LAT(L-氨基酸转运蛋白1,L-type amino acid transporter 1)是一种重要的跨膜转运蛋白,属于溶质载体家族7(SLC7)的成员,具体属于SLC7A5基因。它主要与SLC3A2(CD98hc)形成异源二聚体,共同组成LAT1-CD98hc复合物,负责细胞膜上中性氨基酸(如亮氨酸、苯丙氨酸、色氨酸等)的转运。LAT1在多种组织中表达,尤其在血脑屏障、胎盘和快速增殖的细胞(如癌细胞)中高度活跃,对细胞生长、增殖和代谢调控至关重要。LAT1通过mTOR信号通路参与调控蛋白质合成和细胞周期,影响肿瘤细胞的能量代谢和增殖。LAT1的突变可能导致氨基酸转运功能障碍,与某些遗传性疾病(如自闭症谱系障碍和智力障碍)相关。此外,LAT1的过表达常见于多种癌症(如乳腺癌、肺癌、胶质母细胞瘤),促进肿瘤细胞的氨基酸摄取和生长,因此被视为潜在的抗癌靶点。相反,LAT1表达降低可能抑制肿瘤进展,但也会影响正常细胞的代谢需求,尤其在神经系统和免疫系统中可能引发功能异常。SLC7基因家族的共性在于它们多为氨基酸转运蛋白,依赖与SLC3家族蛋白形成异二聚体来实现功能,参与细胞营养吸收、信号传导和疾病发生。LAT1作为该家族的代表,其功能异常或表达变化对机体代谢和疾病发展具有广泛影响。
The protein encoded by this gene is phosphorylated by ZAP-70/Syk protein tyrosine kinases following activation of the T-cell antigen receptor (TCR) signal transduction pathway. This transmembrane protein localizes to lipid rafts and acts as a docking site for SH2 domain-containing proteins. Upon phosphorylation, this protein recruits multiple adaptor proteins and downstream signaling molecules into multimolecular signaling complexes located near the site of TCR engagement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
由该基因编码的蛋白质由ZAP-70的磷酸化/下列T细胞抗原受体(TCR)信号转导通路的激活Syk的蛋白酪氨酸激酶。这跨膜蛋白定位于脂筏,并作为一个停靠站点为含SH2结构域的蛋白。磷酸化后,这种蛋白新兵多适配器蛋白质和下游信号分子到位于TCR订婚的地点附近多分子信号复合。在多个转录剪接变异体导致编码不同亚型。 [由RefSeq的,2008年7月提供]
LAT基因(以及对应的蛋白质)的细胞分布位置:
LAT基因的本体(GO)信息:
名称 |
---|
4014 Ras signaling pathway [PATH:hsa04014] |
4015 Rap1 signaling pathway [PATH:hsa04015] |
4064 NF-kappa B signaling pathway [PATH:hsa04064] |
4650 Natural killer cell mediated cytotoxicity [PATH:hsa04650] |
4660 T cell receptor signaling pathway [PATH:hsa04660] |
4664 Fc epsilon RI signaling pathway [PATH:hsa04664] |
4666 Fc gamma R-mediated phagocytosis [PATH:hsa04666] |
名称 |
---|
Adaptive Immune System |
DAP12 interactions |
DAP12 signaling |
Fc epsilon receptor (FCERI) signaling |
FCERI mediated Ca+2 mobilization |
FCERI mediated MAPK activation |
Generation of second messenger molecules |
GPVI-mediated activation cascade |
Hemostasis |
Immune System |
Innate Immune System |
Platelet activation, signaling and aggregation |
TCR signaling |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Liver diseases | 0.12 | 1 | 0 | CTD_human |
Neurotoxicity Syndromes | 0.12 | 1 | 0 | CTD_human |
AMYOTROPHIC LATERAL SCLEROSIS 1 | 0.12 | 1 | 0 | CTD_human |
Herpes Simplex Infections | 0.004885954 | 18 | 0 | BeFree |
Lupus Erythematosus, Systemic | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Intolerance to protein | 0.001085767 | 4 | 0 | BeFree |
Glioblastoma | 0.000814326 | 3 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Prostate carcinoma | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000542884 | 2 | 0 | BeFree |
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