Primary Identifier | MGI:87986 | Organism | mouse, laboratory |
Chromosome | 12 | NCBI Gene Number | 11651 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Enables protein kinase binding activity; protein serine kinase activity; and protein serine/threonine kinase activity. Involved in several processes, including cell surface receptor protein tyrosine kinase signaling pathway; negative regulation of apoptotic signaling pathway; and regulation of gene expression. Acts upstream of or within with a positive effect on gene expression. Acts upstream of or within several processes, including cellular response to cytokine stimulus; embryonic placenta development; and positive regulation of macromolecule metabolic process. Located in several cellular components, including cell-cell junction; microtubule cytoskeleton; and mitochondrion. Is active in glutamatergic synapse. Is expressed in several structures, including alimentary system; early conceptus; genitourinary system; integumental system; and nervous system. Used to study Proteus syndrome and schizophrenia. Human ortholog(s) of this gene implicated in several diseases, including Cowden syndrome 6; breast cancer (multiple); colorectal cancer (multiple); pancreatic cancer (multiple); and reproductive organ cancer (multiple). Orthologous to human AKT1 (AKT serine/threonine kinase 1). PHENOTYPE: Mutant homozygotes are smaller than sibs due to retarded prenatal and postnatal growth and exhibit increased apoptosis and decreased lifespan with genotoxic stress. Mice are fertile, but males have attenuated spermatogenesis and abnormal testes. [provided by MGI curators] |