NRG1(神经调节蛋白1)是一种属于表皮生长因子(EGF)家族的重要基因,编码的蛋白质在神经系统、心脏和乳腺等组织的发育和功能中起关键作用。NRG1通过激活ErbB受体酪氨酸激酶(特别是ErbB3和ErbB4)来传递信号,参与细胞增殖、分化、迁移和存活等过程。在神经系统中,NRG1对突触形成、髓鞘化和神经元存活至关重要;在心脏中,它调控心肌细胞的发育和功能;在乳腺中则影响导管生长和泌乳功能。NRG1基因突变可能导致其功能异常,与多种疾病相关,例如精神分裂症、双相情感障碍和乳腺癌。某些突变会破坏NRG1与ErbB受体的结合能力,影响下游信号通路,导致神经发育异常或肿瘤发生。NRG1过表达可能促进肿瘤生长和转移,尤其在乳腺癌中,高水平的NRG1可通过持续激活ErbB受体驱动癌细胞增殖。相反,NRG1表达降低可能导致神经发育缺陷、心脏功能异常或髓鞘形成障碍,例如在周围神经病变中观察到NRG1信号减弱。NRG1属于神经调节蛋白家族(NRG家族),该家族成员均含有EGF样结构域,能够激活ErbB受体,并在组织发育和稳态维持中发挥类似作用。家族成员(如NRG2、NRG3和NRG4)在功能上有部分重叠,但表达模式和生物学效应存在差异。NRG1是该家族中研究最深入的成员,因其广泛的生理和病理作用而备受关注。
The protein encoded by this gene is a membrane glycoprotein that that mediates cell-cell signaling and plays a critical role in the growth and development of multiple organ systems. An extraordinary variety of different isoforms are produced from this gene through alternative promoter usage and splicing. These isoforms are expressed in a tissue-specific manner and differ significantly in their structure, and are classified as types I, II, III, IV, V and VI. Dysregulation of this gene has been linked to diseases such as cancer, schizophrenia, and bipolar disorder (BPD). [provided by RefSeq, Jun 2014]
由该基因编码的蛋白质是一种膜糖蛋白,其介导细胞 - 细胞信号传导和起着多器官系统的增长和发展的关键作用。非凡多种不同的亚型是由该基因通过替代启动子用法和拼接产生的。这些同种型在组织特异性方式表达,并在它们的结构显著不同,并且被分类为类型I,II,III,IV,V和VI。这个基因的失调已被链接到的疾病,如癌症,精神分裂症和双相性精神障碍(BPD)。 [由RefSeq的,2014年6月提供]
NRG1基因(以及对应的蛋白质)的细胞分布位置:
NRG1基因的本体(GO)信息:
名称 |
---|
4012 ErbB signaling pathway [PATH:hsa04012] |
名称 |
---|
Adaptive Immune System |
Constitutive Signaling by Aberrant PI3K in Cancer |
DAP12 interactions |
DAP12 signaling |
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 |
GAB1 signalosome |
GRB2 events in ERBB2 signaling |
GRB7 events in ERBB2 signaling |
Immune System |
Innate Immune System |
NGF signalling via TRKA from the plasma membrane |
Nuclear signaling by ERBB4 |
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 |
Role of LAT2/NTAL/LAB on calcium mobilization |
SHC1 events in ERBB2 signaling |
SHC1 events in ERBB4 signaling |
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 PDGF |
Signaling by SCF-KIT |
Signaling by the B Cell Receptor (BCR) |
Signalling by NGF |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Schizophrenia | 0.330216746 | 209 | 5 | BeFree_CTD_human_GAD_LHGDN |
Mammary Neoplasms | 0.137703311 | 11 | 0 | BeFree_CTD_human_LHGDN |
Hirschsprung Disease | 0.124538567 | 9 | 1 | BeFree_CTD_human_GAD |
Heart failure | 0.121085767 | 4 | 0 | BeFree_CTD_human |
Thyroid carcinoma | 0.120271442 | 2 | 2 | BeFree_GWASCAT |
Neoplasm Invasiveness | 0.12 | 1 | 0 | CTD_human |
Gastric ulcer | 0.12 | 1 | 0 | CTD_human |
Contact Dermatitis | 0.12 | 1 | 0 | CTD_human |
Polycystic Ovary Syndrome | 0.12 | 1 | 0 | CTD_human |
Amphetamine-Related Disorders | 0.12 | 1 | 0 | CTD_human |
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