RPS6KC1
Ribosomal Protein S6 Kinase C1
Gene Information Card
| Symbol | RPS6KC1 |
|---|---|
| Full Name | Ribosomal Protein S6 Kinase C1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q32.3 |
| NCBI Gene ID | 26750 ncbi.nlm.nih.gov/gene/26750 |
| Ensembl ID | ENSG00000143106 |
| UniProt ID | Q9BQI3 |
| OMIM ID | 611511 |
| HGNC ID | 10421 |
| Aliases | RPS6KC1, S6K-like kinase, S6KL, RPK118 |
Description
RPS6KC1 (Ribosomal Protein S6 Kinase C1) is a protein-coding gene that encodes a member of the ribosomal S6 kinase family. The encoded protein is a serine/threonine kinase involved in the regulation of cell growth, proliferation, and survival. It phosphorylates ribosomal protein S6 and other substrates, and is implicated in mTOR signaling pathways. RPS6KC1 is expressed in multiple tissues and has been associated with various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered kinase activity may promote cell proliferation and survival | COSMIC; literature |
| Intellectual disability | Loss-of-function mutations may impair neuronal signaling | ClinVar; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.5 | Moderate expression |
| HeLa | 8.2 | Low expression |
| K562 | 7.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function |
| c.890A>G (p.Tyr297Cys) | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons are predicted to cause loss of function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein serine/threonine kinase activity (GO:0004674) | • ATP binding (GO:0005524) |
| • protein phosphorylation (GO:0006468) | • protein autophosphorylation (GO:0046777) |
| • cytoplasm (GO:0005737) |
Pathways
• mTOR signaling pathway (Reactome: R-HSA-165159)
• Signaling by S6K (Reactome: R-HSA-166658)
Protein Summary
RPS6KC1 encodes a 118 kDa serine/threonine kinase (UniProt Q9BQI3) with an N-terminal kinase domain and a C-terminal regulatory domain. It phosphorylates ribosomal protein S6 and other targets, regulating translation and cell growth. The protein is localized in the cytoplasm and is activated by mTORC1 signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPS6KC1 Knockout HEK293 Cell Line | EDJ-KQ8611 | Human | 26750 | Details Get a Quote |
| RPS6KC1 Knockout A-549 Cell Line | EDJ-KQ33468 | Human | 26750 | Details Get a Quote |
| RPS6KC1 Knockout HCT 116 Cell Line | EDJ-KQ34749 | Human | 26750 | Details Get a Quote |
| RPS6KC1 Knockout HeLa Cell Line | EDJ-KQ34750 | Human | 26750 | Details Get a Quote |
