GRIN1 (glutamate ionotropic receptor NMDA type subunit 1)
- symbol:
- GRIN1
- locus group:
- protein-coding gene
- location:
- 9q34.3
- gene_family:
- Glutamate receptors, ionotropic
- alias symbol:
- GluN1
- alias name:
- None
- entrez id:
- 2902
- ensembl gene id:
- ENSG00000176884
- ucsc gene id:
- uc004cln.4
- refseq accession:
- NM_007327
- hgnc_id:
- HGNC:4584
- approved reserved:
- 1992-09-18
GRIN1基因编码NMDA型谷氨酸受体（NMDAR）的GluN1亚基，属于离子型谷氨酸受体家族。NMDAR是中枢神经系统中重要的兴奋性神经递质受体，由GRIN1（GluN1）与GRIN2（GluN2）或GRIN3（GluN3）亚基共同组成四聚体复合物。该受体对钙离子具有高通透性，其激活需要同时结合谷氨酸和甘氨酸（或D-丝氨酸），并依赖膜去极化以解除镁离子阻塞。GRIN1作为核心亚基，负责受体的基本结构和功能，而GRIN2/3亚基则调节受体特性。GRIN1突变可导致受体功能异常，与多种神经系统疾病相关，包括癫痫、智力障碍、精神分裂症和自闭症谱系障碍等。功能丧失性突变通常导致严重的神经发育障碍，而功能获得性突变则可能引起过度兴奋性神经毒性。GRIN1过表达可能增强突触可塑性，但也可能导致兴奋性毒性，与神经退行性疾病如阿尔茨海默病相关；表达降低则损害学习记忆功能。GRIN1属于GRIN基因家族，该家族成员均编码NMDAR亚基，具有相似的结构特征：包含胞外氨基端结构域、配体结合域、跨膜区和胞内羧基端。GRIN家族受体在中枢神经系统的突触可塑性、学习记忆和神经发育中起关键作用。
The protein encoded by this gene is a critical subunit of N-methyl-D-aspartate receptors, members of the glutamate receptor channel superfamily which are heteromeric protein complexes with multiple subunits arranged to form a ligand-gated ion channel. These subunits play a key role in the plasticity of synapses, which is believed to underlie memory and learning. Cell-specific factors are thought to control expression of different isoforms, possibly contributing to the functional diversity of the subunits. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]
由该基因编码的蛋白质是N-甲基-D-天冬氨酸受体的临界亚基，谷氨酸受体通道超家族的成员，其中是异聚蛋白质复合物与布置以形成配体门控离子通道的多个子单元。这些亚单位发挥突触的可塑性，这被认为是背后记忆和学习的关键作用。特定于小区的因素被认为控制不同同种型的表达，这可能有助于亚基的功能多样性。可变剪接转录物变体已有描述。 [由RefSeq的，2008年7月提供]
基因本体信息
GRIN1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
GRIN1基因的本体（GO）信息：
| 名称 |
|---|
| 4014 Ras signaling pathway [PATH:hsa04014] |
| 4015 Rap1 signaling pathway [PATH:hsa04015] |
| 4020 Calcium signaling pathway [PATH:hsa04020] |
| 4024 cAMP signaling pathway [PATH:hsa04024] |
| 4080 Neuroactive ligand-receptor interaction [PATH:hsa04080] |
| 4724 Glutamatergic synapse [PATH:hsa04724] |
| 4720 Long-term potentiation [PATH:hsa04720] |
| 4713 Circadian entrainment [PATH:hsa04713] |
| 5010 Alzheimer's disease [PATH:hsa05010] |
| 5014 Amyotrophic lateral sclerosis (ALS) [PATH:hsa05014] |
| 5016 Huntington's disease [PATH:hsa05016] |
| 5030 Cocaine addiction [PATH:hsa05030] |
| 5031 Amphetamine addiction [PATH:hsa05031] |
| 5033 Nicotine addiction [PATH:hsa05033] |
| 5034 Alcoholism [PATH:hsa05034] |
| 名称 |
|---|
| Activation of NMDA receptor upon glutamate binding and postsynaptic events |
| Axon guidance |
| CREB phosphorylation through the activation of CaMKII |
| CREB phosphorylation through the activation of Ras |
| Developmental Biology |
| EPH-Ephrin signaling |
| EPHB-mediated forward signaling |
| Neuronal System |
| Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell |
| Post NMDA receptor activation events |
| Ras activation uopn Ca2+ infux through NMDA receptor |
| Transmission across Chemical Synapses |
| Unblocking of NMDA receptor, glutamate binding and activation |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 8 | 0.24 | 1 | 2 | CLINVAR_UNIPROT |
| Psychotic Disorders | 0.120542884 | 3 | 0 | BeFree_CTD_human |
| Pain | 0.12 | 1 | 0 | CTD_human |
| Cocaine-Related Disorders | 0.12 | 2 | 0 | CTD_human |
| Schizophrenia | 0.104808288 | 20 | 0 | BeFree_GAD_LHGDN_MGD |
| Hypoxia-Ischemia, Brain | 0.08 | 1 | 0 | RGD |
| Placental Insufficiency | 0.08 | 1 | 0 | RGD |
| Bipolar Disorder | 0.008544182 | 6 | 0 | BeFree_GAD_LHGDN |
| Alcoholic Intoxication, Chronic | 0.00827274 | 5 | 0 | BeFree_GAD_LHGDN |
| Alzheimer's Disease | 0.002995792 | 2 | 0 | BeFree_LHGDN |
联系方式
山东省济南市章丘区文博路2号 齐鲁师范学院 genelibs生信实验室
山东省济南市高新区舜华路750号大学科技园北区F座4单元2楼
电话： 0531-88819269
E-mail: product@genelibs.com
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
