AKT3(也称为蛋白激酶Bγ或PKBγ)是AKT丝氨酸/苏氨酸激酶家族的成员之一,属于PI3K-AKT-mTOR信号通路的关键组成部分。AKT家族包括AKT1、AKT2和AKT3三个亚型,它们共享高度保守的结构域,包括PH结构域(用于膜定位)、激酶结构域(催化活性)和调节结构域(调控激酶活性)。AKT家族的主要功能是通过磷酸化下游靶蛋白调控细胞存活、增殖、代谢和生长。AKT3主要在神经系统高表达,尤其在发育中的大脑和成年大脑的某些区域(如海马和皮层)发挥重要作用。AKT3通过抑制凋亡、促进神经元存活和突触可塑性来维持神经功能。突变或表达异常可能导致多种疾病,例如AKT3功能获得性突变与巨脑畸形(大脑过度生长)相关,而功能丧失性突变可能与小头畸形或神经发育障碍有关。AKT3过表达可能促进细胞存活和增殖,增加癌症风险(如胶质瘤),同时可能通过激活mTOR通路导致代谢异常。相反,AKT3表达降低可能导致神经元凋亡增加,影响认知功能或神经发育。AKT3与其他AKT亚型功能部分冗余,但AKT3在神经系统中的作用更为特异。在癌症中,AKT3的异常激活可能与其他基因(如PTEN缺失)协同促进肿瘤进展。此外,AKT3还参与血管生成和胰岛素信号调控,但其作用较AKT2弱。研究AKT3有助于理解神经发育疾病和癌症的机制,并为靶向治疗提供潜在方向。
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]
由该基因编码的蛋白质是AKT的成员,也称为PKB,丝氨酸/苏氨酸蛋白激酶家族。 AKT激酶是已知的细胞信号传导的调节以响应胰岛素和生长因子。它们涉及多种生物学过程,包括细胞增殖,分化,细胞凋亡,肿瘤发生,以及糖原合成和糖摄取。这种激酶已经显示出通过血小板衍生的生长因子(PDGF),胰岛素和胰岛素样生长因子1(IGF1)刺激。可替代地剪接编码不同同种型的转录变体已有描述。 [由RefSeq的,2008年7月提供]
AKT3基因(以及对应的蛋白质)的细胞分布位置:
AKT3基因的本体(GO)信息:
名称 |
---|
4014 Ras signaling pathway [PATH:hsa04014] |
4015 Rap1 signaling pathway [PATH:hsa04015] |
4010 MAPK signaling pathway [PATH:hsa04010] |
4012 ErbB signaling pathway [PATH:hsa04012] |
4370 VEGF signaling pathway [PATH:hsa04370] |
4630 Jak-STAT signaling pathway [PATH:hsa04630] |
4668 TNF signaling pathway [PATH:hsa04668] |
4066 HIF-1 signaling pathway [PATH:hsa04066] |
4068 FoxO signaling pathway [PATH:hsa04068] |
4071 Sphingolipid signaling pathway [PATH:hsa04071] |
4024 cAMP signaling pathway [PATH:hsa04024] |
4022 cGMP - PKG signaling pathway [PATH:hsa04022] |
4151 PI3K-Akt signaling pathway [PATH:hsa04151] |
4152 AMPK signaling pathway [PATH:hsa04152] |
4150 mTOR signaling pathway [PATH:hsa04150] |
4210 Apoptosis [PATH:hsa04210] |
4510 Focal adhesion [PATH:hsa04510] |
4530 Tight junction [PATH:hsa04530] |
4550 Signaling pathways regulating pluripotency of stem cells [PATH:hsa04550] |
4611 Platelet activation [PATH:hsa04611] |
4620 Toll-like receptor signaling pathway [PATH:hsa04620] |
4660 T cell receptor signaling pathway [PATH:hsa04660] |
4662 B cell receptor signaling pathway [PATH:hsa04662] |
4664 Fc epsilon RI signaling pathway [PATH:hsa04664] |
4666 Fc gamma R-mediated phagocytosis [PATH:hsa04666] |
4062 Chemokine signaling pathway [PATH:hsa04062] |
4910 Insulin signaling pathway [PATH:hsa04910] |
4922 Glucagon signaling pathway [PATH:hsa04922] |
4920 Adipocytokine signaling pathway [PATH:hsa04920] |
4915 Estrogen signaling pathway [PATH:hsa04915] |
4914 Progesterone-mediated oocyte maturation [PATH:hsa04914] |
4917 Prolactin signaling pathway [PATH:hsa04917] |
4919 Thyroid hormone signaling pathway [PATH:hsa04919] |
4261 Adrenergic signaling in cardiomyocytes [PATH:hsa04261] |
4973 Carbohydrate digestion and absorption [PATH:hsa04973] |
4725 Cholinergic synapse [PATH:hsa04725] |
4728 Dopaminergic synapse [PATH:hsa04728] |
4722 Neurotrophin signaling pathway [PATH:hsa04722] |
4380 Osteoclast differentiation [PATH:hsa04380] |
5200 Pathways in cancer [PATH:hsa05200] |
5230 Central carbon metabolism in cancer [PATH:hsa05230] |
5231 Choline metabolism in cancer [PATH:hsa05231] |
5205 Proteoglycans in cancer [PATH:hsa05205] |
5210 Colorectal cancer [PATH:hsa05210] |
5212 Pancreatic cancer [PATH:hsa05212] |
5214 Glioma [PATH:hsa05214] |
5221 Acute myeloid leukemia [PATH:hsa05221] |
5220 Chronic myeloid leukemia [PATH:hsa05220] |
5218 Melanoma [PATH:hsa05218] |
5211 Renal cell carcinoma [PATH:hsa05211] |
5215 Prostate cancer [PATH:hsa05215] |
5213 Endometrial cancer [PATH:hsa05213] |
5222 Small cell lung cancer [PATH:hsa05222] |
5223 Non-small cell lung cancer [PATH:hsa05223] |
4932 Non-alcoholic fatty liver disease (NAFLD) [PATH:hsa04932] |
5152 Tuberculosis [PATH:hsa05152] |
5166 HTLV-I infection [PATH:hsa05166] |
5162 Measles [PATH:hsa05162] |
5164 Influenza A [PATH:hsa05164] |
5161 Hepatitis B [PATH:hsa05161] |
5160 Hepatitis C [PATH:hsa05160] |
5169 Epstein-Barr virus infection [PATH:hsa05169] |
5145 Toxoplasmosis [PATH:hsa05145] |
5142 Chagas disease (American trypanosomiasis) [PATH:hsa05142] |
名称 |
---|
Activation of BAD and translocation to mitochondria |
Activation of BH3-only proteins |
Adaptive Immune System |
AKT phosphorylates targets in the cytosol |
AKT phosphorylates targets in the nucleus |
AKT-mediated inactivation of FOXO1A |
Apoptosis |
CD28 co-stimulation |
CD28 dependent PI3K/Akt signaling |
Constitutive Signaling by AKT1 E17K in Cancer |
Costimulation by the CD28 family |
CTLA4 inhibitory signaling |
DAP12 interactions |
DAP12 signaling |
Developmental Biology |
Disease |
Diseases of signal transduction |
Downregulation of ERBB2:ERBB3 signaling |
Downstream signal transduction |
Downstream signaling events of B Cell Receptor (BCR) |
Downstream signaling of activated FGFR1 |
Downstream signaling of activated FGFR2 |
Downstream signaling of activated FGFR3 |
Downstream signaling of activated FGFR4 |
Fc epsilon receptor (FCERI) signaling |
G beta:gamma signalling through PI3Kgamma |
G-protein beta:gamma signalling |
GAB1 signalosome |
Gene Expression |
Generic Transcription Pathway |
GPCR downstream signaling |
GPVI-mediated activation cascade |
Hemostasis |
Immune System |
Innate Immune System |
Intrinsic Pathway for Apoptosis |
Negative regulation of the PI3K/AKT network |
NGF signalling via TRKA from the plasma membrane |
PI-3K cascade:FGFR1 |
PI-3K cascade:FGFR2 |
PI-3K cascade:FGFR3 |
PI-3K cascade:FGFR4 |
PI3K events in ERBB2 signaling |
PI3K events in ERBB4 signaling |
PI3K/AKT activation |
PI3K/AKT Signaling in Cancer |
PIP3 activates AKT signaling |
Platelet activation, signaling and aggregation |
Programmed Cell Death |
Regulation of beta-cell development |
Regulation of gene expression in beta cells |
Role of LAT2/NTAL/LAB on calcium mobilization |
Signal Transduction |
Signaling by EGFR |
Signaling by ERBB2 |
Signaling by ERBB4 |
Signaling by FGFR |
Signaling by FGFR1 |
Signaling by FGFR2 |
Signaling by FGFR3 |
Signaling by FGFR4 |
Signaling by GPCR |
Signaling by PDGF |
Signaling by SCF-KIT |
Signaling by the B Cell Receptor (BCR) |
Signaling by VEGF |
Signalling by NGF |
TP53 Regulates Metabolic Genes |
Transcriptional Regulation by TP53 |
VEGFA-VEGFR2 Pathway |
VEGFR2 mediated vascular permeability |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Hemimegalencephaly | 0.121085767 | 4 | 0 | BeFree_ORPHANET |
Malformations of Cortical Development | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Schizophrenia | 0.12 | 1 | 1 | GWASCAT |
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 | 0.12 | 2 | 0 | UNIPROT |
Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome | 0.12 | 1 | 0 | CTD_human |
melanoma | 0.010616028 | 9 | 0 | BeFree_LHGDN |
Mammary Neoplasms | 0.003267234 | 3 | 0 | BeFree_LHGDN |
ovarian neoplasm | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Cardiomegaly | 0.00272435 | 1 | 0 | LHGDN |
Squamous cell carcinoma | 0.00272435 | 1 | 0 | LHGDN |
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