XRCC5 (X-ray repair cross complementing 5)

基因基本信息

基因基本信息

symbol:
XRCC5
locus group:
protein-coding gene
location:
2q35
gene_family:
alias symbol:
KU80|KARP-1|Ku86|KUB2
alias name:
Ku autoantigen, 80kDa
entrez id:
7520
ensembl gene id:
ENSG00000079246
ucsc gene id:
uc002vfy.4
refseq accession:
NM_021141
hgnc_id:
HGNC:12833
approved reserved:
1992-01-22

基因染色体位置

基因染色体位置

2q35
基因染色体位置图

基因简述

基因简述

XRCC5（X-ray repair cross-complementing protein 5）是参与DNA双链断裂修复的关键基因，编码Ku80蛋白（也称为Ku86）。Ku80与Ku70（由XRCC6基因编码）形成异源二聚体Ku复合体，作为DNA依赖性蛋白激酶（DNA-PK）的核心组分，在非同源末端连接（NHEJ）修复途径中起核心作用。NHEJ是细胞修复DNA双链断裂的主要机制，尤其在细胞周期G1期占主导地位。Ku复合体通过识别并结合断裂的DNA末端，招募DNA-PK催化亚基（DNA-PKcs）及其他修复蛋白（如Artemis、XRCC4、Ligase IV等），完成DNA末端的加工与连接。XRCC5/Ku80的特点包括其高度保守的环形结构域，能环绕DNA双链并稳定断裂末端，防止降解或错误重组。该基因突变会导致NHEJ功能缺陷，表现为基因组不稳定、辐射敏感性增加及免疫系统异常（因V(D)J重组障碍），与多种癌症（如淋巴瘤、乳腺癌）、免疫缺陷病及早衰综合征相关。过表达XRCC5可能增强DNA修复能力，降低突变积累，但可能促进肿瘤细胞抵抗放疗/化疗；而表达降低则导致修复缺陷，增加染色体畸变风险。XRCC5属于Ku基因家族（含XRCC5和XRCC6），家族成员均具有DNA末端结合特性，通过协同作用维持基因组稳定性。研究还发现XRCC5在端粒维护、转录调控及病毒感染防御中有额外功能，其表达水平变化可能通过影响其他修复基因（如TP53、BRCA1）的活性间接调控细胞凋亡或周期检查点。

The protein encoded by this gene is the 80-kilodalton subunit of the Ku heterodimer protein which is also known as ATP-dependant DNA helicase II or DNA repair protein XRCC5. Ku is the DNA-binding component of the DNA-dependent protein kinase, and it functions together with the DNA ligase IV-XRCC4 complex in the repair of DNA double-strand break by non-homologous end joining and the completion of V(D)J recombination events. This gene functionally complements Chinese hamster xrs-6, a mutant defective in DNA double-strand break repair and in ability to undergo V(D)J recombination. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]

由该基因编码的蛋白质是喾异二聚体蛋白，其也被称为ATP依赖的DNA解旋酶II或DNA修复蛋白XRCC5的80千道尔顿亚单位。区是DNA依赖性蛋白激酶的DNA结合成分，并将其与在DNA双链断裂的通过非同源末端连接修复的DNA连接酶IV-XRCC4复杂和V的完成（D）的功能一起J重组事件。该基因功能的补充中国仓鼠XRS-6，在DNA双链断裂修复突变体缺陷并且在经过V（D）J重组的能力。在这个基因的罕见的微卫星多态性与癌症的放射敏感性不同的患者。 [由RefSeq的，2008年7月提供]

OMIM数据库中对XRCC5基因的介绍     Wikipedia数据库中对XRCC5基因的介绍

基因序列

基因序列

XRCC5基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

XRCC5基因的碱基突变：           仅显示部分snp
rs2440       rs3834       rs3835       rs6941       rs14908       rs118384       rs207876       rs207877       rs207878       rs207879       rs207880       rs207881       rs207882       rs207883       rs207905       rs207906       rs207907      

基因表达

基因表达

XRCC5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
AAGCCCTTCAAGAGAAAGTG
58
TGATCAGAGTAATTCCATCCTG
58
TCAACAGGCTGACTCTGAG
59
CCTCTTCTCAAACTTCTTTCCT
58
GGAATAAGGCAGCTGTTGTG
60
CATGGTTATCACCTTCTTTGCT
59
AAGAGATGATGAGGCAGCT
59
TATCGAACTATGGCCACCA
58
AAGCCCTTCAAGAGAAAGTG
58
TGATCAGAGTAATTCCATCCTG
58
TCCATTCCTGGTATAGAATCCC
59
GTTCTCAGCAAACACCTGTC
60
GTGTTTGCTGAGAACAAGGA
59
TAGTGCATCCAGGAAGTCAG
59
GTGATGTGGACGATTTATTGGA
59
AGAACTCCCAGCATCACAG
59
GCAAGAGATGATGAGGCAG
58
GAACTATGGCCACCATGTC
58
AAGCCCTTCAAGAGAAAGTG
58
TGATCAGAGTAATTCCATCCTG
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）
XRCC5
CD40
Unknown
17031478
XRCC5
ERBB2
Unknown
22899247
XRCC5
ETS1
Repression
19836356

基因本体信息

XRCC5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

XRCC5基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0000723
C9JZ81 (UniProtKB)
IEA
GO:0003684
C9JZ81 (UniProtKB)
IEA
GO:0006303
C9JZ81 (UniProtKB)
IEA
GO:0006310
C9JZ81 (UniProtKB)
IEA
GO:0042162
C9JZ81 (UniProtKB)
IEA
GO:0043564
C9JZ81 (UniProtKB)
IEA
GO:0000723
P13010 (UniProtKB)
TAS
GO:0000723
P13010 (UniProtKB)
TAS
GO:0000723
P13010 (UniProtKB)
TAS
GO:0000783
P13010 (UniProtKB)
TAS
GO:0000784
P13010 (UniProtKB)
IDA
GO:0000784
P13010 (UniProtKB)
IDA
GO:0003677
P13010 (UniProtKB)
NAS
GO:0003684
P13010 (UniProtKB)
IBA
GO:0003690
P13010 (UniProtKB)
TAS
GO:0004003
P13010 (UniProtKB)
IEA
GO:0005515
P13010 (UniProtKB)
IPI
GO:0005515
P13010 (UniProtKB)
IPI
GO:0005515
P13010 (UniProtKB)
IPI
GO:0005515
P13010 (UniProtKB)
IPI
GO:0005515
P13010 (UniProtKB)
IPI
GO:0005515
P13010 (UniProtKB)
IPI
GO:0005515
P13010 (UniProtKB)
IPI
GO:0005515
P13010 (UniProtKB)
IPI
GO:0005515
P13010 (UniProtKB)
IPI
GO:0005515
P13010 (UniProtKB)
IPI
GO:0005515
P13010 (UniProtKB)
IPI
GO:0005515
P13010 (UniProtKB)
IPI
GO:0005515
P13010 (UniProtKB)
IPI
GO:0005515
P13010 (UniProtKB)
IPI
GO:0005515
P13010 (UniProtKB)
IPI
GO:0005515
P13010 (UniProtKB)
IPI
GO:0005515
P13010 (UniProtKB)
IPI
GO:0005515
P13010 (UniProtKB)
IPI
GO:0005515
P13010 (UniProtKB)
IPI
GO:0005515
P13010 (UniProtKB)
IPI
GO:0005515
P13010 (UniProtKB)
IPI
GO:0005515
P13010 (UniProtKB)
IPI
GO:0005515
P13010 (UniProtKB)
IPI
GO:0005515
P13010 (UniProtKB)
IPI
GO:0005515
P13010 (UniProtKB)
IPI
GO:0005515
P13010 (UniProtKB)
IPI
GO:0005515
P13010 (UniProtKB)
IPI
GO:0005515
P13010 (UniProtKB)
IPI
GO:0005524
P13010 (UniProtKB)
IEA
GO:0005634
P13010 (UniProtKB)
IDA
GO:0005654
P13010 (UniProtKB)
IDA
GO:0005654
P13010 (UniProtKB)
TAS
GO:0005654
P13010 (UniProtKB)
TAS
GO:0005654
P13010 (UniProtKB)
TAS
GO:0005654
P13010 (UniProtKB)
TAS
GO:0005654
P13010 (UniProtKB)
TAS
GO:0005654
P13010 (UniProtKB)
TAS
GO:0005654
P13010 (UniProtKB)
TAS
GO:0005654
P13010 (UniProtKB)
TAS
GO:0005654
P13010 (UniProtKB)
TAS
GO:0005654
P13010 (UniProtKB)
TAS
GO:0005654
P13010 (UniProtKB)
TAS
GO:0005654
P13010 (UniProtKB)
TAS
GO:0005654
P13010 (UniProtKB)
TAS
GO:0005730
P13010 (UniProtKB)
IEA
GO:0005829
P13010 (UniProtKB)
TAS
GO:0005886
P13010 (UniProtKB)
IDA
GO:0006302
P13010 (UniProtKB)
IMP
GO:0006303
P13010 (UniProtKB)
TAS
GO:0006303
P13010 (UniProtKB)
IMP
GO:0006303
P13010 (UniProtKB)
TAS
GO:0006310
P13010 (UniProtKB)
IEA
GO:0006351
P13010 (UniProtKB)
IEA
GO:0008022
P13010 (UniProtKB)
IPI
GO:0008283
P13010 (UniProtKB)
IEA
GO:0016020
P13010 (UniProtKB)
IDA
GO:0031625
P13010 (UniProtKB)
IPI
GO:0032481
P13010 (UniProtKB)
TAS
GO:0032508
P13010 (UniProtKB)
IEA
GO:0042162
P13010 (UniProtKB)
IDA
GO:0042162
P13010 (UniProtKB)
TAS
GO:0043564
P13010 (UniProtKB)
IDA
GO:0043564
P13010 (UniProtKB)
IDA
GO:0044212
P13010 (UniProtKB)
IDA
GO:0044822
P13010 (UniProtKB)
IDA
GO:0044822
P13010 (UniProtKB)
IDA
GO:0044877
P13010 (UniProtKB)
IPI
GO:0045892
P13010 (UniProtKB)
IMP
GO:0048660
P13010 (UniProtKB)
IMP
GO:0050769
P13010 (UniProtKB)
IEA
GO:0060218
P13010 (UniProtKB)
IEA
GO:0070419
P13010 (UniProtKB)
IDA
GO:0070419
P13010 (UniProtKB)
IDA
GO:0071480
P13010 (UniProtKB)
IBA
GO:0071481
P13010 (UniProtKB)
IBA
GO:0075713
P13010 (UniProtKB)
TAS
GO:1904430
P13010 (UniProtKB)
IMP
GO:0003691
P13010 (UniProtKB)
IDA
GO:0051575
P13010 (UniProtKB)
IMP

基因相关microRNA

基因相关microRNA

可能调控 XRCC5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

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
Malignant neoplasm of breast 0.012920927 8 0 BeFree_GAD
Malignant neoplasm of urinary bladder 0.010282454 5 0 BeFree_GAD
Malignant neoplasm of lung 0.008186863 7 0 BeFree_GAD
Multiple Myeloma 0.006448592 5 0 BeFree_GAD_LHGDN
Adenocarcinoma 0.005634266 3 0 BeFree_GAD_LHGDN
Squamous cell carcinoma 0.005634266 3 0 BeFree_GAD_LHGDN
Chronic Obstructive Airway Disease 0.005276948 3 0 BeFree_GAD
Head and Neck Neoplasms 0.004734064 2 0 GAD
melanoma 0.003810118 4 0 BeFree_LHGDN
Neuroectodermal Tumors 0.002995792 1 0 BeFree_LHGDN

基因相关服务

基因相关服务

联系方式

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