RPS6KC1

Chr 1

ribosomal protein S6 kinase C1

Also known as: NEDSCW, RPK118, RSKL1, S6K-delta-1, S6PKh1, humS6PKh1

NCBI Gene: 26750 ENSG00000136643 UniProt: Q96S38

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.

ResearchSummary from RefSeq, UniProt

Sphingosine kinase catalyzes the formation of sphingosine 1 phosphate, a lipid cellular messenger. The protein encoded by this gene can bind to sphingosine kinase and to phosphatidylinositol 3-phosphate, suggesting a role in sphingosine 1 phophate signaling. The encoded protein can also bind to peroxiredoxin-3 and may help transport it to mitochondria. [provided by RefSeq, Mar 2017]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.48

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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