HSF1

Chr 8

heat shock transcription factor 1

Also known as: HSTF1

NCBI Gene: 3297 ENSG00000185122 UniProt: Q00613

This transcription factor regulates the heat shock response by binding to heat shock elements and activating expression of molecular chaperones and heat shock proteins that protect cells from stress damage. Mutations cause autosomal dominant neurodevelopmental disorder with seizures, hypotonia, and developmental delay, with onset typically in infancy or early childhood. HSF1 is highly constrained against loss-of-function variants, suggesting an essential role in human development.

ResearchSummary from RefSeq, UniProt

The product of this gene is a transcription factor that is rapidly induced after temperature stress and binds heat shock promoter elements (HSE). This protein plays a role in the regulation of lifespan. Expression of this gene is repressed by phosphorylation, which promotes binding by heat shock protein 90. [provided by RefSeq, Jul 2017]

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

227

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.41

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)