🧬 基因注释：AKT1

官方名称：AKT serine/threonine kinase 1

功能摘要：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].

• CELF2 置信度: 2.0
• CPSF6 置信度: 2.0
• CPSF7 置信度: 2.0
• CSTF2T 置信度: 2.0
• EIF4A3 置信度: 2.0
• EWSR1 置信度: 2.0
• FUBP3 置信度: 2.0
• GRSF1 置信度: 2.0
• HNRNPA2B1 置信度: 2.0
• HNRNPC 置信度: 2.0
• HNRNPH1 置信度: 2.0
• HNRNPK 置信度: 2.0
• HNRNPM 置信度: 2.0
• MBNL1 置信度: 2.0
• PABPC4 置信度: 2.0
• PTBP1 置信度: 2.0
• RBFOX2 置信度: 2.0
• RBM10 置信度: 2.0
• RBM15 置信度: 2.0
• RBM20 置信度: 2.0

该基因暂无关联疾病记录