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Mammals have three different isoforms of cyclic GMP-dependent protein kinase (Ialpha, Ibeta, and II). These PRKG isoforms act as key mediators of the nitric oxide/cGMP signaling pathway and are important components of many signal transduction processes in diverse cell types. This PRKG1 gene on human chromosome 10 encodes the soluble Ialpha and Ibeta isoforms of PRKG by alternative transcript splicing. A separate gene on human chromosome 4, PRKG2, encodes the membrane-bound PRKG isoform II. The PRKG1 proteins play a central role in regulating cardiovascular and neuronal functions in addition to relaxing smooth muscle tone, preventing platelet aggregation, and modulating cell growth. This gene is most strongly expressed in all types of smooth muscle, platelets, cerebellar Purkinje cells, hippocampal neurons, and the lateral amygdala. Isoforms Ialpha and Ibeta have identical cGMP-binding and catalytic domains but differ in their leucine/isoleucine zipper and autoinhibitory sequences and therefore differ in their dimerization substrates and kinase enzyme activity. [provided by RefSeq, Sep 2011]
[中文简述(自动翻译):]  哺乳动物有环GMP依赖型蛋白激酶(Ialpha,Ibeta,和II)的三种不同的同种型。这些PRKG亚型充当一氧化氮/ cGMP信号通路的关键调解人,并在不同的细胞类型许多信号转导过程中的重要组成部分。人类染色体10这PRKG1基因编码由备选成绩单剪接PRKG的可溶性Ialpha和Ibeta亚型。人类4号染色体上的基因分离,PRKG2,编码膜结合PRKG亚型II。所述PRKG1蛋白在除了松弛平滑肌张力,防止血小板聚集,并调节细胞生长调节心血管和神经元功能的中心作用。该基因是在所有类型的平滑肌,血小板,小脑浦肯野细胞,海马神经元,和外侧杏仁核的最强烈表达。亚型Ialpha和Ibeta具有相同的cGMP结合和催化结构域但在他们的亮氨酸/异亮氨酸拉链和自动抑制序列不同,因此在他们的二聚化底物和激酶活性不同。 [由RefSeq的,2011年9月提供]
PRKG1基因(以及对应的蛋白质)的细胞分布位置:
PRKG1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
AORTIC ANEURYSM, FAMILIAL THORACIC 8 | 0.24 | 1 | 1 | CLINVAR_UNIPROT |
Asthma | 0.122367032 | 1 | 1 | GAD_GWASCAT |
Hearing Loss, Partial | 0.12 | 1 | 2 | GWASCAT |
Pulmonary Hypertension | 0.12 | 1 | 0 | CTD_human |
Precancerous Conditions | 0.12 | 1 | 0 | CTD_human |
Sezary Syndrome | 0.12 | 1 | 0 | CTD_human |
Migraine Disorders | 0.12 | 1 | 1 | GWASCAT |
Amphetamine-Related Disorders | 0.12 | 1 | 0 | CTD_human |
hearing impairment | 0.12 | 1 | 2 | GWASCAT |
Hypertensive disease | 0.082367032 | 2 | 0 | GAD_RGD |
Obesity | 0.080542884 | 3 | 0 | BeFree_RGD |
Diabetes Mellitus, Experimental | 0.08 | 2 | 0 | RGD |
Hypogonadism | 0.08 | 1 | 0 | RGD |
Myocardial Reperfusion Injury | 0.08 | 2 | 0 | RGD |
Pain | 0.08 | 1 | 0 | RGD |
Erectile dysfunction | 0.08 | 1 | 0 | RGD |
Allergic rhinitis (disorder) | 0.08 | 1 | 0 | RGD |
Cerebrovascular accident | 0.007372538 | 3 | 1 | BeFree_GAD |
Attention deficit hyperactivity disorder | 0.005005506 | 3 | 0 | BeFree_GAD |
Tobacco Use Disorder | 0.004734064 | 2 | 0 | GAD |
Cardiovascular Diseases | 0.002638474 | 2 | 0 | BeFree_GAD |
Alzheimer's Disease | 0.002367032 | 1 | 0 | GAD |
As If Personality | 0.002367032 | 1 | 0 | GAD |
Brain Ischemia | 0.002367032 | 1 | 0 | GAD |
Coronary heart disease | 0.002367032 | 1 | 0 | GAD |
Subarachnoid Hemorrhage | 0.002367032 | 1 | 0 | GAD |
Intracranial Hemorrhages | 0.002367032 | 1 | 0 | GAD |
Blood pressure finding | 0.002367032 | 1 | 2 | GAD |
Systemic arterial pressure | 0.002367032 | 1 | 2 | GAD |
Creatinine finding | 0.002367032 | 1 | 1 | GAD |
Cerebral Hemorrhage | 0.002367032 | 1 | 0 | GAD |
Anemia, Hemolytic | 0.000814326 | 3 | 0 | BeFree |
Phosphoglycerate Kinase 1 Deficiency | 0.000814326 | 3 | 0 | BeFree |
Adenoma | 0.000542884 | 2 | 0 | BeFree |
Choroideremia | 0.000542884 | 2 | 0 | BeFree |
Lymphoma | 0.000542884 | 2 | 0 | BeFree |
Parathyroid Adenoma | 0.000542884 | 2 | 0 | BeFree |
Liver carcinoma | 0.000542884 | 2 | 0 | BeFree |
Aortic Diseases | 0.000271442 | 1 | 0 | BeFree |
Mental disorders | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
Cerebral Infarction | 0.000271442 | 1 | 0 | BeFree |
Coronary Arteriosclerosis | 0.000271442 | 1 | 0 | BeFree |
Phyllodes Tumor | 0.000271442 | 1 | 0 | BeFree |
Decompression Sickness | 0.000271442 | 1 | 0 | BeFree |
Herpes Simplex Infections | 0.000271442 | 1 | 0 | BeFree |
leukemia | 0.000271442 | 1 | 0 | BeFree |
Leukodystrophy, Metachromatic | 0.000271442 | 1 | 0 | BeFree |
Liver neoplasms | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of stomach | 0.000271442 | 1 | 0 | BeFree |
Mucopolysaccharidoses | 0.000271442 | 1 | 0 | BeFree |
Spinal Muscular Atrophy | 0.000271442 | 1 | 0 | BeFree |
Papilloma | 0.000271442 | 1 | 0 | BeFree |
Polycythemia Vera | 0.000271442 | 1 | 0 | BeFree |
Preleukemia | 0.000271442 | 1 | 0 | BeFree |
Schistosomiasis | 0.000271442 | 1 | 0 | BeFree |
Wiskott-Aldrich Syndrome | 0.000271442 | 1 | 0 | BeFree |
Severe Combined Immunodeficiency | 0.000271442 | 1 | 0 | BeFree |
Left Ventricular Hypertrophy | 0.000271442 | 1 | 0 | BeFree |
Myocardial Ischemia | 0.000271442 | 1 | 0 | BeFree |
Aortic Aneurysm, Thoracic | 0.000271442 | 1 | 0 | BeFree |
Papilloma, Intraductal | 0.000271442 | 1 | 0 | BeFree |
Hereditary sideroblastic anemia | 0.000271442 | 1 | 0 | BeFree |
Memory impairment | 0.000271442 | 1 | 0 | BeFree |
acute aortic dissection | 0.000271442 | 1 | 0 | BeFree |
Impaired glucose tolerance | 0.000271442 | 1 | 0 | BeFree |
Growth Hormone-Secreting Pituitary Adenoma | 0.000271442 | 1 | 0 | BeFree |
Arrhythmogenic Right Ventricular Dysplasia | 0.000271442 | 1 | 0 | BeFree |
Hematologic Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Hyper-IgM Immunodeficiency Syndrome, Type 1 | 0.000271442 | 1 | 0 | BeFree |
X-Linked Lymphoproliferative Disorder | 0.000271442 | 1 | 0 | BeFree |
Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Deficiency of phosphoglycerate kinase | 0.000271442 | 1 | 0 | BeFree |
Stomach Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Dissecting aneurysm of the thoracic aorta | 0.000271442 | 1 | 0 | BeFree |
MYELODYSPLASTIC SYNDROME | 0.000271442 | 1 | 0 | BeFree |
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