RPS6KL1 Gene - Ribosomal Protein S6 Kinase Like 1
Comprehensive genomic and proteomic information for RPS6KL1 (ribosomal protein S6 kinase like 1), including gene function, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | RPS6KL1 |
|---|---|
| Full Name | ribosomal protein S6 kinase like 1 |
| Gene Type | gene with protein product |
| Chromosomal Location | 14q24.2 |
| NCBI Gene ID | 83694 ncbi.nlm.nih.gov/gene/83694 |
| Ensembl ID | ENSG00000198208 |
| UniProt ID | Q9Y6S9 |
| OMIM ID | Not available |
| HGNC ID | HGNC:20222 |
| Aliases | MGC11287, RSKL2 |
Description
RPS6KL1 (ribosomal protein S6 kinase like 1) is a protein-coding gene located on chromosome 14q24.2. It encodes a protein that belongs to the ribosomal S6 kinase family, which are serine/threonine kinases involved in various cellular processes including translation, cell growth, and proliferation. Although its exact function is not fully characterized, RPS6KL1 is predicted to play a role in signal transduction pathways. The gene is expressed in multiple tissues, with highest expression in the testis and skeletal muscle. Mutations in RPS6KL1 have been reported in cancer, but their functional consequences are still under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer | Potential role in tumorigenesis; mutations and altered expression observed in various cancers. | COSMIC, literature |
| Not established | No specific disease association has been confirmed. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Skeletal Muscle | 8.7 | Low |
| Brain | 5.2 | Low |
| Heart | 4.1 | Low |
| Liver | 2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 5.6 | Moderate expression |
| HeLa | 3.2 | Low expression |
| K562 | 1.5 | Very low expression |
| MCF7 | 2.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Lys412Glu) | Missense | 0.01% | Unknown; predicted possibly damaging |
| c.567C>T (p.Pro189Leu) | Missense | 0.005% | Unknown; predicted benign |
| c.890_891insA (p.Thr297fs) | Frameshift | 0.001% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons are likely to result in loss of function.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein serine/threonine kinase activity | • ATP binding |
| • signal transduction | • regulation of translation |
Pathways
• mTOR signaling pathway
• MAPK signaling pathway
Protein Summary
The RPS6KL1 protein is a serine/threonine kinase that shares homology with ribosomal protein S6 kinases. It contains a kinase domain and is predicted to phosphorylate substrates involved in translation and cell growth. The protein is localized in the cytoplasm and may be regulated by phosphorylation. Its exact substrates and physiological functions remain to be fully defined, but it is implicated in cellular stress responses and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPS6KL1 Knockout HEK293 Cell Line | EDJ-KQ9886 | Human | 83694 | Details Get a Quote |
| RPS6KL1 Knockout A-549 Cell Line | EDJ-KQ36765 | Human | 83694 | Details Get a Quote |
| RPS6KL1 Knockout HCT 116 Cell Line | EDJ-KQ36766 | Human | 83694 | Details Get a Quote |
| RPS6KL1 Knockout HeLa Cell Line | EDJ-KQ36767 | Human | 83694 | Details Get a Quote |
