POLB (DNA polymerase beta)

基因基本信息

基因基本信息

symbol:
POLB
locus group:
protein-coding gene
location:
8p11.21
gene_family:
Polymerases, DNA-directed
alias symbol:
None
alias name:
None
entrez id:
5423
ensembl gene id:
ENSG00000070501
ucsc gene id:
uc003xoz.3
refseq accession:
NM_002690
hgnc_id:
HGNC:9174
approved reserved:
2001-06-22

基因染色体位置

基因染色体位置

8p11.21
基因染色体位置图

基因简述

基因简述

POLB基因编码DNA聚合酶β（DNA polymerase beta），是哺乳动物细胞中负责碱基切除修复（BER）的关键酶之一。它属于X家族DNA聚合酶，该家族成员普遍具有较短的合成能力（通常仅合成1-10个核苷酸）但具有较高的保真度，主要参与DNA修复而非复制。POLB通过其两个结构域发挥作用：8kDa的N端结构域具有脱氧核糖磷酸二酯酶（dRP）裂解活性，而31kDa的C端结构域负责DNA合成。在BER途径中，POLB负责填补因损伤碱基切除后产生的单核苷酸缺口，这对维持基因组稳定性至关重要。POLB突变会导致BER功能缺陷，与多种癌症（如结直肠癌、前列腺癌）和神经系统疾病相关。某些突变（如R137Q、K167M）会显著降低酶活性，导致DNA损伤积累和细胞凋亡增加。POLB过表达常见于肿瘤细胞，可能通过错误修复促进基因组不稳定性；而敲除POLB会导致胚胎致死性，证明其在发育中的必要性。该基因还与化疗耐药性相关，某些肿瘤通过上调POLB来抵抗烷化剂类药物。X家族还包括其他成员如POLλ和POLμ，它们都具有类似的"手掌-手指-拇指"结构特征，但POLB是唯一在所有哺乳动物细胞中持续表达的成员。研究表明POLB与XRCC1、PARP1等修复蛋白形成功能复合体，其表达水平受p53等肿瘤抑制因子调控。

The protein encoded by this gene is a DNA polymerase involved in base excision and repair, also called gap-filling DNA synthesis. The encoded protein, acting as a monomer, is normally found in the cytoplasm, but it translocates to the nucleus upon DNA damage. Several transcript variants of this gene exist, but the full-length nature of only one has been described to date. [provided by RefSeq, Sep 2011]

由该基因编码的蛋白质是参与碱基切除和修理，也称为间隙填充DNA合成的DNA聚合酶。所编码的蛋白质，作为一个单体，通常是在细胞质中发现的，但它易位至在DNA损伤细胞核。此基因的多个转录物变体存在，但只有一个的全长性质已经描述到日期。 [由RefSeq的，2011年9月提供]

OMIM数据库中对CCND1基因的介绍     Wikipedia数据库中对CCND1基因的介绍

基因序列

基因序列

CCND1基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

POLB基因的碱基突变：           仅显示部分snp
rs2272615       rs2307155       rs2307156       rs2307157       rs2307158       rs2307159       rs2307160       rs2307161       rs2307162       rs2307163       rs2307164       rs2307165       rs2953983       rs2953993       rs2953994       rs2976238       rs2976239      

基因表达

基因表达

POLB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
GCAGTTTCAGAAGAGGTGC
59
TTGGTTGATTCTGAAGTGAAGC
60
AGAATCAACCAAACAGGGTG
58
CCACAGTAATACTGATCTTTGGG
59
AGTTCATGGAGTTGCAGGA
59
GTTCCCGGTATTTCCACTG
58
AGAATATGAGGGCTCATGCC
60
CCTGAAGGACAGTGACTCC
59
TCCTGACTCGAGTTAGTGG
58
AGCTGTGAGCCTTCTAGTG
59
TCCACAAGTACAATGCTTACAG
59
TACTCCAGGCAATTTCTTAGCT
60
GACATGCTCACAGAACTCG
59
CTACTCCAGGCTGTAAGCA
59
CCTGGTTCTGAACACTCTG
58
AAATTAGCTGGGTGTGGTG
58
ATCATCAGCGAATTGGGCT
60
CAGCAGAATCTCTTCTGAAACTG
60
ACTAGAAGGCTCACAGCTG
59
CCCAATTCGCTGATGATGG
59

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）
ATF2
POLB
Activation
10518804

基因本体信息

POLB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

POLB基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0003677
E5RIJ0 (UniProtKB)
IEA
GO:0003887
E5RIJ0 (UniProtKB)
IEA
GO:0005634
E5RIJ0 (UniProtKB)
IEA
GO:0006281
E5RIJ0 (UniProtKB)
IEA
GO:0071897
E5RIJ0 (UniProtKB)
IEA
GO:0071897
E5RIJ0 (UniProtKB)
IEA
GO:0003677
E5RJ55 (UniProtKB)
IEA
GO:0034061
E5RJ55 (UniProtKB)
IEA
GO:0071897
E5RJ55 (UniProtKB)
IEA
GO:0003677
E7EW18 (UniProtKB)
IEA
GO:0003887
E7EW18 (UniProtKB)
IEA
GO:0006281
E7EW18 (UniProtKB)
IEA
GO:0071897
E7EW18 (UniProtKB)
IEA
GO:0003677
E9PIC6 (UniProtKB)
IEA
GO:0005634
E9PIC6 (UniProtKB)
IEA
GO:0034061
E9PIC6 (UniProtKB)
IEA
GO:0071897
E9PIC6 (UniProtKB)
IEA
GO:0003677
H0YBJ0 (UniProtKB)
IEA
GO:0003887
H0YBJ0 (UniProtKB)
IEA
GO:0005634
H0YBJ0 (UniProtKB)
IEA
GO:0006281
H0YBJ0 (UniProtKB)
IEA
GO:0071897
H0YBJ0 (UniProtKB)
IEA
GO:0071897
H0YBJ0 (UniProtKB)
IEA
GO:0003677
H0YBX1 (UniProtKB)
IEA
GO:0003887
H0YBX1 (UniProtKB)
IEA
GO:0006281
H0YBX1 (UniProtKB)
IEA
GO:0071897
H0YBX1 (UniProtKB)
IEA
GO:0071897
H0YBX1 (UniProtKB)
IEA
GO:0003684
P06746 (UniProtKB)
IEA
GO:0003887
P06746 (UniProtKB)
IDA
GO:0003887
P06746 (UniProtKB)
IDA
GO:0003887
P06746 (UniProtKB)
TAS
GO:0003887
P06746 (UniProtKB)
TAS
GO:0003887
P06746 (UniProtKB)
TAS
GO:0003906
P06746 (UniProtKB)
TAS
GO:0003906
P06746 (UniProtKB)
TAS
GO:0005515
P06746 (UniProtKB)
IPI
GO:0005515
P06746 (UniProtKB)
IPI
GO:0005515
P06746 (UniProtKB)
IPI
GO:0005634
P06746 (UniProtKB)
IDA
GO:0005634
P06746 (UniProtKB)
IDA
GO:0005654
P06746 (UniProtKB)
TAS
GO:0005654
P06746 (UniProtKB)
TAS
GO:0005654
P06746 (UniProtKB)
TAS
GO:0005654
P06746 (UniProtKB)
TAS
GO:0005654
P06746 (UniProtKB)
TAS
GO:0005654
P06746 (UniProtKB)
TAS
GO:0005654
P06746 (UniProtKB)
TAS
GO:0005654
P06746 (UniProtKB)
TAS
GO:0005654
P06746 (UniProtKB)
TAS
GO:0005654
P06746 (UniProtKB)
TAS
GO:0005654
P06746 (UniProtKB)
TAS
GO:0005654
P06746 (UniProtKB)
TAS
GO:0005654
P06746 (UniProtKB)
TAS
GO:0005654
P06746 (UniProtKB)
TAS
GO:0005654
P06746 (UniProtKB)
TAS
GO:0005654
P06746 (UniProtKB)
TAS
GO:0005654
P06746 (UniProtKB)
TAS
GO:0005654
P06746 (UniProtKB)
TAS
GO:0005654
P06746 (UniProtKB)
TAS
GO:0005654
P06746 (UniProtKB)
TAS
GO:0005654
P06746 (UniProtKB)
TAS
GO:0005654
P06746 (UniProtKB)
TAS
GO:0005654
P06746 (UniProtKB)
TAS
GO:0005654
P06746 (UniProtKB)
TAS
GO:0005737
P06746 (UniProtKB)
IDA
GO:0005737
P06746 (UniProtKB)
IDA
GO:0005737
P06746 (UniProtKB)
IDA
GO:0005874
P06746 (UniProtKB)
IDA
GO:0005876
P06746 (UniProtKB)
IDA
GO:0006261
P06746 (UniProtKB)
TAS
GO:0006281
P06746 (UniProtKB)
TAS
GO:0006284
P06746 (UniProtKB)
IDA
GO:0006284
P06746 (UniProtKB)
IMP
GO:0006286
P06746 (UniProtKB)
TAS
GO:0006287
P06746 (UniProtKB)
IEA
GO:0006287
P06746 (UniProtKB)
IEA
GO:0006288
P06746 (UniProtKB)
TAS
GO:0006290
P06746 (UniProtKB)
IEA
GO:0006954
P06746 (UniProtKB)
IEA
GO:0006974
P06746 (UniProtKB)
IMP
GO:0007435
P06746 (UniProtKB)
IEA
GO:0007568
P06746 (UniProtKB)
IEA
GO:0008017
P06746 (UniProtKB)
IDA
GO:0008630
P06746 (UniProtKB)
IEA
GO:0010332
P06746 (UniProtKB)
IEA
GO:0016446
P06746 (UniProtKB)
IEA
GO:0016829
P06746 (UniProtKB)
IDA
GO:0019899
P06746 (UniProtKB)
IPI
GO:0019899
P06746 (UniProtKB)
IPI
GO:0019899
P06746 (UniProtKB)
IPI
GO:0043234
P06746 (UniProtKB)
IDA
GO:0045471
P06746 (UniProtKB)
IEA
GO:0046872
P06746 (UniProtKB)
IEA
GO:0048535
P06746 (UniProtKB)
IEA
GO:0048536
P06746 (UniProtKB)
IEA
GO:0048872
P06746 (UniProtKB)
IEA
GO:0051402
P06746 (UniProtKB)
IEA
GO:0055093
P06746 (UniProtKB)
IEA
GO:0071707
P06746 (UniProtKB)
IEA
GO:0071897
P06746 (UniProtKB)
IEA
GO:0006297
P06746 (UniProtKB)
IMP

基因相关microRNA

基因相关microRNA

可能调控 POLB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
Chronic Lymphocytic Leukemia 0.122367032 1 0 CTD_human_GAD
Peripheral Neuropathy 0.12 1 0 CTD_human
Bladder Neoplasm 0.12 1 0 CTD_human
Lupus Erythematosus, Systemic 0.08 0 0 MGD
Reperfusion Injury 0.08 1 0 RGD
Malignant neoplasm of breast 0.009001189 9 0 BeFree_GAD
Malignant neoplasm of urinary bladder 0.007915422 5 0 BeFree_GAD
Malignant neoplasm of lung 0.007372538 4 0 BeFree_GAD
Colorectal Cancer 0.005819831 6 0 BeFree_GAD
Werner Syndrome 0.003538676 4 0 BeFree_LHGDN

基因相关服务

基因相关服务

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