RPS6KA1 Gene (Ribosomal Protein S6 Kinase A1)
A key serine/threonine kinase in the MAPK/ERK signaling pathway, involved in cell growth, differentiation, and survival.
Gene Information Card
| Symbol | RPS6KA1 |
|---|---|
| Full Name | Ribosomal Protein S6 Kinase A1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.11 |
| NCBI Gene ID | 6195 ncbi.nlm.nih.gov/gene/6195 |
| Ensembl ID | ENSG00000117676 |
| UniProt ID | Q15418 |
| OMIM ID | 601684 |
| HGNC ID | 10430 |
| Aliases | RSK1, MAPKAPK1A, p90-RSK1, S6K-alpha-1 |
Description
RPS6KA1 encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase is activated by ERK/MAPK signaling and phosphorylates multiple substrates involved in cell proliferation, differentiation, and survival. It plays a role in transcriptional regulation, translation, and cell cycle control.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of MAPK/ERK pathway leads to aberrant RSK1 activation, promoting uncontrolled cell growth and survival. | COSMIC; PubMed studies |
| Intellectual disability (rare) | Missense mutations in RPS6KA1 have been reported in patients with neurodevelopmental disorders, possibly affecting kinase activity. | ClinVar; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | High expression |
| HeLa | 11.5 | Medium expression |
| K562 | 9.8 | Low expression |
| A549 | 10.2 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1250A>G (p.Asn417Ser) | Missense | <0.01% | Unknown functional effect; reported in ClinVar |
| c.1681C>T (p.Arg561Trp) | Missense | <0.01% | Likely benign |
| c.2113G>A (p.Glu705Lys) | Missense | <0.01% | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants in the kinase domain may reduce catalytic activity, impairing downstream signaling.
Gain of Function (GOF)
Not well documented; some cancer-associated mutations may increase kinase activity.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• MAPK/ERK signaling pathway (Reactome: R-HSA-5673001)
• Signaling by Receptor Tyrosine Kinases (Reactome: R-HSA-9006934)
• RSK activation (Reactome: R-HSA-444257)
Protein Summary
RPS6KA1 (RSK1) is a 735-amino acid serine/threonine kinase with two kinase domains. It is activated by ERK1/2 phosphorylation and phosphorylates substrates such as ribosomal protein S6, transcription factors (e.g., CREB, c-Fos), and regulators of translation (e.g., eIF4B). RSK1 is involved in cell growth, motility, and survival, and its dysregulation is implicated in cancer and developmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPS6KA1 Knockout HEK293 Cell Line | EDJ-KQ749 | Human | 6195 | Details Get a Quote |
| RPS6KA1 Knockout A-549 Cell Line | EDJ-KQ19402 | Human | 6195 | Details Get a Quote |
| RPS6KA1 Knockout HCT 116 Cell Line | EDJ-KQ19403 | Human | 6195 | Details Get a Quote |
| RPS6KA1 Knockout HeLa Cell Line | EDJ-KQ19404 | Human | 6195 | Details Get a Quote |
