RPS6KA3 (ribosomal protein S6 kinase A3)
- symbol:
- RPS6KA3
- locus group:
- protein-coding gene
- location:
- Xp22.12
- gene_family:
- X-linked mental retardation
- alias symbol:
- RSK2|HU-3
- alias name:
- None
- entrez id:
- 6197
- ensembl gene id:
- ENSG00000177189
- ucsc gene id:
- uc004czu.4
- refseq accession:
- NM_004586
- hgnc_id:
- HGNC:10432
- approved reserved:
- 1994-07-11
RPS6KA3（Ribosomal Protein S6 Kinase A3，核糖体蛋白S6激酶A3）属于RSK（Ribosomal S6 Kinase，核糖体S6激酶）家族，该家族是一类丝氨酸/苏氨酸蛋白激酶，主要参与调控细胞生长、增殖、存活和代谢等过程。RPS6KA3位于X染色体上，编码一种90kDa的蛋白激酶（RSK2），其通过磷酸化下游靶蛋白（如转录因子CREB和组蛋白H3）传递信号，影响基因表达。该基因的生物学功能依赖于MAPK/ERK信号通路（一种调控细胞对外界刺激反应的信号传导途径），当细胞受到生长因子或激素刺激时，RPS6KA3被激活并参与调控细胞周期、突触可塑性（神经元连接强度的调节能力）和学习记忆等过程。RPS6KA3突变可导致Coffin-Lowry综合征（CLS），这是一种X连锁遗传病，表现为智力障碍、面部特征异常、骨骼畸形和神经系统症状，突变通常导致激酶活性丧失或降低，影响下游信号传导。若该基因过表达，可能促进细胞增殖和存活，与某些癌症（如乳腺癌）的发生相关；而表达降低则可能导致神经发育异常或认知功能障碍。RSK家族成员的共性是均含有两个激酶结构域（N端和C端），并通过ERK信号通路被激活，参与调控转录、翻译和细胞骨架重组等过程。研究还发现RPS6KA3与自闭症谱系障碍（ASD）和阿尔茨海默病（AD）等神经精神疾病存在潜在关联，可能通过影响突触功能或tau蛋白（一种与神经退行性疾病相关的蛋白）磷酸化参与病理过程。
This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Mutations in this gene have been associated with Coffin-Lowry syndrome (CLS). [provided by RefSeq, Jul 2008]
该基因编码对RSK（核糖体S6激酶）家族丝氨酸/苏氨酸激酶的成员。这种激酶包含2不相同激酶催化结构域和磷酸化多种底物，包括信号转导通路的促分裂原活化激酶（MAPK）的成员。此蛋白的活性已牵涉在控制细胞生长和分化。在这种基因突变与棺材-劳瑞综合征（CLS）相关联。 [由RefSeq的，2008年7月提供]
基因本体信息
RPS6KA3基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
RPS6KA3基因的本体（GO）信息：
| 名称 |
|---|
| 4010 MAPK signaling pathway [PATH:hsa04010] |
| 4150 mTOR signaling pathway [PATH:hsa04150] |
| 4114 Oocyte meiosis [PATH:hsa04114] |
| 4914 Progesterone-mediated oocyte maturation [PATH:hsa04914] |
| 4720 Long-term potentiation [PATH:hsa04720] |
| 4722 Neurotrophin signaling pathway [PATH:hsa04722] |
| 名称 |
|---|
| Activated TLR4 signalling |
| Activation of NMDA receptor upon glutamate binding and postsynaptic events |
| Axon guidance |
| Cellular responses to stress |
| Cellular Senescence |
| CREB phosphorylation |
| CREB phosphorylation through the activation of Ras |
| Developmental Biology |
| ERK/MAPK targets |
| Gastrin-CREB signalling pathway via PKC and MAPK |
| Immune System |
| Innate Immune System |
| L1CAM interactions |
| MAP kinase activation in TLR cascade |
| MAPK targets/ Nuclear events mediated by MAP kinases |
| MyD88 cascade initiated on plasma membrane |
| MyD88 dependent cascade initiated on endosome |
| MyD88-independent TLR3/TLR4 cascade |
| MyD88:Mal cascade initiated on plasma membrane |
| Neuronal System |
| Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell |
| NGF signalling via TRKA from the plasma membrane |
| Nuclear Events (kinase and transcription factor activation) |
| Post NMDA receptor activation events |
| Recycling pathway of L1 |
| RSK activation |
| Senescence-Associated Secretory Phenotype (SASP) |
| Signaling by GPCR |
| Signalling by NGF |
| Toll Like Receptor 10 (TLR10) Cascade |
| Toll Like Receptor 2 (TLR2) Cascade |
| Toll Like Receptor 3 (TLR3) Cascade |
| Toll Like Receptor 4 (TLR4) Cascade |
| Toll Like Receptor 5 (TLR5) Cascade |
| Toll Like Receptor 7/8 (TLR7/8) Cascade |
| Toll Like Receptor 9 (TLR9) Cascade |
| Toll Like Receptor TLR1:TLR2 Cascade |
| Toll Like Receptor TLR6:TLR2 Cascade |
| Toll-Like Receptors Cascades |
| TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation |
| TRAF6 Mediated Induction of proinflammatory cytokines |
| Transmission across Chemical Synapses |
| TRIF-mediated TLR3/TLR4 signaling |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Coffin-Lowry syndrome | 0.592023717 | 41 | 9 | BeFree_CLINVAR_CTD_human_GAD_LHGDN_MGD_ORPHANET_UNIPROT |
| Mental Retardation, X-Linked 19 | 0.24 | 2 | 5 | CLINVAR_UNIPROT |
| Liver carcinoma | 0.120814326 | 3 | 0 | BeFree_CTD_human |
| Neoplasm Metastasis | 0.120814326 | 4 | 0 | BeFree_CTD_human |
| Bone Diseases, Developmental | 0.12 | 1 | 0 | CTD_human |
| Neoplasm Invasiveness | 0.12 | 1 | 0 | CTD_human |
| Psychomotor Disorders | 0.12 | 1 | 0 | CTD_human |
| Mental Retardation, X-Linked | 0.00408156 | 5 | 0 | BeFree_LHGDN |
| Intellectual Disability | 0.003267234 | 3 | 0 | BeFree_LHGDN |
| Prostatic Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
联系方式
山东省济南市章丘区文博路2号 齐鲁师范学院 genelibs生信实验室
山东省济南市高新区舜华路750号大学科技园北区F座4单元2楼
电话： 0531-88819269
E-mail: product@genelibs.com
微信公众号
关注微信订阅号，实时查看信息，关注医学生物学动态。
版权所有 © 2025.Genelibs 济南弘晖生物技术有限公司 鲁ICP备13024435号-2
