MYC基因是一种原癌基因,属于MYC基因家族,该家族还包括MYCN和MYCL等成员,它们共同的特点是编码转录因子,能够调控大量靶基因的表达,参与细胞增殖、分化、凋亡和代谢等关键生物学过程。MYC基因的表达产物c-Myc蛋白是一种核内转录因子,通过与MAX蛋白形成异源二聚体并结合到DNA的E-box序列上,激活或抑制下游靶基因的转录。c-Myc在正常细胞中调控细胞周期进程、核糖体生物合成、能量代谢和蛋白质合成等,对胚胎发育和组织稳态至关重要。然而,MYC基因的突变或异常表达会导致其功能失调,进而促进肿瘤发生。常见的MYC基因异常包括基因扩增、染色体易位(如Burkitt淋巴瘤中的t(8;14)易位)或突变,这些改变会导致c-Myc蛋白的过表达或稳定性增加,从而持续激活促增殖和抗凋亡信号通路,促进肿瘤细胞的无限增殖和恶性转化。MYC的过表达与多种癌症密切相关,如淋巴瘤、乳腺癌、肺癌和结直肠癌等。此外,MYC还通过调控microRNA和长链非编码RNA影响肿瘤微环境和免疫逃逸。如果MYC表达降低,细胞可能停滞在G1期,增殖受阻,甚至触发凋亡,因此MYC是癌症治疗的重要靶点之一。MYC基因家族成员的共性是它们都含有碱性螺旋-环-螺旋(bHLH)和亮氨酸拉链(Zip)结构域,这些结构域介导了它们与DNA或其他蛋白质的相互作用。由于MYC在肿瘤中的关键作用,针对MYC及其下游通路的小分子抑制剂或基因治疗策略正在研究中,但因其广泛的功能和复杂的调控网络,靶向MYC的治疗仍面临挑战。
The protein encoded by this gene is a multifunctional, nuclear phosphoprotein that plays a role in cell cycle progression, apoptosis and cellular transformation. It functions as a transcription factor that regulates transcription of specific target genes. Mutations, overexpression, rearrangement and translocation of this gene have been associated with a variety of hematopoietic tumors, leukemias and lymphomas, including Burkitt lymphoma. There is evidence to show that alternative translation initiations from an upstream, in-frame non-AUG (CUG) and a downstream AUG start site result in the production of two isoforms with distinct N-termini. The synthesis of non-AUG initiated protein is suppressed in Burkitt's lymphomas, suggesting its importance in the normal function of this gene. [provided by RefSeq, Jul 2008]
由该基因编码的蛋白质是一种多功能的,核磷蛋白即在细胞周期进程,细胞凋亡和细胞转化的作用。它起到一种调节的特定靶基因转录的转录因子。突变,过度表达,重排和该基因的易位已与多种造血肿瘤,白血病和淋巴瘤,包括伯基特淋巴瘤有关。有证据表明,来自上游,在帧非-AUG(CUG)和下游AUG起始位点的结果在生产两种异构体具有不同的N-末端的替代翻译灌顶。非AUG启动蛋白的合成被抑制在伯基特淋巴瘤,表明该基因的正常功能的重要性。 [由RefSeq的,2008年7月提供]
MYC基因(以及对应的蛋白质)的细胞分布位置:
MYC基因的本体(GO)信息:
名称 |
---|
4010 MAPK signaling pathway [PATH:hsa04010] |
4012 ErbB signaling pathway [PATH:hsa04012] |
4310 Wnt signaling pathway [PATH:hsa04310] |
4350 TGF-beta signaling pathway [PATH:hsa04350] |
4390 Hippo signaling pathway [PATH:hsa04390] |
4630 Jak-STAT signaling pathway [PATH:hsa04630] |
4151 PI3K-Akt signaling pathway [PATH:hsa04151] |
4110 Cell cycle [PATH:hsa04110] |
4550 Signaling pathways regulating pluripotency of stem cells [PATH:hsa04550] |
4919 Thyroid hormone signaling pathway [PATH:hsa04919] |
5200 Pathways in cancer [PATH:hsa05200] |
5230 Central carbon metabolism in cancer [PATH:hsa05230] |
5202 Transcriptional misregulation in cancers [PATH:hsa05202] |
5206 MicroRNAs in cancer [PATH:hsa05206] |
5205 Proteoglycans in cancer [PATH:hsa05205] |
5210 Colorectal cancer [PATH:hsa05210] |
5216 Thyroid cancer [PATH:hsa05216] |
5221 Acute myeloid leukemia [PATH:hsa05221] |
5220 Chronic myeloid leukemia [PATH:hsa05220] |
5219 Bladder cancer [PATH:hsa05219] |
5213 Endometrial cancer [PATH:hsa05213] |
5222 Small cell lung cancer [PATH:hsa05222] |
5166 HTLV-I infection [PATH:hsa05166] |
5161 Hepatitis B [PATH:hsa05161] |
5169 Epstein-Barr virus infection [PATH:hsa05169] |
名称 |
---|
binding of TCF/LEF:CTNNB1 to target gene promoters |
Cell Cycle |
Cell Cycle, Mitotic |
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants |
Constitutive Signaling by NOTCH1 PEST Domain Mutants |
Cyclin A:Cdk2-associated events at S phase entry |
Cyclin E associated events during G1/S transition |
Disease |
Diseases of signal transduction |
formation of the beta-catenin:TCF transactivating complex |
G1/S Transition |
Gene Expression |
Generic Transcription Pathway |
Insulin-like Growth Factor-2 mRNA Binding Proteins (IGF2BPs/IMPs/VICKZs) bind RNA |
Mitotic G1-G1/S phases |
NOTCH1 Intracellular Domain Regulates Transcription |
S Phase |
Signaling by NOTCH |
Signaling by NOTCH1 |
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer |
Signaling by NOTCH1 in Cancer |
Signaling by NOTCH1 PEST Domain Mutants in Cancer |
Signaling by TGF-beta Receptor Complex |
Signaling by Wnt |
SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription |
TCF dependent signaling in response to WNT |
Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Burkitt Lymphoma | 0.495996478 | 134 | 4 | BeFree_CLINVAR_CTD_human_LHGDN_MGD_ORPHANET |
Liver carcinoma | 0.305750759 | 56 | 0 | BeFree_CTD_human_GAD_LHGDN_MGD_RGD |
Colonic Neoplasms | 0.203538676 | 9 | 0 | BeFree_CTD_human_LHGDN_RGD |
Liver Neoplasms, Experimental | 0.2 | 4 | 0 | CTD_human_RGD |
Medulloblastoma | 0.139845051 | 46 | 0 | BeFree_CTD_human_LHGDN |
Neoplasm Metastasis | 0.138392034 | 51 | 0 | BeFree_CTD_human_GAD_LHGDN |
Prostatic Neoplasms | 0.137974753 | 13 | 0 | BeFree_CTD_human_LHGDN |
Leukemia, Myelocytic, Acute | 0.13549205 | 38 | 0 | BeFree_CTD_human_LHGDN |
Neuroblastoma | 0.129771907 | 37 | 0 | BeFree_CTD_human |
Liver neoplasms | 0.128977445 | 17 | 0 | BeFree_CTD_human_LHGDN |
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