BCL10(B细胞淋巴瘤10)是一种重要的基因,编码一种参与免疫信号传导的蛋白质,主要与NF-κB信号通路的激活相关。它在B细胞和T细胞的发育、增殖以及免疫应答中发挥关键作用。BCL10蛋白通过CARD(caspase募集结构域)与其他蛋白质(如MALT1和CARD11)相互作用,形成信号复合物,从而激活NF-κB,促进细胞存活和炎症反应。BCL10的突变或异常表达可能导致免疫系统功能紊乱,并与多种疾病相关,特别是淋巴瘤(如黏膜相关淋巴组织淋巴瘤,MALT淋巴瘤)和免疫缺陷疾病。某些染色体易位(如t(1;14))会导致BCL10过表达,进而异常激活NF-κB,促进肿瘤发生。相反,BCL10表达降低可能削弱免疫细胞的功能,导致免疫应答不足。BCL10属于CARD家族基因,该家族成员通常含有CARD结构域,参与细胞凋亡、炎症和免疫调节的信号传导。CARD家族蛋白的共同特点是能够通过同型相互作用形成复合物,调控下游信号通路。BCL10的异常表达不仅影响自身功能,还可能干扰其他CARD家族成员(如CARD11或CARD9)的活性,从而影响整体免疫平衡。因此,BCL10在免疫调节和疾病发生中具有重要作用,其表达水平的精确调控对维持机体健康至关重要。
This gene was identified by its translocation in a case of mucosa-associated lymphoid tissue (MALT) lymphoma. The protein encoded by this gene contains a caspase recruitment domain (CARD), and has been shown to induce apoptosis and to activate NF-kappaB. This protein is reported to interact with other CARD domain containing proteins including CARD9, 10, 11 and 14, which are thought to function as upstream regulators in NF-kappaB signaling. This protein is found to form a complex with MALT1, a protein encoded by another gene known to be translocated in MALT lymphoma. MALT1 and this protein are thought to synergize in the activation of NF-kappaB, and the deregulation of either of them may contribute to the same pathogenetic process that leads to the malignancy. [provided by RefSeq, Jul 2008]
此基因在黏膜相关淋巴组织(MALT)淋巴瘤的情况下识别通过其易位。由该基因编码的蛋白质包含胱天蛋白酶募集结构域(CARD),并且已经显示出诱导细胞凋亡并激活NF-κB的。这种蛋白质据报道与其它含CARD结构域蛋白,包括CARD9,10,11和14,这被认为是在NF-κB的信号充当上游调节相互作用。这种蛋白质被发现以形成具有MALT1,通过公知的在MALT淋巴瘤被易位另一个基因编码的蛋白质的复合物。 MALT1和该蛋白被认为是在NF-κB的活化,以协同,并且其中一方的失调可向相同致病过程,导致恶性肿瘤。 [由RefSeq的,2008年7月提供]
BCL10基因(以及对应的蛋白质)的细胞分布位置:
BCL10基因的本体(GO)信息:
| 名称 |
|---|
| 4064 NF-kappa B signaling pathway [PATH:hsa04064] |
| 4660 T cell receptor signaling pathway [PATH:hsa04660] |
| 4662 B cell receptor signaling pathway [PATH:hsa04662] |
| 5152 Tuberculosis [PATH:hsa05152] |
| 名称 |
|---|
| Activation of NF-kappaB in B cells |
| Adaptive Immune System |
| C-type lectin receptors (CLRs) |
| CLEC7A (Dectin-1) signaling |
| Downstream signaling events of B Cell Receptor (BCR) |
| Downstream TCR signaling |
| Fc epsilon receptor (FCERI) signaling |
| FCERI mediated NF-kB activation |
| Immune System |
| Innate Immune System |
| Signaling by the B Cell Receptor (BCR) |
| TCR signaling |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Mucosa-Associated Lymphoid Tissue Lymphoma | 0.149636822 | 61 | 3 | BeFree_CLINVAR_LHGDN |
| Lymphoma, Follicular | 0.122909916 | 3 | 6 | BeFree_CLINVAR_GAD |
| Malignant neoplasm of testis | 0.122367032 | 1 | 1 | CLINVAR_GAD |
| Colon Carcinoma | 0.120542884 | 2 | 1 | BeFree_CLINVAR |
| Mesothelioma | 0.120542884 | 2 | 2 | BeFree_CLINVAR |
| Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 0.120271442 | 1 | 1 | BeFree_CLINVAR |
| Sezary Syndrome | 0.12 | 0 | 1 | CLINVAR |
| Lymphoma | 0.014416214 | 25 | 0 | BeFree_LHGDN |
| B-Cell Lymphomas | 0.008891568 | 16 | 0 | BeFree_GAD_LHGDN |
| Diffuse Large B-Cell Lymphoma | 0.003452799 | 5 | 0 | BeFree_GAD |
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