HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
50 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
IRS1
insulin receptor substrate 1
Chromosome 2 · 2q36.3
NCBI Gene: 3667Ensembl: ENSG00000169047.7HGNC: HGNC:6125UniProt: P35568
659PubMed Papers
21Diseases
1Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Highly Studied
CLINICAL
Early PipelineOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
phosphotyrosine residue bindinginsulin-like growth factor receptor bindingprotein bindingsignaling receptor complex adaptor activityAbnormality of the skeletal systemtype 2 diabetes mellituscancermetabolic syndrome
✦AI Summary

IRS1 is a critical signaling adapter protein that mediates insulin receptor and IGF-1 receptor signaling, playing essential roles in glucose homeostasis and metabolic regulation 123. Upon insulin receptor phosphorylation, IRS1 recruits SH2 domain-containing proteins including the p85 regulatory subunit of PI3K, GRB2, and SHP2, propagating signals through both the PI3K/AKT and Ras/MAPK pathways 45. The PI3K/AKT pathway mediates insulin's metabolic effects on glucose uptake and glycogen synthesis, while MAPK signaling regulates gene expression and cell growth 6. IRS1 also positively regulates Wnt/beta-catenin signaling through DVL2 modulation 7. IRS1 dysfunction is strongly associated with type 2 diabetes pathogenesis. Genetic variants, including the rs1801278 polymorphism, show significant association with T2DM susceptibility 8, and high-risk variants can compromise protein structural stability and signaling capacity 9. In insulin resistance, selective impairment of IRS1 signaling occurs in tissues like kidney and liver, while IRS2 pathways may remain preserved, contributing to hyperglycemia and altered lipid metabolism 10. IRS1 promoter methylation inversely correlates with gene expression and associates with adverse metabolic traits 11. Additionally, IRS1 variants contribute to gestational diabetes mellitus susceptibility through effects on insulin secretion and peripheral signaling 12, and polymorphisms associate with autism spectrum disorder, highlighting IRS1's broader role in IGF pathway-dependent development 13.

Sources cited
1
IRS1 is a critical signaling adapter protein that mediates insulin receptor and IGF-1 receptor signaling, playing essential roles in glucose homeostasis and metabolic regulation , , .
PMID: 7541045
2
IRS1 is a critical signaling adapter protein that mediates insulin receptor and IGF-1 receptor signaling, playing essential roles in glucose homeostasis and metabolic regulation , , .
PMID: 33991522
3
IRS1 is a critical signaling adapter protein that mediates insulin receptor and IGF-1 receptor signaling, playing essential roles in glucose homeostasis and metabolic regulation , , .
PMID: 38625937
4
Upon insulin receptor phosphorylation, IRS1 recruits SH2 domain-containing proteins including the p85 regulatory subunit of PI3K, GRB2, and SHP2, propagating signals through both the PI3K/AKT and Ras/MAPK pathways , .
PMID: 11171109
5
Upon insulin receptor phosphorylation, IRS1 recruits SH2 domain-containing proteins including the p85 regulatory subunit of PI3K, GRB2, and SHP2, propagating signals through both the PI3K/AKT and Ras/MAPK pathways , .
PMID: 8265614
6
The PI3K/AKT pathway mediates insulin's metabolic effects on glucose uptake and glycogen synthesis, while MAPK signaling regulates gene expression and cell growth .
PMID: 34946711
7
IRS1 also positively regulates Wnt/beta-catenin signaling through DVL2 modulation .
PMID: 24616100
8
Genetic variants, including the rs1801278 polymorphism, show significant association with T2DM susceptibility , and high-risk variants can compromise protein structural stability and signaling capacity .
PMID: 24612564
9
Genetic variants, including the rs1801278 polymorphism, show significant association with T2DM susceptibility , and high-risk variants can compromise protein structural stability and signaling capacity .
PMID: 36907599
10
In insulin resistance, selective impairment of IRS1 signaling occurs in tissues like kidney and liver, while IRS2 pathways may remain preserved, contributing to hyperglycemia and altered lipid metabolism .
PMID: 27247938
11
IRS1 promoter methylation inversely correlates with gene expression and associates with adverse metabolic traits .
PMID: 28959056
12
Additionally, IRS1 variants contribute to gestational diabetes mellitus susceptibility through effects on insulin secretion and peripheral signaling , and polymorphisms associate with autism spectrum disorder, highlighting IRS1's broader role in IGF pathway-dependent development .
PMID: 41898821
13
Additionally, IRS1 variants contribute to gestational diabetes mellitus susceptibility through effects on insulin secretion and peripheral signaling , and polymorphisms associate with autism spectrum disorder, highlighting IRS1's broader role in IGF pathway-dependent development .
PMID: 27483248
Disease Associationsⓘ21
Abnormality of the skeletal systemOpen Targets
0.56Moderate
type 2 diabetes mellitusOpen Targets
0.54Moderate
cancerOpen Targets
0.51Moderate
metabolic syndromeOpen Targets
0.36Weak
neurodegenerative diseaseOpen Targets
0.36Weak
HypercholesterolemiaOpen Targets
0.34Weak
sign or symptomOpen Targets
0.32Weak
diabetes mellitusOpen Targets
0.29Weak
hypertensionOpen Targets
0.29Weak
obesityOpen Targets
0.24Weak
coronary artery diseaseOpen Targets
0.23Weak
preeclampsiaOpen Targets
0.23Weak
Abnormal male internal genitalia morphologyOpen Targets
0.23Weak
esophageal ulcerOpen Targets
0.22Weak
osteitis deformansOpen Targets
0.21Weak
angina pectorisOpen Targets
0.20Weak
adolescent idiopathic scoliosisOpen Targets
0.20Weak
MyoclonusOpen Targets
0.20Weak
type 1 diabetes mellitusOpen Targets
0.20Weak
type 2 diabetes nephropathyOpen Targets
0.19Weak
Type 2 diabetes mellitusUniProt
Pathogenic Variants2
NM_005544.3(IRS1):c.1823C>G (p.Thr608Arg)Pathogenic
Type 2 diabetes mellitus
☆☆☆☆2003→ Residue 608
NM_005544.3(IRS1):c.2164GGT[1] (p.Gly723del)Pathogenic
Type 2 diabetes mellitus
☆☆☆☆1996→ Residue 723
View on ClinVar ↗
Drug Targets1
AGANIRSENIND
Insulin receptor substrate 1 mRNA antisense inhibitor
Related Genes
GRB10Protein interaction100%PIK3R3Protein interaction100%PIK3CBProtein interaction100%PIK3CDProtein interaction100%PIK3CGProtein interaction100%PTPN1Protein interaction100%
Tissue Expression6 tissues
Ovary
100%
Liver
60%
Heart
41%
Lung
27%
Brain
10%
Bone Marrow
5%
Gene Interaction Network
Click a node to explore
IRS1GRB10PIK3R3PIK3CBPIK3CDPIK3CGPTPN1
PROTEIN STRUCTURE
Preparing viewer…
PDB7PPM · 1.48 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.67LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.51 [0.38–0.67]
RankingsWhere IRS1 stands among ~20K protein-coding genes
  • #332of 20,598
    Most Researched659 · top 5%
  • #4,190of 5,498
    Most Pathogenic Variants2
  • #4,984of 17,882
    Most Constrained (LOEUF)0.67
Genes detectedIRS1
Sources retrieved50 papers
Response time—
📄 Sources
50▼
1
Carpachromene Ameliorates Insulin Resistance in HepG2 Cells via Modulating IR/IRS1/PI3k/Akt/GSK3/FoxO1 Pathway.
PMID: 34946711
Molecules · 2021
1.00
2
The association between sarcopenia susceptibility and polymorphisms of FTO, ACVR2B, and IRS1 in Tibetans.
PMID: 34302448
Mol Genet Genomic Med · 2021
0.98
3
Selective Insulin Resistance in the Kidney.
PMID: 27247938
Biomed Res Int · 2016
0.90
4
Human, but not rat, IRS1 targets to the plasma membrane in both human and rat adipocytes.
PMID: 17905199
Biochem Biophys Res Commun · 2007
0.82
5
Gestational Diabetes and Genetics:
PMID: 41898821
Genes (Basel) · 2026
0.80