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AKT1 AKT serine/threonine kinase 1

Gene ID: 207, updated on 25-Sep-2022
Gene type: protein coding
Also known as: AKT; PKB; RAC; PRKBA; PKB-ALPHA; RAC-ALPHA

Summary

This gene encodes one of the three members of the human AKT serine-threonine protein kinase family which are often referred to as protein kinase B alpha, beta, and gamma. These highly similar AKT proteins all have an N-terminal pleckstrin homology domain, a serine/threonine-specific kinase domain and a C-terminal regulatory domain. These proteins are phosphorylated by phosphoinositide 3-kinase (PI3K). AKT/PI3K forms a key component of many signalling pathways that involve the binding of membrane-bound ligands such as receptor tyrosine kinases, G-protein coupled receptors, and integrin-linked kinase. These AKT proteins therefore regulate a wide variety of cellular functions including cell proliferation, survival, metabolism, and angiogenesis in both normal and malignant cells. AKT proteins are recruited to the cell membrane by phosphatidylinositol 3,4,5-trisphosphate (PIP3) after phosphorylation of phosphatidylinositol 4,5-bisphosphate (PIP2) by PI3K. Subsequent phosphorylation of both threonine residue 308 and serine residue 473 is required for full activation of the AKT1 protein encoded by this gene. Phosphorylation of additional residues also occurs, for example, in response to insulin growth factor-1 and epidermal growth factor. Protein phosphatases act as negative regulators of AKT proteins by dephosphorylating AKT or PIP3. The PI3K/AKT signalling pathway is crucial for tumor cell survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating AKT1 which then phosphorylates and inactivates components of the apoptotic machinery. AKT proteins also participate in the mammalian target of rapamycin (mTOR) signalling pathway which controls the assembly of the eukaryotic translation initiation factor 4F (eIF4E) complex and this pathway, in addition to responding to extracellular signals from growth factors and cytokines, is disregulated in many cancers. Mutations in this gene are associated with multiple types of cancer and excessive tissue growth including Proteus syndrome and Cowden syndrome 6, and breast, colorectal, and ovarian cancers. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2020]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Colorectal cancer
MedGen: C0346629OMIM: 114500GeneReviews: Lynch Syndrome
See labs
Cowden syndrome 6
MedGen: C3554519OMIM: 615109GeneReviews: Not available
See labs
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available
Familial cancer of breastSee labs
Neoplasm of ovary
MedGen: C0919267OMIM: 167000GeneReviews: Not available
See labs
Proteus syndrome
MedGen: C0085261OMIM: 176920GeneReviews: Proteus Syndrome
See labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2022-01-25)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2022-01-25)

ClinGen Genome Curation Page

Genomic context

Location:
14q32.33
Sequence:
Chromosome: 14; NC_000014.9 (104769349..104795748, complement)
Total number of exons:
17

Links

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