KIR2DL1 (killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 1)
- symbol:
- KIR2DL1
- locus group:
- protein-coding gene
- location:
- 19q13.42
- gene_family:
- CD molecules|Immunoglobulin-like domain containing|Killer cell immunoglobulin-like receptors
- alias symbol:
- cl-42|nkat1|47.11|p58.1|CD158A
- alias name:
- None
- entrez id:
- 3802
- ensembl gene id:
- ENSG00000125498
- ucsc gene id:
- uc002qhb.2
- refseq accession:
- NM_014218
- hgnc_id:
- HGNC:6329
- approved reserved:
- 1997-11-14
KIR2DL1（杀伤细胞免疫球蛋白样受体2DL1）属于KIR基因家族，是自然杀伤（NK）细胞表面的一种抑制性受体，主要识别HLA-C分子上的特定抗原表位（如HLA-C2组）。其生物学功能是通过与HLA-C结合传递抑制信号，防止NK细胞攻击正常自身细胞，维持免疫耐受。该基因表达产物为跨膜蛋白，胞内段含有免疫受体酪氨酸抑制基序（ITIM），可招募磷酸酶抑制NK细胞活化。突变可能导致自身免疫疾病或NK细胞功能异常，如某些KIR2DL1变异与类风湿关节炎、病毒感染易感性相关。若过表达可能抑制NK细胞对肿瘤或感染细胞的杀伤，导致免疫监视功能下降；表达降低则可能引发自身免疫反应或过度炎症。KIR基因家族共有15个成员，分为抑制型（如KIR2DL1-3）和活化型（如KIR2DS1-4），均位于19号染色体，具有相似结构（2或3个胞外Ig样结构域），通过识别HLA-I分子调控免疫应答。该家族多态性极高，与移植排斥、妊娠并发症及传染病易感性密切相关。
Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]
杀伤细胞免疫球蛋白样受体（的KIRs）是通过自然杀伤细胞和T细胞亚群表达跨膜糖蛋白。的KIR基因多态和高度同源的并且它们中的1兆白细胞受体复合物（LRC）内染色体19q13.4群集找到。的KIR基因簇的基因含量的单倍型的不同而不同，虽然有几个“框架”的基因在所有的单倍型（KIR3DL3，KIR3DP1，KIR3DL4，KIR3DL2）找到。的KIR蛋白由细胞外免疫球蛋白结构域（2D或3D）的数目和由划分他们是否具有长（L）或短（S） - 胞质域。与长的胞质域的KIR蛋白质在配体经由一个基于免疫受体酪氨酸的抑制基序（ITIM）结合转导抑制性信号，同时与短胞质域KIR蛋白缺乏ITIM基序，而是与TYRO蛋白酪氨酸激酶关联结合蛋白转导激活信号。数KIR蛋白配体是HLA I类分子的子集;因而，KIR蛋白被认为在免疫应答的调节中发挥着重要作用。 [由RefSeq的，2008年7月提供]
基因本体信息
KIR2DL1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
KIR2DL1基因的本体（GO）信息：
| 名称 |
|---|
| 4650 Natural killer cell mediated cytotoxicity [PATH:hsa04650] |
| 4612 Antigen processing and presentation [PATH:hsa04612] |
| 5332 Graft-versus-host disease [PATH:hsa05332] |
| 名称 |
|---|
| Adaptive Immune System |
| Immune System |
| Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Diabetes Mellitus, Insulin-Dependent | 0.012106602 | 5 | 0 | BeFree_GAD |
| Lupus Erythematosus, Systemic | 0.00973957 | 5 | 0 | BeFree_GAD |
| leukemia | 0.00973957 | 5 | 0 | BeFree_GAD |
| Psoriasis | 0.009468128 | 4 | 0 | GAD |
| HIV Infections | 0.007915422 | 6 | 0 | BeFree_GAD |
| Spontaneous abortion | 0.007458414 | 3 | 0 | GAD_LHGDN |
| Graft-vs-Host Disease | 0.007101096 | 3 | 0 | GAD |
| Celiac Disease | 0.007101096 | 3 | 0 | GAD |
| Cervix carcinoma | 0.007101096 | 3 | 0 | GAD |
| Leukemia, Myelocytic, Acute | 0.005276948 | 4 | 0 | BeFree_GAD |
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