GNAI1 (G protein subunit alpha i1)
- symbol:
- GNAI1
- locus group:
- protein-coding gene
- location:
- 7q21.11
- gene_family:
- alias symbol:
- None
- alias name:
- Gi1 protein alpha subunit|Guanine …
- entrez id:
- 2770
- ensembl gene id:
- ENSG00000127955
- ucsc gene id:
- uc003uhb.2
- refseq accession:
- NM_002069
- hgnc_id:
- HGNC:4384
- approved reserved:
- 1988-05-11
GNAI1（Guanine Nucleotide Binding Protein Alpha Inhibiting Activity Polypeptide 1）属于G蛋白α亚基抑制性家族（Gi/o家族），该家族成员通过抑制腺苷酸环化酶（AC）活性来降低细胞内cAMP水平，从而调控多种信号通路。GNAI1编码的蛋白是异源三聚体G蛋白的α亚基，在GPCR（G蛋白偶联受体）信号转导中起核心作用，主要通过与Gi/o偶联的受体（如α2肾上腺素受体、阿片受体等）结合，抑制AC活性，影响细胞代谢、离子通道调控及基因表达。GNAI1在神经系统、心血管系统和免疫系统中广泛表达，参与调节神经元兴奋性、心率及炎症反应等生理过程。若GNAI1发生功能丧失性突变（如R178C），可能导致其GTP酶活性受损，无法有效终止信号传导，引发持续激活状态，与某些肿瘤（如肾上腺皮质癌）和神经系统疾病（如癫痫）相关。相反，功能获得性突变可能过度抑制cAMP通路，影响细胞增殖分化。GNAI1过表达会增强Gi信号抑制，导致cAMP水平异常降低，可能抑制神经元突触可塑性，与抑郁症或认知障碍有关；而表达降低可能使AC活性失控，增加cAMP，促进炎症或肿瘤生长。Gi/o家族共性包括：均通过Giα亚基与GPCR结合，共享效应分子（如AC、GIRK钾通道），并受RGS蛋白（GTP酶加速蛋白）调控。此外，GNAI1与GNAI2、GNAI3高度同源，但组织分布和受体偏好性略有差异。在疾病中，GNAI1异常表达还与乳腺癌转移和疼痛感知失调相关，其调控机制涉及表观遗传修饰（如启动子甲基化）。研究GNAI1有助于开发靶向Gi信号通路的药物，如用于镇痛或抗心律失常治疗。
Guanine nucleotide binding proteins are heterotrimeric signal-transducing molecules consisting of alpha, beta, and gamma subunits. The alpha subunit binds guanine nucleotide, can hydrolyze GTP, and can interact with other proteins. The protein encoded by this gene represents the alpha subunit of an inhibitory complex. The encoded protein is part of a complex that responds to beta-adrenergic signals by inhibiting adenylate cyclase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
鸟嘌呤核苷酸结合蛋白是异源信号转导分子选自α，β和γ亚基的。 α亚基结合鸟嘌呤核苷酸，能水解GTP，并且可以与其它蛋白质相互作用。由该基因编码的蛋白质代表的抑制复合物的α亚基。所编码的蛋白质是通过抑制腺苷酸环化酶来响应β-肾上腺素能信号的复合物的一部分。已发现该基因编码不同亚型的两个转录变异体。 [由RefSeq的，2012年1月提供]
基因本体信息
GNAI1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
GNAI1基因的本体（GO）信息：
| 名称 |
|---|
| 4015 Rap1 signaling pathway [PATH:hsa04015] |
| 4071 Sphingolipid signaling pathway [PATH:hsa04071] |
| 4024 cAMP signaling pathway [PATH:hsa04024] |
| 4022 cGMP - PKG signaling pathway [PATH:hsa04022] |
| 4530 Tight junction [PATH:hsa04530] |
| 4540 Gap junction [PATH:hsa04540] |
| 4611 Platelet activation [PATH:hsa04611] |
| 4670 Leukocyte transendothelial migration [PATH:hsa04670] |
| 4062 Chemokine signaling pathway [PATH:hsa04062] |
| 4915 Estrogen signaling pathway [PATH:hsa04915] |
| 4914 Progesterone-mediated oocyte maturation [PATH:hsa04914] |
| 4921 Oxytocin signaling pathway [PATH:hsa04921] |
| 4916 Melanogenesis [PATH:hsa04916] |
| 4261 Adrenergic signaling in cardiomyocytes [PATH:hsa04261] |
| 4971 Gastric acid secretion [PATH:hsa04971] |
| 4724 Glutamatergic synapse [PATH:hsa04724] |
| 4727 GABAergic synapse [PATH:hsa04727] |
| 4725 Cholinergic synapse [PATH:hsa04725] |
| 4728 Dopaminergic synapse [PATH:hsa04728] |
| 4726 Serotonergic synapse [PATH:hsa04726] |
| 4730 Long-term depression [PATH:hsa04730] |
| 4723 Retrograde endocannabinoid signaling [PATH:hsa04723] |
| 4360 Axon guidance [PATH:hsa04360] |
| 4713 Circadian entrainment [PATH:hsa04713] |
| 5200 Pathways in cancer [PATH:hsa05200] |
| 5012 Parkinson's disease [PATH:hsa05012] |
| 5030 Cocaine addiction [PATH:hsa05030] |
| 5032 Morphine addiction [PATH:hsa05032] |
| 5034 Alcoholism [PATH:hsa05034] |
| 5133 Pertussis [PATH:hsa05133] |
| 5145 Toxoplasmosis [PATH:hsa05145] |
| 5142 Chagas disease (American trypanosomiasis) [PATH:hsa05142] |
| 名称 |
|---|
| Activation of GABAB receptors |
| Adenylate cyclase inhibitory pathway |
| ADP signalling through P2Y purinoceptor 12 |
| Adrenaline,noradrenaline inhibits insulin secretion |
| G alpha (i) signalling events |
| G alpha (s) signalling events |
| G alpha (z) signalling events |
| G-protein activation |
| G-protein mediated events |
| GABA B receptor activation |
| GABA receptor activation |
| GPCR downstream signaling |
| Hemostasis |
| Inhibition of adenylate cyclase pathway |
| Integration of energy metabolism |
| Metabolism |
| Neuronal System |
| Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell |
| Opioid Signalling |
| Platelet activation, signaling and aggregation |
| PLC beta mediated events |
| Regulation of insulin secretion |
| Signal amplification |
| Signal Transduction |
| Signaling by GPCR |
| Transmission across Chemical Synapses |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Substance Withdrawal Syndrome | 0.12 | 1 | 0 | CTD_human |
| Amnesia | 0.12 | 1 | 0 | CTD_human |
| Cerebrovascular accident | 0.000271442 | 1 | 0 | BeFree |
| Senile Plaques | 0.000271442 | 1 | 0 | BeFree |
| Plaque, Amyloid | 0.000271442 | 1 | 0 | BeFree |
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