AKT3 Gene - AKT Serine/Threonine Kinase 3
Comprehensive guide to AKT3: function, expression, mutations, and clinical significance
Gene Information Card
| Symbol | AKT3 |
|---|---|
| Full Name | AKT serine/threonine kinase 3 |
| Gene Type | gene with protein product |
| Chromosomal Location | 1q43-q44 |
| NCBI Gene ID | 10000 ncbi.nlm.nih.gov/gene/10000 |
| Ensembl ID | ENSG00000117020 |
| UniProt ID | Q9Y243 |
| OMIM ID | 611223 |
| HGNC ID | HGNC:393 |
| Aliases | PKBG, RAC-gamma, PRKBG |
Description
AKT3 (AKT serine/threonine kinase 3) is a protein-coding gene that encodes a member of the AKT family of serine/threonine kinases. AKT3 is a key component of the PI3K/AKT/mTOR signaling pathway, which regulates cell proliferation, survival, metabolism, and angiogenesis. It is involved in various cellular processes and is implicated in several cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | AKT3 amplification/overexpression activates PI3K/AKT pathway, promoting tumor growth and survival. | COSMIC, ClinVar |
| Breast cancer | AKT3 mutations and copy number alterations contribute to tumor progression and therapy resistance. | COSMIC, ClinVar |
| Colorectal cancer | AKT3 upregulation enhances cell proliferation and invasion via PI3K/AKT signaling. | COSMIC |
| Melanoma | AKT3 overexpression is associated with increased tumor aggressiveness and poor prognosis. | COSMIC |
| Hemimegalencephaly | Somatic activating mutations in AKT3 cause brain overgrowth and seizures. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 35.2 | High |
| Testis | 20.1 | Medium |
| Lung | 15.3 | Medium |
| Kidney | 12.8 | Medium |
| Liver | 8.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 25.4 | High expression |
| A549 (lung cancer) | 18.7 | Moderate expression |
| HepG2 (liver cancer) | 12.3 | Low expression |
| K562 (leukemia) | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| E17K | Missense | 0.5% in various cancers | Gain-of-function; activates AKT3 by promoting membrane localization. |
| R465H | Missense | Rare | Gain-of-function; increases kinase activity. |
| Amplification | Copy number gain | 10-20% in breast and prostate cancers | Overexpression of AKT3, leading to pathway activation. |
| Deletion | Loss of function | Rare | Loss of AKT3 activity may impair cell survival in some contexts. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in AKT3 are rare and may impair cell survival or proliferation in specific tissues, but their clinical significance is not well defined.
Gain of Function (GOF)
Gain-of-function mutations (e.g., E17K) and amplifications are common in cancers, leading to constitutive activation of the PI3K/AKT pathway, promoting tumor growth and resistance to apoptosis.
Dominant Negative (DN)
Dominant-negative mutations have not been well characterized for AKT3; however, some mutations may interfere with wild-type AKT3 function, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • protein kinase activity | • ATP binding |
| • signal transduction | • regulation of cell proliferation |
| • apoptotic process | • response to growth factor |
Pathways
• PI3K-Akt signaling pathway
• mTOR signaling pathway
• FoxO signaling pathway
• Apoptosis
• Cell cycle
Protein Summary
AKT3 is a serine/threonine kinase that plays a central role in the PI3K/AKT/mTOR pathway. It is activated by phosphorylation in response to growth factors and insulin. AKT3 phosphorylates multiple downstream substrates involved in cell survival, growth, proliferation, and metabolism. It is highly expressed in the brain and is critical for brain development. Dysregulation of AKT3 is implicated in various cancers and neurological disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AKT3 Knockout HEK293 Cell Line | EDJ-KQ449 | Human | 10000 | Details Get a Quote |
| AKT3 Knockout A-549 Cell Line | EDJ-KQ18752 | Human | 10000 | Details Get a Quote |
| AKT3 Knockout HeLa Cell Line | EDJ-KQ55295 | Human | 10000 | Details Get a Quote |
| AKT3 Knockout HCT 116 Cell Line | EDJ-KQ72236 | Human | 10000 | Details Get a Quote |
| AKT1 and AKT3 Knockout A-549 Cell Line | EDC90264 | Human | 207 and 10000 | Details Get a Quote |
| AKT2 and AKT3 Knockout A-549 Cell Line | EDC90416 | Human | 208 and 10000 | Details Get a Quote |
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