GRIA1 (glutamate ionotropic receptor AMPA type subunit 1)
- symbol:
- GRIA1
- locus group:
- protein-coding gene
- location:
- 5q33.2
- gene_family:
- Glutamate receptors, ionotropic
- alias symbol:
- GluA1|GLURA
- alias name:
- None
- entrez id:
- 2890
- ensembl gene id:
- ENSG00000155511
- ucsc gene id:
- uc003luy.5
- refseq accession:
- NM_000827
- hgnc_id:
- HGNC:4571
- approved reserved:
- 1992-02-13
GRIA1（谷氨酸离子型受体AMPA型亚基1）基因编码AMPA型谷氨酸受体的重要亚基GluA1，属于离子型谷氨酸受体家族（iGluRs）。该家族负责中枢神经系统的快速兴奋性神经传递，其成员均具有跨膜结构域，通过结合谷氨酸介导突触后膜去极化。GRIA1主要在神经元中表达，对学习记忆、突触可塑性（如长时程增强LTP）起关键作用。其功能特点是形成钙离子通透性AMPA受体，参与突触强度的动态调节。该基因突变可导致受体功能异常，与多种神经系统疾病相关，如精神分裂症（与GRIA1单核苷酸多态性相关）、阿尔茨海默病（突触中GluA1表达减少）和癫痫（突变引起受体过度激活）。过表达GRIA1会增强突触传递效率但可能导致兴奋性毒性，而表达降低则损害学习记忆功能并影响BDNF等神经营养因子的作用。GRIA1与GRIA2/3/4组成AMPA受体亚家族，这些亚基通过不同组合形成异聚体，其中GRIA1赋予受体钙离子通透性，而GRIA2使受体钙离子不通透。该基因还参与神经发育过程，其表达水平受神经元活动调节，并与GRIN（NMDA受体）等其它iGluR家族成员协同调控神经信号传递。
Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes with multiple subunits, each possessing transmembrane regions, and all arranged to form a ligand-gated ion channel. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. This gene belongs to a family of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
None
基因本体信息
GRIA1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
GRIA1基因的本体（GO）信息：
| 名称 |
|---|
| 4024 cAMP signaling pathway [PATH:hsa04024] |
| 4080 Neuroactive ligand-receptor interaction [PATH:hsa04080] |
| 4724 Glutamatergic synapse [PATH:hsa04724] |
| 4728 Dopaminergic synapse [PATH:hsa04728] |
| 4720 Long-term potentiation [PATH:hsa04720] |
| 4730 Long-term depression [PATH:hsa04730] |
| 4723 Retrograde endocannabinoid signaling [PATH:hsa04723] |
| 4713 Circadian entrainment [PATH:hsa04713] |
| 5014 Amyotrophic lateral sclerosis (ALS) [PATH:hsa05014] |
| 5031 Amphetamine addiction [PATH:hsa05031] |
| 5033 Nicotine addiction [PATH:hsa05033] |
| 名称 |
|---|
| Activation of AMPA receptors |
| Activation of NMDA receptor upon glutamate binding and postsynaptic events |
| Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity |
| Neuronal System |
| Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell |
| Trafficking of AMPA receptors |
| Trafficking of GluR2-containing AMPA receptors |
| Transmission across Chemical Synapses |
| Unblocking of NMDA receptor, glutamate binding and activation |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Substance Withdrawal Syndrome | 0.120271442 | 3 | 0 | BeFree_CTD_human |
| Autistic Disorder | 0.12 | 1 | 0 | CTD_human |
| Hyperactive behavior | 0.12 | 2 | 0 | CTD_human |
| Hypotension | 0.12 | 1 | 0 | CTD_human |
| Morphine Dependence | 0.12 | 1 | 0 | CTD_human |
| Sudden Cardiac Arrest | 0.12 | 1 | 1 | GWASCAT |
| Cocaine-Related Disorders | 0.12 | 5 | 0 | CTD_human |
| Learning Disorders | 0.12 | 1 | 0 | CTD_human |
| Psychosexual Disorders | 0.12 | 1 | 0 | CTD_human |
| Epilepsy | 0.080814326 | 4 | 0 | BeFree_RGD |
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