| Primary Identifier | MGI:1921620 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 74370 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Predicted to enable several functions, including 14-3-3 protein binding activity; enzyme binding activity; and protein kinase regulator activity. Predicted to contribute to protein serine/threonine kinase activity. Involved in several processes, including negative regulation of insulin secretion; positive regulation of cell differentiation; and social behavior. Acts upstream of or within TORC1 signaling. Predicted to be located in several cellular components, including cytoplasmic stress granule; lysosome; and neuronal cell body. Predicted to be part of TORC1 complex and serine/threonine protein kinase complex. Predicted to be active in lysosomal membrane. Is expressed in several structures, including 1-cell stage conceptus; 4-8 cell stage conceptus; endocrine gland; genitourinary system; and nervous system. Human ortholog(s) of this gene implicated in nicotine dependence. Orthologous to human RPTOR (regulatory associated protein of MTOR complex 1). PHENOTYPE: Homozygous mutation of this gene results in lethality prior to somitogenesis. Mice homozygous for a conditional allele activated in dendritic cells exhibit increased susceptibility to induced colitis and expansion of certain populations of dendritic cells. Homozygosity for the p.S606D mutation leads to a lower body weight with smaller livers, kidneys and hearts and decreased susceptibility to diet-induced obesity. [provided by MGI curators] |