YWHAE (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon)

基因基本信息

基因基本信息

symbol:
YWHAE
locus group:
protein-coding gene
location:
17p13.3
gene_family:
alias symbol:
FLJ45465
alias name:
14-3-3 epsilon
entrez id:
7531
ensembl gene id:
ENSG00000108953
ucsc gene id:
uc002fsj.4
refseq accession:
NM_006761
hgnc_id:
HGNC:12851
approved reserved:
1993-09-20

基因染色体位置

基因染色体位置

17p13.3
基因染色体位置图

基因简述

基因简述

YWHAE（14-3-3ε）属于14-3-3蛋白家族，这是一个高度保守的调控蛋白家族，成员通过结合磷酸化靶蛋白参与细胞信号转导、凋亡、代谢和细胞周期等关键过程。14-3-3蛋白的共性是通过形成同源或异源二聚体，识别含特定磷酸化序列的客户蛋白（如RSXpSXP或RXXXpSXP，其中pS代表磷酸化丝氨酸），从而改变客户蛋白的定位、稳定性或活性。YWHAE作为该家族成员之一，主要定位于细胞质和细胞核，其表达产物14-3-3ε蛋白通过结合多种信号分子（如BAD、CDC25、TP53等）发挥功能。例如，它通过隔离促凋亡蛋白BAD到细胞质来抑制凋亡，或通过稳定CDC25磷酸酶调控细胞周期。YWHAE突变可能导致其与客户蛋白结合能力丧失，进而破坏相关通路。在癌症中，YWHAE基因易位（如与FOXR1融合）会形成致癌融合蛋白，促进肿瘤发生；而在神经发育障碍如Miller-Dieker综合征中，其缺失与大脑皮层发育异常相关。过表达YWHAE可能增强抗凋亡信号导致肿瘤耐药性，或通过过度稳定细胞周期蛋白驱动增殖；而表达降低则可能诱发凋亡增加或细胞周期阻滞。该基因还与神经退行性疾病（如阿尔茨海默病）相关，因其参与tau蛋白病理调控。14-3-3家族其他成员（如YWHAZ、YWHAG）功能部分冗余，但组织分布和客户蛋白偏好存在差异。

This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the mouse ortholog. It interacts with CDC25 phosphatases, RAF1 and IRS1 proteins, suggesting its role in diverse biochemical activities related to signal transduction, such as cell division and regulation of insulin sensitivity. It has also been implicated in the pathogenesis of small cell lung cancer. Two transcript variants, one protein-coding and the other non-protein-coding, have been found for this gene. [provided by RefSeq, Aug 2008]

该基因产物属于14-3-3家族，通过结合含有磷酸丝氨酸蛋白介导的信号转导的蛋白质。此高度保守的蛋白家族在植物和哺乳动物中发现，而该蛋白质是100％相同的小鼠直向同源物。它与CDC25磷酸酶，RAF1和IRS1蛋白相互作用，这表明其在与信号转导相关的多种生化活性，例如细胞分裂和对胰岛素的敏感性的调节作用。还已牵涉于小细胞肺癌的发病机制。两个转录物变体，一种蛋白质编码和其它非蛋白质编码，已发现这种基因。 [由RefSeq的，2008年8月提供]

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

基因序列

基因序列

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

基因突变

基因突变

YWHAE基因的碱基突变：           仅显示部分snp
rs7266       rs7266       rs9393       rs9393       rs15219       rs15219       rs181444       rs181444       rs191652       rs191652       rs1873827       rs1873827       rs2007736       rs2007736       rs2131431       rs2131431       rs2131432      

基因表达

基因表达

YWHAE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
GGATGATCGAGAGGATCTGG
59
TCTTTATTCTGCTCTTCACCGT
60
GGACTCTACACTTATCATGCAG
59
CCTTTAGGAATCGTCACCC
58
AAAGGAGGACCTTTGAGAGC
60
TACAGACCAGCATTCCGAG
59
CCTGGAGAATAATCAGCAGC
59
TCTGCTCTTCACCATTTGC
59
GGACTCTACACTTATCATGCAG
59
TTATTCTGCTCTTCACCGTC
58
AGCGATACGACGAAATGGT
60
GGAGGTTTCTTTCTTCAACTGTC
60
GAGGATCTGGTGTACCAGG
59
AGGAACTTCGAGATCTCCTG
59
AATGATTCGGGAATATCGGC
58
TTTGCCAACCAGTGTTAGC
59
GGACTCTACACTTATCATGCAG
59
TTATTCTGCTCTTCACCGTC
58
GGAGATCTCGAAGTTCCTG
57
TATCCATCAGAACCCACGG
59

转录因子

转录因子

      尚未收录相关数据

基因本体信息

YWHAE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

YWHAE基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0019904
B4DJF2 (UniProtKB)
IEA
GO:0019904
I3L3T1 (UniProtKB)
IEA
GO:0019904
K7EIT4 (UniProtKB)
IEA
GO:0019904
K7EM20 (UniProtKB)
IEA
GO:0000086
P62258 (UniProtKB)
TAS
GO:0001764
P62258 (UniProtKB)
IEA
GO:0003064
P62258 (UniProtKB)
NAS
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005515
P62258 (UniProtKB)
IPI
GO:0005739
P62258 (UniProtKB)
IEA
GO:0005829
P62258 (UniProtKB)
TAS
GO:0005829
P62258 (UniProtKB)
TAS
GO:0005829
P62258 (UniProtKB)
TAS
GO:0005829
P62258 (UniProtKB)
TAS
GO:0005829
P62258 (UniProtKB)
TAS
GO:0005829
P62258 (UniProtKB)
TAS
GO:0005829
P62258 (UniProtKB)
TAS
GO:0005829
P62258 (UniProtKB)
TAS
GO:0005829
P62258 (UniProtKB)
TAS
GO:0005829
P62258 (UniProtKB)
TAS
GO:0005829
P62258 (UniProtKB)
TAS
GO:0005829
P62258 (UniProtKB)
TAS
GO:0005829
P62258 (UniProtKB)
TAS
GO:0005829
P62258 (UniProtKB)
TAS
GO:0005829
P62258 (UniProtKB)
TAS
GO:0005829
P62258 (UniProtKB)
TAS
GO:0005829
P62258 (UniProtKB)
TAS
GO:0005829
P62258 (UniProtKB)
TAS
GO:0005829
P62258 (UniProtKB)
TAS
GO:0005829
P62258 (UniProtKB)
TAS
GO:0005829
P62258 (UniProtKB)
TAS
GO:0005829
P62258 (UniProtKB)
TAS
GO:0005829
P62258 (UniProtKB)
TAS
GO:0005829
P62258 (UniProtKB)
TAS
GO:0005829
P62258 (UniProtKB)
TAS
GO:0005829
P62258 (UniProtKB)
TAS
GO:0005829
P62258 (UniProtKB)
TAS
GO:0005829
P62258 (UniProtKB)
TAS
GO:0005829
P62258 (UniProtKB)
TAS
GO:0005829
P62258 (UniProtKB)
TAS
GO:0005829
P62258 (UniProtKB)
TAS
GO:0005871
P62258 (UniProtKB)
IEA
GO:0005925
P62258 (UniProtKB)
IDA
GO:0006605
P62258 (UniProtKB)
IEA
GO:0015459
P62258 (UniProtKB)
IDA
GO:0016020
P62258 (UniProtKB)
IDA
GO:0016032
P62258 (UniProtKB)
IEA
GO:0019899
P62258 (UniProtKB)
IPI
GO:0019904
P62258 (UniProtKB)
IEA
GO:0021762
P62258 (UniProtKB)
IEP
GO:0021766
P62258 (UniProtKB)
IEA
GO:0021987
P62258 (UniProtKB)
IEA
GO:0023026
P62258 (UniProtKB)
IDA
GO:0030424
P62258 (UniProtKB)
IEA
GO:0030659
P62258 (UniProtKB)
TAS
GO:0031625
P62258 (UniProtKB)
IPI
GO:0035329
P62258 (UniProtKB)
TAS
GO:0035556
P62258 (UniProtKB)
TAS
GO:0042470
P62258 (UniProtKB)
IEA
GO:0042826
P62258 (UniProtKB)
IPI
GO:0042826
P62258 (UniProtKB)
IPI
GO:0043154
P62258 (UniProtKB)
TAS
GO:0044325
P62258 (UniProtKB)
IPI
GO:0044822
P62258 (UniProtKB)
IDA
GO:0046982
P62258 (UniProtKB)
IPI
GO:0050815
P62258 (UniProtKB)
IPI
GO:0051219
P62258 (UniProtKB)
IPI
GO:0060306
P62258 (UniProtKB)
IDA
GO:0061024
P62258 (UniProtKB)
TAS
GO:0070062
P62258 (UniProtKB)
IDA
GO:0070062
P62258 (UniProtKB)
IDA
GO:0070062
P62258 (UniProtKB)
IDA
GO:0070062
P62258 (UniProtKB)
IDA
GO:0070062
P62258 (UniProtKB)
IDA
GO:0086013
P62258 (UniProtKB)
IC
GO:0086091
P62258 (UniProtKB)
IC
GO:1900034
P62258 (UniProtKB)
TAS
GO:1900740
P62258 (UniProtKB)
TAS
GO:1901016
P62258 (UniProtKB)
IDA
GO:1902309
P62258 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 YWHAE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

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
Miller Dieker syndrome 0.20434307 16 0 BeFree_MGD_ORPHANET
Endometrial Stromal Sarcoma 0.122442977 9 0 BeFree_ORPHANET
Neoplasm Metastasis 0.121085767 5 0 BeFree_CTD_human
CHROMOSOME 17p13.3, CENTROMERIC, DUPLICATION SYNDROME 0.12 0 0 ORPHANET
Classical Lissencephalies and Subcortical Band Heterotopias 0.12 0 0 CTD_human
NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1 0.08 0 0 MGD
Leukemia, Myelocytic, Acute 0.039359071 145 2 BeFree
Preleukemia 0.010586233 39 0 BeFree
MYELODYSPLASTIC SYNDROME 0.009229024 34 0 BeFree
Congenital chromosomal disease 0.008143256 30 0 BeFree

基因相关服务

基因相关服务

联系方式

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