RPS6KC1
Chr 1ARribosomal protein S6 kinase C1
Also known as: NEDSCW, RPK118, RSKL1, S6K-delta-1, S6PKh1, humS6PKh1
This protein binds to sphingosine kinase and phosphatidylinositol 3-phosphate to transmit sphingosine-1-phosphate signaling and recruits peroxiredoxin-3 to early endosomes and mitochondria. Mutations in RPS6KC1 cause autosomal recessive developmental and epileptic encephalopathy with onset in early infancy. The gene is highly constrained against loss-of-function variants, suggesting that complete protein loss is not well tolerated.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RPS6KC1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools