ATP1A1 (ATPase Na+/K+ transporting subunit alpha 1)
- symbol:
- ATP1A1
- locus group:
- protein-coding gene
- location:
- 1p13.1
- gene_family:
- P-type ATPases
- alias symbol:
- None
- alias name:
- sodium/potassium-transporting ATPa…
- entrez id:
- 476
- ensembl gene id:
- ENSG00000163399
- ucsc gene id:
- uc001ege.5
- refseq accession:
- NM_001160233
- hgnc_id:
- HGNC:799
- approved reserved:
- 1988-05-11
ATP1A1基因编码钠钾ATP酶（Na+/K+-ATP酶）的α1亚基，属于P型ATP酶家族。这个基因家族的主要共性是它们利用ATP水解产生的能量来主动转运离子，维持细胞膜两侧的离子梯度。钠钾ATP酶由α、β和γ三个亚基组成，其中α亚基是催化亚基，负责ATP水解和离子转运。ATP1A1主要在肾脏、脑和心脏中高表达，其功能是通过每水解一个ATP分子将3个钠离子泵出细胞外，同时将2个钾离子泵入细胞内，从而维持细胞的静息膜电位和细胞体积。这个电化学梯度对神经冲动传导、营养物质吸收和体液平衡等生理过程至关重要。ATP1A1的突变可能导致酶活性降低，与家族性偏瘫型偏头痛和快速发作性肌张力障碍等神经系统疾病相关。某些突变还会引起遗传性低镁血症，因为钠钾ATP酶功能异常会影响肾小管对镁离子的重吸收。ATP1A1过表达常见于某些癌症如肾细胞癌和胶质母细胞瘤，可能与癌细胞需要更高能量维持异常增殖有关。过表达会导致细胞内钠离子浓度降低、钾离子浓度升高，可能影响细胞周期调控和凋亡。相反，ATP1A1表达降低会影响神经元兴奋性和心脏收缩功能，严重时可导致心律失常或神经系统功能障碍。一些心脏病药物如地高辛就是通过抑制钠钾ATP酶来发挥治疗作用。此外，ATP1A1的表达受醛固酮等激素调节，在高血压发病机制中起重要作用。这个基因的多态性还与对某些利尿剂的治疗反应差异有关。
The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 1 subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
由该基因编码的蛋白质属于家庭P型阳离子运输ATP酶，并以钠/ K + -ATPases的亚科。的Na + / K + -ATP酶是负责跨质膜建立和维持Na和K离子的电化学梯度的整合膜蛋白。这些梯度是渗透调节必不可少的，对于各种有机和无机分子的钠耦合传输，以及用于神经和肌肉的电兴奋性。这种酶是由两个亚基，一个大的催化亚基（阿尔法）和一个较小的糖蛋白亚基（测试版）。的Na + / K + -ATP酶的催化亚基由多个基因编码。该基因编码的α1亚单位。已发现该基因编码不同亚型的多个抄本变形。 [由RefSeq的，2009年5月提供]
基因本体信息
ATP1A1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
ATP1A1基因的本体（GO）信息：
| 名称 |
|---|
| 4024 cAMP signaling pathway [PATH:hsa04024] |
| 4022 cGMP - PKG signaling pathway [PATH:hsa04022] |
| 4911 Insulin secretion [PATH:hsa04911] |
| 4918 Thyroid hormone synthesis [PATH:hsa04918] |
| 4919 Thyroid hormone signaling pathway [PATH:hsa04919] |
| 4260 Cardiac muscle contraction [PATH:hsa04260] |
| 4261 Adrenergic signaling in cardiomyocytes [PATH:hsa04261] |
| 4970 Salivary secretion [PATH:hsa04970] |
| 4971 Gastric acid secretion [PATH:hsa04971] |
| 4972 Pancreatic secretion [PATH:hsa04972] |
| 4976 Bile secretion [PATH:hsa04976] |
| 4973 Carbohydrate digestion and absorption [PATH:hsa04973] |
| 4974 Protein digestion and absorption [PATH:hsa04974] |
| 4978 Mineral absorption [PATH:hsa04978] |
| 4960 Aldosterone-regulated sodium reabsorption [PATH:hsa04960] |
| 4961 Endocrine and other factor-regulated calcium reabsorption [PATH:hsa04961] |
| 4964 Proximal tubule bicarbonate reclamation [PATH:hsa04964] |
| 名称 |
|---|
| Ion channel transport |
| Ion transport by P-type ATPases |
| Transmembrane transport of small molecules |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Hypertensive disease | 0.216359914 | 8 | 0 | BeFree_CTD_human_GAD_LHGDN_RGD |
| Adenoma | 0.120542884 | 4 | 0 | BeFree_CTD_human |
| Vestibular Diseases | 0.12 | 1 | 0 | CTD_human |
| Hyperaldosteronism | 0.12 | 1 | 0 | CTD_human |
| Myocardial Ischemia | 0.12 | 1 | 0 | CTD_human |
| Aldosterone-Producing Adrenal Cortex Adenoma | 0.12 | 0 | 3 | CLINVAR |
| Sensorineural Hearing Loss (disorder) | 0.08 | 1 | 0 | RGD |
| Rheumatoid Arthritis | 0.00272435 | 1 | 0 | LHGDN |
| Fetal Growth Retardation | 0.00272435 | 1 | 0 | LHGDN |
| Bipolar Disorder | 0.002638474 | 2 | 0 | BeFree_GAD |
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