CARD11 (caspase recruitment domain family member 11)
- symbol:
- CARD11
- locus group:
- protein-coding gene
- location:
- 7p22.2
- gene_family:
- alias symbol:
- CARMA1|BIMP3
- alias name:
- card-maguk protein 1|bcl10-interac…
- entrez id:
- 84433
- ensembl gene id:
- ENSG00000198286
- ucsc gene id:
- uc003smv.5
- refseq accession:
- NM_032415
- hgnc_id:
- HGNC:16393
- approved reserved:
- 2001-08-13
CARD11（Caspase Recruitment Domain Family Member 11）是CARD基因家族的重要成员，该家族蛋白的共同特点是含有Caspase募集结构域（CARD domain），这一结构域介导蛋白质间的相互作用，尤其在免疫信号通路中起关键作用。CARD11主要在淋巴细胞中表达，是NF-κB信号通路的核心调控因子，通过参与T细胞和B细胞受体信号传导，调控免疫细胞的活化、增殖及存活。其正常功能对适应性免疫应答至关重要。当CARD11发生功能获得性突变（如错义突变）时，会导致NF-κB通路持续激活，引发免疫失调，与B细胞淋巴瘤（如弥漫大B细胞淋巴瘤）、原发性免疫缺陷病（如BENTA疾病）及自身免疫性疾病密切相关。相反，功能丧失性突变会削弱免疫细胞应答，导致联合免疫缺陷。CARD11过表达会过度刺激NF-κB，可能诱发炎症性疾病或肿瘤；而表达降低则导致免疫缺陷，增加感染风险。该基因与家族成员CARD9、CARD10等共享CARD结构域，但各自调控不同通路——CARD9主要参与真菌免疫，CARD10则与GPCR信号相关。研究CARD11的突变谱和表达水平对精准免疫治疗及靶向药物开发（如NF-κB抑制剂）具有重要意义。
The protein encoded by this gene belongs to the membrane-associated guanylate kinase (MAGUK) family, a class of proteins that functions as molecular scaffolds for the assembly of multiprotein complexes at specialized regions of the plasma membrane. This protein is also a member of the CARD protein family, which is defined by carrying a characteristic caspase-associated recruitment domain (CARD). This protein has a domain structure similar to that of CARD14 protein. The CARD domains of both proteins have been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. When expressed in cells, this protein activated NF-kappaB and induced the phosphorylation of BCL10. [provided by RefSeq, Jul 2008]
由该基因编码的蛋白质属于膜相关鸟苷酸激酶（MAGUK）家族的一类蛋白质，其功能作为多蛋白复合物在质膜的专门区域中的组装分子支架。这种蛋白也是卡蛋白家族，其由携带特性胱天蛋白酶相关募集域（CARD）定义的成员。这种蛋白质具有类似于CARD14蛋白的结构域结构。两种蛋白质的CARD结构域已显示出特异性地与BCL10，已知充当细胞凋亡和NF-κB活化的正调节蛋白相互作用。当在细胞中表达，该蛋白活化的NF-κB和诱导BCL10的磷酸化。 [由RefSeq的，2008年7月提供]
基因本体信息
CARD11基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
CARD11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] |
| 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 |
| IMMUNODEFICIENCY 11 | 0.24 | 0 | 1 | CLINVAR_ORPHANET |
| Diffuse Large B-Cell Lymphoma | 0.123528744 | 15 | 0 | BeFree_CTD_human |
| Renal Cell Carcinoma | 0.12 | 1 | 0 | CTD_human |
| Dermatitis, Atopic | 0.12 | 1 | 0 | CTD_human |
| Adult T-Cell Lymphoma/Leukemia | 0.12 | 1 | 0 | CTD_human |
| Sezary Syndrome | 0.12 | 2 | 0 | CTD_human |
| Persistent Polyclonal B-Cell Lymphocytosis | 0.12 | 0 | 0 | ORPHANET |
| Lymphoma, T-Cell, Cutaneous | 0.12 | 1 | 0 | CTD_human |
| B-Cell Lymphomas | 0.003810118 | 5 | 0 | BeFree_LHGDN |
| Sepsis | 0.002367032 | 1 | 0 | GAD |
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