IRS1 (insulin receptor substrate 1)

基因基本信息

基因基本信息

symbol:
IRS1
locus group:
protein-coding gene
location:
2q36.3
gene_family:
Pleckstrin homology domain containing
alias symbol:
HIRS-1
alias name:
None
entrez id:
3667
ensembl gene id:
ENSG00000169047
ucsc gene id:
uc002voh.5
refseq accession:
NM_005544
hgnc_id:
HGNC:6125
approved reserved:
1992-08-24

基因染色体位置

基因染色体位置

2q36.3
基因染色体位置图

基因简述

基因简述

IRS1（胰岛素受体底物1）是一种关键的信号转导蛋白，属于胰岛素受体底物（IRS）家族，该家族还包括IRS2、IRS3和IRS4等成员。IRS家族蛋白的共同特点是它们作为胰岛素和胰岛素样生长因子（IGF-1）受体下游的适配器分子，通过激活PI3K-AKT和MAPK等信号通路调控细胞代谢、生长和存活。IRS1主要在胰岛素敏感组织（如肌肉、脂肪和肝脏）中表达，其核心功能是介导胰岛素信号传导，促进葡萄糖摄取、糖原合成和蛋白质合成，同时抑制糖异生和脂肪分解。IRS1的酪氨酸磷酸化位点（如Y612和Y632）对激活下游信号至关重要，而丝氨酸/苏氨酸磷酸化（如S307）则可能负反馈抑制其活性。IRS1突变或表达异常与多种代谢疾病密切相关，例如2型糖尿病和胰岛素抵抗。某些突变（如G972R）会削弱IRS1与胰岛素受体的结合能力或降低其稳定性，导致信号传导障碍。此外，IRS1多态性（如rs2943641）与心血管疾病和某些癌症风险相关。在过表达情况下，IRS1可能增强胰岛素敏感性，但长期过度激活可能诱发低血糖或促进肿瘤细胞增殖（如乳腺癌和结肠癌）。相反，IRS1表达降低或功能缺失会导致胰岛素抵抗、高血糖和代偿性高胰岛素血症，并可能加速β细胞衰竭。IRS1还与其他基因相互作用，例如其表达受FOXO1调控，而它又能抑制GSK3β活性以调节糖代谢。在脂肪组织中，IRS1缺失会减少脂质储存并增加游离脂肪酸释放，加剧肝脏胰岛素抵抗。值得注意的是，IRS1在衰老过程中表达下降，可能与年龄相关代谢紊乱有关。研究还发现IRS1通过mTOR通路调控自噬，其异常表达可能影响神经退行性疾病进程。IRS家族成员功能既有重叠也有分化，例如IRS2更多参与β细胞存活和中枢胰岛素作用，而IRS1对外周胰岛素敏感性更为关键。

This gene encodes a protein which is phosphorylated by insulin receptor tyrosine kinase. Mutations in this gene are associated with type II diabetes and susceptibility to insulin resistance. [provided by RefSeq, Nov 2009]

该基因编码由胰岛素受体酪氨酸激酶磷酸化的蛋白。在这种基因突变与II型糖尿病和易感性的胰岛素抗性相关。 [由RefSeq的，2009年11月提供]

OMIM数据库中对IRS1基因的介绍     Wikipedia数据库中对IRS1基因的介绍

基因序列

基因序列

IRS1基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

IRS1基因的碱基突变：           仅显示部分snp
rs10203       rs15625       rs919423       rs1025333       rs1078533       rs1366757       rs1529525       rs1560251       rs1560252       rs1801108       rs1801118       rs1801120       rs1801123       rs1801276       rs1801277       rs1801278       rs1820841      

基因表达

基因表达

IRS1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
CAGCATCAGTTTCCAGAAGC
60
GAGGTCATTTAGGTCTTCATTCTG
59
TATGCCAGCATCAGTTTCCA
60
AAGTACTGCGAAATTCTGCTG
59
CTATGCCAGCATCAGTTTCC
59
AGTACTGCGAAATTCTGCTG
59
TATGCCAGCATCAGTTTCC
58
CATTTAGGTCTTCATTCTGCTG
58
CTATGCCAGCATCAGTTTCC
59
TTTAGGTCTTCATTCTGCTGTG
59
TATGCCAGCATCAGTTTCC
58
AAGTACTGCGAAATTCTGCT
58

转录因子

转录因子

      尚未收录相关数据

基因本体信息

IRS1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

IRS1基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0000165
P35568 (UniProtKB)
TAS
GO:0004871
P35568 (UniProtKB)
TAS
GO:0004871
P35568 (UniProtKB)
TAS
GO:0005068
P35568 (UniProtKB)
ISS
GO:0005080
P35568 (UniProtKB)
ISS
GO:0005088
P35568 (UniProtKB)
TAS
GO:0005158
P35568 (UniProtKB)
IPI
GO:0005158
P35568 (UniProtKB)
IPI
GO:0005159
P35568 (UniProtKB)
IPI
GO:0005515
P35568 (UniProtKB)
IPI
GO:0005515
P35568 (UniProtKB)
IPI
GO:0005515
P35568 (UniProtKB)
IPI
GO:0005515
P35568 (UniProtKB)
IPI
GO:0005515
P35568 (UniProtKB)
IPI
GO:0005515
P35568 (UniProtKB)
IPI
GO:0005515
P35568 (UniProtKB)
IPI
GO:0005515
P35568 (UniProtKB)
IPI
GO:0005515
P35568 (UniProtKB)
IPI
GO:0005515
P35568 (UniProtKB)
IPI
GO:0005515
P35568 (UniProtKB)
IPI
GO:0005515
P35568 (UniProtKB)
IPI
GO:0005515
P35568 (UniProtKB)
IPI
GO:0005515
P35568 (UniProtKB)
IPI
GO:0005515
P35568 (UniProtKB)
IPI
GO:0005515
P35568 (UniProtKB)
IPI
GO:0005515
P35568 (UniProtKB)
IPI
GO:0005515
P35568 (UniProtKB)
IPI
GO:0005515
P35568 (UniProtKB)
IPI
GO:0005515
P35568 (UniProtKB)
IPI
GO:0005515
P35568 (UniProtKB)
IPI
GO:0005515
P35568 (UniProtKB)
IPI
GO:0005515
P35568 (UniProtKB)
IPI
GO:0005515
P35568 (UniProtKB)
IPI
GO:0005515
P35568 (UniProtKB)
IPI
GO:0005515
P35568 (UniProtKB)
IPI
GO:0005634
P35568 (UniProtKB)
ISS
GO:0005737
P35568 (UniProtKB)
ISS
GO:0005829
P35568 (UniProtKB)
IBA
GO:0005829
P35568 (UniProtKB)
TAS
GO:0005829
P35568 (UniProtKB)
TAS
GO:0005829
P35568 (UniProtKB)
TAS
GO:0005829
P35568 (UniProtKB)
TAS
GO:0005829
P35568 (UniProtKB)
TAS
GO:0005829
P35568 (UniProtKB)
TAS
GO:0005829
P35568 (UniProtKB)
TAS
GO:0005829
P35568 (UniProtKB)
TAS
GO:0005829
P35568 (UniProtKB)
TAS
GO:0005829
P35568 (UniProtKB)
TAS
GO:0005829
P35568 (UniProtKB)
TAS
GO:0005829
P35568 (UniProtKB)
TAS
GO:0005829
P35568 (UniProtKB)
TAS
GO:0005886
P35568 (UniProtKB)
TAS
GO:0005886
P35568 (UniProtKB)
TAS
GO:0005886
P35568 (UniProtKB)
TAS
GO:0005886
P35568 (UniProtKB)
TAS
GO:0005886
P35568 (UniProtKB)
TAS
GO:0005899
P35568 (UniProtKB)
ISS
GO:0005901
P35568 (UniProtKB)
IDA
GO:0007165
P35568 (UniProtKB)
TAS
GO:0008284
P35568 (UniProtKB)
NAS
GO:0008286
P35568 (UniProtKB)
IDA
GO:0008286
P35568 (UniProtKB)
IMP
GO:0008286
P35568 (UniProtKB)
IPI
GO:0008286
P35568 (UniProtKB)
IPI
GO:0010907
P35568 (UniProtKB)
IMP
GO:0014065
P35568 (UniProtKB)
IDA
GO:0014066
P35568 (UniProtKB)
TAS
GO:0016303
P35568 (UniProtKB)
TAS
GO:0032000
P35568 (UniProtKB)
IMP
GO:0032868
P35568 (UniProtKB)
IDA
GO:0032869
P35568 (UniProtKB)
IMP
GO:0036092
P35568 (UniProtKB)
IEA
GO:0042169
P35568 (UniProtKB)
ISS
GO:0042593
P35568 (UniProtKB)
TAS
GO:0043231
P35568 (UniProtKB)
ISS
GO:0043434
P35568 (UniProtKB)
ISS
GO:0043547
P35568 (UniProtKB)
IEA
GO:0043548
P35568 (UniProtKB)
ISS
GO:0043548
P35568 (UniProtKB)
IPI
GO:0043548
P35568 (UniProtKB)
IPI
GO:0043552
P35568 (UniProtKB)
ISS
GO:0045725
P35568 (UniProtKB)
IMP
GO:0045725
P35568 (UniProtKB)
NAS
GO:0046326
P35568 (UniProtKB)
IMP
GO:0046627
P35568 (UniProtKB)
ISS
GO:0046628
P35568 (UniProtKB)
ISS
GO:0046676
P35568 (UniProtKB)
IDA
GO:0046854
P35568 (UniProtKB)
IEA
GO:0046934
P35568 (UniProtKB)
TAS
GO:0048009
P35568 (UniProtKB)
IPI
GO:0048015
P35568 (UniProtKB)
TAS
GO:2001275
P35568 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 IRS1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
Diabetes Mellitus, Non-Insulin-Dependent 0.627144187 115 12 BeFree_CLINVAR_CTD_human_GAD_MGD_RGD_UNIPROT
Obesity 0.21842571 38 2 BeFree_CTD_human_GAD_RGD
Diabetes Mellitus, Experimental 0.2 3 0 CTD_human_RGD
Insulin Resistance 0.141303288 10 0 CTD_human_GAD
Diabetes Mellitus 0.128610195 24 3 BeFree_CTD_human_GAD
Coronary Artery Disease 0.126634157 9 4 BeFree_CTD_human_GAD
Prostatic Neoplasms 0.1254487 2 0 CTD_human_LHGDN
Liver carcinoma 0.123257302 13 0 BeFree_CTD_human
Hyperinsulinism 0.122171535 8 0 BeFree_CTD_human
INSULIN RESISTANCE, SUSCEPTIBILITY TO 0.12 0 1 CLINVAR

基因相关服务

基因相关服务

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