E4F1

Chr 16

E4F transcription factor 1

Also known as: E4F

NCBI Gene: 1877 ENSG00000167967 UniProt: Q66K89

E4F1 encodes a zinc finger transcription factor that regulates cell cycle progression and functions in the p53 and pRB tumor suppressor pathways, including control of cyclin A2 transcription. The gene is highly constrained against loss-of-function variants (LOEUF 0.48), but specific disease associations have not been established based on the provided information. An inheritance pattern cannot be determined from the available data.

ResearchSummary from RefSeq, UniProt

The zinc finger protein encoded by this gene is one of several cellular transcription factors whose DNA-binding activities are regulated through the action of adenovirus E1A. A 50-kDa amino-terminal product is generated from the full-length protein through proteolytic cleavage. The protein is differentially regulated by E1A-induced phosphorylation. The full-length gene product represses transcription from the E4 promoter in the absence of E1A, while the 50-kDa form acts as a transcriptional activator in its presence. Alternative splicing results in multiple transcripts encoding different proteins. [provided by RefSeq, Jan 2014]

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

0.48

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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