The protein encoded by this gene is a member of the AKT, also called PKB, serine/threonine protein kinase family. AKT kinases are known to be regulators of cell signaling in response to insulin and growth factors. They are involved in a wide variety of biological processes including cell proliferation, differentiation, apoptosis, tumorigenesis, as well as glycogen synthesis and glucose uptake. This kinase has been shown to be stimulated by platelet-derived growth factor (PDGF), insulin, and insulin-like growth factor 1 (IGF1). Alternatively splice transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

  • Nucleotide binding
  • Enables protein kinase activity
  • Enables protein serine/threonine kinase activity
  • Enables protein serine/threonine/tyrosine kinase activity
  • Enables protein binding
  • Located in nucleus
  • Located in cytoplasm
  • Located in membrane
  • Involved in mitochondrial genome maintenance
  • Involved in positive regulation of endothelial cell proliferation
  • Involved in protein phosphorylation
  • Involved in signal transduction
  • Phosphorylation

AKT3 (AKT Serine/Threonine Kinase 3) is a Protein Coding gene. Diseases associated with AKT3 include Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 and Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome. Among its related pathways are Regulation of TP53 Activity and DNA Damage Response (only ATM dependent). Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is AKT1.

  • Autosomal dominant inheritance
  • Tonic seizure
  • Abnormality of the kidney
  • Abnormality of the urinary system
  • Abnormality of the genitourinary system
  • Abnormality of head or neck
  • Abnormality of the mouth
  • Narrow mouth
  • Abnormal oral cavity morphology
  • Abnormality of the head
  • Hydrocephalus
  • Abnormality of skull size
  • Macrocephaly
  • Cranial asymmetry
  • Abnormality of the face
  • Abnormality of the forehead
  • Abnormality of the orbital region
  • Hypertelorism
  • High forehead
  • Abnormality of the musculoskeletal system
  • Abnormality of the nose
  • Abnormal nasal bridge morphology
  • Abnormality of the eye
  • Abnormal eyelid morphology
  • Abnormality of eye movement
  • Abnormality of vision
  • Visual impairment
  • Telecanthus
  • Abnormality of the optic nerve
  • Ophthalmoparesis
  • Optic atrophy
  • Abnormality of the nervous system
  • Behavioral abnormality

AKT3 Localizations – Subcellular Localization Database

Gene Location