NOD1 (nucleotide binding oligomerization domain containing 1)
- symbol:
- NOD1
- locus group:
- protein-coding gene
- location:
- 7p14.3
- gene_family:
- NLR family
- alias symbol:
- NLRC1|CLR7.1
- alias name:
- nucleotide-binding oligomerization…
- entrez id:
- 10392
- ensembl gene id:
- ENSG00000106100
- ucsc gene id:
- uc003tav.4
- refseq accession:
- NM_001354849
- hgnc_id:
- HGNC:16390
- approved reserved:
- 2001-12-11
NOD1（核苷酸结合寡聚化结构域1，Nucleotide-binding oligomerization domain-containing protein 1）是一种模式识别受体（PRR），属于NOD样受体（NLR）基因家族。该家族成员均含有中央的核苷酸结合寡聚化结构域（NOD domain）和C端的富含亮氨酸重复序列（LRR），负责识别病原体相关分子模式（PAMPs）或危险相关分子模式（DAMPs）。NOD1主要定位于细胞质，通过识别细菌肽聚糖的降解产物（如iE-DAP）激活NF-κB和MAPK信号通路，诱导促炎细胞因子（如IL-6、TNF-α）的产生，在先天免疫防御中起关键作用。其功能位点包括N端的CARD结构域（用于下游信号传导）、中央的NOD结构域（负责自我寡聚化）和C端的LRR（配体识别）。NOD1突变可能导致功能丧失或异常激活，与克罗恩病、哮喘、特应性皮炎等免疫相关疾病密切相关。例如，某些SNP（如rs2075820）会降低其对细菌产物的敏感性，增加感染风险；而过度激活则可能引发慢性炎症。过表达NOD1会增强炎症反应，可能导致自身免疫疾病或组织损伤；而表达降低则使机体易受细菌感染，尤其是革兰氏阴性菌。NOD1还通过调控肠道菌群平衡影响代谢性疾病（如糖尿病），并与肿瘤微环境相关——在某些癌症中高表达促进肿瘤生长，而在另一些情况下可能增强抗肿瘤免疫。NLR家族共性包括：均含NOD和LRR结构域、形成炎症小体（inflammasome）或信号复合物、参与免疫和细胞死亡调控。需要注意的是，NOD1与同家族的NOD2功能部分重叠但识别配体不同（NOD2识别MDP），且两者在疾病关联性上存在差异。
This gene encodes a member of the NOD (nucleotide-binding oligomerization domain) family. This member is a cytosolic protein. It contains an N-terminal caspase recruitment domain (CARD), a centrally located nucleotide-binding domain (NBD), and 10 tandem leucine-rich repeats (LRRs) in its C terminus. The CARD is involved in apoptotic signaling, LRRs participate in protein-protein interactions, and mutations in the NBD may affect the process of oligomerization and subsequent function of the LRR domain. This protein is an intracellular pattern-recognition receptor (PRR) that initiates inflammation in response to a subset of bacteria through the detection of bacterial diaminopimelic acid. Multiple alternatively spliced transcript variants differring in the 5' UTR have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Oct 2009]
该基因编码的NOD（核苷酸结合寡聚化结构域）家族的一员。该成员是一种胞浆蛋白。它包含在它的C-末端的N-末端蛋白酶募集结构域（CARD），位于中央的核苷酸结合结构域（NBD）和10串联富含亮氨酸的重复序列（个LRR）。该卡是涉及凋亡信号，个LRR参与蛋白质 - 蛋白质相互作用，并且在NBD突变可能影响低聚和LRR结构域的后续功能的过程。这种蛋白是在通过检测细菌二氨基庚二酸的响应于细菌的一个子集启动炎症的细胞内的模式识别受体（PRR）。多个可变剪接转录物变体的5‘端非编码区differring已经描述，但这些变体的全长性质尚未确定。 [由RefSeq的，2009年10月提供]
基因本体信息
NOD1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
NOD1基因的本体（GO）信息：
| 名称 |
|---|
| 4621 NOD-like receptor signaling pathway [PATH:hsa04621] |
| 5120 Epithelial cell signaling in Helicobacter pylori infection [PATH:hsa05120] |
| 5131 Shigellosis [PATH:hsa05131] |
| 5133 Pertussis [PATH:hsa05133] |
| 名称 |
|---|
| activated TAK1 mediates p38 MAPK activation |
| Activated TLR4 signalling |
| Cytokine Signaling in Immune system |
| Immune System |
| Innate Immune System |
| Interleukin-1 signaling |
| JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1 |
| MAP kinase activation in TLR cascade |
| MyD88 cascade initiated on plasma membrane |
| MyD88 dependent cascade initiated on endosome |
| MyD88-independent TLR3/TLR4 cascade |
| MyD88:Mal cascade initiated on plasma membrane |
| NOD1/2 Signaling Pathway |
| Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways |
| Signaling by Interleukins |
| TAK1 activates NFkB by phosphorylation and activation of IKKs complex |
| Toll Like Receptor 10 (TLR10) Cascade |
| Toll Like Receptor 2 (TLR2) Cascade |
| Toll Like Receptor 3 (TLR3) Cascade |
| Toll Like Receptor 4 (TLR4) Cascade |
| Toll Like Receptor 5 (TLR5) Cascade |
| Toll Like Receptor 7/8 (TLR7/8) Cascade |
| Toll Like Receptor 9 (TLR9) Cascade |
| Toll Like Receptor TLR1:TLR2 Cascade |
| Toll Like Receptor TLR6:TLR2 Cascade |
| Toll-Like Receptors Cascades |
| TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation |
| TRAF6 Mediated Induction of proinflammatory cytokines |
| TRIF-mediated TLR3/TLR4 signaling |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| nervous system disorder | 0.12 | 1 | 0 | CTD_human |
| Crohn Disease | 0.017088363 | 10 | 3 | BeFree_GAD_LHGDN |
| Inflammatory Bowel Diseases | 0.013711509 | 15 | 6 | BeFree_GAD_LHGDN |
| Asthma | 0.011454097 | 8 | 0 | BeFree_GAD_LHGDN |
| Inflammation | 0.008173051 | 3 | 0 | LHGDN |
| Ulcerative Colitis | 0.006091273 | 6 | 0 | BeFree_GAD |
| Sarcoidosis | 0.005362824 | 1 | 0 | BeFree_GAD_LHGDN |
| Dermatitis, Atopic | 0.002909916 | 2 | 0 | BeFree_GAD |
| Colonic Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Infection | 0.00272435 | 1 | 0 | LHGDN |
微信公众号
关注微信订阅号，实时查看信息，关注医学生物学动态。
版权所有 © 2025.Genelibs 济南弘晖生物技术有限公司 鲁ICP备13024435号-2
