Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Insulin receptor substrate 1

The IRS1 gene encodes a protein which is phosphorylated by insulin receptor tyrosine kinase. Mutations in this gene cause insulin resistance and type 2 diabetes.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Target mutation analysis
Turnaround 20
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Hereditary susceptibility to diabetes
IRS1
MAPK8IP1
PDX1
SH2B1
TBC1D1
Insulin resistance
CIDEC
Diabetes mellitus with insulin resistance and acanthosis nigricans
INSR
ENPP1
IRS1
IRS2
PPARG

References:

1.

Hart LM et al. (1999) Prevalence of variants in candidate genes for type 2 diabetes mellitus in The Netherlands: the Rotterdam study and the Hoorn study.

[^]
2.

Böhni R et al. (1999) Autonomous control of cell and organ size by CHICO, a Drosophila homolog of vertebrate IRS1-4.

[^]
3.

Porzio O et al. (1999) The Gly972-->Arg amino acid polymorphism in IRS-1 impairs insulin secretion in pancreatic beta cells.

[^]
4.

Baroni MG et al. (1999) A common mutation of the insulin receptor substrate-1 gene is a risk factor for coronary artery disease.

[^]
5.

Kulkarni RN et al. (1999) Altered function of insulin receptor substrate-1-deficient mouse islets and cultured beta-cell lines.

[^]
6.

Kido Y et al. (2000) Tissue-specific insulin resistance in mice with mutations in the insulin receptor, IRS-1, and IRS-2.

[^]
7.

Ogata N et al. (2000) Insulin receptor substrate-1 in osteoblast is indispensable for maintaining bone turnover.

[^]
8.

Hribal ML et al. (2000) The Gly-->Arg972 amino acid polymorphism in insulin receptor substrate-1 affects glucose metabolism in skeletal muscle cells.

[^]
9.

Clancy DJ et al. (2001) Extension of life-span by loss of CHICO, a Drosophila insulin receptor substrate protein.

[^]
10.

Esposito DL et al. (2003) A novel T608R missense mutation in insulin receptor substrate-1 identified in a subject with type 2 diabetes impairs metabolic insulin signaling.

[^]
11.

Marini MA et al. (2003) The Arg972 variant in insulin receptor substrate-1 is associated with an atherogenic profile in offspring of type 2 diabetic patients.

[^]
12.

Nishiyama M et al. (1992) Cloning and increased expression of an insulin receptor substrate-1-like gene in human hepatocellular carcinoma.

[^]
13.

Abate N et al. (2003) Genetic polymorphism PC-1 K121Q and ethnic susceptibility to insulin resistance.

[^]
14.

Federici M et al. (2004) G972R IRS-1 variant impairs insulin regulation of endothelial nitric oxide synthase in cultured human endothelial cells.

[^]
15.

Drakas R et al. (2004) Control of cell size through phosphorylation of upstream binding factor 1 by nuclear phosphatidylinositol 3-kinase.

[^]
16.

Perticone F et al. (2004) Impaired endothelial function in never-treated hypertensive subjects carrying the Arg972 polymorphism in the insulin receptor substrate-1 gene.

[^]
17.

Kim JK et al. (2004) PKC-theta knockout mice are protected from fat-induced insulin resistance.

[^]
18.

Taniguchi CM et al. (2005) Complementary roles of IRS-1 and IRS-2 in the hepatic regulation of metabolism.

[^]
19.

Sun XJ et al. (1991) Structure of the insulin receptor substrate IRS-1 defines a unique signal transduction protein.

[^]
20.

Wu A et al. (2008) Nuclear insulin receptor substrate-1 activates promoters of cell cycle progression genes.

[^]
21.

Shi B et al. (2007) Micro RNA 145 targets the insulin receptor substrate-1 and inhibits the growth of colon cancer cells.

[^]
22.

Zhang J et al. (2008) The cell growth suppressor, mir-126, targets IRS-1.

[^]
23.

Rung J et al. (2009) Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia.

[^]
24.

Houghton AM et al. (2010) Neutrophil elastase-mediated degradation of IRS-1 accelerates lung tumor growth.

[^]
25.

Song R et al. (2013) Central role of E3 ubiquitin ligase MG53 in insulin resistance and metabolic disorders.

[^]
26.

Clausen JO et al. (1995) Insulin resistance: interactions between obesity and a common variant of insulin receptor substrate-1.

[^]
27.

Nishiyama M et al. (1994) The human insulin receptor substrate-1 gene (IRS1) is localized on 2q36.

[^]
28.

Myers MG et al. (1994) The IRS-1 signaling system.

[^]
29.

Laakso M et al. (1994) Insulin receptor substrate-1 variants in non-insulin-dependent diabetes.

[^]
30.

Almind K et al. (1993) Aminoacid polymorphisms of insulin receptor substrate-1 in non-insulin-dependent diabetes mellitus.

[^]
31.

Stoffel M et al. (1993) Human insulin receptor substrate-1 gene (IRS1): chromosomal localization to 2q35-q36.1 and identification of a simple tandem repeat DNA polymorphism.

[^]
32.

Araki E et al. (1993) Human skeletal muscle insulin receptor substrate-1. Characterization of the cDNA, gene, and chromosomal localization.

[^]
33.

Almind K et al. (1996) A common amino acid polymorphism in insulin receptor substrate-1 causes impaired insulin signaling. Evidence from transfection studies.

[^]
34.

Esposito DL et al. (1996) Deletion of Gly723 in the insulin receptor substrate-1 of a patient with noninsulin-dependent diabetes mellitus.

[^]
35.

Ogihara T et al. (1997) 14-3-3 protein binds to insulin receptor substrate-1, one of the binding sites of which is in the phosphotyrosine binding domain.

[^]
36.

Abe H et al. (1998) Hypertension, hypertriglyceridemia, and impaired endothelium-dependent vascular relaxation in mice lacking insulin receptor substrate-1.

[^]
Update: Sept. 26, 2018