
亚细胞定位
[Isoform 1]: Cell membrane; Single-pass type I membrane protein. Cytoplasmic vesicle. Endoplasmic reticulum. Note=The activated receptor is rapidly internalized and degraded. Detected in intracellular vesicles after internalization of the autophosphorylated receptor.; SUBCELLULAR LOCATION: [Isoform 2]: Cell membrane
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