RPS6KA6
Ribosomal Protein S6 Kinase A6
Gene Information Card
| Symbol | RPS6KA6 |
|---|---|
| Full Name | Ribosomal Protein S6 Kinase A6 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq21.1 |
| NCBI Gene ID | 27330 ncbi.nlm.nih.gov/gene/27330 |
| Ensembl ID | ENSG00000169432 |
| UniProt ID | Q9UK32 |
| OMIM ID | 300447 |
| HGNC ID | 10433 |
| Aliases | RSK4, S6K-alpha-6, p90-RSK4, RSK-4 |
Description
RPS6KA6 (Ribosomal Protein S6 Kinase A6) is a protein-coding gene that encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. The encoded protein is involved in the MAPK signaling pathway and regulates cell proliferation, differentiation, and survival. RPS6KA6 is located on the X chromosome and has been implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual Disability, X-linked | Loss-of-function mutations in RPS6KA6 impair RSK4 kinase activity, disrupting downstream signaling and neuronal development | PMID: 25217958 |
| Breast Cancer | RPS6KA6 overexpression or amplification may promote tumor growth via enhanced MAPK/ERK signaling | PMID: 23454898 |
| Ovarian Cancer | Altered RPS6KA6 expression correlates with poor prognosis and chemoresistance | PMID: 25605244 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 2.1 | Not detected |
| Kidney | 6.7 | Low |
| Testis | 15.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Moderate expression |
| HeLa | 7.5 | Low expression |
| MCF7 | 14.1 | High expression |
| A549 | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1054C>T (p.Arg352*) | Nonsense | <0.01% | Loss of function |
| c.158G>A (p.Arg53His) | Missense | <0.01% | Unknown |
| c.1123_1124del (p.Leu375fs) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or disrupt kinase domain, leading to reduced RSK4 activity.
Gain of Function (GOF)
Not reported in RPS6KA6.
Dominant Negative (DN)
Not reported in RPS6KA6.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004672 - protein kinase activity | • GO:0004711 - ribosomal protein S6 kinase activity |
| • GO:0006468 - protein phosphorylation | • GO:0007165 - signal transduction |
| • GO:0005634 - nucleus | • GO:0005737 - cytoplasm |
Pathways
• MAPK/ERK signaling pathway (Reactome: R-HSA-5673001)
• Signaling by Receptor Tyrosine Kinases (Reactome: R-HSA-9006934)
Protein Summary
The RPS6KA6 protein (RSK4) is a 745-amino acid serine/threonine kinase containing two kinase domains (N-terminal and C-terminal). It is activated by ERK1/2 phosphorylation and phosphorylates downstream targets such as ribosomal protein S6, transcription factors, and regulators of cell cycle. RSK4 plays a role in cell growth, survival, and differentiation, and its dysregulation is linked to cancer and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPS6KA6 Knockout HEK293 Cell Line | EDJ-KQ754 | Human | 27330 | Details Get a Quote |
| RPS6KA6 Knockout A-549 Cell Line | EDJ-KQ19416 | Human | 27330 | Details Get a Quote |
| RPS6KA6 Knockout HeLa Cell Line | EDJ-KQ56060 | Human | 27330 | Details Get a Quote |
| RPS6KA6 Knockout HCT 116 Cell Line | EDJ-KQ73003 | Human | 27330 | Details Get a Quote |
| RPS6KA6 Knockout HAP1 Cell Line | EDC07944 | Human | 27330 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
