ESR1 (estrogen receptor 1)

基因基本信息

基因基本信息

symbol:
ESR1
locus group:
protein-coding gene
location:
6q25.1-q25.2
gene_family:
Nuclear hormone receptors
alias symbol:
NR3A1|Era|ER-alpha
alias name:
nuclear receptor subfamily 3 group…
entrez id:
2099
ensembl gene id:
ENSG00000091831
ucsc gene id:
uc003qom.5
refseq accession:
NM_000125
hgnc_id:
HGNC:3467
approved reserved:
2001-06-22

基因染色体位置

基因染色体位置

6q25.1-q25.2
基因染色体位置图

基因简述

基因简述

ESR1（雌激素受体1）是核受体超家族中雌激素受体家族的一员，主要介导雌激素的生物学效应。它作为一种配体激活的转录因子，在雌激素结合后发生构象变化，形成二聚体并进入细胞核，结合特定DNA序列（雌激素反应元件，ERE）或通过与其他转录因子相互作用来调控靶基因表达。ESR1广泛分布于乳腺、子宫、卵巢、骨骼、心血管系统和中枢神经系统等组织，参与调控生殖发育、骨代谢、心血管功能及认知行为等生理过程。该基因的突变或表达异常与多种疾病密切相关，如乳腺癌和子宫内膜癌中常见ESR1激活突变（如Y537S、D538G）导致激素非依赖性生长，而功能丧失突变则可能引发骨质疏松或雌激素抵抗综合征。ESR1过表达会增强雌激素信号通路活性，促进细胞增殖（增加乳腺癌风险），同时可能抑制NF-κB等炎症通路；低表达则可能导致生育障碍、骨密度下降和代谢紊乱。在基因家族层面，雌激素受体家族还包括ESR2（ERβ）和GPER（膜受体），它们共享高度保守的DNA结合域（DBD）和配体结合域（LBD），但组织分布和靶基因偏好不同——ESR1更主导生殖系统作用，ESR2侧重神经和免疫调节。临床中针对ESR1的调节策略（如他莫昔芬拮抗治疗）凸显其作为疾病靶点的重要性，而家族成员的功能互补也为开发组织特异性药物提供了可能。

None

无

OMIM数据库中对ESR1基因的介绍     Wikipedia数据库中对ESR1基因的介绍

基因序列

基因序列

ESR1基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

ESR1基因的碱基突变：           仅显示部分snp
rs488133       rs523736       rs528529       rs532010       rs532062       rs538098       rs543648       rs543650       rs575708       rs576330       rs655459       rs655890       rs712221       rs722029       rs722207       rs722208       rs722209      

基因表达

基因表达

ESR1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
TTCCGCATGATGAATCTGC
59
GCTTCTACATGTGAGATACCAG
59
CCTACTACCTGGAGAACGA
58
CGATTATCTGAATTTGGCCTG
58
CCTACTACCTGGAGAACGA
58
CGATTATCTGAATTTGGCCTG
58
ATGAAAGGTGGCTTTGTGG
59
AATCATCAGGATCTCTAGCCAG
59
ATGGGCTTACTGACCAACC
60
TATCCATCCTTTCTGGCACC
60
GCGACGACAAGTAAAGTGG
59
CAGATGCTTTGGTGTGGAG
59
TTCTGTAGCTACCAAAGAAGGA
59
GAAGAGATCTTTGTGCTTACTCC
59
CCTACTACCTGGAGAACGAG
59
GACACATATAGTCGTTATGTCCTG
59
GCATGATGAATCTGCAGGG
59
GACAGAAATGTGTACACTCCAG
59
GCATTCTACAGGAACCAGG
58
GAACCGAGATGATGTAGCC
58

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）
ARNT
ESR1
Unknown
17991765
BARD1
ESR1
Activation
20060929
BARX2
ESR1
Unknown
16636675
BRCA1
ESR1
Activation
20060929
DNMT1
ESR1
Unknown
21655924; 23242655
ESR1
ABCG2
Unknown
10342828
ESR1
AHR
Unknown
10620335
ESR1
AMH
Activation
13678390
ESR1
AR
Activation
22391641
ESR1
AVP
Unknown
11089536

基因本体信息

ESR1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

ESR1基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0003700
B0QYW7 (UniProtKB)
IEA
GO:0005634
B0QYW7 (UniProtKB)
IEA
GO:0006351
B0QYW7 (UniProtKB)
IEA
GO:0006355
B0QYW7 (UniProtKB)
IEA
GO:0008270
B0QYW7 (UniProtKB)
IEA
GO:0043401
B0QYW7 (UniProtKB)
IEA
GO:0043565
B0QYW7 (UniProtKB)
IEA
GO:0003700
H0Y4W6 (UniProtKB)
IEA
GO:0003707
H0Y4W6 (UniProtKB)
IEA
GO:0005496
H0Y4W6 (UniProtKB)
IEA
GO:0005634
H0Y4W6 (UniProtKB)
IEA
GO:0006351
H0Y4W6 (UniProtKB)
IEA
GO:0006355
H0Y4W6 (UniProtKB)
IEA
GO:0008270
H0Y4W6 (UniProtKB)
IEA
GO:0043401
H0Y4W6 (UniProtKB)
IEA
GO:0043565
H0Y4W6 (UniProtKB)
IEA
GO:0000122
P03372 (UniProtKB)
IMP
GO:0000790
P03372 (UniProtKB)
IDA
GO:0000790
P03372 (UniProtKB)
IDA
GO:0000978
P03372 (UniProtKB)
IDA
GO:0001046
P03372 (UniProtKB)
IDA
GO:0001077
P03372 (UniProtKB)
IDA
GO:0001223
P03372 (UniProtKB)
IEA
GO:0001547
P03372 (UniProtKB)
IEA
GO:0002076
P03372 (UniProtKB)
IEA
GO:0003682
P03372 (UniProtKB)
IDA
GO:0003700
P03372 (UniProtKB)
NAS
GO:0003707
P03372 (UniProtKB)
TAS
GO:0005496
P03372 (UniProtKB)
ISS
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005515
P03372 (UniProtKB)
IPI
GO:0005634
P03372 (UniProtKB)
IDA
GO:0005634
P03372 (UniProtKB)
IDA
GO:0005634
P03372 (UniProtKB)
IDA
GO:0005634
P03372 (UniProtKB)
IDA
GO:0005654
P03372 (UniProtKB)
TAS
GO:0005654
P03372 (UniProtKB)
TAS
GO:0005737
P03372 (UniProtKB)
IDA
GO:0005739
P03372 (UniProtKB)
IEA
GO:0005794
P03372 (UniProtKB)
IEA
GO:0005886
P03372 (UniProtKB)
IDA
GO:0006338
P03372 (UniProtKB)
NAS
GO:0006351
P03372 (UniProtKB)
TAS
GO:0006355
P03372 (UniProtKB)
NAS
GO:0006366
P03372 (UniProtKB)
IDA
GO:0006367
P03372 (UniProtKB)
TAS
GO:0007165
P03372 (UniProtKB)
TAS
GO:0007165
P03372 (UniProtKB)
TAS
GO:0007200
P03372 (UniProtKB)
ISS
GO:0007204
P03372 (UniProtKB)
ISS
GO:0008013
P03372 (UniProtKB)
IPI
GO:0008134
P03372 (UniProtKB)
IPI
GO:0008209
P03372 (UniProtKB)
IEA
GO:0008270
P03372 (UniProtKB)
IEA
GO:0010629
P03372 (UniProtKB)
IDA
GO:0010863
P03372 (UniProtKB)
ISS
GO:0016020
P03372 (UniProtKB)
NAS
GO:0016021
P03372 (UniProtKB)
IEA
GO:0019899
P03372 (UniProtKB)
IPI
GO:0019899
P03372 (UniProtKB)
IPI
GO:0030235
P03372 (UniProtKB)
NAS
GO:0030284
P03372 (UniProtKB)
NAS
GO:0030315
P03372 (UniProtKB)
IEA
GO:0030518
P03372 (UniProtKB)
ISS
GO:0030520
P03372 (UniProtKB)
NAS
GO:0031798
P03372 (UniProtKB)
IEA
GO:0032355
P03372 (UniProtKB)
IDA
GO:0032403
P03372 (UniProtKB)
IEA
GO:0034056
P03372 (UniProtKB)
IDA
GO:0034056
P03372 (UniProtKB)
IDA
GO:0034056
P03372 (UniProtKB)
IDA
GO:0035327
P03372 (UniProtKB)
IDA
GO:0036312
P03372 (UniProtKB)
IEA
GO:0038052
P03372 (UniProtKB)
IDA
GO:0038052
P03372 (UniProtKB)
IGI
GO:0042562
P03372 (UniProtKB)
IEA
GO:0042802
P03372 (UniProtKB)
IPI
GO:0042802
P03372 (UniProtKB)
IPI
GO:0042802
P03372 (UniProtKB)
IPI
GO:0042802
P03372 (UniProtKB)
IPI
GO:0043124
P03372 (UniProtKB)
IDA
GO:0043124
P03372 (UniProtKB)
IDA
GO:0043195
P03372 (UniProtKB)
IEA
GO:0043204
P03372 (UniProtKB)
IEA
GO:0043234
P03372 (UniProtKB)
IEA
GO:0043433
P03372 (UniProtKB)
IDA
GO:0043523
P03372 (UniProtKB)
IEA
GO:0043627
P03372 (UniProtKB)
IDA
GO:0045429
P03372 (UniProtKB)
IDA
GO:0045742
P03372 (UniProtKB)
IEA
GO:0045893
P03372 (UniProtKB)
IDA
GO:0045944
P03372 (UniProtKB)
IDA
GO:0045944
P03372 (UniProtKB)
IDA
GO:0045944
P03372 (UniProtKB)
IDA
GO:0045944
P03372 (UniProtKB)
IDA
GO:0046325
P03372 (UniProtKB)
IEA
GO:0046697
P03372 (UniProtKB)
IEA
GO:0048146
P03372 (UniProtKB)
IEA
GO:0048471
P03372 (UniProtKB)
IEA
GO:0048662
P03372 (UniProtKB)
IEA
GO:0050679
P03372 (UniProtKB)
IEA
GO:0051000
P03372 (UniProtKB)
IDA
GO:0051091
P03372 (UniProtKB)
IDA
GO:0051091
P03372 (UniProtKB)
IDA
GO:0051117
P03372 (UniProtKB)
IDA
GO:0060009
P03372 (UniProtKB)
IEA
GO:0060011
P03372 (UniProtKB)
IEA
GO:0060065
P03372 (UniProtKB)
IEA
GO:0060068
P03372 (UniProtKB)
IEA
GO:0060523
P03372 (UniProtKB)
IEA
GO:0060527
P03372 (UniProtKB)
IEA
GO:0060687
P03372 (UniProtKB)
IEA
GO:0060745
P03372 (UniProtKB)
IEA
GO:0060749
P03372 (UniProtKB)
IEA
GO:0060750
P03372 (UniProtKB)
IEA
GO:0070374
P03372 (UniProtKB)
IEA
GO:0071168
P03372 (UniProtKB)
IMP
GO:0071392
P03372 (UniProtKB)
ISS
GO:0071392
P03372 (UniProtKB)
IDA
GO:0090209
P03372 (UniProtKB)
IEA
GO:1901215
P03372 (UniProtKB)
IEA
GO:1903799
P03372 (UniProtKB)
IMP
GO:1990375
P03372 (UniProtKB)
IEA
GO:0003677
Q5T5H8 (UniProtKB)
IEA
GO:0005496
Q5T5H8 (UniProtKB)
IEA
GO:0005634
Q5T5H8 (UniProtKB)
IEA
GO:0006355
Q5T5H8 (UniProtKB)
IEA
GO:0030284
Q5T5H8 (UniProtKB)
IEA
GO:0043401
Q5T5H8 (UniProtKB)
IEA
GO:0003677
Q9H2M1 (UniProtKB)
IEA
GO:0003707
Q9H2M1 (UniProtKB)
NAS
GO:0005496
Q9H2M1 (UniProtKB)
IEA
GO:0005634
Q9H2M1 (UniProtKB)
IEA
GO:0006351
Q9H2M1 (UniProtKB)
IEA
GO:0006355
Q9H2M1 (UniProtKB)
IEA
GO:0030284
Q9H2M1 (UniProtKB)
IEA
GO:0043401
Q9H2M1 (UniProtKB)
IEA
GO:0003677
Q9H2M2 (UniProtKB)
IEA
GO:0005496
Q9H2M2 (UniProtKB)
IEA
GO:0005634
Q9H2M2 (UniProtKB)
IEA
GO:0006355
Q9H2M2 (UniProtKB)
IEA
GO:0030284
Q9H2M2 (UniProtKB)
IEA
GO:0043401
Q9H2M2 (UniProtKB)
IEA

基因相关microRNA

基因相关microRNA

可能调控 ESR1基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

Reactome

MINT

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
Mammary Neoplasms 0.298936256 453 1 BeFree_CTD_human_GAD_LHGDN
Myocardial Infarction 0.266742057 14 1 BeFree_CLINVAR_CTD_human_GAD_LHGDN
ESTROGEN RESISTANCE 0.242714419 11 0 BeFree_ORPHANET_UNIPROT
Malignant neoplasm of breast 0.24 2613 63 BeFree_GAD_MGD
Obesity 0.228632218 34 5 BeFree_CTD_human_GAD_RGD
Prostatic Intraepithelial Neoplasias 0.2 2 0 CTD_human_RGD
Mammary Neoplasms, Experimental 0.2 1 0 CTD_human_RGD
Alzheimer's Disease 0.169474618 27 2 BeFree_CTD_human_GAD_LHGDN
Coronary Artery Disease 0.164558869 25 0 BeFree_CTD_human_GAD_LHGDN
Neoplasm Metastasis 0.163480357 116 0 BeFree_CTD_human_LHGDN

基因相关服务

基因相关服务

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