POT1 (protection of telomeres 1)

基因基本信息

基因基本信息

symbol:
POT1
locus group:
protein-coding gene
location:
7q31.33
gene_family:
alias symbol:
hPot1|DKFZp586D211
alias name:
None
entrez id:
25913
ensembl gene id:
ENSG00000128513
ucsc gene id:
uc003vlm.4
refseq accession:
NM_001042594
hgnc_id:
HGNC:17284
approved reserved:
2004-08-20

基因染色体位置

基因染色体位置

7q31.33
基因染色体位置图

基因简述

基因简述

POT1（Protection of Telomeres 1）是一种重要的端粒结合蛋白，属于Shelterin复合体（端粒保护复合体）基因家族成员，该家族还包括TRF1、TRF2、RAP1、TIN2和TPP1。Shelterin家族的主要功能是保护染色体末端的端粒结构，防止其被识别为DNA损伤位点，从而避免染色体末端异常融合或降解。POT1直接结合端粒单链DNA（ssDNA），通过抑制端粒的DNA损伤反应（DDR）信号通路来维持端粒稳定性，并参与调控端粒长度的平衡。POT1的生物学功能包括：1）阻止ATR（一种DNA损伤感应激酶）对端粒的识别，避免不必要的DNA修复反应；2）与TPP1形成复合物，协助端粒酶（telomerase）定位到端粒，促进端粒延长；3）通过抑制解旋酶（helicase）活性防止端粒过度解旋。POT1的主要作用位点是端粒的3'单链悬垂（G-rich overhang）。若POT1发生功能丧失性突变，会导致端粒功能障碍，表现为端粒缩短、染色体末端融合或基因组不稳定性，进而引发早衰、骨髓衰竭或癌症（如家族性黑色素瘤和胶质瘤）。POT1突变与多种疾病相关，例如某些家族性端粒生物学障碍（telomere biology disorders）患者携带POT1突变，表现为肺纤维化、肝硬化和免疫缺陷。当POT1过表达时，可能过度抑制端粒DNA损伤反应，导致端粒异常延长，增加细胞永生化风险；而POT1表达降低则会使端粒失去保护，触发早衰或细胞凋亡。POT1的表达异常还会影响其他端粒相关基因（如TERT、TERC）的功能，并干扰细胞周期调控蛋白（如p53）的活性。Shelterin家族成员的共性是均含有特异性识别端粒DNA的结构域（如POT1的OB-fold结构域），通过协同作用形成保护性"帽状结构"，确保端粒功能的完整性。

This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]

此基因是telombin家族的成员和编码参与端粒维持核蛋白质。具体而言，该蛋白作为结合端粒的TTAGGG重复序列，调节端粒长度和保护染色体从合法重组，灾难性的染色体的不稳定，和异常染色体分离结束一个多蛋白复合物的成员。该基因的转录增加的表达与癌变的胃和它的进展有关。可变剪接转录物变体已有描述。 [由RefSeq的，2008年7月提供]

OMIM数据库中对POT1基因的介绍     Wikipedia数据库中对POT1基因的介绍

基因序列

基因序列

POT1基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

POT1基因的碱基突变：           仅显示部分snp
rs2291207       rs3830243       rs6948181       rs6962685       rs6967988       rs6968124       rs6968573       rs6980448       rs7782410       rs10244797       rs12706628       rs13228358       rs13240512       rs56045619       rs56332031       rs66539836       rs75210900      

基因表达

基因表达

POT1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
ACTACAAGGACACCATTGC
57
ATGCAAGGTTTACCATCTCTG
58
AATTGATGCATATCCGTGGT
57
TTGAGGGCTTCATCTTCTG
57
TTAAGTCACATCCATCGGC
57
AAAGCTTCCAACCTTCAGAG
58
CATGGAGGTACCAGTTACG
57
CCACATCAGAGTTACTTTCTGG
58
CATTTGCTGCAAGAAGTTCC
58
TTGAAAGCGGGAGAATACC
57
AGGTCATATAAGCCCAGAAGAC
59
ATGTGGAACTTCTTGCAGC
58
GTGTTCAGCATCTTTCTTGGT
59
CTGACAACTTGCTGCTTCC
59
ATGTTGATGATGTTAGCATGGG
59
TAGATTGAGGGCTTCCTTGC
59
GCAAAGGAACTGATTATTGCTC
58
GTTTCCACTAAAGAGCAGGC
59
GATGATGTTAGCATGGGTATGG
59
TAGATTGAGGGCTTCCTTGC
59

转录因子

转录因子

      尚未收录相关数据

基因本体信息

POT1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

POT1基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0000723
A8MTK3 (UniProtKB)
IEA
GO:0043047
A8MTK3 (UniProtKB)
IEA
GO:0000723
B7Z7M5 (UniProtKB)
IEA
GO:0000784
B7Z7M5 (UniProtKB)
IEA
GO:0043047
B7Z7M5 (UniProtKB)
IEA
GO:0000723
C9JPG9 (UniProtKB)
IEA
GO:0000784
C9JPG9 (UniProtKB)
IEA
GO:0043047
C9JPG9 (UniProtKB)
IEA
GO:0000723
H7C0Z6 (UniProtKB)
IEA
GO:0043047
H7C0Z6 (UniProtKB)
IEA
GO:0000723
H7C4C7 (UniProtKB)
IEA
GO:0043047
H7C4C7 (UniProtKB)
IEA
GO:0000723
Q5MJ33 (UniProtKB)
IEA
GO:0000784
Q5MJ33 (UniProtKB)
IEA
GO:0043047
Q5MJ33 (UniProtKB)
IEA
GO:0000723
Q5MJ34 (UniProtKB)
IEA
GO:0000784
Q5MJ34 (UniProtKB)
IEA
GO:0043047
Q5MJ34 (UniProtKB)
IEA
GO:0000723
Q5MJ35 (UniProtKB)
IEA
GO:0000784
Q5MJ35 (UniProtKB)
IEA
GO:0043047
Q5MJ35 (UniProtKB)
IEA
GO:0000781
Q9NUX5 (UniProtKB)
IDA
GO:0000783
Q9NUX5 (UniProtKB)
IDA
GO:0000784
Q9NUX5 (UniProtKB)
IDA
GO:0000784
Q9NUX5 (UniProtKB)
IDA
GO:0000784
Q9NUX5 (UniProtKB)
IDA
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005515
Q9NUX5 (UniProtKB)
IPI
GO:0005634
Q9NUX5 (UniProtKB)
IDA
GO:0005654
Q9NUX5 (UniProtKB)
TAS
GO:0005654
Q9NUX5 (UniProtKB)
TAS
GO:0005654
Q9NUX5 (UniProtKB)
TAS
GO:0007004
Q9NUX5 (UniProtKB)
IDA
GO:0007004
Q9NUX5 (UniProtKB)
IGI
GO:0010521
Q9NUX5 (UniProtKB)
IDA
GO:0016233
Q9NUX5 (UniProtKB)
IMP
GO:0016233
Q9NUX5 (UniProtKB)
IGI
GO:0016233
Q9NUX5 (UniProtKB)
TAS
GO:0016233
Q9NUX5 (UniProtKB)
TAS
GO:0017151
Q9NUX5 (UniProtKB)
IPI
GO:0017151
Q9NUX5 (UniProtKB)
IPI
GO:0032202
Q9NUX5 (UniProtKB)
IDA
GO:0032212
Q9NUX5 (UniProtKB)
IMP
GO:0032212
Q9NUX5 (UniProtKB)
IMP
GO:0032212
Q9NUX5 (UniProtKB)
IMP
GO:0032508
Q9NUX5 (UniProtKB)
IDA
GO:0042162
Q9NUX5 (UniProtKB)
IDA
GO:0043047
Q9NUX5 (UniProtKB)
IMP
GO:0043047
Q9NUX5 (UniProtKB)
IDA
GO:0043047
Q9NUX5 (UniProtKB)
IDA
GO:0051096
Q9NUX5 (UniProtKB)
IDA
GO:0051973
Q9NUX5 (UniProtKB)
IMP
GO:0051973
Q9NUX5 (UniProtKB)
IDA
GO:0051973
Q9NUX5 (UniProtKB)
IDA
GO:0051974
Q9NUX5 (UniProtKB)
IDA
GO:0060383
Q9NUX5 (UniProtKB)
IDA
GO:0070187
Q9NUX5 (UniProtKB)
IDA
GO:0070187
Q9NUX5 (UniProtKB)
IMP
GO:0070187
Q9NUX5 (UniProtKB)
IDA
GO:0070200
Q9NUX5 (UniProtKB)
IMP
GO:0098505
Q9NUX5 (UniProtKB)
IDA
GO:0098505
Q9NUX5 (UniProtKB)
IDA
GO:0000723
V9GY10 (UniProtKB)
IEA
GO:0043047
V9GY10 (UniProtKB)
IEA
GO:0000723
V9GYE6 (UniProtKB)
IEA
GO:0043047
V9GYE6 (UniProtKB)
IEA
GO:0000723
V9GZ00 (UniProtKB)
IEA
GO:0000784
V9GZ00 (UniProtKB)
IEA
GO:0043047
V9GZ00 (UniProtKB)
IEA
GO:0000723
V9GZ21 (UniProtKB)
IEA
GO:0043047
V9GZ21 (UniProtKB)
IEA

基因相关microRNA

基因相关microRNA

可能调控 POT1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 0.240542884 3 1 BeFree_GWASCAT_ORPHANET
melanoma 0.121085767 4 1 BeFree_CTD_human
oligodendroglioma 0.120271442 1 0 BeFree_ORPHANET
Anaplastic Oligodendroglioma 0.120271442 1 0 BeFree_ORPHANET
Lymphoid leukemia 0.12 2 0 CTD_human
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10 0.12 2 0 UNIPROT
Congenital chromosomal disease 0.12 1 0 CTD_human
Skin Neoplasms 0.12 1 0 CTD_human
Chromosome Aberrations 0.12 1 0 CTD_human
Malignant neoplasm of breast 0.008458305 7 2 BeFree_GAD

基因相关服务

基因相关服务

联系方式

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