| Entrez Gene ID | 26750 |
|---|---|
| Official Gene Symbol | RPS6KC1 (GeneCards) |
| Full name | ribosomal protein S6 kinase C1 |
| Location | 1q32.3 |
| Other ids | Vega : OTTHUMG00000036926 MIM : 617517 HGNC : HGNC:10439 Ensembl : ENSG00000136643 |
| Other names | RSKL1, RPK118, S6PKh1, hmS6PKh1, S6K-delta-1 |
| Summary | 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] |
Found 10 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1775 | 26750 | RPS6KC1 | 1 | 213391184 | 213391184 | Asymptomatic | HiSeq X Ten |
| 1819 | 26750 | RPS6KC1 | 1 | 213828186 | 213828186 | Asymptomatic | HiSeq X Ten |
| 2351 | 26750 | RPS6KC1 | 1 | 213939393 | 213939393 | Asymptomatic | HiSeq X Ten |
| 2370 | 26750 | RPS6KC1 | 1 | 213800021 | 213800021 | Asymptomatic | HiSeq X Ten |
| 2505 | 26750 | RPS6KC1 | 1 | 213913248 | 213913248 | Asymptomatic | HiSeq X Ten |
| 2525 | 26750 | RPS6KC1 | 1 | 213888641 | 213888641 | Asymptomatic | HiSeq X Ten |
| 24480 | 26750 | RPS6KC1 | 1 | 213987009 | 213987009 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 24506 | 26750 | RPS6KC1 | 1 | 213987009 | 213987009 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 24574 | 26750 | RPS6KC1 | 1 | 213370470 | 213370470 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 29719 | 26750 | RPS6KC1 | 1 | 213302953 | 213302953 | Autism Spectrum Disorders | HiSeq X Ten Single cell Sequencing Cell cloning NextSeq500 |