RPS6KA1 (ribosomal protein S6 kinase A1)
- symbol:
- RPS6KA1
- locus group:
- protein-coding gene
- location:
- 1p36.11
- gene_family:
- alias symbol:
- RSK1|HU-1|p90Rsk|MAPKAPK1
- alias name:
- None
- entrez id:
- 6195
- ensembl gene id:
- ENSG00000117676
- ucsc gene id:
- uc001bmr.2
- refseq accession:
- NM_002953
- hgnc_id:
- HGNC:10430
- approved reserved:
- 1994-07-11
RPS6KA1（Ribosomal Protein S6 Kinase A1，核糖体蛋白S6激酶A1）属于RSK（Ribosomal S6 Kinase，核糖体S6激酶）基因家族，该家族成员均为丝氨酸/苏氨酸蛋白激酶，通过MAPK/ERK信号通路被激活，参与调控细胞增殖、存活、分化及代谢等关键生物学过程。RPS6KA1编码的蛋白包含两个激酶结构域（N端和C端），通过磷酸化下游靶蛋白（如转录因子CREB、核糖体蛋白S6等）传递信号，影响基因表达和蛋白质合成。其主要作用位点包括细胞质和细胞核，在生长因子、激素或应激刺激下被激活后，可转位至细胞核调控靶基因。突变可能导致激酶活性异常，例如功能获得性突变（如某些癌症中的激活突变）会促进细胞过度增殖和存活，而功能丧失性突变可能与神经发育障碍或生长缺陷相关。该基因与多种疾病相关，包括癌症（如乳腺癌、前列腺癌）、心血管疾病及神经系统疾病（如阿尔茨海默病）。过表达时可能增强细胞增殖和抗凋亡能力，促进肿瘤发生；而表达降低可能导致细胞周期阻滞或凋亡增加，影响组织发育。RSK家族共性包括依赖ERK信号激活、双重激酶结构域及参与细胞应激响应。专业术语解释：激酶（Kinase）是催化蛋白质磷酸化的酶；磷酸化（Phosphorylation）是通过添加磷酸基团调节蛋白功能的过程；MAPK/ERK通路（Mitogen-Activated Protein Kinase/Extracellular signal-Regulated Kinase pathway）是调控细胞生长的关键信号通路。
This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 nonidentical 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. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [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不相同的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。备用转录剪接变体，编码不同同种型，已经表征。 [由RefSeq的，2008年7月提供]
基因本体信息
RPS6KA1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
RPS6KA1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 |
| Sezary Syndrome | 0.12 | 1 | 0 | CTD_human |
| Malignant neoplasm of breast | 0.003181358 | 4 | 0 | BeFree_GAD |
| Mammary Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Rectal Neoplasms | 0.002367032 | 1 | 0 | GAD |
| Colonic Neoplasms | 0.002367032 | 1 | 0 | GAD |
| Carcinogenesis | 0.000814326 | 3 | 0 | BeFree |
| Breast Carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Malignant tumor of colon | 0.000542884 | 2 | 0 | BeFree |
| Colon Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of prostate | 0.000542884 | 2 | 0 | BeFree |
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