CD3E(Cluster of Differentiation 3E)是T细胞受体(TCR)复合体的关键组成部分,属于CD3基因家族(包括CD3D、CD3E、CD3G和CD3Z)。该家族编码的蛋白均为跨膜蛋白,共同参与TCR的信号转导,帮助T细胞识别抗原并激活免疫应答。CD3E的生物学功能主要体现在与TCRα/β或TCRγ/δ链结合,形成稳定的TCR-CD3复合物,其胞内段含有免疫受体酪氨酸激活基序(ITAM),可招募激酶(如Lck、ZAP-70)启动下游信号通路,调控T细胞发育、增殖和效应功能。主要作用位点为T细胞表面,尤其在胸腺中参与T细胞阳性/阴性选择。CD3E突变可能导致严重联合免疫缺陷(SCID)或Omenn综合征,表现为T细胞缺失或功能异常,易感染病原体。与自身免疫病(如1型糖尿病)和T细胞淋巴瘤也有关联。若CD3E过表达,可能增强T细胞活化,但过度激活可能引发自身免疫反应;若表达降低(如某些病毒感染或免疫抑制治疗),会导致T细胞无能(anergy)或免疫缺陷。CD3基因家族的共性包括:均含ITAM结构域、依赖二硫键形成异源二聚体(如CD3E-CD3G)、在TCR表面表达中不可或缺。CD3E的异常表达还可影响其他免疫相关基因(如IL-2、IFN-γ)的转录,进而改变免疫微环境。
The protein encoded by this gene is the CD3-epsilon polypeptide, which together with CD3-gamma, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. The epsilon polypeptide plays an essential role in T-cell development. Defects in this gene cause immunodeficiency. This gene has also been linked to a susceptibility to type I diabetes in women. [provided by RefSeq, Jul 2008]
由该基因编码的蛋白质是CD3厄普西隆多肽,其用CD3-γ,-delta和-zeta,和T-细胞受体α/β和γ/三角异,一起形成的T细胞受体CD3复合。这种复杂起着抗原识别耦合到几个细胞内信号转导途径中起重要作用。编码的ε,γ和δ的多肽的基因位于同一集群中的11号染色体的小量多肽在T-细胞发育中起重要作用。缺陷这个基因导致免疫缺陷。这种基因也被链接到易感性键入妇女I型糖尿病。 [由RefSeq的,2008年7月提供]
CD3E基因(以及对应的蛋白质)的细胞分布位置:
CD3E基因的本体(GO)信息:
名称 |
---|
4640 Hematopoietic cell lineage [PATH:hsa04640] |
4660 T cell receptor signaling pathway [PATH:hsa04660] |
5340 Primary immunodeficiency [PATH:hsa05340] |
5166 HTLV-I infection [PATH:hsa05166] |
5162 Measles [PATH:hsa05162] |
5142 Chagas disease (American trypanosomiasis) [PATH:hsa05142] |
名称 |
---|
Adaptive Immune System |
Costimulation by the CD28 family |
Downstream TCR signaling |
Generation of second messenger molecules |
Immune System |
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell |
PD-1 signaling |
Phosphorylation of CD3 and TCR zeta chains |
TCR signaling |
Translocation of ZAP-70 to Immunological synapse |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Severe Combined Immunodeficiency | 0.120542884 | 3 | 0 | BeFree_CTD_human |
Immunologic Deficiency Syndromes | 0.120271442 | 2 | 0 | BeFree_CTD_human |
IMMUNODEFICIENCY 18 | 0.12 | 0 | 2 | CLINVAR |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive | 0.12 | 0 | 0 | CTD_human |
Inflammation | 0.12 | 1 | 0 | CTD_human |
Rheumatoid Arthritis | 0.12 | 1 | 0 | CTD_human |
Adenocarcinoma | 0.00272435 | 1 | 0 | LHGDN |
Renal Cell Carcinoma | 0.00272435 | 1 | 0 | LHGDN |
Carcinoma, Transitional Cell | 0.00272435 | 1 | 0 | LHGDN |
Celiac Disease | 0.002367032 | 1 | 0 | GAD |
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