EDN1 (endothelin 1)

基因基本信息

基因基本信息

symbol:
EDN1
locus group:
protein-coding gene
location:
6p24.1
gene_family:
Endogenous ligands
alias symbol:
ET1
alias name:
None
entrez id:
1906
ensembl gene id:
ENSG00000078401
ucsc gene id:
uc003nae.5
refseq accession:
NM_001955
hgnc_id:
HGNC:3176
approved reserved:
1989-04-06

基因染色体位置

基因染色体位置

6p24.1
基因染色体位置图

基因简述

基因简述

EDN1（内皮素1）是一种由内皮细胞产生的强效血管收缩肽，属于内皮素基因家族（包括EDN1、EDN2、EDN3）。该基因家族编码的蛋白质均为21个氨基酸的肽类激素，通过激活G蛋白偶联受体（ETA和ETB）调控血管张力、细胞增殖和组织发育。EDN1主要在血管内皮细胞中表达，其生物学功能包括调节血管收缩、血压稳态、细胞生长分化以及参与炎症反应。它通过ETA受体介导血管收缩和平滑肌增殖，而ETB受体则促进血管舒张（通过释放一氧化氮）并清除循环中的内皮素。EDN1的突变或表达异常与多种疾病相关：过表达会导致高血压、肺动脉高压、慢性肾病和心脏肥大，因其持续血管收缩作用；而表达不足则可能引起血管发育缺陷。该基因与心血管疾病（如动脉粥样硬化）、癌症（通过促进肿瘤血管生成）和纤维化疾病（如肺纤维化）密切相关。EDN1还参与调控其他基因如eNOS（影响血管舒张）和TGF-β（促纤维化）的表达。在基因家族中，EDN2主要见于肾脏和肠道，EDN3则主导神经系统发育，家族共性为通过旁分泌/自分泌方式参与组织特异性调控。药物靶向EDN1受体（如波生坦）已用于治疗肺动脉高压。

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]

OMIM数据库中对EDN1基因的介绍     Wikipedia数据库中对EDN1基因的介绍

基因序列

基因序列

EDN1基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

EDN1基因的碱基突变：           仅显示部分snp
rs5369       rs5370       rs220014       rs220015       rs220016       rs220017       rs521824       rs1014505       rs1321054       rs1321055       rs1476046       rs1575055       rs1626492       rs1629862       rs1630736       rs1794849       rs1800541      

基因表达

基因表达

EDN1基因在不同组织中的表达：    [UniProt]

基因在不同组织中的表达图

基因引物

基因引物

正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
ATAGATGCCAATGTGCTAGC
58
CATAATGTCTTCAGCCCTGAG
59
TAGATGCCAATGTGCTAGC
58
CATAATGTCTTCAGCCCTGAG
59
TAGATGCCAATGTGCTAGC
58
ATAATGTCTTCAGCCCTGAG
57

转录因子

转录因子

转录因子
影响基因
影响类型
参考文献链接（PubMed）
FOXO1
EDN1
Unknown
19887561
HIF1A
EDN1
Activation
19783678
JUN
EDN1
Unknown
12208352
NFKB1
EDN1
Unknown
21334436
NR1H4
EDN1
Repression
16357303
RELA
EDN1
Unknown
21334436
STAT1
EDN1
Activation
20217138

基因本体信息

EDN1基因（以及对应的蛋白质）的细胞分布位置：

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 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

EDN1基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0000122
P05305 (UniProtKB)
IDA
GO:0001516
P05305 (UniProtKB)
IDA
GO:0001569
P05305 (UniProtKB)
IEA
GO:0001701
P05305 (UniProtKB)
IEA
GO:0001821
P05305 (UniProtKB)
IEA
GO:0003100
P05305 (UniProtKB)
IDA
GO:0005125
P05305 (UniProtKB)
IDA
GO:0005179
P05305 (UniProtKB)
IDA
GO:0005179
P05305 (UniProtKB)
IDA
GO:0005515
P05305 (UniProtKB)
IPI
GO:0005515
P05305 (UniProtKB)
IPI
GO:0005576
P05305 (UniProtKB)
TAS
GO:0005576
P05305 (UniProtKB)
TAS
GO:0005576
P05305 (UniProtKB)
TAS
GO:0005576
P05305 (UniProtKB)
TAS
GO:0005615
P05305 (UniProtKB)
IDA
GO:0005615
P05305 (UniProtKB)
IDA
GO:0005615
P05305 (UniProtKB)
IDA
GO:0005737
P05305 (UniProtKB)
IDA
GO:0006885
P05305 (UniProtKB)
IEA
GO:0007166
P05305 (UniProtKB)
IDA
GO:0007186
P05305 (UniProtKB)
IDA
GO:0007204
P05305 (UniProtKB)
IDA
GO:0007205
P05305 (UniProtKB)
IEA
GO:0007267
P05305 (UniProtKB)
IDA
GO:0007507
P05305 (UniProtKB)
IEA
GO:0007585
P05305 (UniProtKB)
IEA
GO:0007589
P05305 (UniProtKB)
IEA
GO:0008284
P05305 (UniProtKB)
IDA
GO:0008284
P05305 (UniProtKB)
IDA
GO:0009953
P05305 (UniProtKB)
IEA
GO:0010193
P05305 (UniProtKB)
IEA
GO:0010259
P05305 (UniProtKB)
IEA
GO:0010460
P05305 (UniProtKB)
IDA
GO:0010595
P05305 (UniProtKB)
TAS
GO:0010613
P05305 (UniProtKB)
IDA
GO:0010870
P05305 (UniProtKB)
IDA
GO:0014032
P05305 (UniProtKB)
IEA
GO:0014065
P05305 (UniProtKB)
IDA
GO:0014823
P05305 (UniProtKB)
IEA
GO:0014824
P05305 (UniProtKB)
TAS
GO:0014824
P05305 (UniProtKB)
IDA
GO:0014826
P05305 (UniProtKB)
IDA
GO:0015758
P05305 (UniProtKB)
IEA
GO:0016049
P05305 (UniProtKB)
IEA
GO:0019229
P05305 (UniProtKB)
IEA
GO:0019233
P05305 (UniProtKB)
IEA
GO:0019722
P05305 (UniProtKB)
IDA
GO:0019722
P05305 (UniProtKB)
IDA
GO:0030072
P05305 (UniProtKB)
IDA
GO:0030185
P05305 (UniProtKB)
IDA
GO:0030195
P05305 (UniProtKB)
TAS
GO:0030335
P05305 (UniProtKB)
IDA
GO:0030818
P05305 (UniProtKB)
IEA
GO:0031583
P05305 (UniProtKB)
IEA
GO:0031707
P05305 (UniProtKB)
IDA
GO:0031708
P05305 (UniProtKB)
IDA
GO:0031708
P05305 (UniProtKB)
IPI
GO:0032269
P05305 (UniProtKB)
IDA
GO:0032308
P05305 (UniProtKB)
IEA
GO:0032496
P05305 (UniProtKB)
IEA
GO:0033093
P05305 (UniProtKB)
IEA
GO:0033574
P05305 (UniProtKB)
IEA
GO:0034392
P05305 (UniProtKB)
IEA
GO:0034696
P05305 (UniProtKB)
IEA
GO:0035094
P05305 (UniProtKB)
IEA
GO:0035690
P05305 (UniProtKB)
IEA
GO:0035810
P05305 (UniProtKB)
IEA
GO:0035815
P05305 (UniProtKB)
IEA
GO:0035994
P05305 (UniProtKB)
IEA
GO:0042045
P05305 (UniProtKB)
IEA
GO:0042310
P05305 (UniProtKB)
IDA
GO:0042310
P05305 (UniProtKB)
IDA
GO:0042313
P05305 (UniProtKB)
IDA
GO:0042474
P05305 (UniProtKB)
IEA
GO:0042482
P05305 (UniProtKB)
IEA
GO:0042554
P05305 (UniProtKB)
IEA
GO:0043179
P05305 (UniProtKB)
IEA
GO:0043200
P05305 (UniProtKB)
IEA
GO:0043406
P05305 (UniProtKB)
IDA
GO:0043406
P05305 (UniProtKB)
IDA
GO:0043507
P05305 (UniProtKB)
IDA
GO:0044321
P05305 (UniProtKB)
IEA
GO:0045178
P05305 (UniProtKB)
IEA
GO:0045321
P05305 (UniProtKB)
TAS
GO:0045429
P05305 (UniProtKB)
TAS
GO:0045793
P05305 (UniProtKB)
IDA
GO:0045840
P05305 (UniProtKB)
IDA
GO:0045944
P05305 (UniProtKB)
IEA
GO:0045987
P05305 (UniProtKB)
IEA
GO:0046887
P05305 (UniProtKB)
IDA
GO:0046888
P05305 (UniProtKB)
IEA
GO:0048016
P05305 (UniProtKB)
IDA
GO:0048237
P05305 (UniProtKB)
IEA
GO:0048661
P05305 (UniProtKB)
IDA
GO:0051216
P05305 (UniProtKB)
IEA
GO:0051482
P05305 (UniProtKB)
IEA
GO:0051771
P05305 (UniProtKB)
IDA
GO:0051899
P05305 (UniProtKB)
IEA
GO:0051930
P05305 (UniProtKB)
IEA
GO:0060137
P05305 (UniProtKB)
IEA
GO:0060298
P05305 (UniProtKB)
IMP
GO:0060585
P05305 (UniProtKB)
IMP
GO:0070101
P05305 (UniProtKB)
IC
GO:0071277
P05305 (UniProtKB)
IEA
GO:0071346
P05305 (UniProtKB)
IEA
GO:0071347
P05305 (UniProtKB)
IEA
GO:0071356
P05305 (UniProtKB)
IEA
GO:0071375
P05305 (UniProtKB)
IEA
GO:0071385
P05305 (UniProtKB)
IEA
GO:0071389
P05305 (UniProtKB)
IEA
GO:0071398
P05305 (UniProtKB)
IEA
GO:0071456
P05305 (UniProtKB)
IEA
GO:0071548
P05305 (UniProtKB)
IEA
GO:0071560
P05305 (UniProtKB)
IEA
GO:1902074
P05305 (UniProtKB)
IEA
GO:0030593
P05305 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 EDN1基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

Reactome

BioGrid

IntAct

mentha

String

基因与其他基因之间的相互作用关系图
序号 作用方式 资源库来源/分值 基因名称 基因名称

基因通路

基因通路

基因相关疾病

基因相关疾病

疾病名称 关系值 NofPmids NofSnps 来源
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

基因相关服务

基因相关服务

联系方式

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