AKT1 | SelfDecode | Genome Analysis

Summary of AKT1

The AKT1 gene encodes for the serine-threonine protein kinase. AKT1 and the related AKT2 are activated by platelet-derived growth factor. It plays an important role in the nervous system as a mediator of growth factor-induced neuronal survival. It can suppress cell death (R).

Mutations in this gene are associated with Proteus syndrome, which is an overgrowth of bones and organs (R).

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The Function of AKT1

AKT1-specific substrates have been recently identified, including palladin (PALLD), which phosphorylation modulates cytoskeletal organization and cell motility; prohibitin (PHB), playing an important role in cell metabolism and proliferation; and CDKN1A, for which phosphorylation at 'Thr-145' induces its release from CDK2 and cytoplasmic relocalization. These recent findings indicate that the AKT1 isoform has a more specific role in cell motility and proliferation. Phosphorylates CLK2 thereby controlling cell survival to ionizing radiation.

Protein names

Recommended name:

RAC-alpha serine/threonine-protein kinase

Short name:

PKB

Alternative name(s):

Protein kinase B
Protein kinase B alpha
PKB alpha
Proto-oncogene c-Akt
RAC-PK-alpha

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RS3730358 (AKT1) ??
RS3803304 (AKT1) ??

Top Gene-Substance Interactions

AKT1 Interacts with These Diseases

Disease	Score

Fixes

To Increase levels of active AKT1:

Increase intake of Acetyl-L-Carnitine [R].
Increase intake of Fish Oil [R].
Increase Amino acid intake [R].
Increase intake of Picamilon [R].

To Decrease levels of active AKT1:

Increase intake of L-Glutamine [R].

Substances That Increase AKT1

Category:

Substances	Interaction	Organism	Category

Substances That Decrease AKT1

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Substances	Interaction	Organism	Category

Advanced Summary

lung cancer Genetics Home Reference provides information about lung cancer. ovarian cancer Genetics Home Reference provides information about ovarian cancer. Proteus syndrome At least one mutation in the AKT1 gene has been found to cause Proteus syndrome, a rare condition characterized by overgrowth of the bones, skin, and other tissues. This mutation changes a single protein building block (amino acid) in AKT1 kinase. Specifically, it replaces the amino acid glutamic acid with the amino acid lysine at protein position 17 (written as Glu17Lys or E17K). The mutation is not inherited from a parent; in people with Proteus syndrome, the mutation arises randomly in one cell during the early stages of development before birth. As cells continue to grow and divide, some cells will have the mutation and other cells will not. This mixture of cells with and without a genetic mutation is known as mosaicism. The Glu17Lys mutation leads to the production of an overactive AKT1 kinase that is turned on when it should not be. The abnormally active protein disrupts a cell's ability to regulate its own growth, allowing the cell to grow and divide abnormally. Increased cell proliferation in various tissues and organs leads to the overgrowth characteristic of Proteus syndrome. Studies suggest that the AKT1 gene mutation is more common in groups of cells that experience overgrowth than in the parts of the body that grow normally. cancers The Glu17Lys mutation in the AKT1 gene (described above) has also been found in a small percentage of breast, ovarian, and colorectal cancers. In these cases the mutation is somatic, which means it is acquired during a person's lifetime and is present only in tumor cells. The mutation abnormally activates AKT1 kinase, allowing cells to grow and divide without control or order. This disordered cell proliferation leads to the development of cancerous tumors. Although the Glu17Lys mutation has been reported in only a few types of cancer, increased activity (expression) of the AKT1 gene is found in many types of cancer. other disorders Several common variations (polymorphisms) in the AKT1 gene have been found more often in people with schizophrenia than in those without the disease. These polymorphisms alter single DNA building blocks (nucleotides) in the AKT1 gene. It is unknown whether the genetic changes have an effect on the structure or function of AKT1 kinase, and if so, how they are related to the development of schizophrenia. AKT1 gene polymorphisms appear to be one of many genetic and environmental factors that contribute to the development of this complex psychiatric disorder.

The AKT1 gene provides instructions for making a protein called AKT1 kinase. This protein is found in various cell types throughout the body, where it plays a critical role in many signaling pathways. For example, AKT1 kinase helps regulate cell growth and division (proliferation), the process by which cells mature to carry out specific functions (differentiation), and cell survival. AKT1 kinase also helps control apoptosis, which is the self-destruction of cells when they become damaged or are no longer needed. Signaling involving AKT1 kinase appears to be essential for the normal development and function of the nervous system. Studies have suggested a role for AKT1 kinase in cell-to-cell communication among nerve cells (neurons), neuronal survival, and the formation of memories. The AKT1 gene belongs to a class of genes known as oncogenes. When mutated, oncogenes have the potential to cause normal cells to become cancerous.

Conditions with Increased Gene Activity

Experimental Variables:

Condition	Change (log₂fold)	Comparison	Species	Experimental variables	Experiment name

Conditions with Decreased Gene Activity

Experimental Variables:

Condition	Change (log₂fold)	Comparison	Species	Experimental variables	Experiment name

Technical

The following transcription factors affect gene expression:

Tissue specificity:

Expressed in prostate cancer and levels increase from the normal to the malignant state (at protein level). Expressed in all human cell types so far analyzed. The Tyr-176 phosphorylated form shows a significant increase in expression in breast cancers during the progressive stages i.e. normal to hyperplasia (ADH), ductal carcinoma in situ (DCIS), invasive ductal carcinoma (IDC) and lymph node metastatic (LNMM) stages.

Gene Pathways:

Caution:

In light of strong homologies in the primary amino acid sequence, the 3 AKT kinases were long surmised to play redundant and overlapping roles. More recent studies has brought into question the redundancy within AKT kinase isoforms and instead pointed to isoform specific functions in different cellular events and diseases. AKT1 is more specifically involved in cellular survival pathways, by inhibiting apoptotic processes; whereas AKT2 is more specific for the insulin receptor signaling pathway. Moreover, while AKT1 and AKT2 are often implicated in many aspects of cellular transformation, the 2 isoforms act in a complementary opposing manner. The role of AKT3 is less clear, though it appears to be predominantly expressed in brain.

Enzyme Regulation:

Three specific sites, one in the kinase domain (Thr-308) and the two other ones in the C-terminal regulatory region (Ser-473 and Tyr-474), need to be phosphorylated for its full activation. Inhibited by pyrrolopyrimidine inhibitors like aniline triazole and spiroindoline.

Molecular Function:

Biological Processes:

Drug Bank:

Adenosine Triphosphate
Arsenic Trioxide

*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

AKT1 (AKT serine/threonine kinase 1)

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