RPS6KC1 Chromosome 1
Ribosomal protein S6 kinase C1
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What This Gene Does
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]
Gene Info
Gene Group
Ribosomal protein S6 kinase family
Locus Type
gene with protein product
Location
1q32.3
Ensembl
ENSG00000136643
Associated Conditions (1)
6 conditions
Key Variants
RS144668404
Conflicting classifications of pathogenicity
Health Risk
RS180891474
Conflicting classifications of pathogenicity
Health Risk
RS182116576
Conflicting classifications of pathogenicity
Health Risk
RS368815923
Conflicting classifications of pathogenicity
Health Risk
RS748570547
Conflicting classifications of pathogenicity
Health Risk
RS61751035
Likely pathogenic
6 conditions, 6 conditions
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144668404 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS180891474 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS182116576 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS368815923 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS748570547 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS61751035 | Health Risk | Likely pathogenic | 6 conditions, 6 conditions |