THAP1 (THAP domain containing 1)

基因基本信息

基因基本信息

symbol:
THAP1
locus group:
protein-coding gene
location:
8p11.21
gene_family:
THAP domain containing
alias symbol:
FLJ10477|4833431A01Rik
alias name:
None
entrez id:
55145
ensembl gene id:
ENSG00000131931
ucsc gene id:
uc003xpk.4
refseq accession:
NM_018105
hgnc_id:
HGNC:20856
approved reserved:
2003-07-21

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

THAP1（THAP domain-containing protein 1）是一种编码含有THAP结构域的锌指蛋白的基因，主要在中枢神经系统和睾丸中表达。THAP1蛋白是一种DNA结合蛋白，能够通过其N端的THAP结构域特异性识别并结合DNA，参与调控基因转录、细胞周期和凋亡等过程。THAP1的主要作用位点是其靶基因的启动子区域，通过与其他蛋白质（如HCF-1和pRB）相互作用调控下游基因的表达。THAP1基因突变会导致其功能异常，与肌张力障碍（DYT6型）密切相关，突变可能影响蛋白质的DNA结合能力或蛋白稳定性，进而干扰神经元的正常功能，引发运动障碍。THAP1属于THAP基因家族，该家族成员均含有保守的THAP结构域，具有DNA结合和基因调控功能。THAP1过表达可能干扰细胞周期调控，导致细胞增殖异常，而降低表达则可能影响神经元发育和功能，增加肌张力障碍的风险。此外，THAP1还参与血管生成和肿瘤发生，其异常表达可能与某些癌症的发展相关。THAP家族蛋白在进化上高度保守，通过调控染色质结构和基因表达参与多种生物学过程。

The protein encoded by this gene contains a THAP domain, a conserved DNA-binding domain. This protein colocalizes with the apoptosis response protein PAWR/PAR-4 in promyelocytic leukemia (PML) nuclear bodies, and functions as a proapoptotic factor that links PAWR to PML nuclear bodies. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

由该基因编码的蛋白质包含一个THAP结构域，保守的DNA结合结构域。这种蛋白质与共定位凋亡响应蛋白PAWR / PAR-4在早幼粒细胞白血病（PML）核机构，并且用作链接PAWR到PML核小体一个促凋亡因子。编码不同同种型的可变剪接转录物变体已观察到。 [由RefSeq的，2008年7月提供]

OMIM数据库中对THAP1基因的介绍     Wikipedia数据库中对THAP1基因的介绍

基因序列

基因序列

THAP1基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

THAP1基因的碱基突变：           仅显示部分snp
rs1298675       rs3211072       rs4299997       rs4737075       rs10107916       rs11557527       rs11995681       rs59523223       rs59531993       rs59923100       rs61747267       rs62515902       rs71521601       rs72644042       rs73634656       rs73634659       rs73634664      

基因表达

基因表达

THAP1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
CAAGCCCGTTTCTTTCCAC
60
ATCAACCTGGGAAACAGGAG
60
AGCTTCAGGTTTCCTCTTACTC
60
CAAATACTGCTATACTTGGTGGG
59
TTCCACAAGTTTCCTCTTACTC
58
ATACTGCTATACTTGGTGGGT
58
CTTTACTCCAGACTGCTTTAAGAG
59
ATCTTCTTTCTTGTCATGTGGC
59
TTCCACAAGTTTCCTCTTACTC
58
TACTGCTATACTTGGTGGGT
58
TTACTCCAGACTGCTTTAAGAG
58
GATCTTCTTTCTTGTCATGTGG
58
CAAGCCCGTTTCTTTCCAC
60
ATCAACCTGGGAAACAGGA
59
AGAAAGCTTCAGGTTTCCTC
58
ACTGCTATACTTGGTGGGT
58
AGCTTCAGGTTTCCTCTTACTC
60
AATACTGCTATACTTGGTGGGT
59
TTCCACAAGTTTCCTCTTACTC
58
ACTGCTATACTTGGTGGGT
58

转录因子

转录因子

      尚未收录相关数据

基因本体信息

THAP1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

THAP1基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0003676
E9PIS9 (UniProtKB)
IEA
GO:0001935
Q9NVV9 (UniProtKB)
IMP
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005515
Q9NVV9 (UniProtKB)
IPI
GO:0005634
Q9NVV9 (UniProtKB)
IDA
GO:0005634
Q9NVV9 (UniProtKB)
IDA
GO:0005730
Q9NVV9 (UniProtKB)
IDA
GO:0006351
Q9NVV9 (UniProtKB)
IMP
GO:0006355
Q9NVV9 (UniProtKB)
IMP
GO:0007049
Q9NVV9 (UniProtKB)
IEA
GO:0007346
Q9NVV9 (UniProtKB)
IMP
GO:0008270
Q9NVV9 (UniProtKB)
IDA
GO:0008270
Q9NVV9 (UniProtKB)
IDA
GO:0016605
Q9NVV9 (UniProtKB)
IEA
GO:0042802
Q9NVV9 (UniProtKB)
IPI
GO:0042802
Q9NVV9 (UniProtKB)
IPI
GO:0042802
Q9NVV9 (UniProtKB)
IPI
GO:0043231
Q9NVV9 (UniProtKB)
IDA
GO:0043565
Q9NVV9 (UniProtKB)
IDA
GO:0043565
Q9NVV9 (UniProtKB)
IDA
GO:0043565
Q9NVV9 (UniProtKB)
IDA
GO:0043565
Q9NVV9 (UniProtKB)
IMP
GO:0043565
Q9NVV9 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 THAP1基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

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
Dystonia 6, torsion (disorder) 0.480542884 16 5 BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT
Dystonia 0.137415887 39 0 BeFree_CTD_human_GAD
Dystonia Disorders 0.134777413 38 0 BeFree_CTD_human_GAD
Dystonia, Primary 0.005700279 21 0 BeFree
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT 0.002714419 10 0 BeFree
Dystonia Musculorum Deformans 0.002442977 9 0 BeFree
Generalized dystonia 0.002171535 8 0 BeFree
Cervical Dystonia 0.001357209 5 0 BeFree
Pili torti-deafness syndrome 0.001357209 5 0 BeFree
Familial Dystonia 0.000542884 2 0 BeFree

基因相关服务

基因相关服务

联系方式

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