KLRK1(Killer Cell Lectin Like Receptor K1)也称为NKG2D,是一种重要的免疫受体基因,属于C型凝集素样受体家族(CLEC家族)。它主要在自然杀伤细胞(NK细胞)、CD8+ T细胞和某些γδ T细胞表面表达,作为激活受体参与免疫应答。KLRK1编码的NKG2D蛋白通过与配体(如MICA、MICB和ULBP家族分子)结合,触发细胞毒性反应,清除感染或恶性转化的细胞。这些配体通常在应激、感染或肿瘤细胞表面异常表达,因此NKG2D在抗肿瘤和抗病毒免疫中起关键作用。KLRK1的功能突变可能影响受体与配体的结合效率,导致免疫监视功能下降,增加感染或癌症风险。例如,某些突变可能降低NK细胞对肿瘤细胞的杀伤能力。KLRK1过表达可能增强免疫细胞对异常细胞的清除,但也可能引发自身免疫反应,如攻击正常组织;而表达降低则可能导致免疫逃逸,使机体易受感染或肿瘤发展。该基因属于NKG2受体家族,其成员均具有C型凝集素样结构域,参与识别应激相关分子并调节免疫细胞活性。研究表明,某些病毒(如巨细胞病毒)和肿瘤会通过下调NKG2D配体或分泌可溶性配体来逃避免疫攻击,因此KLRK1通路是免疫治疗的重要靶点。此外,NKG2D信号异常还与类风湿性关节炎等自身免疫疾病相关,可能因持续激活导致组织损伤。
Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. The NKG2 gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed in NK cells. This gene encodes a member of the NKG2 family. The encoded transmembrane protein is characterized by a type II membrane orientation (has an extracellular C terminus) and the presence of a C-type lectin domain. It binds to a diverse family of ligands that include MHC class I chain-related A and B proteins and UL-16 binding proteins, where ligand-receptor interactions can result in the activation of NK and T cells. The surface expression of these ligands is important for the recognition of stressed cells by the immune system, and thus this protein and its ligands are therapeutic targets for the treatment of immune diseases and cancers. Read-through transcription exists between this gene and the upstream KLRC4 (killer cell lectin-like receptor subfamily C, member 4) family member in the same cluster. [provided by RefSeq, Dec 2010]
自然杀伤(NK)细胞是可介导某些肿瘤细胞和病毒感染细胞的裂解而不先前活化淋巴细胞。它们还可以调节特异性体液和细胞介导的??免疫。 NK细胞优先表达几种钙依赖性(C型)凝集素,已在NK细胞功能的调节有牵连。所述NKG2基因家族位于NK复杂,它包含在NK细胞中优先表达的几种C-型凝集素基因的区域内。该基因编码的NKG2家族的一个成员。所编码的跨膜蛋白的特征是II型膜取向(具有胞外C末端)和C型凝集素结构域的存在。它结合于不同的家族配体包括MHC I类链相关A和B蛋白和UL-16的结合蛋白,其中,配体 - 受体相互作用可导致NK细胞和T细胞的活化。这些配体的表面表达为识别强调细胞重要的免疫系统,因此,这种蛋白质和其配体是免疫疾病和癌症的治疗中的治疗目标。此基因和上游KLRC4(杀伤细胞凝集素样受体亚家族C,成员4)家族成员同一集群中之间存在通读转录。 [由RefSeq的,2010年12月提供]
KLRK1基因(以及对应的蛋白质)的细胞分布位置:
KLRK1基因的本体(GO)信息:
名称 |
---|
4650 Natural killer cell mediated cytotoxicity [PATH:hsa04650] |
5144 Malaria [PATH:hsa05144] |
名称 |
---|
Adaptive Immune System |
DAP12 interactions |
DAP12 signaling |
Immune System |
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell |
Innate Immune System |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
melanoma | 0.126534468 | 7 | 0 | BeFree_CTD_human_LHGDN |
Myocardial Reperfusion Injury | 0.08 | 1 | 0 | RGD |
Histiocytoma | 0.08 | 1 | 0 | RGD |
Colorectal Neoplasms | 0.005720142 | 3 | 0 | BeFree_LHGDN |
Hepatitis | 0.0054487 | 2 | 0 | LHGDN |
Infection | 0.0054487 | 2 | 0 | LHGDN |
Stomach Neoplasms | 0.0054487 | 2 | 0 | LHGDN |
Cholangiocarcinoma | 0.005362824 | 1 | 0 | BeFree_GAD_LHGDN |
Multiple Myeloma | 0.004895885 | 9 | 0 | BeFree_LHGDN |
Leukemia, Myelocytic, Acute | 0.003810118 | 4 | 0 | BeFree_LHGDN |
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