CSNK1E

Chr 22

casein kinase 1 epsilon

Also known as: CKIe, CKIepsilon, HCKIE

NCBI Gene: 1454 ENSG00000213923 UniProt: P49674

The encoded protein is a serine/threonine kinase that phosphorylates key substrates in Wnt signaling pathways and serves as a central component of the circadian clock by regulating PER1 and PER2 phosphorylation, nuclear transport, and degradation. Mutations cause autosomal dominant familial advanced sleep phase syndrome, characterized by very early sleep and wake times. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to have severe consequences.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a serine/threonine protein kinase and a member of the casein kinase I protein family, whose members have been implicated in the control of cytoplasmic and nuclear processes, including DNA replication and repair. The encoded protein is found in the cytoplasm as a monomer and can phosphorylate a variety of proteins, including itself. This protein has been shown to phosphorylate period, a circadian rhythm protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Feb 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

0.14

LOEUF· LoF intol.

LOF

Mechanism· predicted

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