STAT1 (signal transducer and activator of transcription 1)

基因基本信息

基因基本信息

symbol:
STAT1
locus group:
protein-coding gene
location:
2q32.2
gene_family:
SH2 domain containing
alias symbol:
STAT91|ISGF-3
alias name:
transcription factor ISGF-3 compon…
entrez id:
6772
ensembl gene id:
ENSG00000115415
ucsc gene id:
uc002usj.3
refseq accession:
NM_007315
hgnc_id:
HGNC:11362
approved reserved:
1995-11-08

基因染色体位置

基因染色体位置

2q32.2
基因染色体位置图

基因简述

基因简述

STAT1（信号转导和转录激活因子1，Signal Transducer and Activator of Transcription 1）是一种重要的转录因子，属于STAT蛋白家族。该家族共有7个成员（STAT1-4、STAT5A、STAT5B和STAT6），它们共同的特点是能够被细胞因子或生长因子激活，通过JAK（Janus激酶）介导的磷酸化形成二聚体并转入细胞核，调控靶基因的转录。STAT1主要参与干扰素（IFN）信号通路，当IFN-α/β或IFN-γ与受体结合后，STAT1被磷酸化并与STAT2或另一个STAT1分子形成复合物（分别形成ISGF3或STAT1同源二聚体），进而激活抗病毒、免疫调节和细胞生长抑制相关基因的表达。STAT1的功能位点包括SH2结构域（负责蛋白相互作用）和DNA结合域（识别特定序列如GAS或ISRE）。STAT1突变可能导致功能丧失或增强，例如功能丧失性突变与严重的免疫缺陷相关（如对病毒和分枝杆菌易感），而功能获得性突变可能引发慢性炎症或自身免疫疾病（如STAT1增益功能突变综合征）。STAT1过表达可能增强干扰素反应，导致过度炎症或自身免疫，而表达降低则可能削弱抗病毒和抗肿瘤免疫，增加感染或癌症风险。STAT1与多种疾病相关，包括感染性疾病、自身免疫病（如系统性红斑狼疮）和癌症（某些情况下STAT1抑制肿瘤，而在另一些情况下促进肿瘤进展）。STAT家族成员的共性是依赖酪氨酸磷酸化激活、形成二聚体并调控细胞增殖、分化和免疫反应相关基因。

The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein can be activated by various ligands including interferon-alpha, interferon-gamma, EGF, PDGF and IL6. This protein mediates the expression of a variety of genes, which is thought to be important for cell viability in response to different cell stimuli and pathogens. Two alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

由该基因编码的蛋白质是STAT蛋白家族的一个成员。响应于细胞因子和生长因子，STAT家族成员是由受体相关的激酶磷酸化，然后形成同源该转位到细胞核，其中它们作为转录激活剂或异二聚体。这种蛋白质可通过多种配体，包括干扰素-α，干扰素-γ，EGF，PDGF和IL6被激活。该蛋白介导的各种基因，这被认为是对细胞活力重要响应于不同的细胞刺激和病原体的表达。两个编码不同同种型的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STAT1基因的介绍     Wikipedia数据库中对STAT1基因的介绍

基因序列

基因序列

STAT1基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

STAT1基因的碱基突变：           仅显示部分snp
rs11305       rs908598       rs952798       rs1033248       rs1400657       rs1467198       rs1467199       rs1547550       rs1803838       rs1914408       rs2030171       rs2066793       rs2066794       rs2066795       rs2066796       rs2066797       rs2066798      

基因表达

基因表达

STAT1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
TAACCTCGACAGTCTTGGC
59
TACCACTGAGACATCCTGC
59
AGCCAATGGAACTTGATGG
58
CCCAAGACAGTGACTTCAG
58
CCCAGAGATTTAATCAGGCTC
58
CTTTACTGTCAAGCTCTTTCTG
57
GAAGCTTCTTGGTCCTAACG
59
AATCCAAAGCCAGAAGGGA
59
TTCAGACCACAGACAACCT
59
ACTGTGTTCATCATACTGTCG
58
TTTCCCTTCTGGCTTTGGA
59
CATGATGCACCCATCATTCC
60
AGCCAATGGAACTTGATGG
58
CCAAGACAGTGACTTCAGAC
58
TCAGACCACAGACAACCTG
59
ACTGTGTTCATCATACTGTCGA
60
GTGCAAGGAAAGTTTCATTTGC
60
GTCAAGCTGCTGAAGTTCG
60
AGATTTAATCAGGCTCAGTCG
58
TCTGACTTTACTGTCAAGCTC
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）
BRCA1
STAT1
Activation
17374731
CIITA
STAT1
Unknown
12052885
CREB5
STAT1
Repression
21132541
EGF
STAT1
Unknown
11939722
GTF3A
STAT1
Unknown
12364590
MCM5
STAT1
Unknown
11248027
NR3C1
STAT1
Repression
17016446
PIAS1
STAT1
Unknown
17940994; 19136629
RELA
STAT1
Unknown
25040843
REST
STAT1
Repression
23598529

基因本体信息

STAT1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

STAT1基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0003700
D2KFR9 (UniProtKB)
IEA
GO:0004871
D2KFR9 (UniProtKB)
IEA
GO:0005634
D2KFR9 (UniProtKB)
IEA
GO:0006355
D2KFR9 (UniProtKB)
IEA
GO:0007165
D2KFR9 (UniProtKB)
IEA
GO:0003700
E7ENM1 (UniProtKB)
IEA
GO:0004871
E7ENM1 (UniProtKB)
IEA
GO:0005634
E7ENM1 (UniProtKB)
IEA
GO:0006355
E7ENM1 (UniProtKB)
IEA
GO:0007165
E7ENM1 (UniProtKB)
IEA
GO:0003700
E7EPD2 (UniProtKB)
IEA
GO:0004871
E7EPD2 (UniProtKB)
IEA
GO:0005634
E7EPD2 (UniProtKB)
IEA
GO:0006355
E7EPD2 (UniProtKB)
IEA
GO:0007165
E7EPD2 (UniProtKB)
IEA
GO:0003700
E9PH66 (UniProtKB)
IEA
GO:0004871
E9PH66 (UniProtKB)
IEA
GO:0005634
E9PH66 (UniProtKB)
IEA
GO:0006355
E9PH66 (UniProtKB)
IEA
GO:0007165
E9PH66 (UniProtKB)
IEA
GO:0003700
H7BZ88 (UniProtKB)
IEA
GO:0006355
H7BZ88 (UniProtKB)
IEA
GO:0003700
H7BZB5 (UniProtKB)
IEA
GO:0004871
H7BZB5 (UniProtKB)
IEA
GO:0005634
H7BZB5 (UniProtKB)
IEA
GO:0006355
H7BZB5 (UniProtKB)
IEA
GO:0007165
H7BZB5 (UniProtKB)
IEA
GO:0003677
J3KPM9 (UniProtKB)
IEA
GO:0003700
J3KPM9 (UniProtKB)
IEA
GO:0004871
J3KPM9 (UniProtKB)
IEA
GO:0005654
J3KPM9 (UniProtKB)
IDA
GO:0005730
J3KPM9 (UniProtKB)
IDA
GO:0005737
J3KPM9 (UniProtKB)
IDA
GO:0006351
J3KPM9 (UniProtKB)
IEA
GO:0006355
J3KPM9 (UniProtKB)
IEA
GO:0007165
J3KPM9 (UniProtKB)
IEA
GO:0000122
P42224 (UniProtKB)
ISS
GO:0000790
P42224 (UniProtKB)
IDA
GO:0000978
P42224 (UniProtKB)
IDA
GO:0000979
P42224 (UniProtKB)
IDA
GO:0000983
P42224 (UniProtKB)
IDA
GO:0001937
P42224 (UniProtKB)
IMP
GO:0002053
P42224 (UniProtKB)
ISS
GO:0003340
P42224 (UniProtKB)
ISS
GO:0003690
P42224 (UniProtKB)
IDA
GO:0003700
P42224 (UniProtKB)
IDA
GO:0003700
P42224 (UniProtKB)
IDA
GO:0004871
P42224 (UniProtKB)
IEA
GO:0005164
P42224 (UniProtKB)
IPI
GO:0005164
P42224 (UniProtKB)
IPI
GO:0005515
P42224 (UniProtKB)
IPI
GO:0005515
P42224 (UniProtKB)
IPI
GO:0005515
P42224 (UniProtKB)
IPI
GO:0005515
P42224 (UniProtKB)
IPI
GO:0005515
P42224 (UniProtKB)
IPI
GO:0005515
P42224 (UniProtKB)
IPI
GO:0005515
P42224 (UniProtKB)
IPI
GO:0005515
P42224 (UniProtKB)
IPI
GO:0005515
P42224 (UniProtKB)
IPI
GO:0005515
P42224 (UniProtKB)
IPI
GO:0005515
P42224 (UniProtKB)
IPI
GO:0005515
P42224 (UniProtKB)
IPI
GO:0005515
P42224 (UniProtKB)
IPI
GO:0005515
P42224 (UniProtKB)
IPI
GO:0005515
P42224 (UniProtKB)
IPI
GO:0005515
P42224 (UniProtKB)
IPI
GO:0005515
P42224 (UniProtKB)
IPI
GO:0005515
P42224 (UniProtKB)
IPI
GO:0005515
P42224 (UniProtKB)
IPI
GO:0005515
P42224 (UniProtKB)
IPI
GO:0005515
P42224 (UniProtKB)
IPI
GO:0005515
P42224 (UniProtKB)
IPI
GO:0005515
P42224 (UniProtKB)
IPI
GO:0005515
P42224 (UniProtKB)
IPI
GO:0005515
P42224 (UniProtKB)
IPI
GO:0005515
P42224 (UniProtKB)
IPI
GO:0005515
P42224 (UniProtKB)
IPI
GO:0005515
P42224 (UniProtKB)
IPI
GO:0005515
P42224 (UniProtKB)
IPI
GO:0005515
P42224 (UniProtKB)
IPI
GO:0005515
P42224 (UniProtKB)
IPI
GO:0005515
P42224 (UniProtKB)
IPI
GO:0005515
P42224 (UniProtKB)
IPI
GO:0005515
P42224 (UniProtKB)
IPI
GO:0005515
P42224 (UniProtKB)
IPI
GO:0005515
P42224 (UniProtKB)
IPI
GO:0005515
P42224 (UniProtKB)
IPI
GO:0005515
P42224 (UniProtKB)
IPI
GO:0005634
P42224 (UniProtKB)
IDA
GO:0005634
P42224 (UniProtKB)
IDA
GO:0005634
P42224 (UniProtKB)
IDA
GO:0005634
P42224 (UniProtKB)
IDA
GO:0005634
P42224 (UniProtKB)
IDA
GO:0005654
P42224 (UniProtKB)
IDA
GO:0005654
P42224 (UniProtKB)
TAS
GO:0005654
P42224 (UniProtKB)
TAS
GO:0005654
P42224 (UniProtKB)
TAS
GO:0005654
P42224 (UniProtKB)
TAS
GO:0005654
P42224 (UniProtKB)
TAS
GO:0005654
P42224 (UniProtKB)
TAS
GO:0005654
P42224 (UniProtKB)
TAS
GO:0005654
P42224 (UniProtKB)
TAS
GO:0005654
P42224 (UniProtKB)
TAS
GO:0005730
P42224 (UniProtKB)
IDA
GO:0005737
P42224 (UniProtKB)
IDA
GO:0005737
P42224 (UniProtKB)
IDA
GO:0005737
P42224 (UniProtKB)
IDA
GO:0005737
P42224 (UniProtKB)
IDA
GO:0005737
P42224 (UniProtKB)
IDA
GO:0005829
P42224 (UniProtKB)
TAS
GO:0005829
P42224 (UniProtKB)
TAS
GO:0005829
P42224 (UniProtKB)
TAS
GO:0005829
P42224 (UniProtKB)
TAS
GO:0005829
P42224 (UniProtKB)
TAS
GO:0005829
P42224 (UniProtKB)
TAS
GO:0005829
P42224 (UniProtKB)
TAS
GO:0005829
P42224 (UniProtKB)
TAS
GO:0005829
P42224 (UniProtKB)
TAS
GO:0005829
P42224 (UniProtKB)
TAS
GO:0005829
P42224 (UniProtKB)
TAS
GO:0005829
P42224 (UniProtKB)
TAS
GO:0005829
P42224 (UniProtKB)
TAS
GO:0005829
P42224 (UniProtKB)
TAS
GO:0005829
P42224 (UniProtKB)
TAS
GO:0005829
P42224 (UniProtKB)
TAS
GO:0005829
P42224 (UniProtKB)
TAS
GO:0005829
P42224 (UniProtKB)
TAS
GO:0005829
P42224 (UniProtKB)
TAS
GO:0005829
P42224 (UniProtKB)
TAS
GO:0005829
P42224 (UniProtKB)
TAS
GO:0005829
P42224 (UniProtKB)
TAS
GO:0005829
P42224 (UniProtKB)
TAS
GO:0005829
P42224 (UniProtKB)
TAS
GO:0005829
P42224 (UniProtKB)
TAS
GO:0005829
P42224 (UniProtKB)
TAS
GO:0006351
P42224 (UniProtKB)
IEA
GO:0006915
P42224 (UniProtKB)
ISS
GO:0007259
P42224 (UniProtKB)
IDA
GO:0008015
P42224 (UniProtKB)
ISS
GO:0016032
P42224 (UniProtKB)
IEA
GO:0016525
P42224 (UniProtKB)
IMP
GO:0019899
P42224 (UniProtKB)
IPI
GO:0030424
P42224 (UniProtKB)
ISS
GO:0030425
P42224 (UniProtKB)
ISS
GO:0033209
P42224 (UniProtKB)
IDA
GO:0034097
P42224 (UniProtKB)
ISS
GO:0035456
P42224 (UniProtKB)
IMP
GO:0035458
P42224 (UniProtKB)
IMP
GO:0042802
P42224 (UniProtKB)
IPI
GO:0042802
P42224 (UniProtKB)
IPI
GO:0042803
P42224 (UniProtKB)
IDA
GO:0042981
P42224 (UniProtKB)
TAS
GO:0043124
P42224 (UniProtKB)
IMP
GO:0043434
P42224 (UniProtKB)
ISS
GO:0045893
P42224 (UniProtKB)
IDA
GO:0045944
P42224 (UniProtKB)
IDA
GO:0045944
P42224 (UniProtKB)
IMP
GO:0046725
P42224 (UniProtKB)
IMP
GO:0048471
P42224 (UniProtKB)
IDA
GO:0048661
P42224 (UniProtKB)
ISS
GO:0051591
P42224 (UniProtKB)
ISS
GO:0051607
P42224 (UniProtKB)
IEA
GO:0060333
P42224 (UniProtKB)
ISS
GO:0060333
P42224 (UniProtKB)
IDA
GO:0060333
P42224 (UniProtKB)
TAS
GO:0060334
P42224 (UniProtKB)
TAS
GO:0060337
P42224 (UniProtKB)
ISS
GO:0060337
P42224 (UniProtKB)
TAS
GO:0060338
P42224 (UniProtKB)
TAS
GO:0061326
P42224 (UniProtKB)
IMP
GO:0071407
P42224 (UniProtKB)
IEA
GO:0072136
P42224 (UniProtKB)
ISS
GO:0072162
P42224 (UniProtKB)
ISS
GO:0072308
P42224 (UniProtKB)
ISS
GO:0003700
P42224 (UniProtKB)
IDA
GO:0006357
P42224 (UniProtKB)
IDA
GO:0043542
P42224 (UniProtKB)
IMP

基因相关microRNA

基因相关microRNA

可能调控 STAT1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
IMMUNODEFICIENCY 31B 0.36 2 4 CLINVAR_ORPHANET_UNIPROT
Candidiasis, Chronic Mucocutaneous 0.243800186 14 3 BeFree_CTD_human_ORPHANET
CANDIDIASIS, FAMILIAL, 7 0.24 2 15 CLINVAR_UNIPROT
IMMUNODEFICIENCY 31A 0.24 3 0 ORPHANET_UNIPROT
Arthritis, Experimental 0.2 2 0 CTD_human_RGD
Liver carcinoma 0.125624334 13 0 BeFree_CTD_human_GAD
Mycobacterium Infections 0.123257302 13 0 BeFree_CTD_human
Liver Cirrhosis 0.122638474 3 0 BeFree_CTD_human_GAD
Rheumatoid Arthritis 0.122171535 9 0 BeFree_CTD_human
hearing impairment 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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