ITGA9(整合素α9)属于整合素家族,是一种跨膜糖蛋白,由α和β亚基组成异二聚体,主要参与细胞与细胞外基质(ECM)的黏附及信号传导。该基因编码的α9亚基与β1亚基结合形成整合素α9β1,在淋巴管发育、炎症反应、伤口愈合及肿瘤转移中发挥关键作用。其配体包括纤连蛋白、VCAM-1、骨桥蛋白等,通过识别RGD(精氨酸-甘氨酸-天冬氨酸)序列介导细胞迁移。ITGA9在平滑肌细胞、内皮细胞和免疫细胞中高表达,尤其在淋巴管内皮细胞中显著,调控淋巴管瓣膜形成。突变可导致淋巴水肿或先天性心脏病,如小鼠模型中α9缺失会引发淋巴管畸形和乳糜胸。与癌症关系密切,在肺癌、乳腺癌中过表达促进转移,而降低表达可抑制肿瘤侵袭。该基因还参与自身免疫疾病(如类风湿关节炎)中白细胞浸润的调控。整合素家族共性为通过连接ECM与细胞骨架传递机械和化学信号,影响细胞增殖、分化及存活。ITGA9过表达会增强细胞运动性并激活FAK/Src通路,而敲除后可能代偿性上调其他整合素(如α4β1)。其功能受剪切力调控,在血流或淋巴流刺激下改变构象以调节细胞应答。
This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane glycoproteins composed of an alpha chain and a beta chain that mediate cell-cell and cell-matrix adhesion. The protein encoded by this gene, when bound to the beta 1 chain, forms an integrin that is a receptor for VCAM1, cytotactin and osteopontin. Expression of this gene has been found to be upregulated in small cell lung cancers. [provided by RefSeq, Jul 2008]
该基因编码一个alpha整合。整合素是一个α链和一个β链组成的异二聚体完整的膜糖蛋白,其介导细胞 - 细胞和细胞 - 基质粘附性。由该基因编码的蛋白质中,当结合到测试1链,形成一个整这对VCAM1,cytotactin和骨桥蛋白的受体。已发现该基因的表达在小细胞肺癌中上调。 [由RefSeq的,2008年7月提供]
ITGA9基因(以及对应的蛋白质)的细胞分布位置:
ITGA9基因的本体(GO)信息:
名称 |
---|
4151 PI3K-Akt signaling pathway [PATH:hsa04151] |
4512 ECM-receptor interaction [PATH:hsa04512] |
4514 Cell adhesion molecules (CAMs) [PATH:hsa04514] |
4810 Regulation of actin cytoskeleton [PATH:hsa04810] |
4510 Focal adhesion [PATH:hsa04510] |
5410 Hypertrophic cardiomyopathy (HCM) [PATH:hsa05410] |
5412 Arrhythmogenic right ventricular cardiomyopathy (ARVC) [PATH:hsa05412] |
5414 Dilated cardiomyopathy (DCM) [PATH:hsa05414] |
名称 |
---|
Axon guidance |
Developmental Biology |
ECM proteoglycans |
Extracellular matrix organization |
Integrin cell surface interactions |
L1CAM interactions |
Signal transduction by L1 |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Nasopharyngeal carcinoma | 0.122909916 | 2 | 1 | BeFree_GAD_GWASCAT |
Amyotrophic Lateral Sclerosis | 0.12 | 1 | 1 | GWASCAT |
Electrocardiogram: P-R interval | 0.12 | 1 | 1 | GWASCAT |
Chylothorax, congenital | 0.080271442 | 1 | 0 | BeFree_MGD |
Chylothorax | 0.005362824 | 1 | 0 | BeFree_GAD_LHGDN |
Hypertensive disease | 0.004734064 | 2 | 0 | GAD |
Lung Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Medulloblastoma | 0.00272435 | 1 | 0 | LHGDN |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Nasopharyngeal Neoplasms | 0.002367032 | 1 | 1 | GAD |
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