RPS6KB1
Ribosomal Protein S6 Kinase B1
Gene Information Card
| Symbol | RPS6KB1 |
|---|---|
| Full Name | Ribosomal Protein S6 Kinase B1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q23.1 |
| NCBI Gene ID | 6198 ncbi.nlm.nih.gov/gene/6198 |
| Ensembl ID | ENSG00000108443 |
| UniProt ID | P23443 |
| OMIM ID | 601939 |
| HGNC ID | 10436 |
| Aliases | S6K1, p70-S6K, p70S6K, PS6K, S6K-beta-1 |
Description
RPS6KB1 (ribosomal protein S6 kinase B1) encodes a member of the ribosomal S6 kinase family of serine/threonine kinases. This kinase is a key downstream effector of the mTOR (mammalian target of rapamycin) signaling pathway, regulating cell growth, proliferation, survival, and protein synthesis by phosphorylating the S6 ribosomal protein and other substrates. Alternative splicing results in multiple transcript variants.
Disease Associations
| Disease Name | Disease Description |
|---|---|
| Breast cancer | Amplification and overexpression of RPS6KB1 lead to hyperactivation of mTOR/S6K signaling, promoting cell proliferation and survival. |
| Prostate cancer | Increased RPS6KB1 expression correlates with disease progression and androgen receptor signaling. |
| Obesity and type 2 diabetes | RPS6KB1 deficiency in mice protects against diet-induced obesity and improves insulin sensitivity, indicating a role in metabolic regulation. |
| Tuberous sclerosis complex (TSC) | Loss of TSC1/TSC2 leads to constitutive mTOR activation and S6K1 hyperphosphorylation, contributing to hamartoma formation. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 15.2 | Medium |
| Heart | 12.8 | Medium |
| Brain | 8.5 | Low |
| Liver | 6.3 | Low |
| Kidney | 10.1 | Medium |
| Testis | 18.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 22.5 | High expression |
| HeLa | 18.3 | High expression |
| MCF7 | 14.7 | Medium expression |
| A549 | 12.1 | Medium expression |
| K562 | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Mutation site | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1250A>G (p.Asn417Ser) | missense | <0.01% | Unknown functional effect |
| c.1724C>T (p.Thr575Met) | missense | <0.01% | Unknown functional effect |
| Amplification | copy number gain | ~5% in breast cancer | Increased expression and pathway activation |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in RPS6KB1 are rare; knockout studies in mice show reduced cell size and impaired insulin signaling.
Gain of Function (GOF)
Amplification and overexpression of RPS6KB1 act as gain-of-function, driving oncogenic mTOR signaling.
Dominant Negative (DN)
No dominant-negative mutations have been characterized in RPS6KB1.
View complete mutation data：ClinVar: https://www.clinvar.com/gene/6198 COSMIC: https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=RPS6KB1
Gene Ontology (GO)
| • protein serine/threonine kinase activity | • ATP binding |
| • ribosomal protein S6 kinase activity | • signal transduction |
| • positive regulation of translation | • cell growth |
| • mTOR signaling pathway |
Pathways
• mTOR signaling pathway (KEGG: hsa04150)
• PI3K-Akt signaling pathway (KEGG: hsa04151)
• Insulin signaling pathway (KEGG: hsa04910)
• Longevity regulating pathway (KEGG: hsa04211)
Protein Summary
RPS6KB1 encodes the 70 kDa ribosomal protein S6 kinase beta-1 (S6K1), a serine/threonine kinase that phosphorylates the S6 ribosomal protein and other substrates to promote mRNA translation, cell growth, and proliferation. S6K1 is activated by mTORC1 via phosphorylation at Thr389. It plays critical roles in cancer, metabolism, and aging.
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPS6KB1 Knockout HEK293 Cell Line | EDJ-KQ398 | Human | 6198 | Details Get a Quote |
| RPS6KB1 Knockout A-549 Cell Line | EDJ-KQ18627 | Human | 6198 | Details Get a Quote |
| RPS6KB1 Knockout HCT 116 Cell Line | EDJ-KQ18628 | Human | 6198 | Details Get a Quote |
| RPS6KB1 Knockout HeLa Cell Line | EDJ-KQ18629 | Human | 6198 | Details Get a Quote |
| RPS6KB1 (c.*75_*76=) Point Mutation in HAP1 Cell Line | EDC03598 | Human | 6198 | Details Get a Quote |
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