ACE (angiotensin I converting enzyme)

基因基本信息

基因基本信息

symbol:
ACE
locus group:
protein-coding gene
location:
17q23.3
gene_family:
CD molecules
alias symbol:
ACE1|CD143
alias name:
peptidyl-dipeptidase A
entrez id:
1636
ensembl gene id:
ENSG00000159640
ucsc gene id:
uc002jau.4
refseq accession:
NM_000789
hgnc_id:
HGNC:2707
approved reserved:
1989-06-06

基因染色体位置

基因染色体位置

17q23.3
基因染色体位置图

基因简述

基因简述

ACE（血管紧张素转换酶）是一种关键酶，属于锌金属肽酶家族M2，主要参与肾素-血管紧张素系统（RAS）的调节。它的主要功能是将血管紧张素I转化为具有强烈血管收缩作用的血管紧张素II，同时降解缓激肽（一种血管舒张肽）。ACE在血压调节、电解质平衡和心血管功能中发挥核心作用，主要表达于血管内皮细胞、肾脏、肺和睾丸等组织。该基因位于人类17号染色体上（17q23.3），属于ACE基因家族，该家族成员均含有锌结合基序（HEXXH）并参与肽类激素的加工。ACE存在两种亚型：体细胞型（主要在肺和血管表达）和睾丸型（仅在睾丸表达）。ACE基因突变可能导致酶活性改变，与多种疾病相关，如高血压、心血管疾病、阿尔茨海默病和糖尿病肾病。ACE过表达会导致血管紧张素II水平升高，引起血管收缩、血压升高及心脏肥大，同时缓激肽降解增加会减少其保护性作用；而ACE表达降低则可能改善高血压但增加感染风险。ACE抑制剂是临床上常用的降压药物，通过阻断血管紧张素II生成来发挥作用。该基因的插入/缺失（I/D）多态性影响血浆ACE水平，DD基因型与较高ACE活性及心血管疾病风险相关。此外，ACE还参与免疫调节、生殖和认知功能，其多态性也与运动能力差异有关。

This gene encodes an enzyme involved in catalyzing the conversion of angiotensin I into a physiologically active peptide angiotensin II. Angiotensin II is a potent vasopressor and aldosterone-stimulating peptide that controls blood pressure and fluid-electrolyte balance. This enzyme plays a key role in the renin-angiotensin system. Many studies have associated the presence or absence of a 287 bp Alu repeat element in this gene with the levels of circulating enzyme or cardiovascular pathophysiologies. Multiple alternatively spliced transcript variants encoding different isoforms have been identified, and two most abundant spliced variants encode the somatic form and the testicular form, respectively, that are equally active. [provided by RefSeq, May 2010]

该基??因编码参与催化血管紧张素I转化成生理活性肽血管紧张素II的酶。血管紧张素II是有效的血管加压和醛固酮刺激肽，控制血压和流体电解质平衡。这种酶起了肾素 - 血管紧张素系统的关键作用。许多研究都与循环酶或心血管病理生理学的水平有关在这个基因的287 bp的Alu重复元素的存在或不存在。多个可变剪接转录物变体编码不同同种型已被识别，并且两个最丰富剪接变体编码的躯体形式和睾丸的形式，分别是同样有效。 [由RefSeq的，2010年5月提供]

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

基因序列

基因序列

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

基因突变

基因突变

ACE基因的碱基突变：           仅显示部分snp
rs4291       rs4292       rs4293       rs4294       rs4295       rs4296       rs4297       rs4298       rs4299       rs4300       rs4301       rs4302       rs4303       rs4304       rs4305       rs4306       rs4307      

基因表达

基因表达

ACE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
GAATATGACCGGACATCCCA
59
GTAAAGGCCCAGAATCTTGC
59
CTACTGCAGGACTTCCCAG
60
ATCAGTCACCAGGTTTGGG
60
GACCTGGTGACTGATGAGG
60
GCATGTTCTTCTGCAGCAG
60
CTACTGCAGGACTTCCCAG
60
ATCAGTCACCAGGTTTGGG
60
CTATGCTAAAGCAGGGCTG
58
TTGTTCCAGAACTCAGGAGG
59
GAGCAGGATCTACTCCACC
59
ATGTTGGTGAGATCTGGGTC
60
GATCTGGCAGAACTTCACG
59
GGATGTTGGTGAGATCTGC
58
TCAAGTACTTCCAGCCAGTC
60
GACTGTCACCTATGCCCTC
60
AGGAAGCATTCTGGAGTAGG
59
TCATAAACCAGCCTAGGGA
57
GAACAAGTCGATGCTGGAG
59
AAAGTTGATGTCATGCTCGT
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）
CREM
ACE
Activation
8901568
EGR1
ACE
Activation
12433834
EGR1
ACE
Unknown
14679188
HIF1A
ACE
Activation
19592460
SP3
ACE
Unknown
14679188

基因本体信息

ACE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

ACE基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0004180
A0A0A0MSN4 (UniProtKB)
IEA
GO:0006508
A0A0A0MSN4 (UniProtKB)
IEA
GO:0008237
A0A0A0MSN4 (UniProtKB)
IEA
GO:0008241
A0A0A0MSN4 (UniProtKB)
IEA
GO:0016020
A0A0A0MSN4 (UniProtKB)
IEA
GO:0046872
A0A0A0MSN4 (UniProtKB)
IEA
GO:0006508
J3KRH5 (UniProtKB)
IEA
GO:0008237
J3KRH5 (UniProtKB)
IEA
GO:0008241
J3KRH5 (UniProtKB)
IEA
GO:0016020
J3KRH5 (UniProtKB)
IEA
GO:0004180
J3KS28 (UniProtKB)
IEA
GO:0006508
J3KS28 (UniProtKB)
IEA
GO:0008237
J3KS28 (UniProtKB)
IEA
GO:0008241
J3KS28 (UniProtKB)
IEA
GO:0016020
J3KS28 (UniProtKB)
IEA
GO:0046872
J3KS28 (UniProtKB)
IEA
GO:0006508
J3KSQ5 (UniProtKB)
IEA
GO:0008237
J3KSQ5 (UniProtKB)
IEA
GO:0008241
J3KSQ5 (UniProtKB)
IEA
GO:0016020
J3KSQ5 (UniProtKB)
IEA
GO:0004180
J3KTB8 (UniProtKB)
IEA
GO:0006508
J3KTB8 (UniProtKB)
IEA
GO:0008237
J3KTB8 (UniProtKB)
IEA
GO:0008241
J3KTB8 (UniProtKB)
IEA
GO:0016020
J3KTB8 (UniProtKB)
IEA
GO:0046872
J3KTB8 (UniProtKB)
IEA
GO:0006508
J3KTH9 (UniProtKB)
IEA
GO:0008237
J3KTH9 (UniProtKB)
IEA
GO:0008241
J3KTH9 (UniProtKB)
IEA
GO:0016020
J3KTH9 (UniProtKB)
IEA
GO:0006508
J3QLR4 (UniProtKB)
IEA
GO:0008237
J3QLR4 (UniProtKB)
IEA
GO:0008241
J3QLR4 (UniProtKB)
IEA
GO:0016020
J3QLR4 (UniProtKB)
IEA
GO:0006508
J3QRX8 (UniProtKB)
IEA
GO:0008237
J3QRX8 (UniProtKB)
IEA
GO:0008241
J3QRX8 (UniProtKB)
IEA
GO:0016020
J3QRX8 (UniProtKB)
IEA
GO:0001822
P12821 (UniProtKB)
IMP
GO:0001974
P12821 (UniProtKB)
IC
GO:0002003
P12821 (UniProtKB)
TAS
GO:0002003
P12821 (UniProtKB)
TAS
GO:0002003
P12821 (UniProtKB)
TAS
GO:0002005
P12821 (UniProtKB)
IC
GO:0002019
P12821 (UniProtKB)
IC
GO:0002446
P12821 (UniProtKB)
ISS
GO:0002474
P12821 (UniProtKB)
TAS
GO:0003081
P12821 (UniProtKB)
IC
GO:0003081
P12821 (UniProtKB)
IMP
GO:0003779
P12821 (UniProtKB)
IDA
GO:0004175
P12821 (UniProtKB)
IDA
GO:0004175
P12821 (UniProtKB)
IDA
GO:0004180
P12821 (UniProtKB)
IEA
GO:0005515
P12821 (UniProtKB)
IPI
GO:0005576
P12821 (UniProtKB)
TAS
GO:0005615
P12821 (UniProtKB)
IDA
GO:0005615
P12821 (UniProtKB)
IDA
GO:0005615
P12821 (UniProtKB)
IDA
GO:0005615
P12821 (UniProtKB)
IDA
GO:0005764
P12821 (UniProtKB)
IDA
GO:0005768
P12821 (UniProtKB)
IDA
GO:0005886
P12821 (UniProtKB)
IDA
GO:0005886
P12821 (UniProtKB)
IDA
GO:0005886
P12821 (UniProtKB)
TAS
GO:0005886
P12821 (UniProtKB)
TAS
GO:0007283
P12821 (UniProtKB)
ISS
GO:0008144
P12821 (UniProtKB)
IDA
GO:0008217
P12821 (UniProtKB)
ISS
GO:0008217
P12821 (UniProtKB)
ISS
GO:0008237
P12821 (UniProtKB)
ISS
GO:0008237
P12821 (UniProtKB)
IDA
GO:0008237
P12821 (UniProtKB)
IDA
GO:0008237
P12821 (UniProtKB)
IDA
GO:0008237
P12821 (UniProtKB)
IDA
GO:0008238
P12821 (UniProtKB)
IDA
GO:0008240
P12821 (UniProtKB)
IDA
GO:0008241
P12821 (UniProtKB)
ISS
GO:0008241
P12821 (UniProtKB)
IDA
GO:0008241
P12821 (UniProtKB)
IDA
GO:0008241
P12821 (UniProtKB)
IDA
GO:0008241
P12821 (UniProtKB)
IDA
GO:0008241
P12821 (UniProtKB)
IDA
GO:0008241
P12821 (UniProtKB)
IDA
GO:0008241
P12821 (UniProtKB)
IDA
GO:0008241
P12821 (UniProtKB)
IDA
GO:0008241
P12821 (UniProtKB)
IDA
GO:0008241
P12821 (UniProtKB)
IDA
GO:0008270
P12821 (UniProtKB)
IDA
GO:0009897
P12821 (UniProtKB)
IDA
GO:0014910
P12821 (UniProtKB)
ISS
GO:0016021
P12821 (UniProtKB)
IEA
GO:0019229
P12821 (UniProtKB)
IC
GO:0031404
P12821 (UniProtKB)
IDA
GO:0031434
P12821 (UniProtKB)
IPI
GO:0031711
P12821 (UniProtKB)
IPI
GO:0032943
P12821 (UniProtKB)
IC
GO:0042312
P12821 (UniProtKB)
IC
GO:0042447
P12821 (UniProtKB)
ISS
GO:0042447
P12821 (UniProtKB)
IDA
GO:0043171
P12821 (UniProtKB)
IDA
GO:0043171
P12821 (UniProtKB)
IDA
GO:0050435
P12821 (UniProtKB)
IDA
GO:0050435
P12821 (UniProtKB)
IDA
GO:0050482
P12821 (UniProtKB)
IDA
GO:0051019
P12821 (UniProtKB)
IPI
GO:0060047
P12821 (UniProtKB)
ISS
GO:0060177
P12821 (UniProtKB)
IDA
GO:0060218
P12821 (UniProtKB)
IC
GO:0061098
P12821 (UniProtKB)
ISS
GO:0070062
P12821 (UniProtKB)
IDA
GO:0070062
P12821 (UniProtKB)
IDA
GO:0070062
P12821 (UniProtKB)
IDA
GO:0070062
P12821 (UniProtKB)
IDA
GO:0070062
P12821 (UniProtKB)
IDA
GO:0070573
P12821 (UniProtKB)
EXP
GO:0070573
P12821 (UniProtKB)
EXP
GO:0070573
P12821 (UniProtKB)
EXP
GO:0070573
P12821 (UniProtKB)
EXP
GO:0071838
P12821 (UniProtKB)
ISS
GO:1900086
P12821 (UniProtKB)
ISS
GO:1902033
P12821 (UniProtKB)
ISS
GO:1902033
P12821 (UniProtKB)
IC
GO:1903597
P12821 (UniProtKB)
ISS
GO:2000170
P12821 (UniProtKB)
ISS

基因相关microRNA

基因相关microRNA

可能调控 ACE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

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
Myocardial Infarction 0.461938404 213 3 BeFree_CLINVAR_CTD_human_GAD_LHGDN_RGD
Hypertensive disease 0.44 508 13 BeFree_CTD_human_GAD_LHGDN_RGD
Allanson Pantzar McLeod syndrome 0.360814326 4 5 BeFree_CLINVAR_CTD_human_ORPHANET
Diabetic Nephropathy 0.332098819 146 4 BeFree_CTD_human_GAD_LHGDN_RGD
Left Ventricular Hypertrophy 0.317790009 108 0 BeFree_CTD_human_GAD_LHGDN_RGD
Alzheimer's Disease 0.307766523 58 0 BeFree_CTD_human_GAD_LHGDN_RGD
Cerebrovascular accident 0.30011871 82 2 BeFree_CTD_human_GAD_LHGDN_RGD
Heart failure 0.276795777 86 2 BeFree_CTD_human_GAD_LHGDN_RGD
Coronary Artery Disease 0.265255296 145 9 BeFree_CTD_human_GAD_LHGDN
Cardiovascular Diseases 0.260603275 193 6 BeFree_CTD_human_GAD_LHGDN

基因相关服务

基因相关服务

联系方式

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