APEX1 (apurinic/apyrimidinic endodeoxyribonuclease 1)

基因基本信息

基因基本信息

symbol:
APEX1
locus group:
protein-coding gene
location:
14q11.2
gene_family:
alias symbol:
APE|REF1|HAP1|APX|APEN|REF-1|APE-1
alias name:
None
entrez id:
328
ensembl gene id:
ENSG00000100823
ucsc gene id:
uc001vxi.4
refseq accession:
NM_001641
hgnc_id:
HGNC:587
approved reserved:
1997-05-22

基因染色体位置

基因染色体位置

14q11.2
基因染色体位置图

基因简述

基因简述

APEX1（也称为APE1或Ref-1）是一种多功能基因，属于AP核酸内切酶家族，主要参与DNA损伤修复和氧化还原调控。其编码的蛋白质APEX1具有两种核心功能：一是作为DNA碱基切除修复（BER）途径中的关键酶，负责修复由氧化或烷化剂引起的DNA损伤，特别是切除无碱基位点（AP位点）；二是作为氧化还原调控因子，通过调节转录因子（如NF-κB、HIF-1α等）的活性影响细胞应激反应、炎症和凋亡过程。APEX1的作用位点集中在细胞核内，但在某些条件下也会定位到线粒体，参与线粒体DNA的修复。突变或功能缺失可能导致基因组不稳定、加速衰老或增加癌症风险，例如某些遗传性BER缺陷与神经退行性疾病或肿瘤易感性相关。APEX1过表达常见于多种癌症（如乳腺癌、肺癌），与化疗耐药性和肿瘤进展相关，而敲低APEX1会导致细胞对氧化应激敏感并增强放疗/化疗效果。该基因家族（AP核酸内切酶家族）的共性包括保守的核酸酶结构域和参与DNA损伤修复的机制，但APEX1独特之处在于兼具修复与氧化还原调控的双重功能。此外，APEX1还通过调控血管生成因子（如VEGF）影响肿瘤微环境，其表达水平可能成为癌症预后标志物或治疗靶点。

Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site. This gene encodes the major AP endonuclease in human cells. Splice variants have been found for this gene; all encode the same protein. [provided by RefSeq, Jul 2008]

经常发生在自发水解DNA分子嘌呤/嘧啶（AP）位点，通过DNA损伤剂或通过DNA糖基化酶的删除特定的异常基地。 AP位点是预先诱变病变，会影响正常的DNA复制使单元格中包含系统可以发现并修复这些网站。 II级的AP核酸内切酶切割磷酸二酯骨架的5‘到AP位点。该基因编码在人类细胞中的主要的AP核酸内切酶。剪接变异体已经发现了这种基因;都编码相同的蛋白质。 [由RefSeq的，2008年7月提供]

OMIM数据库中对APEX1基因的介绍     Wikipedia数据库中对APEX1基因的介绍

基因序列

基因序列

APEX1基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

APEX1基因的碱基突变：           仅显示部分snp
rs4748       rs1048945       rs1049498       rs1065749       rs1130409       rs1713463       rs1760944       rs1803118       rs1803120       rs2307485       rs2307486       rs2307487       rs2307488       rs2307489       rs2307490       rs3094276       rs3120063      

基因表达

基因表达

APEX1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
TTTCTTACGGCATAGGCGA
59
CTGTTACCAGCACAAACGA
58
GATTAGATTGGGTAAAGGAAGAAGC
60
GTTCAGCTGGTAGTTTGTTCTC
59
TTTCTTACGGCATAGGCGA
59
CTGTTACCAGCACAAACGA
58
AAATATTGCTTCGGTGGGT
57
TTCAGGAACTTGCGAAAGG
58
AATATTGCTTCGGTGGGTG
58
TGCGACTTCTTCACAAACC
59
TTTCTTACGGCATAGGCGA
59
CTGTTACCAGCACAAACGA
58
GATTAGATTGGGTAAAGGAAGAAGC
60
GTTCAGCTGGTAGTTTGTTCTC
60
TTTCTTACGGCATAGGCGA
59
CTGTTACCAGCACAAACGA
58
TTTCTTACGGCATAGGCGA
59
CTGTTACCAGCACAAACGA
58
TTTCTTACGGCATAGGCGA
59
CTGTTACCAGCACAAACGA
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）
APEX1
CCL2
Activation
17045925
APEX1
CD19
Activation
10666449
APEX1
CYP11B2
Repression
22652909
APEX1
NFKB1
Activation
17045925
APEX1
PTH
Repression
14633989
APEX1
RELA
Activation
17045925
APEX1
SLC5A5
Activation
14630715
HIF1A
APEX1
Repression
19524065
SP1
APEX1
Repression
18208837
SP1
APEX1
Unknown
7534297

基因本体信息

APEX1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

APEX1基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0003677
A0A0C4DGK8 (UniProtKB)
IEA
GO:0003906
A0A0C4DGK8 (UniProtKB)
IEA
GO:0005634
A0A0C4DGK8 (UniProtKB)
IEA
GO:0005739
A0A0C4DGK8 (UniProtKB)
IEA
GO:0006281
A0A0C4DGK8 (UniProtKB)
IEA
GO:0046872
A0A0C4DGK8 (UniProtKB)
IEA
GO:0090305
A0A0C4DGK8 (UniProtKB)
IEA
GO:0090305
A0A0C4DGK8 (UniProtKB)
IEA
GO:0003677
G3V359 (UniProtKB)
IEA
GO:0003906
G3V359 (UniProtKB)
IEA
GO:0005634
G3V359 (UniProtKB)
IEA
GO:0005739
G3V359 (UniProtKB)
IEA
GO:0006281
G3V359 (UniProtKB)
IEA
GO:0046872
G3V359 (UniProtKB)
IEA
GO:0090305
G3V359 (UniProtKB)
IEA
GO:0090305
G3V359 (UniProtKB)
IEA
GO:0003677
G3V3C7 (UniProtKB)
IEA
GO:0003906
G3V3C7 (UniProtKB)
IEA
GO:0005634
G3V3C7 (UniProtKB)
IEA
GO:0005739
G3V3C7 (UniProtKB)
IEA
GO:0006281
G3V3C7 (UniProtKB)
IEA
GO:0046872
G3V3C7 (UniProtKB)
IEA
GO:0090305
G3V3C7 (UniProtKB)
IEA
GO:0090305
G3V3C7 (UniProtKB)
IEA
GO:0003677
G3V3M6 (UniProtKB)
IEA
GO:0003906
G3V3M6 (UniProtKB)
IEA
GO:0005634
G3V3M6 (UniProtKB)
IDA
GO:0005739
G3V3M6 (UniProtKB)
IEA
GO:0005813
G3V3M6 (UniProtKB)
IDA
GO:0006281
G3V3M6 (UniProtKB)
IEA
GO:0046872
G3V3M6 (UniProtKB)
IEA
GO:0090305
G3V3M6 (UniProtKB)
IEA
GO:0090305
G3V3M6 (UniProtKB)
IEA
GO:0003677
G3V5D9 (UniProtKB)
IEA
GO:0004519
G3V5D9 (UniProtKB)
IEA
GO:0005622
G3V5D9 (UniProtKB)
IEA
GO:0006281
G3V5D9 (UniProtKB)
IEA
GO:0090305
G3V5D9 (UniProtKB)
IEA
GO:0090305
G3V5D9 (UniProtKB)
IEA
GO:0003677
G3V5M0 (UniProtKB)
IEA
GO:0003906
G3V5M0 (UniProtKB)
IEA
GO:0005634
G3V5M0 (UniProtKB)
IEA
GO:0005739
G3V5M0 (UniProtKB)
IEA
GO:0006281
G3V5M0 (UniProtKB)
IEA
GO:0046872
G3V5M0 (UniProtKB)
IEA
GO:0090305
G3V5M0 (UniProtKB)
IEA
GO:0090305
G3V5M0 (UniProtKB)
IEA
GO:0003677
G3V5Q1 (UniProtKB)
IEA
GO:0003906
G3V5Q1 (UniProtKB)
IEA
GO:0005634
G3V5Q1 (UniProtKB)
IDA
GO:0005739
G3V5Q1 (UniProtKB)
IEA
GO:0005813
G3V5Q1 (UniProtKB)
IDA
GO:0006281
G3V5Q1 (UniProtKB)
IEA
GO:0046872
G3V5Q1 (UniProtKB)
IEA
GO:0090305
G3V5Q1 (UniProtKB)
IEA
GO:0090305
G3V5Q1 (UniProtKB)
IEA
GO:0003677
H7C4A8 (UniProtKB)
IEA
GO:0003906
H7C4A8 (UniProtKB)
IEA
GO:0005634
H7C4A8 (UniProtKB)
IEA
GO:0005739
H7C4A8 (UniProtKB)
IEA
GO:0006281
H7C4A8 (UniProtKB)
IEA
GO:0046872
H7C4A8 (UniProtKB)
IEA
GO:0090305
H7C4A8 (UniProtKB)
IEA
GO:0090305
H7C4A8 (UniProtKB)
IEA
GO:0000723
P27695 (UniProtKB)
IDA
GO:0000784
P27695 (UniProtKB)
IC
GO:0003677
P27695 (UniProtKB)
IDA
GO:0003684
P27695 (UniProtKB)
IDA
GO:0003684
P27695 (UniProtKB)
IDA
GO:0003684
P27695 (UniProtKB)
IDA
GO:0003691
P27695 (UniProtKB)
IDA
GO:0003713
P27695 (UniProtKB)
IDA
GO:0003714
P27695 (UniProtKB)
TAS
GO:0003906
P27695 (UniProtKB)
IDA
GO:0003906
P27695 (UniProtKB)
IDA
GO:0003906
P27695 (UniProtKB)
IDA
GO:0003906
P27695 (UniProtKB)
IDA
GO:0003906
P27695 (UniProtKB)
TAS
GO:0004519
P27695 (UniProtKB)
IDA
GO:0004520
P27695 (UniProtKB)
TAS
GO:0004523
P27695 (UniProtKB)
TAS
GO:0004528
P27695 (UniProtKB)
TAS
GO:0004844
P27695 (UniProtKB)
TAS
GO:0005515
P27695 (UniProtKB)
IPI
GO:0005515
P27695 (UniProtKB)
IPI
GO:0005515
P27695 (UniProtKB)
IPI
GO:0005515
P27695 (UniProtKB)
IPI
GO:0005515
P27695 (UniProtKB)
IPI
GO:0005515
P27695 (UniProtKB)
IPI
GO:0005515
P27695 (UniProtKB)
IPI
GO:0005515
P27695 (UniProtKB)
IPI
GO:0005515
P27695 (UniProtKB)
IPI
GO:0005515
P27695 (UniProtKB)
IPI
GO:0005515
P27695 (UniProtKB)
IPI
GO:0005515
P27695 (UniProtKB)
IPI
GO:0005515
P27695 (UniProtKB)
IPI
GO:0005515
P27695 (UniProtKB)
IPI
GO:0005515
P27695 (UniProtKB)
IPI
GO:0005515
P27695 (UniProtKB)
IPI
GO:0005515
P27695 (UniProtKB)
IPI
GO:0005515
P27695 (UniProtKB)
IPI
GO:0005515
P27695 (UniProtKB)
IPI
GO:0005515
P27695 (UniProtKB)
IPI
GO:0005515
P27695 (UniProtKB)
IPI
GO:0005515
P27695 (UniProtKB)
IPI
GO:0005515
P27695 (UniProtKB)
IPI
GO:0005515
P27695 (UniProtKB)
IPI
GO:0005515
P27695 (UniProtKB)
IPI
GO:0005634
P27695 (UniProtKB)
IDA
GO:0005634
P27695 (UniProtKB)
IDA
GO:0005634
P27695 (UniProtKB)
IDA
GO:0005634
P27695 (UniProtKB)
IDA
GO:0005654
P27695 (UniProtKB)
IDA
GO:0005654
P27695 (UniProtKB)
TAS
GO:0005654
P27695 (UniProtKB)
TAS
GO:0005654
P27695 (UniProtKB)
TAS
GO:0005654
P27695 (UniProtKB)
TAS
GO:0005654
P27695 (UniProtKB)
TAS
GO:0005654
P27695 (UniProtKB)
TAS
GO:0005654
P27695 (UniProtKB)
TAS
GO:0005654
P27695 (UniProtKB)
TAS
GO:0005654
P27695 (UniProtKB)
TAS
GO:0005654
P27695 (UniProtKB)
TAS
GO:0005654
P27695 (UniProtKB)
TAS
GO:0005654
P27695 (UniProtKB)
TAS
GO:0005654
P27695 (UniProtKB)
TAS
GO:0005654
P27695 (UniProtKB)
TAS
GO:0005654
P27695 (UniProtKB)
TAS
GO:0005654
P27695 (UniProtKB)
TAS
GO:0005654
P27695 (UniProtKB)
TAS
GO:0005654
P27695 (UniProtKB)
TAS
GO:0005654
P27695 (UniProtKB)
TAS
GO:0005654
P27695 (UniProtKB)
TAS
GO:0005654
P27695 (UniProtKB)
TAS
GO:0005667
P27695 (UniProtKB)
IEA
GO:0005730
P27695 (UniProtKB)
IDA
GO:0005730
P27695 (UniProtKB)
IDA
GO:0005737
P27695 (UniProtKB)
IDA
GO:0005739
P27695 (UniProtKB)
IDA
GO:0005783
P27695 (UniProtKB)
TAS
GO:0005813
P27695 (UniProtKB)
IDA
GO:0005840
P27695 (UniProtKB)
TAS
GO:0006281
P27695 (UniProtKB)
IDA
GO:0006284
P27695 (UniProtKB)
IDA
GO:0006284
P27695 (UniProtKB)
TAS
GO:0006286
P27695 (UniProtKB)
TAS
GO:0006310
P27695 (UniProtKB)
IEA
GO:0006351
P27695 (UniProtKB)
IEA
GO:0006355
P27695 (UniProtKB)
IEA
GO:0007568
P27695 (UniProtKB)
IEA
GO:0008081
P27695 (UniProtKB)
IDA
GO:0008081
P27695 (UniProtKB)
IDA
GO:0008309
P27695 (UniProtKB)
IDA
GO:0008311
P27695 (UniProtKB)
IBA
GO:0008408
P27695 (UniProtKB)
TAS
GO:0008408
P27695 (UniProtKB)
IDA
GO:0014912
P27695 (UniProtKB)
IEA
GO:0016491
P27695 (UniProtKB)
IDA
GO:0016491
P27695 (UniProtKB)
IDA
GO:0016607
P27695 (UniProtKB)
IDA
GO:0016890
P27695 (UniProtKB)
IDA
GO:0016890
P27695 (UniProtKB)
IDA
GO:0031490
P27695 (UniProtKB)
IDA
GO:0032403
P27695 (UniProtKB)
IEA
GO:0042493
P27695 (UniProtKB)
IEA
GO:0043488
P27695 (UniProtKB)
IMP
GO:0044822
P27695 (UniProtKB)
IDA
GO:0045454
P27695 (UniProtKB)
IEA
GO:0045739
P27695 (UniProtKB)
IDA
GO:0046872
P27695 (UniProtKB)
IDA
GO:0048471
P27695 (UniProtKB)
IDA
GO:0051059
P27695 (UniProtKB)
IEA
GO:0055114
P27695 (UniProtKB)
IEA
GO:0070301
P27695 (UniProtKB)
IEA
GO:0071320
P27695 (UniProtKB)
IEA
GO:0071375
P27695 (UniProtKB)
IEA
GO:0080111
P27695 (UniProtKB)
IDA
GO:0090502
P27695 (UniProtKB)
IEA
GO:1900087
P27695 (UniProtKB)
IEA
GO:1903507
P27695 (UniProtKB)
IEA

基因相关microRNA

基因相关microRNA

可能调控 APEX1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
Seizures 0.2 2 0 CTD_human_RGD
melanoma 0.133907006 8 0 BeFree_CTD_human_GAD_LHGDN
Stomach Neoplasms 0.127101096 4 0 CTD_human_GAD
Liver carcinoma 0.124895885 8 0 BeFree_CTD_human_LHGDN
Disease Progression 0.12 1 0 CTD_human
Micronuclei, Chromosome-Defective 0.12 1 0 CTD_human
Heart Diseases 0.12 1 0 CTD_human
Prostatic Neoplasms 0.12 1 0 CTD_human
Brain Ischemia 0.08 1 0 RGD
Lung diseases 0.08 1 0 RGD

基因相关服务

基因相关服务

联系方式

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