KIR3DL1 (killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1)
- symbol:
- KIR3DL1
- locus group:
- protein-coding gene
- location:
- 19q13.42
- gene_family:
- CD molecules|Immunoglobulin-like domain containing|Killer cell immunoglobulin-like receptors
- alias symbol:
- cl-2|NKB1|cl-11|nkat3|NKB1B|AMB11|CD158e1/2|CD158E1|CD158e2
- alias name:
- None
- entrez id:
- 3811
- ensembl gene id:
- ENSG00000167633
- ucsc gene id:
- uc002qhk.5
- refseq accession:
- NM_013289
- hgnc_id:
- HGNC:6338
- approved reserved:
- 1995-12-20
KIR3DL1（杀伤细胞免疫球蛋白样受体3DL1）属于KIR基因家族，这是一组编码自然杀伤（NK）细胞表面受体的基因，主要参与免疫调节。KIR3DL1是一种抑制性受体，通过识别特定的MHC I类分子（如HLA-Bw4）传递抑制信号，防止NK细胞攻击正常细胞。该基因在免疫监视中起关键作用，帮助区分健康细胞和异常细胞（如病毒感染或癌细胞）。KIR3DL1的突变可能导致功能丧失，使NK细胞过度激活，增加自身免疫疾病风险；或功能增强，削弱抗病毒和抗肿瘤免疫应答。KIR3DL1与多种疾病相关，如艾滋病进展（某些等位基因可延缓HIV感染进程）、癌症易感性及妊娠并发症（如子痫前期）。过表达KIR3DL1可能过度抑制NK细胞活性，降低对病毒感染和肿瘤的防御能力；而低表达可能导致NK细胞过度活化，引发自身免疫反应。KIR基因家族的共性包括：位于19号染色体上的紧密连锁基因簇，编码的受体均含免疫球蛋白样结构域，通过识别MHC I类分子调节NK细胞功能，分为抑制型（如KIR3DL1）和活化型两类。该家族具有高度多态性，个体间差异显著，影响疾病易感性和免疫应答效率。
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
KIR3DL1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
KIR3DL1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 |
| HIV Infections | 0.148241224 | 47 | 0 | BeFree_CTD_human_GAD |
| AIDS, PROGRESSION TO | 0.12 | 0 | 0 | CLINVAR |
| Ankylosing spondylitis | 0.02162693 | 17 | 0 | BeFree_GAD_LHGDN |
| Diabetes Mellitus, Insulin-Dependent | 0.015363904 | 14 | 0 | BeFree_GAD |
| leukemia | 0.012539865 | 13 | 0 | BeFree_GAD_LHGDN |
| Graft-vs-Host Disease | 0.010358398 | 15 | 0 | BeFree_GAD |
| Lupus Erythematosus, Systemic | 0.009001189 | 8 | 0 | BeFree_GAD |
| Leukemia, Myelocytic, Acute | 0.00853425 | 15 | 0 | BeFree_GAD |
| Autoimmune Diseases | 0.007448483 | 12 | 0 | BeFree_GAD |
| Hepatitis C | 0.007177041 | 11 | 0 | BeFree_GAD |
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