SESN1

Chr 6

sestrin 1

Also known as: PA26, SEST1

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]

ResearchGenerating clinical summary…
0
Active trials
24
Pubs (1 yr)
P/LP submissions
P/LP missense
0.66
LOEUF
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.66LOEUF
pLI 0.001
Z-score 2.88
OE 0.39 (0.240.66)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.05Z-score
OE missense 0.83 (0.750.92)
251 obs / 302.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.39 (0.240.66)
00.351.4
Missense OE?0.83 (0.750.92)
00.61.4
Synonymous OE?1.06
01.21.6
LoF obs/exp: 10 / 25.8Missense obs/exp: 251 / 302.3Syn Z: -0.46

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SESN1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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