The protein encoded by this gene is proteolytically processed to release a secreted peptide termed endothelin 1. This peptide is a potent vasoconstrictor and is produced by vascular endothelial cells. Endothelin 1 also can affect the central nervous system. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2009]
由该基因编码的蛋白质被蛋白水解加工以释放分泌肽称为内皮素1,该肽是一种强效血管收缩剂,是由血管内皮细胞产生。内皮素1也可影响中枢神经系统。已发现该基因编码不同亚型的两个转录变异体。 [由RefSeq的,2009年11月提供]
EDN1基因(以及对应的蛋白质)的细胞分布位置:
EDN1基因的本体(GO)信息:
名称 |
---|
4668 TNF signaling pathway [PATH:hsa04668] |
4066 HIF-1 signaling pathway [PATH:hsa04066] |
4080 Neuroactive ligand-receptor interaction [PATH:hsa04080] |
4916 Melanogenesis [PATH:hsa04916] |
4270 Vascular smooth muscle contraction [PATH:hsa04270] |
5410 Hypertrophic cardiomyopathy (HCM) [PATH:hsa05410] |
名称 |
---|
Class A/1 (Rhodopsin-like receptors) |
G alpha (q) signalling events |
Gastrin-CREB signalling pathway via PKC and MAPK |
GPCR downstream signaling |
GPCR ligand binding |
Peptide ligand-binding receptors |
Signal Transduction |
Signaling by GPCR |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Hypertensive disease | 0.256027611 | 69 | 1 | BeFree_CTD_human_GAD_LHGDN_RGD |
QUESTION MARK EARS, ISOLATED | 0.240271442 | 1 | 2 | BeFree_CLINVAR_UNIPROT |
AURICULOCONDYLAR SYNDROME 3 | 0.24 | 1 | 2 | CLINVAR_UNIPROT |
Heart failure | 0.217545371 | 24 | 1 | BeFree_CTD_human_GAD_LHGDN_RGD |
Left Ventricular Hypertrophy | 0.213278246 | 8 | 0 | BeFree_CTD_human_GAD_LHGDN_RGD |
Pulmonary Hypertension | 0.212516121 | 24 | 0 | BeFree_CTD_human_LHGDN_RGD |
Diabetes Mellitus, Non-Insulin-Dependent | 0.209001189 | 11 | 1 | BeFree_CTD_human_GAD_RGD |
Pulmonary Fibrosis | 0.20680591 | 9 | 0 | BeFree_CTD_human_LHGDN_RGD |
Cardiomegaly | 0.20272435 | 3 | 0 | CTD_human_LHGDN_RGD |
Renal Insufficiency | 0.200271442 | 3 | 0 | BeFree_CTD_human_RGD |
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