FASLG(Fas ligand,也称为CD95L或TNFSF6)是肿瘤坏死因子(TNF)超家族成员之一,属于II型跨膜蛋白,其基因位于人类1号染色体(1q23)。FASLG的主要功能是通过与受体FAS(CD95)结合,激活细胞凋亡(程序性细胞死亡)信号通路,在免疫调节、免疫耐受和清除异常细胞(如病毒感染细胞或肿瘤细胞)中起关键作用。FASLG主要在活化的T细胞和自然杀伤(NK)细胞表面表达,也可通过金属蛋白酶切割形成可溶性形式。FASLG与FAS结合后,触发死亡诱导信号复合体(DISC)形成,激活半胱天冬酶(caspase)级联反应,最终导致细胞凋亡。FASLG基因突变可能导致功能丧失,与自身免疫性淋巴增生综合征(ALPS)相关,表现为淋巴细胞异常积累和自身免疫疾病;而过度表达可能引起组织损伤,如肝炎或移植物抗宿主病(GVHD)。FASLG属于TNF超家族(TNFSF),该家族成员均为细胞因子,通过三聚体结构与相应受体结合,参与炎症、免疫和凋亡调控。FASLG表达异常(过高或过低)均可能破坏免疫稳态:过表达会增强细胞毒性,导致健康组织损伤;而低表达可能削弱免疫监视功能,增加肿瘤或感染风险。此外,FASLG还参与免疫豁免部位(如眼睛和睾丸)的免疫特权维持。某些病毒(如HIV)可下调FASLG表达以逃避免疫清除,而肿瘤细胞也可能通过FASLG/FAS通路失调抵抗凋亡。
This gene is a member of the tumor necrosis factor superfamily. The primary function of the encoded transmembrane protein is the induction of apoptosis triggered by binding to FAS. The FAS/FASLG signaling pathway is essential for immune system regulation, including activation-induced cell death (AICD) of T cells and cytotoxic T lymphocyte induced cell death. It has also been implicated in the progression of several cancers. Defects in this gene may be related to some cases of systemic lupus erythematosus (SLE). Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2014]
该基因是肿瘤坏死因子超家族的成员。所编码的跨膜蛋白的主要功能是细胞凋亡的通过结合到FAS触发的诱导。所述FAS / FASLG信号通路是免疫系统的调节,包括T细胞和细胞毒性T淋巴细胞诱导的细胞死亡的活化诱导的细胞死亡(AICD)是必不可少的。还已牵涉于多种癌症的进展。在这个基因的缺陷可能与全身性红斑狼疮(SLE)的一些情况下。可变剪接转录物变体已有描述。 [由RefSeq的,2014年11月提供]
FASLG基因(以及对应的蛋白质)的细胞分布位置:
FASLG基因的本体(GO)信息:
名称 |
---|
4014 Ras signaling pathway [PATH:hsa04014] |
4010 MAPK signaling pathway [PATH:hsa04010] |
4068 FoxO signaling pathway [PATH:hsa04068] |
4151 PI3K-Akt signaling pathway [PATH:hsa04151] |
4060 Cytokine-cytokine receptor interaction [PATH:hsa04060] |
4210 Apoptosis [PATH:hsa04210] |
4650 Natural killer cell mediated cytotoxicity [PATH:hsa04650] |
4722 Neurotrophin signaling pathway [PATH:hsa04722] |
5200 Pathways in cancer [PATH:hsa05200] |
5205 Proteoglycans in cancer [PATH:hsa05205] |
5320 Autoimmune thyroid disease [PATH:hsa05320] |
5330 Allograft rejection [PATH:hsa05330] |
5332 Graft-versus-host disease [PATH:hsa05332] |
4940 Type I diabetes mellitus [PATH:hsa04940] |
4932 Non-alcoholic fatty liver disease (NAFLD) [PATH:hsa04932] |
5162 Measles [PATH:hsa05162] |
5164 Influenza A [PATH:hsa05164] |
5161 Hepatitis B [PATH:hsa05161] |
5168 Herpes simplex infection [PATH:hsa05168] |
5142 Chagas disease (American trypanosomiasis) [PATH:hsa05142] |
5143 African trypanosomiasis [PATH:hsa05143] |
名称 |
---|
Apoptosis |
CASP8 activity is inhibited |
Caspase activation via extrinsic apoptotic signalig pathway |
Death Receptor Signalling |
Dimerization of procaspase-8 |
FasL/ CD95L signaling |
Ligand-dependent caspase activation |
Programmed Cell Death |
Regulated Necrosis |
Regulation by c-FLIP |
Regulation of necroptotic cell death |
RIPK1-mediated regulated necrosis |
Signal Transduction |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Autoimmune Lymphoproliferative Syndrome | 0.322171535 | 8 | 2 | BeFree_CLINVAR_MGD_ORPHANET |
Diabetes Mellitus, Insulin-Dependent | 0.160542884 | 3 | 0 | BeFree_MGD_RGD |
Lupus Erythematosus, Systemic | 0.137631247 | 14 | 1 | BeFree_CTD_human_GAD_LHGDN |
melanoma | 0.136902798 | 11 | 0 | BeFree_CTD_human_GAD_LHGDN |
Rheumatoid Arthritis | 0.123810118 | 6 | 2 | BeFree_CTD_human_LHGDN |
Cardiomyopathies | 0.12272435 | 2 | 0 | CTD_human_LHGDN |
Atherosclerosis | 0.12272435 | 2 | 0 | CTD_human_LHGDN |
Non-Small Cell Lung Carcinoma | 0.121085767 | 4 | 1 | BeFree_CTD_human |
Hepatitis | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Autoimmune Lymphoproliferative Syndrome, Type IB | 0.12 | 0 | 1 | CLINVAR |
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