TH (tyrosine hydroxylase)

基因基本信息

基因基本信息

symbol:
TH
locus group:
protein-coding gene
location:
11p15.5
gene_family:
alias symbol:
DYT5b
alias name:
tyrosine 3-monooxygenase
entrez id:
7054
ensembl gene id:
ENSG00000180176
ucsc gene id:
uc001lvr.4
refseq accession:
NM_000360
hgnc_id:
HGNC:11782
approved reserved:
1986-01-01

基因染色体位置

基因染色体位置

11p15.5
基因染色体位置图

基因简述

基因简述

TH基因（酪氨酸羟化酶，tyrosine hydroxylase）是儿茶酚胺类神经递质（如多巴胺、去甲肾上腺素、肾上腺素）合成的限速酶，负责将酪氨酸转化为L-多巴（L-DOPA）。该基因主要在神经系统和肾上腺髓质中表达，其活性直接影响多巴胺能神经元的功能。TH基因突变可导致先天性酪氨酸羟化酶缺乏症，表现为运动障碍（如帕金森样症状）、自主神经功能紊乱和发育迟缓。该基因属于芳香族氨基酸羟化酶家族（AAAH家族），成员均依赖四氢生物蝶呤（BH4）作为辅因子，参与神经递质或激素合成。TH过表达可能引发多巴胺能神经元过度兴奋，与精神分裂症、躁狂症相关；而表达降低则导致帕金森病、抑郁症等疾病。TH活性受磷酸化调控，其Ser19、Ser31和Ser40位点的磷酸化可增强酶活性。某些突变（如R233H）会导致酶稳定性下降，引发婴儿期起病的进行性运动障碍。TH基因多态性（如Val81Met）与个体对精神刺激药物的敏感性差异有关。该基因还参与应激反应，慢性压力可能通过表观遗传修饰（如DNA甲基化）抑制TH表达。在基因家族中，AAAH成员（包括TH、苯丙氨酸羟化酶PAH、色氨酸羟化酶TPH）均含有催化结构域和调控结构域，但组织分布和底物特异性不同。TH表达异常可能影响下游基因如单胺氧化酶（MAO）和儿茶酚-O-甲基转移酶（COMT）的代谢平衡，导致神经递质稳态破坏。

The protein encoded by this gene is involved in the conversion of tyrosine to dopamine. It is the rate-limiting enzyme in the synthesis of catecholamines, hence plays a key role in the physiology of adrenergic neurons. Mutations in this gene have been associated with autosomal recessive Segawa syndrome. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]

由该基因编码的蛋白质是参与酪氨酸的多巴胺的转化。它是在儿茶酚胺的合成的限速酶，因此，起着肾上腺素神经元的生理学关键作用。在这种基因突变与常染色体隐性濑川综合征。编码不同亚型选择性剪接转录变异体已经注意到了这个基因。 [由RefSeq的，2008年7月提供]

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

基因序列

基因序列

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

基因突变

基因突变

TH基因的碱基突变：           仅显示部分snp
rs1800032       rs7119275       rs10734659       rs10743149       rs10770140       rs10770141       rs10770142       rs10840489       rs10840490       rs10840491       rs11042962       rs11564711       rs71029110       rs74555599       rs75915013       rs76351668       rs77140743      

基因表达

基因表达

TH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
CCATCCTTCATCCTCCCTG
59
CTCAATTTCCTCATCCGAGG
58
GAAGCTGATTGCTGAGATCG
59
CTCAGGTGGCAATCTCCTC
60
AGATCGCCTTCCAGTACAG
59
GTAGACCTCCTTCCAGGTG
59
TGCTAAACCTGCTCTTCTCC
60
CTTCAAACGTCTCAAACACCT
59
GAAGCTGATTGCTGAGATCG
59
CAATGTCCTGCGAGAACTG
59
GGAAGGAGGTCTACACCAC
59
ATATTGTCTTCCCGGTAGCC
59
ACCGGGAAGACAATATCCC
59
CAATGTCCTGCGAGAACTG
59
AAGCTGATTGCTGAGATCG
58
CTCAGGTGGCAATCTCCTC
60
CCATCCTTCATCCTCCCTG
59
CAATTTCCTCATCCGAGGC
59
AAGCTGATTGCTGAGATCG
58
CAATGTCCTGCGAGAACTG
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）
AR
TH
Activation
16356647
ATF1
TH
Unknown
11108136
CREB1
TH
Unknown
11108136
CREM
TH
Unknown
11108136
EGR1
TH
Unknown
20124442
HOXA4
TH
Unknown
12670698
HOXA5
TH
Unknown
12670698
PITX3
TH
Activation
22223473
REST
TH
Activation
16764822
REST
TH
Repression
16764822

基因本体信息

TH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

TH基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0004511
E7EQI0 (UniProtKB)
IEA
GO:0055114
E7EQI0 (UniProtKB)
IEA
GO:0004511
F8W8M5 (UniProtKB)
IEA
GO:0055114
F8W8M5 (UniProtKB)
IEA
GO:0005506
H0Y670 (UniProtKB)
IEA
GO:0009072
H0Y670 (UniProtKB)
IEA
GO:0016714
H0Y670 (UniProtKB)
IEA
GO:0055114
H0Y670 (UniProtKB)
IEA
GO:0005506
H0Y677 (UniProtKB)
IEA
GO:0009072
H0Y677 (UniProtKB)
IEA
GO:0016714
H0Y677 (UniProtKB)
IEA
GO:0055114
H0Y677 (UniProtKB)
IEA
GO:0001666
P07101 (UniProtKB)
IDA
GO:0001963
P07101 (UniProtKB)
ISS
GO:0001975
P07101 (UniProtKB)
IEA
GO:0003007
P07101 (UniProtKB)
NAS
GO:0004511
P07101 (UniProtKB)
IDA
GO:0004511
P07101 (UniProtKB)
IDA
GO:0004511
P07101 (UniProtKB)
IDA
GO:0004511
P07101 (UniProtKB)
IDA
GO:0004511
P07101 (UniProtKB)
IDA
GO:0004511
P07101 (UniProtKB)
TAS
GO:0005515
P07101 (UniProtKB)
IPI
GO:0005515
P07101 (UniProtKB)
IPI
GO:0005634
P07101 (UniProtKB)
ISS
GO:0005737
P07101 (UniProtKB)
IDA
GO:0005739
P07101 (UniProtKB)
IEA
GO:0005790
P07101 (UniProtKB)
IDA
GO:0005829
P07101 (UniProtKB)
TAS
GO:0006585
P07101 (UniProtKB)
NAS
GO:0006631
P07101 (UniProtKB)
IEA
GO:0006665
P07101 (UniProtKB)
IEA
GO:0007507
P07101 (UniProtKB)
ISS
GO:0007601
P07101 (UniProtKB)
ISS
GO:0007605
P07101 (UniProtKB)
IEA
GO:0007612
P07101 (UniProtKB)
ISS
GO:0007613
P07101 (UniProtKB)
ISS
GO:0007617
P07101 (UniProtKB)
IEA
GO:0007626
P07101 (UniProtKB)
ISS
GO:0008016
P07101 (UniProtKB)
ISS
GO:0008021
P07101 (UniProtKB)
IEA
GO:0008198
P07101 (UniProtKB)
IEA
GO:0008199
P07101 (UniProtKB)
IEA
GO:0009414
P07101 (UniProtKB)
IEA
GO:0009416
P07101 (UniProtKB)
IEA
GO:0009635
P07101 (UniProtKB)
IEA
GO:0009651
P07101 (UniProtKB)
IEA
GO:0009653
P07101 (UniProtKB)
TAS
GO:0009887
P07101 (UniProtKB)
ISS
GO:0009898
P07101 (UniProtKB)
IDA
GO:0010043
P07101 (UniProtKB)
IEA
GO:0010259
P07101 (UniProtKB)
IEA
GO:0014823
P07101 (UniProtKB)
IEA
GO:0015842
P07101 (UniProtKB)
IEA
GO:0016137
P07101 (UniProtKB)
IEA
GO:0016597
P07101 (UniProtKB)
IEA
GO:0018963
P07101 (UniProtKB)
IEA
GO:0019825
P07101 (UniProtKB)
IEA
GO:0019899
P07101 (UniProtKB)
IPI
GO:0019904
P07101 (UniProtKB)
IEA
GO:0021987
P07101 (UniProtKB)
IEA
GO:0030425
P07101 (UniProtKB)
IEA
GO:0031410
P07101 (UniProtKB)
IDA
GO:0031667
P07101 (UniProtKB)
IEA
GO:0032355
P07101 (UniProtKB)
IEA
GO:0032496
P07101 (UniProtKB)
IEA
GO:0033076
P07101 (UniProtKB)
IEA
GO:0033162
P07101 (UniProtKB)
IDA
GO:0034617
P07101 (UniProtKB)
IEA
GO:0035176
P07101 (UniProtKB)
IEA
GO:0035240
P07101 (UniProtKB)
IEA
GO:0035690
P07101 (UniProtKB)
IEA
GO:0035900
P07101 (UniProtKB)
IEA
GO:0035902
P07101 (UniProtKB)
IEA
GO:0042136
P07101 (UniProtKB)
IEA
GO:0042214
P07101 (UniProtKB)
IEA
GO:0042416
P07101 (UniProtKB)
IDA
GO:0042418
P07101 (UniProtKB)
IDA
GO:0042421
P07101 (UniProtKB)
IDA
GO:0042423
P07101 (UniProtKB)
TAS
GO:0042462
P07101 (UniProtKB)
ISS
GO:0042745
P07101 (UniProtKB)
IEA
GO:0042755
P07101 (UniProtKB)
IEA
GO:0043005
P07101 (UniProtKB)
IDA
GO:0043195
P07101 (UniProtKB)
IEA
GO:0043204
P07101 (UniProtKB)
ISS
GO:0043434
P07101 (UniProtKB)
IEA
GO:0043473
P07101 (UniProtKB)
TAS
GO:0045471
P07101 (UniProtKB)
IDA
GO:0045472
P07101 (UniProtKB)
IEA
GO:0046684
P07101 (UniProtKB)
IEA
GO:0048596
P07101 (UniProtKB)
ISS
GO:0051412
P07101 (UniProtKB)
IEA
GO:0051602
P07101 (UniProtKB)
IEA
GO:0052314
P07101 (UniProtKB)
IEA
GO:0055114
P07101 (UniProtKB)
IEA
GO:0071287
P07101 (UniProtKB)
IEA
GO:0071316
P07101 (UniProtKB)
IEA
GO:0071333
P07101 (UniProtKB)
IEA
GO:0071363
P07101 (UniProtKB)
IEA

基因相关microRNA

基因相关microRNA

可能调控 TH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

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, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 0.360814326 10 3 BeFree_CTD_human_ORPHANET_UNIPROT
Neuroblastoma 0.141192329 59 0 BeFree_CTD_human_LHGDN
Dystonia 0.131973237 17 1 BeFree_CTD_human_LHGDN
Parkinsonian Disorders 0.123528744 13 1 BeFree_CTD_human
Pheochromocytoma 0.122714419 11 0 BeFree_CTD_human
Liver carcinoma 0.120271442 2 0 BeFree_CTD_human
Hyperactive behavior 0.12 1 0 CTD_human
Brain Diseases 0.12 1 0 CTD_human
Nerve Degeneration 0.12 1 0 CTD_human
Dyskinesia, Drug-Induced 0.12 1 0 CTD_human

基因相关服务

基因相关服务

联系方式

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