SESN1
sestrin 1
Summary
This gene encodes a member of the sestrin family. Sestrins are induced by the p53 tumor suppressor protein and play a role in the cellular response to DNA damage and oxidative stress. The encoded protein mediates p53 inhibition of cell growth by activating AMP-activated protein kinase, which results in the inhibition of the mammalian target of rapamycin protein. The encoded protein also plays a critical role in antioxidant defense by regenerating overoxidized peroxiredoxins, and the expression of this gene is a potential marker for exposure to radiation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
Known Variants27 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs111353760 | 6:109,306,493 | T/G | downstream gene variant | — |
| rs201885358 | 6:109,308,811 | A/G | — | uncertain significance |
| rs1448953598 | 6:109,309,780 | T/C | — | uncertain significance |
| rs2483905624 | 6:109,309,823 | T/G | — | uncertain significance |
| rs748198330 | 6:109,309,873 | T/C | — | uncertain significance |
| rs1331747916 | 6:109,311,912 | C/G | — | uncertain significance |
| rs937114076 | 6:109,311,992 | T/A | — | uncertain significance |
| rs78550764 | 6:109,312,239 | C/T | intron variant | — |
| rs370356794 | 6:109,314,007 | G/C | — | uncertain significance |
| rs143545521 | 6:109,319,735 | T/C | — | uncertain significance |
| rs1397460744 | 6:109,319,921 | G/A | — | uncertain significance |
| rs1436299259 | 6:109,319,945 | G/A | — | uncertain significance |
| rs1343896583 | 6:109,321,779 | T/C | — | uncertain significance |
| rs760197100 | 6:109,321,791 | T/C | — | uncertain significance |
| rs2483959068 | 6:109,321,805 | G/T | — | uncertain significance |
| rs375028635 | 6:109,321,836 | T/C | — | uncertain significance |
| rs151284724 | 6:109,322,501 | A/G | — | uncertain significance |
| rs371591680 | 6:109,322,621 | C/T | — | uncertain significance |
| rs1196032474 | 6:109,323,499 | T/A | — | uncertain significance |
| rs146922968 | 6:109,323,540 | C/G | — | uncertain significance |
| rs12197912 | 6:109,338,147 | C/T | intron variant | — |
| rs12206423 | 6:109,353,216 | C/T | intron variant | — |
| rs12213664 | 6:109,353,413 | T/C | intron variant | — |
| rs11759732 | 6:109,370,006 | A/G | intron variant | — |
| rs6900472 | 6:109,372,120 | G/A | intron variant | — |
| rs11153159 | 6:109,376,647 | C/G | downstream gene variant | — |
| rs66606621 | 6:109,405,273 | T/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.