HTT (huntingtin)

基因基本信息

基因基本信息

symbol:
HTT
locus group:
protein-coding gene
location:
4p16.3
gene_family:
Endogenous ligands
alias symbol:
IT15
alias name:
None
entrez id:
3064
ensembl gene id:
ENSG00000197386
ucsc gene id:
uc062uto.1
refseq accession:
NM_002111
hgnc_id:
HGNC:4851
approved reserved:
1986-01-01

基因染色体位置

基因染色体位置

4p16.3
基因染色体位置图

基因简述

基因简述

HTT基因编码亨廷顿蛋白（Huntingtin），这是一种在神经系统中广泛表达的大分子蛋白，主要功能包括参与囊泡运输、细胞信号传导、转录调控以及抗凋亡作用。HTT蛋白在胚胎发育中至关重要，尤其对神经系统的形成和功能维持有显著影响。其N端含有多个谷氨酰胺重复序列（CAG重复），当CAG重复次数超过36次时会导致亨廷顿病（Huntington's disease, HD），这是一种常染色体显性遗传的神经退行性疾病。突变后的HTT蛋白会形成有毒的聚集体，损害神经元功能，特别是纹状体和大脑皮层神经元，导致运动障碍（如舞蹈症）、认知功能下降和精神症状。HTT基因属于“多聚谷氨酰胺疾病相关基因家族”，该家族成员均含有CAG重复序列，其异常扩增会导致蛋白质错误折叠和神经毒性。HTT过表达可能通过增强突触可塑性对神经保护有一定作用，但突变HTT过表达会加速神经退化；而HTT表达降低（如基因敲除）会导致胚胎致死，表明其对发育不可或缺。此外，HTT与自噬、线粒体功能等通路相关，其突变可能干扰这些过程，加剧细胞损伤。目前针对HTT的研究聚焦于降低突变蛋白表达的疗法（如反义寡核苷酸）。

None

无

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

基因序列

基因序列

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

基因突变

基因突变

HTT基因的碱基突变：           仅显示部分snp
rs386868       rs398982       rs433069       rs473915       rs616617       rs762855       rs2857935       rs9996199       rs10006977       rs10009935       rs13102260       rs13122415       rs13132932       rs28431418       rs28468636       rs28485764       rs28564368      

基因表达

基因表达

HTT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
CAGGACATTGGGAAGTGTG
59
CAAACAGTTGCCATCATTGG
58
TTTGCTTGAGTTGTACAGCC
59
CACTAGAAGGGATCTGACCAC
60
CTGTGACACATGCCATACC
59
TCAGTAACATTGACACCACC
58
CATTTACCACTGTGCCCTC
59
CTGACTTTCTCCTTTCCTGTG
59
AGCCAAACTTGGAATGTGC
59
GAGGTTCTGACAGACATAATCAC
59
TGCTCTTAGGCTTACTCGT
58
AAATACCTCAGGGTGAGCA
58
CAAGTTGAATGATCTGTTTGGG
58
AAATGACTGGGCAGTTTGG
59
TTGTGGAACTTATAGCTGGAG
58
CAACACAAGACTCTGATTTCTG
58
GTGCTCTTAGGCTTACTCGT
60
AATACCTCAGGGTGAGCAG
59
CTGTGACACATGCCATACC
59
CAGTAACATTGACACCACCA
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）
SP1
HTT
Activation
22399227
TFAP2A
HTT
Unknown
11483245

基因本体信息

HTT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

HTT基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0000132
P42858 (UniProtKB)
IMP
GO:0002039
P42858 (UniProtKB)
IPI
GO:0005102
P42858 (UniProtKB)
IEA
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005515
P42858 (UniProtKB)
IPI
GO:0005522
P42858 (UniProtKB)
IPI
GO:0005634
P42858 (UniProtKB)
IDA
GO:0005634
P42858 (UniProtKB)
IDA
GO:0005634
P42858 (UniProtKB)
IDA
GO:0005654
P42858 (UniProtKB)
IDA
GO:0005737
P42858 (UniProtKB)
IDA
GO:0005737
P42858 (UniProtKB)
IDA
GO:0005737
P42858 (UniProtKB)
IDA
GO:0005737
P42858 (UniProtKB)
IDA
GO:0005770
P42858 (UniProtKB)
IDA
GO:0005776
P42858 (UniProtKB)
IDA
GO:0005783
P42858 (UniProtKB)
IDA
GO:0005794
P42858 (UniProtKB)
IDA
GO:0005814
P42858 (UniProtKB)
IDA
GO:0005829
P42858 (UniProtKB)
IDA
GO:0006890
P42858 (UniProtKB)
IMP
GO:0006915
P42858 (UniProtKB)
IEA
GO:0007030
P42858 (UniProtKB)
IMP
GO:0007417
P42858 (UniProtKB)
IEA
GO:0008134
P42858 (UniProtKB)
IBA
GO:0014069
P42858 (UniProtKB)
IEA
GO:0030136
P42858 (UniProtKB)
IEA
GO:0030424
P42858 (UniProtKB)
IDA
GO:0030425
P42858 (UniProtKB)
IDA
GO:0030659
P42858 (UniProtKB)
IDA
GO:0031587
P42858 (UniProtKB)
IDA
GO:0034047
P42858 (UniProtKB)
IMP
GO:0034452
P42858 (UniProtKB)
IPI
GO:0042297
P42858 (UniProtKB)
IMP
GO:0042802
P42858 (UniProtKB)
IPI
GO:0042802
P42858 (UniProtKB)
IPI
GO:0043025
P42858 (UniProtKB)
IEA
GO:0043234
P42858 (UniProtKB)
IDA
GO:0044325
P42858 (UniProtKB)
IDA
GO:0045505
P42858 (UniProtKB)
IDA
GO:0045724
P42858 (UniProtKB)
IMP
GO:0047496
P42858 (UniProtKB)
IMP
GO:0048487
P42858 (UniProtKB)
IDA
GO:0048513
P42858 (UniProtKB)
IBA
GO:0051028
P42858 (UniProtKB)
IEA
GO:0071598
P42858 (UniProtKB)
IEA
GO:2000117
P42858 (UniProtKB)
IEA
GO:2001237
P42858 (UniProtKB)
IMP

基因相关microRNA

基因相关microRNA

可能调控 HTT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
Huntington Disease 0.703824291 284 2 BeFree_CLINVAR_CTD_human_GAD_LHGDN_MGD_ORPHANET_RGD
Movement Disorders 0.120814326 4 0 BeFree_CTD_human
Juvenile Huntington Disease 0.120542884 2 0 BeFree_ORPHANET
Cadmium poisoning 0.12 1 0 CTD_human
Manganese Poisoning 0.12 1 0 CTD_human
Transient Ischemic Attack 0.08 1 0 RGD
Neurodegenerative Disorders 0.03773042 139 0 BeFree
Hodgkin Disease 0.007328931 27 0 BeFree
leukemia 0.002995792 2 0 BeFree_LHGDN
Parkinson Disease 0.002909916 3 0 BeFree_GAD

基因相关服务

基因相关服务

联系方式

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