Primary Identifier | MGI:99454 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 16367 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables phosphatidylinositol 3-kinase activator activity; phosphatidylinositol 3-kinase binding activity; and transmembrane receptor protein tyrosine kinase adaptor activity. Involved in cellular response to fatty acid; insulin receptor signaling pathway; and insulin-like growth factor receptor signaling pathway. Acts upstream of or within several processes, including cellular response to insulin stimulus; positive regulation of epithelial cell migration; and positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction. Located in several cellular components, including ciliary basal body; nucleus; and plasma membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system gland; and liver and biliary system. Used to study type 2 diabetes mellitus. Human ortholog(s) of this gene implicated in Alzheimer's disease; coronary artery disease; type 2 diabetes mellitus; and uterine fibroid. Orthologous to human IRS1 (insulin receptor substrate 1). PHENOTYPE: Homozygotes for targeted null mutations exhibit 50 percent reductions in body weights at birth and at 4 months of age, impaired glucose tolerance, and mild insulin and IGF-1 resistance. [provided by MGI curators] |