GSPT1

Chr 16

G1 to S phase transition 1

Also known as: 551G9.2, ETF3A, GST1, eRF3a

NCBI Gene: 2935 ENSG00000103342 UniProt: P15170

GSPT1 encodes a GTPase that mediates translation termination at stop codons and is a component of the nonsense-mediated decay pathway that eliminates aberrant mRNAs. Mutations cause autosomal dominant neurodevelopmental disorder with intellectual disability, seizures, and movement abnormalities. This gene is highly constrained against loss-of-function variants, indicating intolerance to haploinsufficiency.

ResearchSummary from RefSeq, UniProt

Enables GTPase activity and translation release factor activity. Involved in regulation of translational termination and translational termination. Acts upstream of or within protein methylation. Part of translation release factor complex. Is active in cytosolic ribosome. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.16

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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